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Sample records for genetic load linked

  1. Genetics Home Reference: X-linked adrenoleukodystrophy

    Science.gov (United States)

    ... particular ethnic groups? Genetic Changes Mutations in the ABCD1 gene cause X-linked adrenoleukodystrophy . The ABCD1 gene provides instructions for producing the adrenoleukodystrophy protein ( ...

  2. Genetic loading on human loving styles.

    Science.gov (United States)

    Emanuele, Enzo; Brondino, Natascia; Pesenti, Sara; Re, Simona; Geroldi, Diego

    2007-12-01

    It has been hypothesized that cerebral neurotransmitters such as dopamine and serotonin could play a role in human romantic bonding. However, no data on the genetic basis of human romantic love are currently available. To address this issue, we looked for associations between markers in neurotransmitter genes (the serotonin transporter gene, 5-HTT; the serotonin receptor 2A, 5HT2A; the dopamine D2 receptor gene, DRD2; and the dopamine D4 receptor gene, DRD4) and the six styles of love as conceptualized by Lee (Eros, Ludus, Storge, Pragma, Mania and Agape). A total of 350 healthy young adults (165 males and 185 females, mean age: 24.1+/-3.9 years, range 18-32 years) filled the 24-item Love Attitudes Scale (LAS) and were genotyped for the following six polymorphic markers: the serotonin transporter-linked polymorphic region (5-HTTLPR), the 5HT2A T102C and C516T polymorphisms, the DRD2 TaqI A and TaqI B variants, and the DRD4 exon 3 VNTR polymorphism. Statistical analysis revealed a significant association between the DRD2 TaqI A genotypes and "Eros" (a loving style characterized by a tendency to develop intense emotional experiences based on the physical attraction to the partner), as well as between the C516T 5HT2A polymorphism and "Mania" (a possessive and dependent romantic attachment, characterized by self-defeating emotions). These associations were present in both sexes and remained significant even after adjustment for potential confounders. Our data provide the first evidence of a possible genetic loading on human loving styles.

  3. New active load voltage clamp for HF-link converters

    DEFF Research Database (Denmark)

    Ljusev, Petar; Andersen, Michael Andreas E.

    2005-01-01

    This paper proposes a new active clamp for HF-link converters, which features very high efficiency by returning the clamped energy back to the primary side through a small auxiliary converter. It also increases the reliability of HF-link converters by providing an alternative load current path du...

  4. New active load voltage clamp for HF-link converters

    DEFF Research Database (Denmark)

    Ljusev, Petar; Andersen, Michael Andreas E.

    2005-01-01

    This paper proposes a new active clamp for HF-link converters, which features very high efficiency by returning the clamped energy back to the primary side through a small auxiliary converter. It also increases the reliability of HF-link converters by providing an alternative load current path...

  5. Genetics Home Reference: X-linked agammaglobulinemia

    Science.gov (United States)

    ... Home Health Conditions X-linked agammaglobulinemia X-linked agammaglobulinemia Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description X-linked agammaglobulinemia (XLA) is a condition that affects the immune ...

  6. New active load voltage clamp for HF-link converters

    Energy Technology Data Exchange (ETDEWEB)

    Ljusev, P.; Andersen, M.A.E.

    2005-07-01

    This paper proposes a new active clamp for HF-link converters, which features very high efficiency by returning the clamped energy back to the primary side through a small auxiliary converter. It also increases the reliability of HF-link converters by providing an alternative load current path during malfunctions of the secondary bidirectional bridge. The feasibility of the approach is shown on audio power amplifier prototype. New integrated magnetics design is presented that incorporates both the main power and auxiliary transformer on the same magnetic core. (au)

  7. Genetics Home Reference: X-linked acrogigantism

    Science.gov (United States)

    ... by a part of the brain called the hypothalamus. This hormone stimulates the release of growth hormone ... Other Diagnosis and Management Resources (4 links) American Cancer Society: How are Pituitary Tumors Diagnosed? American Cancer ...

  8. Genetics Home Reference: X-linked dystonia-parkinsonism

    Science.gov (United States)

    ... putamen. These regions are critical for normal movement, learning, and memory. It is unclear why the effects ... Uncontrolled or Slow Health Topic: Dystonia Health Topic: Movement Disorders Genetic and Rare Diseases Information Center (1 link) ...

  9. Genetics Home Reference: X-linked severe combined immunodeficiency

    Science.gov (United States)

    ... Severe Combined Immunodeficiency National Institute of Allergy and Infectious Diseases: Primary Immune Deficiency Diseases Educational Resources (6 links) Boston Children's Hospital Genetic Science Learning Center, University of Utah Great Ormond ...

  10. Immunocompetence in Drosophila: linking genetic to phenotypic ...

    Indian Academy of Sciences (India)

    Unknown

    ally infected with the gram-negative bacterium Serratia marcescens at different times of the day (morning or even- ing). The pathogen load was subsequently determined by crushing the flies followed by quantitative plating (colony count) at 7, 15, 26 and 39 h after infection. The results showed that line (second chromosome) ...

  11. GENETIC ALGORITHM BASED CONCEPT DESIGN TO OPTIMIZE NETWORK LOAD BALANCE

    Directory of Open Access Journals (Sweden)

    Ashish Jain

    2012-07-01

    Full Text Available Multiconstraints optimal network load balancing is an NP-hard problem and it is an important part of traffic engineering. In this research we balance the network load using classical method (brute force approach and dynamic programming is used but result shows the limitation of this method but at a certain level we recognized that the optimization of balanced network load with increased number of nodes and demands is intractable using the classical method because the solution set increases exponentially. In such case the optimization techniques like evolutionary techniques can employ for optimizing network load balance. In this paper we analyzed proposed classical algorithm and evolutionary based genetic approach is devise as well as proposed in this paper for optimizing the balance network load.

  12. Human genetic studies in areas of high natural radiation VI. Genetical load and ethnic group

    International Nuclear Information System (INIS)

    Freire-Maia, A.

    1974-01-01

    The load of mutations disclosed by inbreeding, according to the ethnic group of the parents, has been analyzed in our data. Besides the total of the population, a sample with no alien ancestrals has also been analyzed. Genetic load has been studied for absortions, still births, pos-natal mortality, total mortality, anomalies, total mortality + anomalies, and abnormalities in general [pt

  13. Optimal design of link systems using successive zooming genetic algorithm

    Science.gov (United States)

    Kwon, Young-Doo; Sohn, Chang-hyun; Kwon, Soon-Bum; Lim, Jae-gyoo

    2009-07-01

    Link-systems have been around for a long time and are still used to control motion in diverse applications such as automobiles, robots and industrial machinery. This study presents a procedure involving the use of a genetic algorithm for the optimal design of single four-bar link systems and a double four-bar link system used in diesel engine. We adopted the Successive Zooming Genetic Algorithm (SZGA), which has one of the most rapid convergence rates among global search algorithms. The results are verified by experiment and the Recurdyn dynamic motion analysis package. During the optimal design of single four-bar link systems, we found in the case of identical input/output (IO) angles that the initial and final configurations show certain symmetry. For the double link system, we introduced weighting factors for the multi-objective functions, which minimize the difference between output angles, providing balanced engine performance, as well as the difference between final output angle and the desired magnitudes of final output angle. We adopted a graphical method to select a proper ratio between the weighting factors.

  14. Hypothetical link between infertility and genetically modified food.

    Science.gov (United States)

    Gao, Mingxia; Li, Bin; Yuan, Wenzhen; Zhao, Lihui; Zhang, Xuehong

    2014-01-01

    It is speculated that genetically modified food (GMF)/genetically modified organism (GMO) is responsible for infertility development. The risk linked with a wide use of GMFs/GMOs offers the basic elements for social criticism. However, to date, it has not been justified whether the bad effects are directly resulted from products of genetic modifications or trans-genesis process. Extensive experience with the risk assessment of whole foods has been applied recently on the safety and nutritional testing of GMFs/GMOs. Investigations have tested the safety of GMFs including sub-acute, chronic, reproductive, multi-generation and carcinogenicity studies. We extrapolated the potential risks associated with GMFs/GMOs on reproduction, and analyzed the multi-aspect linked between infertility and GMFs/GMOs. It could be conjectured that GMFs/GMOs could be potential hazard on reproduction, linking to the development of infertility through influencing the endocrine metabolism, endometriosis. However, little evidence shows the impaction on embryo or reproductive related tumor due to the limited literatures, and needs further research. The article presents some related patents on GMFs/GMOs, and some methods for tracking GMOs.

  15. Intelligent DNA-based molecular diagnostics using linked genetic markers

    Energy Technology Data Exchange (ETDEWEB)

    Pathak, D.K.; Perlin, M.W.; Hoffman, E.P.

    1994-12-31

    This paper describes a knowledge-based system for molecular diagnostics, and its application to fully automated diagnosis of X-linked genetic disorders. Molecular diagnostic information is used in clinical practice for determining genetic risks, such as carrier determination and prenatal diagnosis. Initially, blood samples are obtained from related individuals, and PCR amplification is performed. Linkage-based molecular diagnosis then entails three data analysis steps. First, for every individual, the alleles (i.e., DNA composition) are determined at specified chromosomal locations. Second, the flow of genetic material among the individuals is established. Third, the probability that a given individual is either a carrier of the disease or affected by the disease is determined. The current practice is to perform each of these three steps manually, which is costly, time consuming, labor-intensive, and error-prone. As such, the knowledge-intensive data analysis and interpretation supersede the actual experimentation effort as the major bottleneck in molecular diagnostics. By examining the human problem solving for the task, we have designed and implemented a prototype knowledge-based system capable of fully automating linkage-based molecular diagnostics in X-linked genetic disorders, including Duchenne Muscular Dystrophy (DMD). Our system uses knowledge-based interpretation of gel electrophoresis images to determine individual DNA marker labels, a constraint satisfaction search for consistent genetic flow among individuals, and a blackboard-style problem solver for risk assessment. We describe the system`s successful diagnosis of DMD carrier and affected individuals from raw clinical data.

  16. Does Multiplicity Replace Renormalization and Link Genetics too?

    Science.gov (United States)

    Goradia, Shantilal

    2007-04-01

    The substitution of sixty orders of magnitude, the age of the universe in Planck times, for W in entropy equation S = ln W, yields 138, close to the reciprocal of fine-structure constant (137) consistent with (1) Einstein's 1919 retraction of cosmological constant, (2) non-decreasing nature of entropy (3) Gamow's view. I link cosmology and Boltzmann statistics in terms of encryption in sequences of the OPEN and CLOSED states (or their superposition) pictorially shown in fig 1 [1]. I take an algorithmic approach to explain the expression of genetic information in cloning in terms of black hole information theory via Planck scale and flexible Einstein Rosen bridges linking physical particles of genetic tape with spacetime. Einstein's retraction of cosmological constant, long before Hubble's finding, surprised me, possibly you and Mike Turner too, during my last encounter with Mike at NDU. In 1919, Einstein addressed multiplicity, not GR. Unlike later papers on MOND without dark matter, I use no renormalization tricks in v2 of [1]. [1] physics/0210040 v3 (Jan 2007). To cite this abstract, use the following reference: http://meetings.aps.org/link/BAPS.2007.NES07.C1.7

  17. Green IGP Link Weights for Energy-efficiency and Load-balancing in IP Backbone Networks

    OpenAIRE

    Francois, Frederic; Wang, Ning; Moessner, Klaus; Georgoulas, Stylianos; Xu, Ke

    2013-01-01

    The energy consumption of backbone networks has become a primary concern for network operators and regulators due to the pervasive deployment of wired backbone networks to meet the requirements of bandwidth-hungry applications. While traditional optimization of IGP link weights has been used in IP based load-balancing operations, in this paper we introduce a novel link weight setting algorithm, the Green Load-balancing Algorithm (GLA), which is able to jointly optimize both energy efficiency ...

  18. Genetic evidence linking lung cancer and COPD: a new perspective

    Directory of Open Access Journals (Sweden)

    Crapo JD

    2011-07-01

    Full Text Available Robert P Young1,4, Raewyn J Hopkins1, Gregory D Gamble1, Carol Etzel2, Randa El-Zein2, James D Crapo31Department of Medicine and School of Biological Sciences, University of Auckland, Auckland, New Zealand; 2Department of Epidemiology, UT MD Anderson Cancer Center, Houston, TX, USA; 3National Jewish Health, Denver, CO, USA; 4Synergenz Biosciences Ltd, Auckland, New ZealandAbstract: Epidemiological studies indicate that tobacco smoke exposure accounts for nearly 90% of cases of chronic obstructive pulmonary disease (COPD and lung cancer. However, genetic factors may explain why 10%–30% of smokers develop these complications. This perspective reviews the evidence suggesting that COPD is closely linked to susceptibility to lung cancer and outlines the potential relevance of this observation. Epidemiological studies show that COPD is the single most important risk factor for lung cancer among smokers and predates lung cancer in up to 80% of cases. Genome-wide association studies of lung cancer, lung function, and COPD have identified a number of overlapping “susceptibility” loci. With stringent phenotyping, it has recently been shown that several of these overlapping loci are independently associated with both COPD and lung cancer. These loci implicate genes underlying pulmonary inflammation and apoptotic processes mediated by the bronchial epithelium, and link COPD with lung cancer at a molecular genetic level. It is currently possible to derive risk models for lung cancer that incorporate lung cancer-specific genetic variants, recently identified “COPD-related” genetic variants, and clinical variables. Early studies suggest that single nucleotide polymorphism-based risk stratification of smokers might help better target novel prevention and early diagnostic strategies in lung cancer.Keywords: lung cancer, chronic obstructive pulmonary disease, association study, single nucleotide polymorphism, risk model

  19. Find the weakest link. A comparison between demographic, genetic and demo-genetic metapopulation extinction times

    Directory of Open Access Journals (Sweden)

    Robert Alexandre

    2011-09-01

    Full Text Available Abstract Background While the ultimate causes of most species extinctions are environmental, environmental constraints have various secondary consequences on evolutionary and ecological processes. The roles of demographic, genetic mechanisms and their interactions in limiting the viabilities of species or populations have stirred much debate and remain difficult to evaluate in the absence of demography-genetics conceptual and technical framework. Here, I computed projected times to metapopulation extinction using (1 a model focusing on the effects of species properties, habitat quality, quantity and temporal variability on the time to demographic extinction; (2 a genetic model focusing on the dynamics of the drift and inbreeding loads under the same species and habitat constraints; (3 a demo-genetic model accounting for demographic-genetic processes and feedbacks. Results Results indicate that a given population may have a high demographic, but low genetic viability or vice versa; and whether genetic or demographic aspects will be the most limiting to overall viability depends on the constraints faced by the species (e.g., reduction of habitat quantity or quality. As a consequence, depending on metapopulation or species characteristics, incorporating genetic considerations to demographically-based viability assessments may either moderately or severely reduce the persistence time. On the other hand, purely genetically-based estimates of species viability may either underestimate (by neglecting demo-genetic interactions or overestimate (by neglecting the demographic resilience true viability. Conclusion Unbiased assessments of the viabilities of species may only be obtained by identifying and considering the most limiting processes (i.e., demography or genetics, or, preferentially, by integrating them.

  20. Successful biological invasion despite a severe genetic load.

    Directory of Open Access Journals (Sweden)

    Amro Zayed

    2007-09-01

    Full Text Available Understanding the factors that influence the success of ecologically and economically damaging biological invasions is of prime importance. Recent studies have shown that invasive populations typically exhibit minimal, if any, reductions in genetic diversity, suggesting that large founding populations and/or multiple introductions are required for the success of biological invasions, consistent with predictions of the propagule pressure hypothesis. Through population genetic analysis of neutral microsatellite markers and a gene experiencing balancing selection, we demonstrate that the solitary bee Lasioglossum leucozonium experienced a single and severe bottleneck during its introduction from Europe. Paradoxically, the success of L. leucozonium in its introduced range occurred despite the severe genetic load caused by single-locus complementary sex-determination that still turns 30% of female-destined eggs into sterile diploid males, thereby substantially limiting the growth potential of the introduced population. Using stochastic modeling, we show that L. leucozonium invaded North America through the introduction of a very small number of propagules, most likely a singly-mated female. Our results suggest that chance events and ecological traits of invaders are more important than propagule pressure in determining invasion success, and that the vigilance required to prevent invasions may be considerably greater than has been previously considered.

  1. Genetic load makes cancer cells more sensitive to common drugs: evidence from Cancer Cell Line Encyclopedia.

    Science.gov (United States)

    Pavel, Ana B; Korolev, Kirill S

    2017-05-16

    Genetic alterations initiate tumors and enable the evolution of drug resistance. The pro-cancer view of mutations is however incomplete, and several studies show that mutational load can reduce tumor fitness. Given its negative effect, genetic load should make tumors more sensitive to anticancer drugs. Here, we test this hypothesis across all major types of cancer from the Cancer Cell Line Encyclopedia, which provides genetic and expression data of 496 cell lines together with their response to 24 common anticancer drugs. We found that the efficacy of 9 out of 24 drugs showed significant association with genetic load in a pan-cancer analysis. The associations for some tissue-drug combinations were remarkably strong, with genetic load explaining up to 83% of the variance in the drug response. Overall, the role of genetic load depended on both the drug and the tissue type with 10 tissues being particularly vulnerable to genetic load. We also identified changes in gene expression associated with increased genetic load, which included cell-cycle checkpoints, DNA damage and apoptosis. Our results show that genetic load is an important component of tumor fitness and can predict drug sensitivity. Beyond being a biomarker, genetic load might be a new, unexplored vulnerability of cancer.

  2. Molecular and genetic basis of X-linked immunodeficiency disorders

    Energy Technology Data Exchange (ETDEWEB)

    Puck, J.M. (National Center for Human Genome Research, Bethesda, MD (United States))

    1994-03-01

    Within a short time interval the specific gene defects causing three X-linked human immunodeficiencies, agammaglobulinemia (XLA), hyper-IgM syndrome (HIGM), and severe combined immunodeficiency (XSCID), have been identified. These represent the first human disease phenotypes associated with each of three gene families already recognized to be important in lymphocyte development and signaling: XLA is caused by mutations of a B cell-specific intracellular tyrosine kinase; HIGM, by mutations in the TNF-related CD40 ligand, through which T cells deliver helper signals by direct contact with B cell CD40; and XSCID, by mutations in the [gamma] chain of the lymphocyte receptor for IL-2. Each patient mutation analyzed to date has been unique, representing both a challenge for genetic diagnosis and management and an important resource for dissecting molecular domains and understanding the physiologic function of the gene products.

  3. Pitch link loads reduction of variable speed rotors by variable tuning frequency fluidlastic isolators

    Directory of Open Access Journals (Sweden)

    Han Dong

    2015-10-01

    Full Text Available To reduce the pitch link loads of variable speed rotors, variable tuning frequency fluidlastic isolators are proposed. This isolator utilizes the variation of centrifugal force due to the change of rotor speed to change the tuning port area ratio, which can change the tuning frequency of the isolator. A rotor model including the model of fluidlastic isolator is coupled with a fuselage model to predict the steady responses of the rotor system in forward flight. The aeroelastic analyses indicate that distinct performance improvement in pitch link load control can be achieved by the utilization of variable frequency isolators compared with the constant tuning frequency isolators. The 4/rev (per revolution pitch link load is observed to be reduced by 87.6% compared with the increase of 56.3% by the constant frequency isolator, when the rotor speed is reduced by 16.7%. The isolation ability at different rotor speeds in different flight states is investigated. To achieve overall load reduction within the whole range of rotor speed, the strategy of the variation of tuning frequency is adjusted. The results indicate that the 4/rev pitch link load within the whole rotor speed range is decreased.

  4. Linking genetic variants of the mineralocorticoid receptor and negative memory bias: Interaction with prior life adversity

    NARCIS (Netherlands)

    Vogel, S.; Gerritsen, L.; Oostrom, I.I.H. van; Arias Vasquez, A.; Rijpkema, M.J.P.; Joels, M.; Franke, B.; Tendolkar, I.; Fernandez, G.S.E.

    2014-01-01

    Substantial research has been conducted investigating the association between life adversity and genetic vulnerability for depression, but clear mechanistic links are rarely identified and investigation often focused on single genetic variants. Complex phenotypes like depression, however, are likely

  5. Genetics Home Reference: X-linked intellectual disability, Siderius type

    Science.gov (United States)

    ... X-linked intellectual disability, Siderius type X-linked intellectual disability, Siderius type Printable PDF Open All Close All ... view the expand/collapse boxes. Description X-linked intellectual disability, Siderius type is a condition characterized by mild ...

  6. Genetics Home Reference: X-linked sideroblastic anemia

    Science.gov (United States)

    ... Conditions X-linked sideroblastic anemia X-linked sideroblastic anemia Printable PDF Open All Close All Enable Javascript ... the expand/collapse boxes. Description X-linked sideroblastic anemia is an inherited disorder that prevents developing red ...

  7. Genetics Home Reference: X-linked sideroblastic anemia and ataxia

    Science.gov (United States)

    ... linked sideroblastic anemia and ataxia X-linked sideroblastic anemia and ataxia Printable PDF Open All Close All ... the expand/collapse boxes. Description X-linked sideroblastic anemia and ataxia is a rare condition characterized by ...

  8. X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects.

    Science.gov (United States)

    Kemp, Stephan; Berger, Johannes; Aubourg, Patrick

    2012-09-01

    X-linked adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disease. The two main clinical phenotypes of X-ALD are adrenomyeloneuropathy (AMN) and inflammatory cerebral ALD that manifests either in children or more rarely in adults. About 65% of heterozygote females develop symptoms by the age of 60years. Mutations in the ABCD1 gene affect the function of the encoded protein ALDP, an ATP-binding-cassette (ABC) transporter located in the peroxisomal membrane protein. ALDP deficiency impairs the peroxisomal beta-oxidation of very long-chain fatty acids (VLCFA) and facilitates their further chain elongation by ELOVL1 resulting in accumulation of VLCFA in plasma and tissues. While all patients have mutations in the ABCD1 gene, there is no general genotype-phenotype correlation. Environmental factors and a multitude of modifying genes appear to determine the clinical manifestation in this monogenetic but multifactorial disease. This review focuses on the clinical, biochemical, genetic and pathophysiological aspects of X-ALD. Copyright © 2012 Elsevier B.V. All rights reserved.

  9. X-Linked Dystonia Parkinsonism: Clinical Phenotype, Genetics and Therapeutics

    Directory of Open Access Journals (Sweden)

    Raymond L. Rosales

    2010-10-01

    Full Text Available The clinical phenotype of X-Linked Dystonia Parkinsonism (XDP is typically one that involves a Filipino adult male whose ancestry is mostly traced in the Philippine island of Panay. Dystonia usually starts focally in the lower limbs or oromandibular regions, then spreads to become generalized eventually. Parkinsonism sets in later into the disease and usually in combination with dystonia. /DYT3/ and /TAF1/ are the two genes associated with XDP. An SVA retrotransposon insertion in an intron of /TAF1/ may reduce neuron-specific expression of the /TAF1/ isoform in the caudate nucleus, and subsequently interfere with the transcription of many neuronal genes. Polypharmacy with oral benzodiazepines, anticholinergic agents and muscle relaxants leaves much to be desired in terms of efficacy. The medications to date that may appear beneficial, especially in disabling dystonias, are zolpidem, muscle afferent block with lidocaine-ethanol and botulinum toxin type A. Despite the few cases undergoing deep brain stimulation, this functional surgery has shown the greatest promise in XDP. An illustrative case of XDP in a family depicts the variable course of illness, including a bout of “status dystonicus,” challenges in therapy, reckoning with the social impact of the disease, and eventual patient demise. Indeed, there remains some gaps in understanding some phenomenological, genetic and treatment aspects of XDP, the areas upon which future research directions may be worthwhile.

  10. Human genetic studies in areas of high natural radiation. VIII. Genetic load not related to radiation

    Energy Technology Data Exchange (ETDEWEB)

    Freire-Maia, A.; Krieger, H. (Faculdade de Ciencias Medicas e Biologicas, Botucatu, Sao Paulo (Brazil))

    1975-05-01

    The genetic load disclosed by inbreeding has been analyzed in a multiple regression model for a population involving several localities in the state of Espirito Santo, Brazil. The inbreeding load has been estimated for number of pregnancies, abortions, stillbirths, children born alive, anomalies in general, sex ratio, infant mortality, post-infant mortality, and sterility and infertility of the couple. There was no evidence of either maternal or paternal inbreeding effects on the variables analyzed. The effect of inbreeding of the zygote was significant only for anomalies in general (B = 2.29 +/- 0.45) and infant mortality (B = 3.19 +/- 1.39). The latter result must be accepted with caution because of the many environmental causes affecting infant mortality. The B/A ratio suggested a predominantly mutational load for anomalies in general (B/A = 25), but with respect to infant mortality (B/A = 6), the ratio is regarded as an underestimate because of the environmental contribution to A and therefore not supportive of the segregational interpretation.

  11. Genetics Home Reference: X-linked juvenile retinoschisis

    Science.gov (United States)

    ... Juvenile Retinoschisis ClinicalTrials.gov (1 link) ClinicalTrials.gov Scientific Articles on PubMed (1 link) PubMed OMIM (1 link) ... 42(6):e35. Citation on PubMed or Free article on PubMed ... Capone A Jr, Ciaccia S, Takada Y, Sieving PA, Trese MT. Congenital X-linked retinoschisis classification ...

  12. Preparation and biological activity studies of resveratrol loaded ionically cross-linked chitosan-TPP nanoparticles.

    Science.gov (United States)

    Wu, Jie; Wang, Yaping; Yang, Hao; Liu, Xiangyu; Lu, Zhong

    2017-11-01

    Nanoparticles with size range of 10-500nm can be efficiently delivered into cancer cells by the Enhanced Permeability and Retention (EPR) effect. Here, we prepared resveratrol (Res) loaded chitosan (CS) nanoparticles with the size of 172-217nm by an ionic cross-linking method, with sodium tripolyphosphate (TPP) as the cross-linking agent, to improve the stability, solubility and tumors targeting of the natural anti-cancer drug Res. The prepared Res loaded CS-TPP nanoparticles presented long-term storage stability and UV light stability. The cumulative drug release from nanoparticles in mimetic tumor tissue condition (pH 6.5) was higher than that in physiological condition (pH 7.4). Further, Res-loaded CS-TPP nanoparticles maintained the antioxidant activity of Res even after UV light irradiation. Cell viability study shows that the as prepared drug loaded nanoparticles had similar antiproliferative activity on hepatocellular carcinoma cells SMMC 7721 and lower cytotoxicity on normal hepatocyte cells L02 compared with free Res. Fluorescence microscopy observation revealed that the nanoparticles were efficiently taken in by SMMC 7721 cells. This work indicates the potential use of drug loaded CS-TPP nanoparticles for the efficient delivery of bioactive Res for chemotherapy. Copyright © 2017 Elsevier Ltd. All rights reserved.

  13. Analysis of host genetic diversity and viral entry as sources of between-host variation in viral load

    Science.gov (United States)

    Wargo, Andrew R.; Kell, Alison M.; Scott, Robert J.; Thorgaard, Gary H.; Kurath, Gael

    2012-01-01

    Little is known about the factors that drive the high levels of between-host variation in pathogen burden that are frequently observed in viral infections. Here, two factors thought to impact viral load variability, host genetic diversity and stochastic processes linked with viral entry into the host, were examined. This work was conducted with the aquatic vertebrate virus, Infectious hematopoietic necrosis virus (IHNV), in its natural host, rainbow trout. It was found that in controlled in vivo infections of IHNV, a suggestive trend of reduced between-fish viral load variation was observed in a clonal population of isogenic trout compared to a genetically diverse population of out-bred trout. However, this trend was not statistically significant for any of the four viral genotypes examined, and high levels of fish-to-fish variation persisted even in the isogenic trout population. A decrease in fish-to-fish viral load variation was also observed in virus injection challenges that bypassed the host entry step, compared to fish exposed to the virus through the natural water-borne immersion route of infection. This trend was significant for three of the four virus genotypes examined and suggests host entry may play a role in viral load variability. However, high levels of viral load variation also remained in the injection challenges. Together, these results indicate that although host genetic diversity and viral entry may play some role in between-fish viral load variation, they are not major factors. Other biological and non-biological parameters that may influence viral load variation are discussed.

  14. Exploring the genetic link between RLS and ADHD.

    Science.gov (United States)

    Schimmelmann, B G; Friedel, S; Nguyen, T T; Sauer, S; Ganz Vogel, C I; Konrad, K; Wilhelm, C; Sinzig, J; Renner, T J; Romanos, M; Palmason, H; Dempfle, A; Walitza, S; Freitag, C; Meyer, J; Linder, M; Schäfer, H; Warnke, A; Lesch, K P; Herpertz-Dahlman, B; Hinney, A; Hebebrand, J

    2009-07-01

    Attention deficit/hyperactivity disorder (ADHD) is a highly heritable neurodevelopmental disorder of childhood onset. Clinical and biological evidence points to shared common central nervous system (CNS) pathology of ADHD and restless legs syndrome (RLS). It was hypothesized that variants previously found to be associated with RLS in two large genome-wide association studies (GWA), will also be associated with ADHD. SNPs located in MEIS1 (rs2300478), BTBD9 (rs9296249, rs3923809, rs6923737), and MAP2K5 (rs12593813, rs4489954) as well as three SNPs tagging the identified haplotype in MEIS1 (rs6710341, rs12469063, rs4544423) were genotyped in a well characterized German sample of 224 families comprising one or more affected sibs (386 children) and both parents. We found no evidence for preferential transmission of the hypothesized variants to ADHD. Subsequent analyses elicited nominal significant association with haplotypes consisting of the three SNPs in BTBD9 (chi2 = 14.8, df = 7, nominal p = 0.039). According to exploratory post hoc analyses, the major contribution to this finding came from the A-A-A-haplotype with a haplotype-wise nominal p-value of 0.009. However, this result did not withstand correction for multiple testing. In view of our results, RLS risk alleles may have a lower effect on ADHD than on RLS or may not be involved in ADHD. The negative findings may additionally result from genetic heterogeneity of ADHD, i.e. risk alleles for RLS may only be relevant for certain subtypes of ADHD. Genes relevant to RLS remain interesting candidates for ADHD; particularly BTBD9 needs further study, as it has been related to iron storage, a potential pathophysiological link between RLS and certain subtypes of ADHD.

  15. Studying disease-linked phenotypes using haploid genetics

    NARCIS (Netherlands)

    Blomen, Vincent A.

    2017-01-01

    Although genes are unequivocally important for the development of both common and rare human diseases, the connection between the genotype (an individual’s genetic makeup) and phenotype (an individual’s observable traits) is often ill-defined. Even genetic disorders caused by a defect in only a

  16. Genetics Home Reference: X-linked chondrodysplasia punctata 1

    Science.gov (United States)

    ... Miranda C, Maeda M, Chen L, Allanson J, Armour C, Greene C, Kamaluddeen M, Rita D, Medne ... qualified healthcare professional . About Selection Criteria for Links Data Files & API Site Map Subscribe Customer Support USA. ...

  17. Genetics Home Reference: X-linked creatine deficiency

    Science.gov (United States)

    ... Resources (3 links) Association for Creatine Deficiencies Children Living with Inherited Metabolic Diseases ... Braissant O, Henry H, Béard E, Uldry J. Creatine deficiency syndromes and the importance of creatine synthesis in the brain. Amino Acids. ...

  18. Discrimination and anger control as pathways linking socioeconomic disadvantage to allostatic load in midlife.

    Science.gov (United States)

    Zilioli, Samuele; Imami, Ledina; Ong, Anthony D; Lumley, Mark A; Gruenewald, Tara

    2017-12-01

    Recent evidence suggests that experiences of discrimination contribute to socioeconomic status health disparities. The current study examined if the experience and regulation of anger-an expected emotional response to discrimination-serves as an explanatory factor for the previously documented links between socioeconomic disadvantage (SED), discrimination, and allostatic load. Data were drawn from the second wave of the Midlife in the United States (MIDUS) study and included 909 adults who participated in the biomarkers subproject. Results revealed that perceived discrimination was associated with higher levels of allostatic load. Furthermore, we found evidence that perceived discrimination and anger control sequentially explained the relationship between SED and allostatic load, such that greater discrimination was associated with lower levels of anger control, which, in turn accounted for the effects of discrimination on allostatic load. These results remained significant after controlling for negative affect, positive affect, other forms of anger expression, as well as demographic covariates. Our findings suggest that low anger control may be an important psychological pathway through which experiences of discrimination influence health. Copyright © 2017 Elsevier Inc. All rights reserved.

  19. Detecting the genetic link between Alzheimer's disease and obesity using bioinformatics analysis of GWAS data

    OpenAIRE

    Zhuang, Qi-Shuai; Zheng, Hao; Gu, Xiao-Dan; Shen, Liang; Ji, Hong-Fang

    2017-01-01

    Alzheimer's disease (AD) represents the major form of dementia in the elderly. In recent years, accumulating evidence indicate that obesity may act as a risk factor for AD, while the genetic link between the two conditions remains unclear. This bioinformatics analysis aimed to detect the genetic link between AD and obesity on single nucleotide polymorphisms (SNPs), gene, and pathway levels based on genome-wide association studies data. A total of 31 SNPs were found to be shared by AD and obes...

  20. Questioning South Africa's 'genetic link' requirement for surrogacy

    African Journals Online (AJOL)

    2014-05-02

    May 2, 2014 ... intelligence, memory, patience, beauty and related traits that tend to confer competitive advantage. Perhaps in such a society children would be 'reduced to' their genetic potential and not given the freedom to act in accordance with their own desires. Maybe there would be even more systematic kinds of ...

  1. Missing Links in Genes to Traits: Toward Teaching for an Integrated Framework of Genetics

    Science.gov (United States)

    Pavlova, Iglika V.; Kreher, Scott A.

    2013-01-01

    Genetics, one of the most influential fields, underlies all of biology and produces discoveries that are in the news daily. However, many students leave introductory biology and genetics courses lacking a coherent framework of knowledge to use in their daily lives. We identify substantial "missing links" in the teaching of foundational…

  2. A multi-objective genetic approach to domestic load scheduling in an energy management system

    International Nuclear Information System (INIS)

    Soares, Ana; Antunes, Carlos Henggeler; Oliveira, Carlos; Gomes, Álvaro

    2014-01-01

    In this paper a multi-objective genetic algorithm is used to solve a multi-objective model to optimize the time allocation of domestic loads within a planning period of 36 h, in a smart grid context. The management of controllable domestic loads is aimed at minimizing the electricity bill and the end-user’s dissatisfaction concerning two different aspects: the preferred time slots for load operation and the risk of interruption of the energy supply. The genetic algorithm is similar to the Elitist NSGA-II (Nondominated Sorting Genetic Algorithm II), in which some changes have been introduced to adapt it to the physical characteristics of the load scheduling problem and improve usability of results. The mathematical model explicitly considers economical, technical, quality of service and comfort aspects. Illustrative results are presented and the characteristics of different solutions are analyzed. - Highlights: • A genetic algorithm similar to the NSGA-II is used to solve a multi-objective model. • The optimized time allocation of domestic loads in a smart grid context is achieved. • A variable preference profile for the operation of the managed loads is included. • A safety margin is used to account for the quality of the energy services provided. • A non-dominated front with the solutions in the two-objective space is obtained

  3. X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects

    NARCIS (Netherlands)

    Kemp, Stephan; Berger, Johannes; Aubourg, Patrick

    2012-01-01

    X-linked adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disease. The two main clinical phenotypes of X-ALD are adrenomyeloneuropathy (AMN) and inflammatory cerebral ALD that manifests either in children or more rarely in adults. About 65% of heterozygote females develop symptoms by

  4. Multiobjective Economic Load Dispatch in 3-D Space by Genetic Algorithm

    Science.gov (United States)

    Jain, N. K.; Nangia, Uma; Singh, Iqbal

    2017-10-01

    This paper presents the application of genetic algorithm to Multiobjective Economic Load Dispatch (MELD) problem considering fuel cost, transmission losses and environmental pollution as objective functions. The MELD problem has been formulated using constraint method. The non-inferior set for IEEE 5, 14 and 30-bus system has been generated by using genetic algorithm and the target point has been obtained by using maximization of minimum relative attainments.

  5. A Web-Based Tool to Interpolate Nitrogen Loading Using a Genetic Algorithm

    Directory of Open Access Journals (Sweden)

    Youn Shik Park

    2014-09-01

    Full Text Available Water quality data may not be collected at a high frequency, nor over the range of streamflow data. For instance, water quality data are often collected monthly, biweekly, or weekly, since collecting and analyzing water quality samples are costly compared to streamflow data. Regression models are often used to interpolate pollutant loads from measurements made intermittently. Web-based Load Interpolation Tool (LOADIN was developed to provide user-friendly interfaces and to allow use of streamflow and water quality data from U.S. Geological Survey (USGS via web access. LOADIN has a regression model assuming that instantaneous load is comprised of the pollutant load based on streamflow and the pollutant load variation within the period. The regression model has eight coefficients determined by a genetic algorithm with measured water quality data. LOADIN was applied to eleven water quality datasets from USGS gage stations located in Illinois, Indiana, Michigan, Minnesota, and Wisconsin states with drainage areas from 44 km2 to 1,847,170 km2. Measured loads were calculated by multiplying nitrogen data by streamflow data associated with measured nitrogen data. The estimated nitrogen loads and measured loads were evaluated using Nash-Sutcliffe Efficiency (NSE and coefficient of determination (R2. NSE ranged from 0.45 to 0.91, and R2 ranged from 0.51 to 0.91 for nitrogen load estimation.

  6. Dealing with the genetic load in bacterial synthetic biology circuits: convergences with the Ohm's law.

    Science.gov (United States)

    Carbonell-Ballestero, M; Garcia-Ramallo, E; Montañez, R; Rodriguez-Caso, C; Macía, J

    2016-01-08

    Synthetic biology seeks to envision living cells as a matter of engineering. However, increasing evidence suggests that the genetic load imposed by the incorporation of synthetic devices in a living organism introduces a sort of unpredictability in the design process. As a result, individual part characterization is not enough to predict the behavior of designed circuits and thus, a costly trial-error process is eventually required. In this work, we provide a new theoretical framework for the predictive treatment of the genetic load. We mathematically and experimentally demonstrate that dependences among genes follow a quantitatively predictable behavior. Our theory predicts the observed reduction of the expression of a given synthetic gene when an extra genetic load is introduced in the circuit. The theory also explains that such dependence qualitatively differs when the extra load is added either by transcriptional or translational modifications. We finally show that the limitation of the cellular resources for gene expression leads to a mathematical formulation that converges to an expression analogous to the Ohm's law for electric circuits. Similitudes and divergences with this law are outlined. Our work provides a suitable framework with predictive character for the design process of complex genetic devices in synthetic biology. © The Author(s) 2015. Published by Oxford University Press on behalf of Nucleic Acids Research.

  7. Genetic association in chronic periodontitis through dermatoglyphics: An unsolved link?

    Directory of Open Access Journals (Sweden)

    Sowmya Astekar

    2017-01-01

    Full Text Available Introduction: Because dermatoglyphic features are strongly affected by genetic and environmental factors, using it as supportive evidence in the diagnosis of hereditary disorders becomes a reality. Offspring of patients suffering from chronic periodontitis have a high prevalence rate of periodontal breakdown, suggesting strong familial influence. Aims: The present study intends to evaluate and compare the dermatoglyphic patterns in controls and periodontally compromised patients. Settings and Design: A hospital based cross-sectional study was conducted, including a total of 60 individuals, divided into study and control groups of 30 each. The study group included clinically diagnosed periodontitis patients.Materials and Methods: The digital prints were collected using biometric scanner and palmer prints using digital flatbed scanner. Care was taken to ensure that full prints of ridges were obtained. The periodontal status of all 60 participants was assessed clinically for attachment level and pocket depth. Later, Russell's periodontal index was also calculated. Statistical Analysis: The data obtained was subjected to statistical analysis using chi square and Student's t-test. Results: Among the finger ridge patterns, whorl pattern was found to be the most common in the study group whereas loop pattern was the most common in the control group. Mean total finger ridge count in the study group (165.69 ± 25.30 was significantly higher (P = 0.001 than the control group (125.4 ± 16.38. Mean dat angle was significantly higher (P = 0.039 in the study group (60.60 ± 2.76 than the control group (59.20 ± 2.62. Conclusion: Dermatoglyphics may serve as an early predictor in identifying high risk group individuals of developing diseases like periodontitis.

  8. The Genetics of Loneliness : Linking Evolutionary Theory to Genome-Wide Genetics, Epigenetics, and Social Science

    NARCIS (Netherlands)

    Goossens, Luc; van Roekel, Eeske; Verhagen, Maaike; Cacioppo, John T.; Cacioppo, Stephanie; Maes, Marlies; Boomsma, Dorret I.

    As a complex trait, loneliness is likely to be influenced by the interplay of numerous genetic and environmental factors. Studies in behavioral genetics indicate that loneliness has a sizable degree of heritability. Candidate-gene and gene-expression studies have pointed to several genes related to

  9. The Genetics of Loneliness: Linking Evolutionary Theory to Genome-Wide Genetics, Epigenetics, and Social Science

    NARCIS (Netherlands)

    Goossens, L.; van Roekel, E.; Verhagen, M.; Cacioppo, J.T.; Cacioppo, S.; Maes, M.; Boomsma, D.I.

    2015-01-01

    As a complex trait, loneliness is likely to be influenced by the interplay of numerous genetic and environmental factors. Studies in behavioral genetics indicate that loneliness has a sizable degree of heritability. Candidate-gene and gene-expression studies have pointed to several genes related to

  10. The genetics of loneliness: Linking evolutionary theory to genome-wide genetics, epigenetics, and social science

    NARCIS (Netherlands)

    Goossens, L.; Roekel, G.H. van; Verhagen, M.; Cacioppo, J.T.; Cacioppo, S.; Maes, M.; Boomsma, D.I.

    2015-01-01

    As a complex trait, loneliness is likely to be influenced by the interplay of numerous genetic and environmental factors. Studies in behavioral genetics indicate that loneliness has a sizable degree of heritability. Candidate-gene and gene-expression studies have pointed to several genes related to

  11. Genetic analysis of X-linked hybrid sterility in the house mouse

    Czech Academy of Sciences Publication Activity Database

    Storchová, Radka; Gregorová, Soňa; Buckiová, Daniela; Kyselová, Vendula; Divina, Petr; Forejt, Jiří

    2004-01-01

    Roč. 15, - (2004), s. 515-524 ISSN 0938-8990 R&D Projects: GA MŠk LN00A079; GA ČR GA204/02/1373 Grant - others:EU(XE) QLRI-2000-00233; HHMI(US) 555000306 Institutional research plan: CEZ:AV0Z5052915 Keywords : X-linked hybrid sterility * genetic analysis Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 2.658, year: 2004

  12. Genetic Algorithm Based Optimization of a Two Link Planar Robot Manipulator

    Directory of Open Access Journals (Sweden)

    G. Chaitanyaa

    2016-12-01

    Full Text Available A two link revolute robotic arm is optimized for maximization of work space area covered by its end effector. A mathematical model for optimization is built considering singularities which influence the variation of design variables. Condition number which is the measure of output value (End effector position for a small change in input value (joint angles is modeled as the constraint. Joint angle between link2 and link1 and link lengths are considered as design variables. The mathematical model is initially optimized using semi infinite Programming technique. Genetic Algorithm using Roulette wheel selection is employed on the nonlinear optimization model for obtaining global optimum value for the objective function. The maximum value of objective function obtained from Genetic Algorithm is found to be considerably higher than the value obtained from semi infinite programming method

  13. Ashkenazi Jews and breast cancer: the consequences of linking ethnic identity to genetic disease.

    Science.gov (United States)

    Brandt-Rauf, Sherry I; Raveis, Victoria H; Drummond, Nathan F; Conte, Jill A; Rothman, Sheila M

    2006-11-01

    We explored the advantages and disadvantages of using ethnic categories in genetic research. With the discovery that certain breast cancer gene mutations appeared to be more prevalent in Ashkenazi Jews, breast cancer researchers moved their focus from high-risk families to ethnicity. The concept of Ashkenazi Jews as genetically unique, a legacy of Tay-Sachs disease research and a particular reading of history, shaped this new approach even as methodological imprecision and new genetic and historical research challenged it. Our findings cast doubt on the accuracy and desirability of linking ethnic groups to genetic disease. Such linkages exaggerate genetic differences among ethnic groups and lead to unequal access to testing and therapy.

  14. Genetic and Environmental Links between Natural Language Use and Cognitive Ability in Toddlers

    Science.gov (United States)

    Canfield, Caitlin F.; Edelson, Lisa R.; Saudino, Kimberly J.

    2017-01-01

    Although the phenotypic correlation between language and nonverbal cognitive ability is well-documented, studies examining the etiology of the covariance between these abilities are scant, particularly in very young children. The goal of this study was to address this gap in the literature by examining the genetic and environmental links between…

  15. New genetic loci link adipose and insulin biology to body fat distribution

    NARCIS (Netherlands)

    Shungin, Dmitry; Winkler, Thomas W.; Croteau-Chonka, Damien C.; Ferreira, Teresa; Locke, Adam E.; Mägi, Reedik; Strawbridge, Rona J.; Pers, Tune H.; Fischer, Krista; Justice, Anne E.; Workalemahu, Tsegaselassie; Wu, Joseph M. W.; Buchkovich, Martin L.; Heard-Costa, Nancy L.; Roman, Tamara S.; Drong, Alexander W.; Song, Ci; Gustafsson, Stefan; Day, Felix R.; Esko, Tonu; Fall, Tove; Kutalik, Zoltán; Luan, Jian'an; Randall, Joshua C.; Scherag, André; Vedantam, Sailaja; Wood, Andrew R.; Chen, Jin; Fehrmann, Rudolf; Karjalainen, Juha; Kahali, Bratati; Liu, Ching-Ti; Schmidt, Ellen M.; Absher, Devin; Amin, Najaf; Anderson, Denise; Beekman, Marian; Bragg-Gresham, Jennifer L.; Buyske, Steven; Demirkan, Ayse; Ehret, Georg B.; Feitosa, Mary F.; Goel, Anuj; Jackson, Anne U.; Johnson, Toby; Kleber, Marcus E.; Kristiansson, Kati; Mangino, Massimo; Mateo Leach, Irene; Medina-Gomez, Carolina; Palmer, Cameron D.; Pasko, Dorota; Pechlivanis, Sonali; Peters, Marjolein J.; Prokopenko, Inga; Stančáková, Alena; Ju Sung, Yun; Tanaka, Toshiko; Teumer, Alexander; van Vliet-Ostaptchouk, Jana V.; Yengo, Loïc; Zhang, Weihua; Albrecht, Eva; Ärnlöv, Johan; Arscott, Gillian M.; Bandinelli, Stefania; Barrett, Amy; Bellis, Claire; Bennett, Amanda J.; Berne, Christian; Blüher, Matthias; Böhringer, Stefan; Bonnet, Fabrice; Böttcher, Yvonne; Bruinenberg, Marcel; Carba, Delia B.; Caspersen, Ida H.; Clarke, Robert; Daw, E. Warwick; Deelen, Joris; Deelman, Ewa; Delgado, Graciela; Doney, Alex S. F.; Eklund, Niina; Erdos, Michael R.; Estrada, Karol; Eury, Elodie; Friedrich, Nele; Garcia, Melissa E.; Giedraitis, Vilmantas; Gigante, Bruna; Go, Alan S.; Golay, Alain; Grallert, Harald; Grammer, Tanja B.; Gräßler, Jürgen; Grewal, Jagvir; Groves, Christopher J.; Haller, Toomas; Hallmans, Goran; Hartman, Catharina A.; Hassinen, Maija; Hayward, Caroline; Heikkilä, Kauko; Herzig, Karl-Heinz; Helmer, Quinta; Hillege, Hans L.; Holmen, Oddgeir; Hunt, Steven C.; Isaacs, Aaron; Ittermann, Till; James, Alan L.; Johansson, Ingegerd; Juliusdottir, Thorhildur; Kalafati, Ioanna-Panagiota; Kinnunen, Leena; Koenig, Wolfgang; Kooner, Ishminder K.; Kratzer, Wolfgang; Lamina, Claudia; Leander, Karin; Lee, Nanette R.; Lichtner, Peter; Lind, Lars; Lindström, Jaana; Lobbens, Stéphane; Lorentzon, Mattias; Mach, François; Magnusson, Patrik K. E.; Mahajan, Anubha; McArdle, Wendy L.; Menni, Cristina; Merger, Sigrun; Mihailov, Evelin; Milani, Lili; Mills, Rebecca; Moayyeri, Alireza; Monda, Keri L.; Mooijaart, Simon P.; Mühleisen, Thomas W.; Mulas, Antonella; Müller, Gabriele; Müller-Nurasyid, Martina; Nagaraja, Ramaiah; Nalls, Michael A.; Narisu, Narisu; Glorioso, Nicola; Nolte, Ilja M.; Olden, Matthias; Rayner, Nigel W.; Renstrom, Frida; Ried, Janina S.; Robertson, Neil R.; Rose, Lynda M.; Sanna, Serena; Scharnagl, Hubert; Scholtens, Salome; Sennblad, Bengt; Seufferlein, Thomas; Sitlani, Colleen M.; Vernon Smith, Albert; Stirrups, Kathleen; Stringham, Heather M.; Sundström, Johan; Swertz, Morris A.; Swift, Amy J.; Syvänen, Ann-Christine; Tayo, Bamidele O.; Thorand, Barbara; Thorleifsson, Gudmar; Tomaschitz, Andreas; Troffa, Chiara; van Oort, Floor V. A.; Verweij, Niek; Vonk, Judith M.; Waite, Lindsay L.; Wennauer, Roman; Wilsgaard, Tom; Wojczynski, Mary K.; Wong, Andrew; Zhang, Qunyuan; Hua Zhao, Jing; Brennan, Eoin P.; Choi, Murim; Eriksson, Per; Folkersen, Lasse; Franco-Cereceda, Anders; Gharavi, Ali G.; Hedman, Åsa K.; Hivert, Marie-France; Huang, Jinyan; Kanoni, Stavroula; Karpe, Fredrik; Keildson, Sarah; Kiryluk, Krzysztof; Liang, Liming; Lifton, Richard P.; Ma, Baoshan; McKnight, Amy J.; McPherson, Ruth; Metspalu, Andres; Min, Josine L.; Moffatt, Miriam F.; Montgomery, Grant W.; Murabito, Joanne M.; Nicholson, George; Nyholt, Dale R.; Olsson, Christian; Perry, John R. B.; Reinmaa, Eva; Salem, Rany M.; Sandholm, Niina; Schadt, Eric E.; Scott, Robert A.; Stolk, Lisette; Vallejo, Edgar E.; Westra, Harm-Jan; Zondervan, Krina T.; Amouyel, Philippe; Arveiler, Dominique; Bakker, Stephan J. L.; Beilby, John; Bergman, Richard N.; Blangero, John; Brown, Morris J.; Burnier, Michel; Campbell, Harry; Chakravarti, Aravinda; Chines, Peter S.; Claudi-Boehm, Simone; Collins, Francis S.; Crawford, Dana C.; Danesh, John; de Faire, Ulf; de Geus, Eco J. C.; Dörr, Marcus; Erbel, Raimund; Eriksson, Johan G.; Farrall, Martin; Ferrannini, Ele; Ferrières, Jean; Forouhi, Nita G.; Forrester, Terrence; Franco, Oscar H.; Gansevoort, Ron T.; Gieger, Christian; Gudnason, Vilmundur; Haiman, Christopher A.; Harris, Tamara B.; Hattersley, Andrew T.; Heliövaara, Markku; Hicks, Andrew A.; Hingorani, Aroon D.; Hoffmann, Wolfgang; Hofman, Albert; Homuth, Georg; Humphries, Steve E.; Hyppönen, Elina; Illig, Thomas; Jarvelin, Marjo-Riitta; Johansen, Berit; Jousilahti, Pekka; Jula, Antti M.; Kaprio, Jaakko; Kee, Frank; Keinanen-Kiukaanniemi, Sirkka M.; Kooner, Jaspal S.; Kooperberg, Charles; Kovacs, Peter; Kraja, Aldi T.; Kumari, Meena; Kuulasmaa, Kari; Kuusisto, Johanna; Lakka, Timo A.; Langenberg, Claudia; Le Marchand, Loic; Lehtimäki, Terho; Lyssenko, Valeriya; Männistö, Satu; Marette, André; Matise, Tara C.; McKenzie, Colin A.; McKnight, Barbara; Musk, Arthur W.; Möhlenkamp, Stefan; Morris, Andrew D.; Nelis, Mari; Ohlsson, Claes; Oldehinkel, Albertine J.; Ong, Ken K.; Palmer, Lyle J.; Penninx, Brenda W.; Peters, Annette; Pramstaller, Peter P.; Raitakari, Olli T.; Rankinen, Tuomo; Rao, D. C.; Rice, Treva K.; Ridker, Paul M.; Ritchie, Marylyn D.; Rudan, Igor; Salomaa, Veikko; Samani, Nilesh J.; Saramies, Jouko; Sarzynski, Mark A.; Schwarz, Peter E. H.; Shuldiner, Alan R.; Staessen, Jan A.; Steinthorsdottir, Valgerdur; Stolk, Ronald P.; Strauch, Konstantin; Tönjes, Anke; Tremblay, Angelo; Tremoli, Elena; Vohl, Marie-Claude; Völker, Uwe; Vollenweider, Peter; Wilson, James F.; Witteman, Jacqueline C.; Adair, Linda S.; Bochud, Murielle; Boehm, Bernhard O.; Bornstein, Stefan R.; Bouchard, Claude; Cauchi, Stéphane; Caulfield, Mark J.; Chambers, John C.; Chasman, Daniel I.; Cooper, Richard S.; Dedoussis, George; Ferrucci, Luigi; Froguel, Philippe; Grabe, Hans-Jörgen; Hamsten, Anders; Hui, Jennie; Hveem, Kristian; Jöckel, Karl-Heinz; Kivimaki, Mika; Kuh, Diana; Laakso, Markku; Liu, Yongmei; März, Winfried; Munroe, Patricia B.; Njølstad, Inger; Oostra, Ben A.; Palmer, Colin N. A.; Pedersen, Nancy L.; Perola, Markus; Pérusse, Louis; Peters, Ulrike; Power, Chris; Quertermous, Thomas; Rauramaa, Rainer; Rivadeneira, Fernando; Saaristo, Timo E.; Saleheen, Danish; Sinisalo, Juha; Slagboom, P. Eline; Snieder, Harold; Spector, Tim D.; Thorsteinsdottir, Unnur; Stumvoll, Michael; Tuomilehto, Jaakko; Uitterlinden, André G.; Uusitupa, Matti; van der Harst, Pim; Veronesi, Giovanni; Walker, Mark; Wareham, Nicholas J.; Watkins, Hugh; Wichmann, H.-Erich; Abecasis, Goncalo R.; Assimes, Themistocles L.; Berndt, Sonja I.; Boehnke, Michael; Borecki, Ingrid B.; Deloukas, Panos; Franke, Lude; Frayling, Timothy M.; Groop, Leif C.; Hunter, David J.; Kaplan, Robert C.; O'Connell, Jeffrey R.; Qi, Lu; Schlessinger, David; Strachan, David P.; Stefansson, Kari; van Duijn, Cornelia M.; Willer, Cristen J.; Visscher, Peter M.; Yang, Jian; Hirschhorn, Joel N.; Zillikens, M. Carola; McCarthy, Mark I.; Speliotes, Elizabeth K.; North, Kari E.; Fox, Caroline S.; Barroso, Inês; Franks, Paul W.; Ingelsson, Erik; Heid, Iris M.; Loos, Ruth J. F.; Cupples, L. Adrienne; Morris, Andrew P.; Lindgren, Cecilia M.; Mohlke, Karen L.; Dastani, Zari; Timpson, Nicholas; Yuan, Xin; Henneman, Peter; Kizer, Jorge R.; Lyytikainen, Leo-Pekka; Fuchsberger, Christian; Small, Kerrin; Coassin, Stefan; Lohman, Kurt; Pankow, James S.; Uh, Hae-Won; Wu, Ying; Bidulescu, Aurelian; Rasmussen-Torvik, Laura J.; Greenwood, Celia M. T.; Ladouceur, Martin; Grimsby, Jonna; Manning, Alisa K.; Kooner, Jaspal; Mooser, Vincent E.; Kapur, Karen A.; Chambers, John; Frants, Rune; Willemsvan-vanDijk, Ko; Willems, Sara M.; Winkler, Thomas; Psaty, Bruce M.; Tracy, Russell P.; Brody, Jennifer; Chen, Ida; Viikari, Jorma; Kähönen, Mika; Evans, David M.; St Pourcain, Beate; Sattar, Naveed; Wood, Andy; Carlson, Olga D.; Egan, Josephine M.; van Heemst, Diana; Kedenko, Lyudmyla; Nuotio, Marja-Liisa; Loo, Britt-Marie; Harris, Tamara; Garcia, Melissa; Kanaya, Alka; Haun, Margot; Klopp, Norman; Wichmann, H. Erich; Katsareli, Efi; Couper, David J.; Duncan, Bruce B.; Kloppenburg, Margreet; Borja, Judith B.; Wilson, James G.; Musani, Solomon; Guo, Xiuqing; Semple, Robert; Teslovich, Tanya M.; Allison, Matthew A.; Redline, Susan; Buxbaum, Sarah G.; Meulenbelt, Ingrid; Ballantyne, Christie M.; Dedoussis, George V.; Hu, Frank B.; Paulweber, Bernhard; Spector, Timothy D.; Jula, Antti; Raitakari, Olli; Florez, Jose C.; Smith, George Davey; Siscovick, David S.; Kronenberg, Florian; van Duijn, Cornelia; Waterworth, Dawn M.; Meigs, James B.; Dupuis, Josee; Richards, John Brent; Willenborg, Christina; Thompson, John R.; Erdmann, Jeanette; Goldstein, Benjamin A.; König, Inke R.; Cazier, Jean-Baptiste; Johansson, Åsa; Hall, Alistair S.; Lee, Jong-Young; Esko, Tõnu; Grundberg, Elin; Havulinna, Aki S.; Ho, Weang K.; Hopewell, Jemma C.; Eriksson, Niclas; Lundmark, Per; Lyytikäinen, Leo-Pekka; Rafelt, Suzanne; Tikkanen, Emmi; van Zuydam, Natalie; Voight, Benjamin F.; Ziegler, Andreas; Altshuler, David; Balmforth, Anthony J.; Braund, Peter S.; Burgdorf, Christof; Cox, David; Dimitriou, Maria; Do, Ron; El Mokhtari, NourEddine; Fontanillas, Pierre; Groop, Leif; Hager, Jörg; Hallmans, Göran; Han, Bok-Ghee; Hunt, Sarah E.; Kang, Hyun M.; Kessler, Thorsten; Knowles, Joshua W.; Kolovou, Genovefa; Langford, Cordelia; Lokki, Marja-Liisa; Lundmark, Anders; Meisinger, Christa; Melander, Olle; Maouche, Seraya; Nikus, Kjell; Peden, John F.; Rayner, N. William; Rasheed, Asif; Rosinger, Silke; Rubin, Diana; Rumpf, Moritz P.; Schäfer, Arne; Sivananthan, Mohan; Stewart, Alexandre F. R.; Tan, Sian-Tsung; Thorgeirsson, Gudmundur; van der Schoot, C. Ellen; Wagner, Peter J.; Wells, George A.; Wild, Philipp S.; Yang, Tsun-Po; Basart, Hanneke; Boerwinkle, Eric; Brambilla, Paolo; Cambien, Francois; Cupples, Adrienne L.; Dehghan, Abbas; Diemert, Patrick; Epstein, Stephen E.; Evans, Alun; Ferrario, Marco M.; Gauguier, Dominique; Goodall, Alison H.; Gudnason, Villi; Hazen, Stanley L.; Holm, Hilma; Iribarren, Carlos; Jang, Yangsoo; Kim, Hyo-Soo; Laaksonen, Reijo; Lee, Ji-Young; Ouwehand, Willem H.; Parish, Sarah; Park, Jeong E.; Rader, Daniel J.; Schadt, Eric; Shah, Svati H.; Stark, Klaus; Trégouët, David-Alexandre; Virtamo, Jarmo; Wallentin, Lars; Wareham, Nicholas; Zimmermann, Martina E.; Nieminen, Markku S.; Hengstenberg, Christian; Sandhu, Manjinder S.; Pastinen, Tomi; Hovingh, G. Kees; Zalloua, Pierre A.; Siegbahn, Agneta; Schreiber, Stefan; Ripatti, Samuli; Blankenberg, Stefan S.; O'Donnell, Christopher; Reilly, Muredach P.; Collins, Rory; Kathiresan, Sekar; Roberts, Robert; Schunkert, Heribert; Pattaro, Cristian; Köttgen, Anna; Garnaas, Maija; Böger, Carsten A.; Chen, Ming-Huei; Tin, Adrienne; Taliun, Daniel; Li, Man; Gao, Xiaoyi; Gorski, Mathias; Yang, Qiong; Hundertmark, Claudia; Foster, Meredith C.; O'Seaghdha, Conall M.; Glazer, Nicole; Smith, Albert V.; Struchalin, Maksim; Li, Guo; Johnson, Andrew D.; Gierman, Hinco J.; Feitosa, Mary; Hwang, Shih-Jen; Atkinson, Elizabeth J.; Cornelis, Marilyn C.; Chouraki, Vincent; Holliday, Elizabeth G.; Sorice, Rossella; Kutalik, Zoltan; Deshmukh, Harshal; Ulivi, Sheila; Chu, Audrey Y.; Murgia, Federico; Trompet, Stella; Imboden, Medea; Kollerits, Barbara; Pistis, Giorgio; Launer, Lenore J.; Aspelund, Thor; Eiriksdottir, Gudny; Mitchell, Braxton D.; Schmidt, Helena; Cavalieri, Margherita; Rao, Madhumathi; de Andrade, Mariza; Turner, Stephen T.; Ding, Jingzhong; Andrews, Jeanette S.; Freedman, Barry I.; Döring, Angela; Wichmann, H. -Erich; Kolcic, Ivana; Zemunik, Tatijana; Boban, Mladen; Minelli, Cosetta; Wheeler, Heather E.; Igl, Wilmar; Zaboli, Ghazal; Wild, Sarah H.; Wright, Alan F.; Ellinghaus, David; Nöthlings, Ute; Jacobs, Gunnar; Biffar, Reiner; Endlich, Karlhans; Ernst, Florian; Kroemer, Heyo K.; Nauck, Matthias; Stracke, Sylvia; Völzke, Henry; Uitterlinden, Andre G.; Aulchenko, Yurii S.; Polasek, Ozren; Hastie, Nick; Vitart, Veronique; Helmer, Catherine; Wang, Jie Jin; Ruggiero, Daniela; Bergmann, Sven; Nikopensius, Tiit; Province, Michael; Ketkar, Shamika; Colhoun, Helen; Doney, Alex; Robino, Antonietta; Giulianini, Franco; Krämer, Bernhard K.; Portas, Laura; Ford, Ian; Buckley, Brendan M.; Adam, Martin; Thun, Gian-Andri; Sala, Cinzia; Metzger, Marie; Mitchell, Paul; Ciullo, Marina; Kim, Stuart K.; Palmer, Colin; Gasparini, Paolo; Pirastu, Mario; Jukema, J. Wouter; Probst-Hensch, Nicole M.; Toniolo, Daniela; Coresh, Josef; Schmidt, Reinhold; Borecki, Ingrid; Kardia, Sharon L. R.; Curhan, Gary C.; Gyllensten, Ulf; Franke, Andre; Rettig, Rainer; Witteman, Jacqueline C. M.; Ridker, Paul; Parsa, Afshin; Goessling, Wolfram; Kao, W. H. Linda; de Boer, Ian H.; Glazer, Nicole L.; Peralta, Carmen A.; Zhao, Jing Hua; Akylbekova, Ermeg; Kramer, Holly; Arking, Dan E.; Franceschini, Nora; Egan, Josephine; Hernandez, Dena; Reilly, Muredach; Townsend, Raymond R.; Lumley, Thomas; Kestenbaum, Bryan; Haritunians, Talin; Waeber, Gerard; Mooser, Vincent; Waterworth, Dawn; Lu, Xiaoning; Leak, Tennille S.; Aasarød, Knut; Skorpen, Frank; Baumert, Jens; Devuyst, Olivier; Mychaleckyj, Josyf C.; Hastie, Nicholas D.; Curhan, Gary; Hallan, Stein; Navis, Gerjan; Shlipak, Michael G.; Bull, Shelley B.; Paterson, Andrew D.; Rotter, Jerome I.; Beckmann, Jacques S.; Dreisbach, Albert W.; Kao, W. H. L.; Styrkarsdottir, Unnur; Evangelou, Evangelos; Hsu, Yi-Hsiang; Duncan, Emma L.; Ntzani, Evangelia E.; Oei, Ling; Albagha, Omar M. E.; Kemp, John P.; Koller, Daniel L.; Minster, Ryan L.; Vandenput, Liesbeth; Willner, Dana; Xiao, Su-Mei; Yerges-Armstrong, Laura M.; Zheng, Hou-Feng; Alonso, Nerea; Eriksson, Joel; Kammerer, Candace M.; Kaptoge, Stephen K.; Leo, Paul J.; Wilson, Scott G.; Aalto, Ville; Alen, Markku; Aragaki, Aaron K.; Center, Jacqueline R.; Dailiana, Zoe; Duggan, David J.; Garcia-Giralt, Natàlia; Giroux, Sylvie; Hocking, Lynne J.; Husted, Lise Bjerre; Jameson, Karen A.; Khusainova, Rita; Kim, Ghi Su; Koromila, Theodora; Kruk, Marcin; Laaksonen, Marika; LaCroix, Andrea Z.; Lee, Seung Hun; Leung, Ping C.; Lewis, Joshua R.; Masi, Laura; Mencej-Bedrac, Simona; Nguyen, Tuan V.; Nogues, Xavier; Patel, Millan S.; Prezelj, Janez; Scollen, Serena; Siggeirsdottir, Kristin; Svensson, Olle; Trummer, Olivia; van Schoor, Natasja M.; Woo, Jean; Zhu, Kun; Balcells, Susana; Brandi, Maria Luisa; Cheng, Sulin; Christiansen, Claus; Cooper, Cyrus; Frost, Morten; Goltzman, David; González-Macías, Jesús; Karlsson, Magnus; Khusnutdinova, Elza; Koh, Jung-Min; Kollia, Panagoula; Langdahl, Bente Lomholt; Leslie, William D.; Lips, Paul; Ljunggren, Östen; Lorenc, Roman S.; Marc, Janja; Mellström, Dan; Obermayer-Pietsch, Barbara; Olmos, José M.; Pettersson-Kymmer, Ulrika; Reid, David M.; Riancho, José A.; Rousseau, François; Tang, Nelson L. S.; Urreizti, Roser; van Hul, Wim; Zarrabeitia, María T.; Castano-Betancourt, Martha; Herrera, Lizbeth; Ingvarsson, Thorvaldur; Johannsdottir, Hrefna; Kwan, Tony; Li, Rui; Luben, Robert; Medina-Gómez, Carolina; Palsson, Stefan Th; Reppe, Sjur; Sigurdsson, Gunnar; van Meurs, Joyce B. J.; Verlaan, Dominique; Williams, Frances M. K.; Zhou, Yanhua; Gautvik, Kaare M.; Raychaudhuri, Soumya; Cauley, Jane A.; Clark, Graeme R.; Cummings, Steven R.; Danoy, Patrick; Dennison, Elaine M.; Eastell, Richard; Eisman, John A.; Jackson, Rebecca D.; Jones, Graeme; Khaw, Kay-Tee; McCloskey, Eugene; Nandakumar, Kannabiran; Nicholson, Geoffrey C.; Peacock, Munro; Pols, Huibert A. P.; Prince, Richard L.; Reid, Ian R.; Robbins, John; Sambrook, Philip N.; Sham, Pak Chung; Tylavsky, Frances A.; Wareham, Nick J.; Econs, Michael J.; Kung, Annie Wai Chee; Reeve, Jonathan; Streeten, Elizabeth A.; Karasik, David; Richards, J. Brent; Brown, Matthew A.; Ralston, Stuart H.; Ioannidis, John P. A.; Kiel, Douglas P.; McKnight, Amy Jayne; Forsblom, Carol; Isakova, Tamara; McKay, Gareth J.; Williams, Winfred W.; Sadlier, Denise M.; Mäkinen, Ville-Petteri; Swan, Elizabeth J.; Palmer, Cameron; Boright, Andrew P.; Ahlqvist, Emma; Deshmukh, Harshal A.; Keller, Benjamin J.; Huang, Huateng; Ahola, Aila; Fagerholm, Emma; Gordin, Daniel; Harjutsalo, Valma; He, Bing; Heikkilä, Outi; Hietala, Kustaa; Kytö, Janne; Lahermo, Päivi; Lehto, Markku; Österholm, Anne-May; Parkkonen, Maija; Pitkäniemi, Janne; Rosengård-Bärlund, Milla; Saraheimo, Markku; Sarti, Cinzia; Söderlund, Jenny; Soro-Paavonen, Aino; Syreeni, Anna; Thorn, Lena M.; Tikkanen, Heikki; Tolonen, Nina; Tryggvason, Karl; Wadén, Johan; Gill, Geoffrey V.; Prior, Sarah; Guiducci, Candace; Mirel, Daniel B.; Taylor, Andrew; Hosseini, Mohsen; Parving, Hans-Henrik; Rossing, Peter; Tarnow, Lise; Ladenvall, Claes; Alhenc-Gelas, François; Lefebvre, Pierre; Rigalleau, Vincent; Roussel, Ronan; Tregouet, David-Alexandre; Maestroni, Anna; Maestroni, Silvia; Falhammar, Henrik; Gu, Tianwei; Möllsten, Anna; Cimponeriu, Dan; Mihai, Ioana; Mota, Maria; Mota, Eugen; Serafinceanu, Cristian; Stavarachi, Monica; Hanson, Robert L.; Nelson, Robert G.; Kretzler, Matthias; Colhoun, Helen M.; Panduru, Nicolae Mircea; Gu, Harvest F.; Brismar, Kerstin; Zerbini, Gianpaolo; Hadjadj, Samy; Marre, Michel; Lajer, Maria; Waggott, Daryl; Savage, David A.; Bain, Stephen C.; Martin, Finian; Godson, Catherine; Groop, Per-Henrik; Maxwell, Alexander P.; Sengupta, Sebanti; Peloso, Gina M.; Ganna, Andrea; Mora, Samia; Chang, Hsing-Yi; Demirkan, Ayşe; den Hertog, Heleen M.; Donnelly, Louise A.; Fraser, Ross M.; Freitag, Daniel F.; Gurdasani, Deepti; Kaakinen, Marika; Kettunen, Johannes; Li, Xiaohui; Montasser, May E.; Petersen, Ann-Kristin; Saxena, Richa; Service, Susan K.; Shah, Sonia; Sidore, Carlo; Surakka, Ida; van den Herik, Evita G.; Volcik, Kelly A.; Asiki, Gershim; Been, Latonya F.; Bolton, Jennifer L.; Bonnycastle, Lori L.; Burnett, Mary S.; Cesana, Giancarlo; Elliott, Paul; Eyjolfsson, Gudmundur Ingi; Goodarzi, Mark O.; Gravito, Martha L.; Hartikainen, Anna-Liisa; Hung, Yi-Jen; Jones, Michelle R.; Kaleebu, Pontiano; Kastelein, John J. P.; Kim, Eric; Komulainen, Pirjo; Lin, Shih-Yi; Müller, Gabrielle; Nieminen, Tuomo V. M.; Nsubuga, Rebecca N.; Olafsson, Isleifur; Palotie, Aarno; Papamarkou, Theodore; Pomilla, Cristina; Pouta, Anneli; Ruokonen, Aimo; Samani, Nilesh; Seeley, Janet; Silander, Kaisa; Tiret, Laurence; van Pelt, L. Joost; Wainwright, Nicholas; Wijmenga, Cisca; Willemsen, Gonneke; Young, Elizabeth H.; Bennett, Franklyn; Boomsma, Dorret I.; Bovet, Pascal; Chen, Yii-Der Ida; Feranil, Alan B.; Freimer, Nelson B.; Hingorani, Aroon; Hsiung, Chao Agnes; Järvelin, Marjo-Riitta; Kesäniemi, Antero; Koudstaal, Peter J.; Krauss, Ronald M.; Kyvik, Kirsten O.; Martin, Nicholas G.; Meneton, Pierre; Moilanen, Leena; Price, Jackie F.; Sanghera, Dharambir K.; Sheu, Wayne H.-H.; Whitfield, John B.; Wolffenbuttel, Bruce H. R.; Ordovas, Jose M.; Rich, Stephen S.; Abecasis, Gonçalo R.; Abecasis, Gonçalo; Caulfield, Mark; Chasman, Dan; Ehret, Georg; Johnson, Andrew; Johnson, Louise; Larson, Martin; Levy, Daniel; Munroe, Patricia; Newton-Cheh, Christopher; O'Reilly, Paul; Palmas, Walter; Psaty, Bruce; Rice, Kenneth; Smith, Albert; Snider, Harold; Tobin, Martin; Verwoert, Germaine; Rice, Kenneth M.; Tobin, Martin D.; Verwoert, Germaine C.; Pihur, Vasyl; O'Reilly, Paul F.; Launer, Lenore; Aulchenko, Yurii; Heath, Simon; Sõber, Siim; Arora, Pankaj; Zhang, Feng; Lucas, Gavin; Milaneschi, Yuri; Parker, Alex N.; Fava, Cristiano; Fox, Ervin R.; Go, Min Jin; Kao, Wen Hong Linda; Sjögren, Marketa; Vinay, D. G.; Alexander, Myriam; Tabara, Yasuharu; Shaw-Hawkins, Sue; Whincup, Peter H.; Shi, Gang; Tayo, Bamidele; Seielstad, Mark; Sim, Xueling; Nguyen, Khanh-Dung Hoang; Matullo, Giuseppe; Gaunt, Tom R.; Onland-Moret, N. Charlotte; Cooper, Matthew N.; Platou, Carl G. P.; Org, Elin; Hardy, Rebecca; Dahgam, Santosh; Palmen, Jutta; Kuznetsova, Tatiana; Uiterwaal, Cuno S. P. M.; Adeyemo, Adebowale; Ludwig, Barbara; Tomaszewski, Maciej; Tzoulaki, Ioanna; Palmer, Nicholette D.; Chang, Yen-Pei C.; Steinle, Nanette I.; Grobbee, Diederick E.; Kardia, Sharon L.; Morrison, Alanna C.; Najjar, Samer; Hadley, David; Connell, John M.; Day, Ian N. M.; Lawlor, Debbie A.; Beilby, John P.; Lawrence, Robert W.; Ongen, Halit; Li, Yali; Young, J. H.; Bis, Joshua C.; Bolton, Judith A. Hoffman; Chaturvedi, Nish; Islam, Muhammad; Jafar, Tazeen H.; Kulkarni, Smita R.; Grässler, Jürgen; Howard, Philip; Guarrera, Simonetta; Ricceri, Fulvio; Emilsson, Valur; Plump, Andrew; Weder, Alan B.; Sun, Yan V.; Scott, Laura J.; Peltonen, Leena; Vartiainen, Erkki; Brand, Stefan-Martin; Wang, Thomas J.; Burton, Paul R.; Artigas, Maria Soler; Dong, Yanbin; Wang, Xiaoling; Zhu, Haidong; Lohman, Kurt K.; Rudock, Megan E.; Heckbert, Susan R.; Smith, Nicholas L.; Wiggins, Kerri L.; Doumatey, Ayo; Shriner, Daniel; Veldre, Gudrun; Viigimaa, Margus; Kinra, Sanjay; Prabhakaran, Dorairajan; Tripathy, Vikal; Langefeld, Carl D.; Rosengren, Annika; Thelle, Dag S.; Corsi, Anna Maria; Singleton, Andrew; Hilton, Gina; Salako, Tunde; Iwai, Naoharu; Kita, Yoshikuni; Ogihara, Toshio; Ohkubo, Takayoshi; Okamura, Tomonori; Ueshima, Hirotsugu; Umemura, Satoshi; Eyheramendy, Susana; Meitinger, Thomas; Cho, Yoon Shin; Kim, Hyung-Lae; Scott, James; Sehmi, Joban S.; Hedblad, Bo; Nilsson, Peter; Stanèáková, Alena; Raffel, Leslie J.; Yao, Jie; O'Donnell, Chris; Schwartz, Stephen M.; Ikram, M. Arfan; Longstreth, W. T.; Mosley, Thomas H.; Seshadri, Sudha; Shrine, Nick R. G.; Wain, Louise V.; Morken, Mario A.; Laitinen, Jaana; Zitting, Paavo; Cooper, Jackie A.; van Gilst, Wiek H.; Janipalli, Charles S.; Mani, K. Radha; Yajnik, Chittaranjan S.; Mattace-Raso, Francesco U. S.; Lakatta, Edward G.; Orru, Marco; Scuteri, Angelo; Ala-Korpela, Mika; Kangas, Antti J.; Soininen, Pasi; Tukiainen, Taru; Würtz, Peter; Ong, Rick Twee-Hee; Galan, Pilar; Hercberg, Serge; Lathrop, Mark; Zelenika, Diana; Zhai, Guangju; Meschia, James F.; Sharma, Pankaj; Terzic, Janos; Kumar, M. J. Kranthi; Denniff, Matthew; Zukowska-Szczechowska, Ewa; Wagenknecht, Lynne E.; Fowkes, F. Gerald R.; Charchar, Fadi J.; Rotimi, Charles; Bots, Michiel L.; Brand, Eva; Talmud, Philippa J.; Nyberg, Fredrik; Laan, Maris; van der Schouw, Yvonne T.; Casas, Juan P.; Vineis, Paolo; Ganesh, Santhi K.; Wong, Tien Y.; Tai, E. Shyong; Rao, Dabeeru C.; Morris, Richard W.; Dominiczak, Anna F.; Marmot, Michael G.; Miki, Tetsuro; Chandak, Giriraj R.; Zhu, Xiaofeng; Gyllensten, Ulf B.; Elosua, Roberto; Soranzo, Nicole; Sijbrands, Eric J. G.; Uda, Manuela; Vasan, Ramachandran S.; Larson, Martin G.; Anderson, Carl A.; Gordon, Scott D.; Guo, Qun; Henders, Anjali K.; Lambert, Ann; Lee, Sang Hong; Kraft, Peter; Kennedy, Stephen H.; Macgregor, Stuart; Missmer, Stacey A.; Painter, Jodie N.; Roseman, Fenella; Treloar, Susan A.; Wallace, Leanne; Alizadeh, Behrooz Z.; de Boer, Rudolf A.; Boezen, H. Marike; van der Klauw, Melanie M.; Ormel, Johan; Postma, Dirkje S.; Rosmalen, Judith G. M.; Slaets, Joris P.; Lagou, Vasiliki; Welch, Ryan P.; Wheeler, Eleanor; Rehnberg, Emil; Lecoeur, Cecile; Johnson, Paul C. D.; Hottenga, Jouke-Jan; Salo, Perttu; Timpson, Nicholas J.; Bielak, Lawrence F.; Zhao, Wei; Horikoshi, Momoko; Navarro, Pau; Esko, Tönu; Chen, Han; Robertson, Neil; Rybin, Denis; Kang, Hyun Min; Song, Kijoung; An, Ping; Marullo, Letizia; Jansen, Hanneke; Edkins, Sarah; Varga, Tibor V.; Oksa, Heikki; Antonella, Mulas; Kong, Augustine; Herder, Christian; Antti, Jula; Miljkovic, Iva; Atalay, Mustafa; Kiess, Wieland; Smit, Johannes H.; Campbell, Susan; Fowkes, Gerard R.; Rathmann, Wolfgang; Maerz, Winfried; Province, Michael A.; Watanabe, Richard M.; Toenjes, Anke; Peyser, Patricia A.; Körner, Antje; Dupuis, Josée; Cucca, Francesco; Balkau, Beverley; Bouatia-Naji, Nabila; Ahmadi, Kourosh R.; Ainali, Chrysanthi; Bataille, Veronique; Bell, Jordana T.; Buil, Alfonso; Dermitzakis, Emmanouil T.; Dimas, Antigone S.; Durbin, Richard; Glass, Daniel; Hassanali, Neelam; Ingle, Catherine; Knowles, David; Krestyaninova, Maria; Lowe, Christopher E.; Meduri, Eshwar; di Meglio, Paola; Montgomery, Stephen B.; Nestle, Frank O.; Nica, Alexandra C.; Nisbet, James; O'Rahilly, Stephen; Parts, Leopold; Potter, Simon; Sekowska, Magdalena; Shin, So-Youn; Small, Kerrin S.; Surdulescu, Gabriela; Travers, Mary E.; Tsaprouni, Loukia; Tsoka, Sophia; Wilk, Alicja; Matise, Tara; Buyske, Steve; Higashio, Julia; Williams, Rasheeda; Nato, Andrew; Ambite, Jose Luis; Manolio, Teri; Hindorff, Lucia; Heiss, Gerardo; Taylor, Kira; Avery, Christy; Graff, Misa; Lin, Danyu; Quibrera, Miguel; Cochran, Barbara; Kao, Linda; Umans, Jason; Cole, Shelley; MacCluer, Jean; Person, Sharina; Pankow, James; Gross, Myron; Fornage, Myriam; Durda, Peter; Jenny, Nancy; Patsy, Bruce; Arnold, Alice; Buzkova, Petra; Crawford, Dana; Haines, Jonathan; Murdock, Deborah; Glenn, Kim; Brown-Gentry, Kristin; Thornton-Wells, Tricia; Dumitrescu, Logan; Jeff, Janina; Bush, William S.; Mitchell, Sabrina L.; Goodloe, Robert; Wilson, Sarah; Boston, Jonathan; Malinowski, Jennifer; Restrepo, Nicole; Oetjens, Matthew; Fowke, Jay; Zheng, Wei; Spencer, Kylee; Ritchie, Marylyn; Pendergrass, Sarah; Le Marchand, Loïc; Wilkens, Lynne; Park, Lani; Tiirikainen, Maarit; Kolonel, Laurence; Lim, Unhee; Cheng, Iona; Wang, Hansong; Shohet, Ralph; Haiman, Christopher; Stram, Daniel; Henderson, Brian; Monroe, Kristine; Schumacher, Fredrick; Anderson, Garnet; Carlson, Chris; Prentice, Ross; LaCroix, Andrea; Wu, Chunyuan; Carty, Cara; Gong, Jian; Rosse, Stephanie; Young, Alicia; Haessler, Jeff; Kocarnik, Jonathan; Lin, Yi; Jackson, Rebecca; Duggan, David; Kuller, Lew; He, Chunyan; Sulem, Patrick; Barbalic, Maja; Broer, Linda; Byrne, Enda M.; Gudbjartsson, Daniel F.; McArdle, Patick F.; Porcu, Eleonora; van Wingerden, Sophie; Zhuang, Wei V.; Lauc, Lovorka Barac; Broekmans, Frank J.; Burri, Andrea; Chanock, Stephen J.; Chen, Constance; Corre, Tanguy; Coviello, Andrea D.; D'Adamo, Pio; Davies, Gail; Deary, Ian J.; Dedoussis, George V. Z.; Deloukas, Panagiotis; Ebrahim, Shah; Fauser, Bart C. J. M.; Ferreli, Liana; Folsom, Aaron R.; Hall, Per; Hankinson, Susan E.; Hass, Merli; Heath, Andrew C.; Janssens, A. Cecile J. W.; Keyzer, Jules; Lahti, Jari; Lai, Sandra; Laisk, Triin; Laven, Joop S. E.; Liu, Jianjun; Lopez, Lorna M.; Louwers, Yvonne V.; Marongiu, Mara; Klaric, Irena Martinovic; Masciullo, Corrado; Medland, Sarah E.; Melzer, David; Newman, Anne B.; Paré, Guillaume; Peeters, Petra H. M.; Plump, Andrew S.; Pop, Victor J. M.; Räikkönen, Katri; Salumets, Andres; Smith, Jennifer A.; Stacey, Simon N.; Starr, John M.; Stathopoulou, Maria G.; Tenesa, Albert; Tryggvadottir, Laufey; Tsui, Kim; van Dam, Rob M.; van Gils, Carla H.; van Nierop, Peter; Vink, Jacqueline M.; Voorhuis, Marlies; Waeber, Gérard; Wallaschofski, Henri; Widen, Elisabeth; Wijnands-van Gent, Colette J. M.; Zgaga, Lina; Zygmunt, Marek; Arnold, Alice M.; Buring, Julie E.; Crisponi, Laura; Demerath, Ellen W.; Murray, Anna; Visser, Jenny A.; Lunetta, Kathryn L.; Elks, Cathy E.; Cousminer, Diana L.; Feenstra, Bjarke; Lin, Peng; McArdle, Patrick F.; van Wingerden, Sophie W.; Smith, Erin N.; Ulivi, Shelia; Warrington, Nicole M.; Alavere, Helen; Barroso, Ines; Berenson, Gerald S.; Blackburn, Hannah; Busonero, Fabio; Chen, Wei; Couper, David; Easton, Douglas F.; Eriksson, Johan; Foroud, Tatiana; Geller, Frank; Hernandez, Dena G.; Kilpeläinen, Tuomas O.; Li, Shengxu; Melbye, Mads; Murray, Jeffrey C.; Murray, Sarah S.; Ness, Andrew R.; Northstone, Kate; Pennell, Craig E.; Pharoah, Paul; Rafnar, Thorunn; Rice, John P.; Ring, Susan M.; Schork, Nicholas J.; Segrè, Ayellet V.; Sovio, Ulla; Srinivasan, Sathanur R.; Tammesoo, Mar-Liis; Tyrer, Jonathon; van Meurs, Joyve B. J.; Weedon, Michael N.; Young, Lauren; Zhuang, Wei Vivian; Bierut, Laura J.; Boyd, Heather A.

    2015-01-01

    Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide

  16. The Winding Road to Discovering the Link between Genetic Material and DNA

    Science.gov (United States)

    Cherif, Abour H.; Roze, Maris; Movahedzadeh, Farahnaz

    2015-01-01

    This is an account of the three-centuries long journey to the discovery of the link between DNA and the transformation principle of heredity beginning with the discovery of the cell in 1665 and leading up to the 1953 discovery of the genetic code and the structure of DNA. This account also illustrates the way science works and how scientists do…

  17. New genetic loci link adipose and insulin biology to body fat distribution

    NARCIS (Netherlands)

    D. Shungin (Dmitry); T.W. Winkler (Thomas W.); D.C. Croteau-Chonka (Damien); T. Ferreira (Teresa); A. Locke (Adam); R. Mägi (Reedik); R.J. Strawbridge (Rona); T.H. Pers (Tune); K. Fischer (Krista); A.E. Justice (Anne); T. Workalemahu (Tsegaselassie); J.M.W. Wu (Joseph M. W.); M.L. Buchkovich (Martin); N.L. Heard-Costa (Nancy); T.S. Roman (Tamara S.); A. Drong (Alexander); C. Song (Ci); S. Gustafsson (Stefan); F.R. Day (Felix); T. Esko (Tõnu); M. Fall (Magnus); Z. Kutalik (Zolta'n); J. Luan; J.C. Randall (Joshua); A. Scherag (Andre); S. Vedantam (Sailaja); A.R. Wood (Andrew); J. Chen (Jin); R.S.N. Fehrmann (Rudolf); J. Karjalainen (Juha); B. Kahali (Bratati); C.-T. Liu (Ching-Ti); E.M. Schmidt (Ellen); D. Absher (Devin); N. Amin (Najaf); M. Beekman (Marian); J.L. Bragg-Gresham (Jennifer L.); S. Buyske (Steven); A. Demirkan (Ayşe); G.B. Ehret (Georg); M.F. Feitosa (Mary Furlan); A. Goel (Anuj); A.U. Jackson (Anne); T. Johnson (Toby); M.E. Kleber (Marcus); K. Kristiansson (Kati); M. Mangino (Massimo); I.M. Leach (Irene Mateo); M.C. Medina-Gomez (Carolina); C. Palmer (Cameron); D. Pasko (Dorota); S. Pechlivanis (Sonali); M.J. Peters (Marjolein); I. Prokopenko (Inga); A. Stanca'kova' (Alena); Y.J. Sung (Yun Ju); T. Tanaka (Toshiko); A. Teumer (Alexander); J.V. van Vliet-Ostaptchouk (Jana); L. Yengo (Loic); W. Zhang (Weihua); E. Albrecht (Eva); J. Ärnlöv (Johan); G.M. Arscott (Gillian M.); S. Bandinelli (Stefania); A. Barrett (Angela); C. Bellis (Claire); A.J. Bennett (Amanda); C. Berne (Christian); M. Blüher (Matthias); S. Böhringer (Stefan); F. Bonnet (Fabrice); Y. Böttcher (Yvonne); M. Bruinenberg (M.); D.B. Carba (Delia B.); I.H. Caspersen (Ida H.); R. Clarke (Robert); E.W. Daw (E. Warwick); J. Deelen (Joris); E. Deelman (Ewa); G. Delgado; A.S.F. Doney (Alex); N. Eklund (Niina); M.R. Erdos (Michael); K. Estrada Gil (Karol); E. Eury (Elodie); N. Friedrich (Nele); M. Garcia (Melissa); V. Giedraitis (Vilmantas); B. Gigante (Bruna); A. Go (Attie); A. Golay (Alain); H. Grallert (Harald); T.B. Grammer (Tanja); J. Gräsler (Jürgen); J. Grewal (Jagvir); C.J. Groves (Christopher); T. Haller (Toomas); G. Hallmans (Göran); C.A. Hartman (Catharina); M. Hassinen (Maija); C. Hayward (Caroline); K. Heikkilä (Kauko); K.H. Herzig; Q. Helmer (Quinta); H.L. Hillege (Hans); O.L. Holmen (Oddgeir); S.C. Hunt (Steven); A. Isaacs (Aaron); T. Ittermann (Till); A.L. James (Alan); I. Johansson (Inger); T. Juliusdottir (Thorhildur); I.-P. Kalafati (Ioanna-Panagiota); L. Kinnunen (Leena); W. Koenig (Wolfgang); I.K. Kooner (Ishminder K.); W. Kratzer (Wolfgang); C. Lamina (Claudia); K. Leander (Karin); N.R. Lee (Nanette R.); P. Lichtner (Peter); L. Lind (Lars); J. Lindström (Jaana); S. Lobbens (Stéphane); M. Lorentzon (Mattias); F. MacH (François); P.K. Magnusson (Patrik); A. Mahajan (Anubha); W.L. McArdle (Wendy); C. Menni (Cristina); S. Merger (Sigrun); E. Mihailov (Evelin); L. Milani (Lili); R. Mills (Rebecca); A. Moayyeri (Alireza); K.L. Monda (Keri); S.P. Mooijaart (Simon); T.W. Mühleisen (Thomas); A. Mulas (Antonella); G. Müller (Gabriele); M. Müller-Nurasyid (Martina); R. Nagaraja (Ramaiah); M.A. Nalls (Michael); N. Narisu (Narisu); N. Glorioso (Nicola); I.M. Nolte (Ilja M.); M. Olden (Matthias); N.W. Rayner (Nigel William); F. Renström (Frida); J.S. Ried (Janina); N.R. Robertson (Neil R.); L.M. Rose (Lynda); S. Sanna (Serena); H. Scharnagl (Hubert); S. Scholtens (Salome); B. Sennblad (Bengt); T. Seufferlein (Thomas); C.M. Sitlani (Colleen); G.D. Smith; K. Stirrups (Kathy); H.M. Stringham (Heather); J. Sundstrom (Johan); M. Swertz (Morris); A.J. Swift (Amy); A.C. Syvanen; B. Tayo (Bamidele); B. Thorand (Barbara); G. Thorleifsson (Gudmar); A. Tomaschitz (Andreas); C. Troffa (Chiara); F.V.A. van Oort (Floor); N. Verweij (Niek); J.M. Vonk (Judith); L. Waite (Lindsay); R. Wennauer (Roman); T. Wilsgaard (Tom); M.K. Wojczynski (Mary ); A. Wong (Andrew); Q. Zhang (Qunyuan); J.H. Zhao (Jing Hua); E.P. Brennan (Eoin P.); M. Choi (Murim); P. Eriksson (Per); L. Folkersen (Lasse); A. Franco-Cereceda (Anders); A.G. Gharavi (Ali G.); A.K. Hedman (Asa); M.-F. Hivert (Marie-France); J. Huang (Jinyan); S. Kanoni (Stavroula); F. Karpe (Fredrik); S. Keildson (Sarah); K. Kiryluk (Krzysztof); L. Liang (Liming); R.P. Lifton (Richard); B. Ma (Baoshan); A.J. McKnight (Amy J.); R. McPherson (Ruth); A. Metspalu (Andres); J.L. Min (Josine L.); M.F. Moffatt (Miriam); G.W. Montgomery (Grant); J. Murabito (Joanne); G. Nicholson (Ggeorge); A.S. Dimas (Antigone); C. Olsson (Christian); J.R.B. Perry (John); E. Reinmaa (Eva); R.M. Salem (Rany); N. Sandholm (Niina); E.E. Schadt (Eric); R.A. Scott (Robert); L. Stolk (Lisette); E.E. Vallejo (Edgar E.); H.J. Westra (Harm-Jan); K.T. Zondervan (Krina); P. Amouyel (Philippe); D. Arveiler (Dominique); S.J.L. Bakker (Stephan); J.P. Beilby (John); R.N. Bergman (Richard); J. Blangero (John); M.J. Brown (Morris); M. Burnier (Michel); H. Campbell (Harry); A. Chakravarti (Aravinda); P.S. Chines (Peter); S. Claudi-Boehm (Simone); F.S. Collins (Francis); D.C. Crawford (Dana); J. Danesh (John); U. de Faire (Ulf); E.J.C. de Geus (Eco); M. Dörr (Marcus); R. Erbel (Raimund); K. Hagen (Knut); M. Farrall (Martin); E. Ferrannini (Ele); J. Ferrieres (Jean); N.G. Forouhi (Nita); T. Forrester (Terrence); O.H. Franco (Oscar); R.T. Gansevoort (Ron); C. Gieger (Christian); V. Gudnason (Vilmundur); C.A. Haiman (Christopher); T.B. Harris (Tamara); A.T. Hattersley (Andrew); M. Heliovaara (Markku); A.A. Hicks (Andrew); A. Hingorani (Aroon); W. Hoffmann (Wolfgang); A. Hofman (Albert); G. Homuth (Georg); S.E. Humphries (Steve); E. Hypponen (Elina); T. Illig (Thomas); M.-R. Jarvelin (Marjo-Riitta); B. Johansen (Berit); P. Jousilahti (Pekka); A. Jula (Antti); J. Kaprio (Jaakko); F. Kee (F.); S. Keinanen-Kiukaanniemi (Sirkka); J.S. Kooner (Jaspal S.); C. Kooperberg (Charles); P. Kovacs (Peter); A. Kraja (Aldi); M. Kumari (Meena); K. Kuulasmaa (Kari); J. Kuusisto (Johanna); T.A. Lakka (Timo); C. Langenberg (Claudia); L. Le Marchand (Loic); T. Lehtimäki (Terho); V. Lyssenko (Valeriya); S. Männistö (Satu); A. Marette (Andre'); T.C. Matise (Tara C.); C.A. McKenzie (Colin A.); B. McKnight (Barbara); A.W. Musk (Arthur); S. Möhlenkamp (Stefan); A.D. Morris (Andrew); M. Nelis (Mari); C. Ohlsson (Claes); A.J. Oldehinkel (Albertine); K.K. Ong (Ken K.); C. Palmer (Cameron); B.W.J.H. Penninx (Brenda); A. Peters (Annette); P.P. Pramstaller (Peter Paul); O. Raitakari (Olli); T. Rankinen (Tuomo); D.C. Rao (Dabeeru C.); T.K. Rice (Treva K.); P.M. Ridker (Paul); M.D. Ritchie (Marylyn D.); I. Rudan (Igor); V. Salomaa (Veikko); N.J. Samani (Nilesh); J. Saramies (Jouko); M.A. Sarzynski (Mark A.); P.E.H. Schwarz (Peter E. H.); A.R. Shuldiner (Alan); J.A. Staessen (Jan); V. Steinthorsdottir (Valgerdur); R.P. Stolk (Ronald); K. Strauch (Konstantin); A. Tönjes (Anke); A. Tremblay (Angelo); E. Tremoli (Elena); M.-C. Vohl (Marie-Claude); U. Völker (Uwe); P. Vollenweider (Peter); J.F. Wilson (James F); J.C.M. Witteman (Jacqueline); L.S. Adair (Linda); M. Bochud (Murielle); B.O. Boehm (Bernhard); S.R. Bornstein (Stefan R.); C. Bouchard (Claude); S. Cauchi (Ste'phane); M. Caulfield (Mark); J.C. Chambers (John C.); D.I. Chasman (Daniel); R.S. Cooper (Richard S.); G.V. Dedoussis (George); L. Ferrucci (Luigi); P. Froguel (Philippe); H.J. Grabe (Hans Jörgen); A. Hamsten (Anders); J. Hui (Jennie); K. Hveem (Kristian); K.-H. Jöckel (Karl-Heinz); M. Kivimaki (Mika); D. Kuh (Diana); M. Laakso (Markku); Y. Liu (YongMei); W. März (Winfried); P. Munroe (Patricia); I. Njølstad (Inger); B.A. Oostra (Ben); C.N.A. Palmer (Colin); N.L. Pedersen (Nancy L.); M. Perola (Markus); L. Perusse (Louis); U. Peters (Ulrike); C. Power (Christopher); T. Quertermous (Thomas); R. Rauramaa (Rainer); F. Rivadeneira Ramirez (Fernando); T. Saaristo (Timo); D. Saleheen; J. Sinisalo (Juha); P.E. Slagboom (Eline); H. Snieder (Harold); T.D. Spector (Timothy); U. Thorsteinsdottir (Unnur); M. Stumvoll (Michael); J. Tuomilehto (Jaakko); A.G. Uitterlinden (André); M. Uusitupa (Matti); P. van der Harst (Pim); G. Veronesi (Giovanni); M. Walker (Mark); N.J. Wareham (Nick); H. Watkins (Hugh); H.E. Wichmann (Heinz Erich); G.R. Abecasis (Gonçalo); T.L. Assimes (Themistocles); S.I. Berndt (Sonja); M. Boehnke (Michael); I.B. Borecki (Ingrid); P. Deloukas (Panagiotis); L. Franke (Lude); T.M. Frayling (Timothy); L. Groop (Leif); D. Hunter (David); R.C. Kaplan (Robert); J.R. O´Connell; L. Qi (Lu); D. Schlessinger (David); D.P. Strachan (David); J-A. Zwart (John-Anker); C.M. van Duijn (Cornelia); C.J. Willer (Cristen); P.M. Visscher (Peter); J. Yang (Joanna); J.N. Hirschhorn (Joel N.); M.C. Zillikens (Carola); M.I. McCarthy (Mark); E.K. Speliotes (Elizabeth); K.E. North (Kari); C.S. Fox (Caroline S.); I. Barroso (Inês); P.W. Franks (Paul); D. Anderson (Denise); E. Ingelsson (Erik); I.M. Heid (Iris); R.J.F. Loos (Ruth); L.A. Cupples (Adrienne); A.P. Morris (Andrew); C.M. Lindgren (Cecilia); K.L. Mohlke (Karen)

    2015-01-01

    textabstractBody fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct

  18. Chewed out: an experimental link between food material properties and repetitive loading of the masticatory apparatus in mammals

    Directory of Open Access Journals (Sweden)

    Matthew J. Ravosa

    2015-11-01

    Full Text Available Using a model organism (rabbits that resembles a number of mammalian herbivores in key aspects of its chewing behaviors, we examined how variation in dietary mechanical properties affects food breakdown during mastication. Such data have implications for understanding phenotypic variation in the mammalian feeding apparatus, particularly with respect to linking jaw form to diet-induced repetitive loading. Results indicate that chewing frequency (chews/s is independent of food properties, whereas chewing investment (chews/g and chewing duration(s, which are proportional to repetitive loading of the jaws, are positively related to food stiffness and toughness. In comparisons of displacement-limited and stress-limited fragmentation indices, which respectively characterize the intraoral breakdown of tough and stiff foods, increases in chewing investment and duration are linked solely to stiffness. This suggests that stiffer foods engender higher peak loads and increased cyclical loading. Our findings challenge conventional wisdom by demonstrating that toughness does not, by itself, underlie increases in cyclical loading and loading duration. Instead, tough foods may be associated with such jaw-loading patterns because they must be processed in greater volumes owing to their lower nutritive quality and for longer periods of time to increase oral exposure to salivary chemicals.

  19. X-linked ichthyosis without STS deficiency: Clinical, genetical, and molecular studies

    Energy Technology Data Exchange (ETDEWEB)

    Robledo, R.; Melis, P.; Schillinger, E.; Siniscalco, M. [Istituto di Genetica Molecolare del, Trieste (Italy)] [and others

    1995-11-06

    We report on a Sardinian pedigree with congenital ichthyosis associated with normal levels of steroid sulfatase and a normal molecular pattern, as detectable with a cDNA probe for the steroid sulfatase (STS) gene. Though the pattern of transmission of the disease is consistent with X-linked recessive inheritance, this form of ichthyosis was found to segregate independently of genetic polymorphisms detected by probes of the region Xp22.3, where the STS locus has been mapped. The search for close genetic linkages with other polymorphic markers scattered along the entire X chromosome has so far been fruitless. For the time being, the main conclusion derived from these data is that STS deficiency is not a sine qua non for X-linked ichthyosis which may also result from a mutational event at an X-chromosomal site genetically unlinked to the STS locus. 16 refs., 4 figs.

  20. Application of the distributed genetic algorithm for loading pattern optimization problems

    International Nuclear Information System (INIS)

    Hashimoto, Hiroshi; Yamamoto, Akio

    2000-01-01

    The distributed genetic algorithm (DGA) is applied for loading pattern optimization problems of the pressurized water reactors (PWR). Due to stiff nature of the loading pattern optimizations (e.g. multi-modality and non-linearity), stochastic methods like the simulated annealing or the genetic algorithm (GA) are widely applied for these problems. A basic concept of DGA is based on that of GA. However, DGA equally distributes candidates of solutions (i.e. loading patterns) to several independent 'islands' and evolves them in each island. Migrations of some candidates are performed among islands with a certain period. Since candidates of solutions independently evolve in each island with accepting different genes of migrants from other islands, premature convergence in the traditional GA can be prevented. Because many candidate loading patterns should be evaluated in one generation of GA or DGA, the parallelization in these calculations works efficiently. Parallel efficiency was measured using our optimization code and good load balance was attained even in a heterogeneous cluster environment due to dynamic distribution of the calculation load. The optimization code is based on the client/server architecture with the TCP/IP native socket and a client (optimization module) and calculation server modules communicate the objects of loading patterns each other. Throughout the sensitivity study on optimization parameters of DGA, a suitable set of the parameters for a test problem was identified. Finally, optimization capability of DGA and the traditional GA was compared in the test problem and DGA provided better optimization results than the traditional GA. (author)

  1. Simultaneous optimization of the cavity heat load and trip rates in linacs using a genetic algorithm

    Directory of Open Access Journals (Sweden)

    Balša Terzić

    2014-10-01

    Full Text Available In this paper, a genetic algorithm-based optimization is used to simultaneously minimize two competing objectives guiding the operation of the Jefferson Lab’s Continuous Electron Beam Accelerator Facility linacs: cavity heat load and radio frequency cavity trip rates. The results represent a significant improvement to the standard linac energy management tool and thereby could lead to a more efficient Continuous Electron Beam Accelerator Facility configuration. This study also serves as a proof of principle of how a genetic algorithm can be used for optimizing other linac-based machines.

  2. Pay-load estimation of a 2DOF flexible link robot using a delta-operator technique

    DEFF Research Database (Denmark)

    Jensen, Morten Rostgaard; Poulsen, Niels Kjølstad; Ravn, Ole

    2001-01-01

    The paper presents a new method for online identification of pay-loads for a two-link flexible robot. The method benefits from the close correspondence between parameters of a discrete-time model represented by means of the Delta-Operator, and those of the underlying continuous-time model. Althou...

  3. Preimplantation genetic diagnosis of X-linked Charcot-Marie-Tooth disease by indirect linkage analysis.

    Science.gov (United States)

    Borgulová, Irena; Putzová, Martina; Soldatova, Inna; Stejskal, David

    2018-03-23

    To present methodical approach of preimplantation genetic diagnosis (PGD) as an option for an unaffected pregnancy in reproductive-age couples who have a genetic risk of the X-linked dominant peripheral neuropathy Charcot-Marie-Tooth type 1 disease. We performed PGD of X-linked Charcot-Marie-Tooth type 1 disease using haplotyping/indirect linkage analysis, when during analysis we reach to exclude embryos that carry a high-risk haplotype linked to the causal mutation p.Leu9Phe in the GJB1 gene. Within the PGD cycle, we examined 4 blastomeres biopsied from cleavage-stage embryos and recommended 3 embryos for transfer. Two embryos were implanted into the uterus; however, it resulted in a singleton pregnancy with a male descendant. Three years later, the couple returned again with spontaneous gravidity. A chorionic biopsy examination of this gravidity ascertained the female sex and a pericentric inversion of chromosome 5 in 70% of the cultivated foetal cells. Using indirect linkage analysis, PGD may help to identify genetic X-linked defects within embryos during screening, thereby circumventing the potential problems with abortion. Copyright © 2017 Elsevier España, S.L.U. All rights reserved.

  4. Consequences of population topology for studying gene flow using link-based landscape genetic methods.

    Science.gov (United States)

    van Strien, Maarten J

    2017-07-01

    Many landscape genetic studies aim to determine the effect of landscape on gene flow between populations. These studies frequently employ link-based methods that relate pairwise measures of historical gene flow to measures of the landscape and the geographical distance between populations. However, apart from landscape and distance, there is a third important factor that can influence historical gene flow, that is, population topology (i.e., the arrangement of populations throughout a landscape). As the population topology is determined in part by the landscape configuration, I argue that it should play a more prominent role in landscape genetics. Making use of existing literature and theoretical examples, I discuss how population topology can influence results in landscape genetic studies and how it can be taken into account to improve the accuracy of these results. In support of my arguments, I have performed a literature review of landscape genetic studies published during the first half of 2015 as well as several computer simulations of gene flow between populations. First, I argue why one should carefully consider which population pairs should be included in link-based analyses. Second, I discuss several ways in which the population topology can be incorporated in response and explanatory variables. Third, I outline why it is important to sample populations in such a way that a good representation of the population topology is obtained. Fourth, I discuss how statistical testing for link-based approaches could be influenced by the population topology. I conclude the article with six recommendations geared toward better incorporating population topology in link-based landscape genetic studies.

  5. Convergence of Human Genetics and Animal Studies: Gene Therapy for X-Linked Retinoschisis

    Science.gov (United States)

    Bush, Ronald A.; Wei, Lisa L.; Sieving, Paul A.

    2015-01-01

    Retinoschisis is an X-linked recessive genetic disease that leads to vision loss in males. X-linked retinoschisis (XLRS) typically affects young males; however, progressive vision loss continues throughout life. Although discovered in 1898 by Haas in two brothers, the underlying biology leading to blindness has become apparent only in the last 15 years with the advancement of human genetic analyses, generation of XLRS animal models, and the development of ocular monitoring methods such as the electroretinogram and optical coherence tomography. It is now recognized that retinoschisis results from cyst formations within the retinal layers that interrupt normal visual neurosignaling and compromise structural integrity. Mutations in the human retinoschisin gene have been correlated with disease severity of the human XLRS phenotype. Introduction of a normal human retinoschisin cDNA into retinoschisin knockout mice restores retinal structure and improves neural function, providing proof-of-concept that gene replacement therapy is a plausible treatment for XLRS. PMID:26101206

  6. Epidemiological, neurobiological, and genetic clues to the mechanisms linking cannabis use to risk for nonaffective psychosis.

    Science.gov (United States)

    van Winkel, Ruud; Kuepper, Rebecca

    2014-01-01

    Epidemiological studies have shown that the association between cannabis and psychosis is robust and consistent across different samples, with compelling evidence for a dose-response relationship. Because longitudinal work indicates that cannabis use precedes psychotic symptoms, it seems reasonable to assume a causal relationship. However, more work is needed to address the possibility of gene-environment correlation (for example, genetic risk for psychosis causing onset of cannabis use). Moreover, knowledge about underlying biological mechanisms linking cannabis use and psychosis is still relatively limited. In order to understand how cannabis use may lead to an increased risk for psychosis, in the present article we (a) review the epidemiological, neurobiological, and genetic evidence linking cannabinoids and psychosis, (b) assess the quality of the evidence, and finally (c) try to integrate the most robust findings into a neurodevelopmental model of cannabis-induced psychosis and identify the gaps in knowledge that are in need of further investigation.

  7. Genetic study of a new X-linked recessive immunodeficiency syndrome.

    OpenAIRE

    de Saint-Basile, G; Le Deist, F; Caniglia, M; Lebranchu, Y; Griscelli, C; Fischer, A

    1992-01-01

    Seven forms of X-linked (XL) immunodeficiency have been described (XL agammaglobulinemia, XL severe combined immunodeficiency [SCID], Wiskott-Aldrich syndrome, XL chronic granulomatous disease, XL hyper-IgM syndrome with low IgG and IgA, and XL lymphoproliferative syndrome), and properdine deficiency. Although there are (some) phenotypic variants, diagnosis is relatively simple on the basis of clinical, immunological, and genetic characteristics. We studied a family in which several males wer...

  8. Refined genetic mapping of X-linked Charcot-Marie-Tooth neuropathy

    Energy Technology Data Exchange (ETDEWEB)

    Fain, P.R.; Barker, D.F.; Chance, P.F. (Univ. of Utah, School of Medicine, Salt Lake City, UT (United States))

    1994-02-01

    Genetic linkage studies were conducted in four multigenerational families with X-linked Charcot-Marie-Tooth disease (CMTX), using 12 highly polymorphic short-tandem-repeat markers for the pericentromeric region of the X Chromosome. Pairwise linkage analysis with individual markers confirmed tight linkage of CMTX to the pericentromeric region in each family. Multipoint analyses strongly support the order DXS337-CMTX-DXS441-(DXS56, PGK1). 38 refs., 2 figs., 1 tab.

  9. Highly specific detection of genetic modification events using an enzyme-linked probe hybridization chip.

    Science.gov (United States)

    Zhang, M Z; Zhang, X F; Chen, X M; Chen, X; Wu, S; Xu, L L

    2015-08-10

    The enzyme-linked probe hybridization chip utilizes a method based on ligase-hybridizing probe chip technology, with the principle of using thio-primers for protection against enzyme digestion, and using lambda DNA exonuclease to cut multiple PCR products obtained from the sample being tested into single-strand chains for hybridization. The 5'-end amino-labeled probe was fixed onto the aldehyde chip, and hybridized with the single-stranded PCR product, followed by addition of a fluorescent-modified probe that was then enzymatically linked with the adjacent, substrate-bound probe in order to achieve highly specific, parallel, and high-throughput detection. Specificity and sensitivity testing demonstrated that enzyme-linked probe hybridization technology could be applied to the specific detection of eight genetic modification events at the same time, with a sensitivity reaching 0.1% and the achievement of accurate, efficient, and stable results.

  10. Genetic determination of human facial morphology: links between cleft-lips and normal variation.

    Science.gov (United States)

    Boehringer, Stefan; van der Lijn, Fedde; Liu, Fan; Günther, Manuel; Sinigerova, Stella; Nowak, Stefanie; Ludwig, Kerstin U; Herberz, Ruth; Klein, Stefan; Hofman, Albert; Uitterlinden, Andre G; Niessen, Wiro J; Breteler, Monique M B; van der Lugt, Aad; Würtz, Rolf P; Nöthen, Markus M; Horsthemke, Bernhard; Wieczorek, Dagmar; Mangold, Elisabeth; Kayser, Manfred

    2011-11-01

    Recent genome-wide association studies have identified single nucleotide polymorphisms (SNPs) associated with non-syndromic cleft lip with or without cleft palate (NSCL/P), and other previous studies showed distinctly differing facial distance measurements when comparing unaffected relatives of NSCL/P patients with normal controls. Here, we test the hypothesis that genetic loci involved in NSCL/P also influence normal variation in facial morphology. We tested 11 SNPs from 10 genomic regions previously showing replicated evidence of association with NSCL/P for association with normal variation of nose width and bizygomatic distance in two cohorts from Germany (N=529) and the Netherlands (N=2497). The two most significant associations found were between nose width and SNP rs1258763 near the GREM1 gene in the German cohort (P=6 × 10(-4)), and between bizygomatic distance and SNP rs987525 at 8q24.21 near the CCDC26 gene (P=0.017) in the Dutch sample. A genetic prediction model explained 2% of phenotype variation in nose width in the German and 0.5% of bizygomatic distance variation in the Dutch cohort. Although preliminary, our data provide a first link between genetic loci involved in a pathological facial trait such as NSCL/P and variation of normal facial morphology. Moreover, we present a first approach for understanding the genetic basis of human facial appearance, a highly intriguing trait with implications on clinical practice, clinical genetics, forensic intelligence, social interactions and personal identity.

  11. Type 2 Diabetes Mellitus and Cardiovascular Disease: Genetic and Epigenetic Links

    Directory of Open Access Journals (Sweden)

    Salvatore De Rosa

    2018-01-01

    Full Text Available Type 2 diabetes mellitus (DM is a common metabolic disorder predisposing to diabetic cardiomyopathy and atherosclerotic cardiovascular disease (CVD, which could lead to heart failure through a variety of mechanisms, including myocardial infarction and chronic pressure overload. Pathogenetic mechanisms, mainly linked to hyperglycemia and chronic sustained hyperinsulinemia, include changes in metabolic profiles, intracellular signaling pathways, energy production, redox status, increased susceptibility to ischemia, and extracellular matrix remodeling. The close relationship between type 2 DM and CVD has led to the common soil hypothesis, postulating that both conditions share common genetic and environmental factors influencing this association. However, although the common risk factors of both CVD and type 2 DM, such as obesity, insulin resistance, dyslipidemia, inflammation, and thrombophilia, can be identified in the majority of affected patients, less is known about how these factors influence both conditions, so that efforts are still needed for a more comprehensive understanding of this relationship. The genetic, epigenetic, and environmental backgrounds of both type 2 DM and CVD have been more recently studied and updated. However, the underlying pathogenetic mechanisms have seldom been investigated within the broader shared background, but rather studied in the specific context of type 2 DM or CVD, separately. As the precise pathophysiological links between type 2 DM and CVD are not entirely understood and many aspects still require elucidation, an integrated description of the genetic, epigenetic, and environmental influences involved in the concomitant development of both diseases is of paramount importance to shed new light on the interlinks between type 2 DM and CVD. This review addresses the current knowledge of overlapping genetic and epigenetic aspects in type 2 DM and CVD, including microRNAs and long non-coding RNAs, whose

  12. Applications of the Chaotic Quantum Genetic Algorithm with Support Vector Regression in Load Forecasting

    Directory of Open Access Journals (Sweden)

    Cheng-Wen Lee

    2017-11-01

    Full Text Available Accurate electricity forecasting is still the critical issue in many energy management fields. The applications of hybrid novel algorithms with support vector regression (SVR models to overcome the premature convergence problem and improve forecasting accuracy levels also deserve to be widely explored. This paper applies chaotic function and quantum computing concepts to address the embedded drawbacks including crossover and mutation operations of genetic algorithms. Then, this paper proposes a novel electricity load forecasting model by hybridizing chaotic function and quantum computing with GA in an SVR model (named SVRCQGA to achieve more satisfactory forecasting accuracy levels. Experimental examples demonstrate that the proposed SVRCQGA model is superior to other competitive models.

  13. Genetic load and transgenic mitigating genes in transgenic Brassica rapa (field mustard × Brassica napus (oilseed rape hybrid populations

    Directory of Open Access Journals (Sweden)

    Warwick Suzanne I

    2009-10-01

    Full Text Available Abstract Background One theoretical explanation for the relatively poor performance of Brassica rapa (weed × Brassica napus (crop transgenic hybrids suggests that hybridization imparts a negative genetic load. Consequently, in hybrids genetic load could overshadow any benefits of fitness enhancing transgenes and become the limiting factor in transgenic hybrid persistence. Two types of genetic load were analyzed in this study: random/linkage-derived genetic load, and directly incorporated genetic load using a transgenic mitigation (TM strategy. In order to measure the effects of random genetic load, hybrid productivity (seed yield and biomass was correlated with crop- and weed-specific AFLP genomic markers. This portion of the study was designed to answer whether or not weed × transgenic crop hybrids possessing more crop genes were less competitive than hybrids containing fewer crop genes. The effects of directly incorporated genetic load (TM were analyzed through transgene persistence data. TM strategies are proposed to decrease transgene persistence if gene flow and subsequent transgene introgression to a wild host were to occur. Results In the absence of interspecific competition, transgenic weed × crop hybrids benefited from having more crop-specific alleles. There was a positive correlation between performance and number of B. napus crop-specific AFLP markers [seed yield vs. marker number (r = 0.54, P = 0.0003 and vegetative dry biomass vs. marker number (r = 0.44, P = 0.005]. However under interspecific competition with wheat or more weed-like conditions (i.e. representing a situation where hybrid plants emerge as volunteer weeds in subsequent cropping systems, there was a positive correlation between the number of B. rapa weed-specific AFLP markers and seed yield (r = 0.70, P = 0.0001, although no such correlation was detected for vegetative biomass. When genetic load was directly incorporated into the hybrid genome, by inserting a

  14. Discovering link communities in complex networks by an integer programming model and a genetic algorithm.

    Directory of Open Access Journals (Sweden)

    Zhenping Li

    Full Text Available Identification of communities in complex networks is an important topic and issue in many fields such as sociology, biology, and computer science. Communities are often defined as groups of related nodes or links that correspond to functional subunits in the corresponding complex systems. While most conventional approaches have focused on discovering communities of nodes, some recent studies start partitioning links to find overlapping communities straightforwardly. In this paper, we propose a new quantity function for link community identification in complex networks. Based on this quantity function we formulate the link community partition problem into an integer programming model which allows us to partition a complex network into overlapping communities. We further propose a genetic algorithm for link community detection which can partition a network into overlapping communities without knowing the number of communities. We test our model and algorithm on both artificial networks and real-world networks. The results demonstrate that the model and algorithm are efficient in detecting overlapping community structure in complex networks.

  15. Discovering link communities in complex networks by an integer programming model and a genetic algorithm.

    Science.gov (United States)

    Li, Zhenping; Zhang, Xiang-Sun; Wang, Rui-Sheng; Liu, Hongwei; Zhang, Shihua

    2013-01-01

    Identification of communities in complex networks is an important topic and issue in many fields such as sociology, biology, and computer science. Communities are often defined as groups of related nodes or links that correspond to functional subunits in the corresponding complex systems. While most conventional approaches have focused on discovering communities of nodes, some recent studies start partitioning links to find overlapping communities straightforwardly. In this paper, we propose a new quantity function for link community identification in complex networks. Based on this quantity function we formulate the link community partition problem into an integer programming model which allows us to partition a complex network into overlapping communities. We further propose a genetic algorithm for link community detection which can partition a network into overlapping communities without knowing the number of communities. We test our model and algorithm on both artificial networks and real-world networks. The results demonstrate that the model and algorithm are efficient in detecting overlapping community structure in complex networks.

  16. Sex chromosome linked genetic variance and the evolution of sexual dimorphism of quantitative traits.

    Science.gov (United States)

    Husby, Arild; Schielzeth, Holger; Forstmeier, Wolfgang; Gustafsson, Lars; Qvarnström, Anna

    2013-03-01

    Theory predicts that sex chromsome linkage should reduce intersexual genetic correlations thereby allowing the evolution of sexual dimorphism. Empirical evidence for sex linkage has come largely from crosses and few studies have examined how sexual dimorphism and sex linkage are related within outbred populations. Here, we use data on an array of different traits measured on over 10,000 individuals from two pedigreed populations of birds (collared flycatcher and zebra finch) to estimate the amount of sex-linked genetic variance (h(2)z ). Of 17 traits examined, eight showed a nonzero h(2)Z estimate but only four were significantly different from zero (wing patch size and tarsus length in collared flycatchers, wing length and beak color in zebra finches). We further tested how sexual dimorphism and the mode of selection operating on the trait relate to the proportion of sex-linked genetic variance. Sexually selected traits did not show higher h(2)Z than morphological traits and there was only a weak positive relationship between h(2)Z and sexual dimorphism. However, given the relative scarcity of empirical studies, it is premature to make conclusions about the role of sex chromosome linkage in the evolution of sexual dimorphism. © 2012 The Author(s). Evolution© 2012 The Society for the Study of Evolution.

  17. Long-term load spatial forecasting by means of genetic algorithms; Algoritmo genetico para previsao espacial de carga

    Energy Technology Data Exchange (ETDEWEB)

    Arango, Hector Gustavo; Torres, Germano Lambert; Silva, Alexandre P. Alves da [Escola Federal de Engenharia de Itajuba, MG (Brazil)

    1996-07-01

    Future scenery definition is fundamental to planning activity on the whole, and specifically to electrical energy distribution system. The long term load forecast is classically accomplish in order to show how evolves in time the different variables of respective models. However, sceneries to decisions in electric distribution, needs information as regards of how the model electrical variables be spatially located. Thus, load spatial forecasting is an basic tool to distribution system planning. In this article, is proposed an expansion model of electrical market based in genetic algorithms. The construction of market evolution process is make by means of modified genetic algorithm, where the new loads localization is resolved by a fitness function, dependent of an relevant parameters set, such as distance, load value, load pattern, voltage, etc. The modified genetic algorithm refers to the fact every localization solution corresponds to a new load's point, so that during the process is generated multiples solutions based in selection and genetic manipulation to create the new population elements, or load's points. (author)

  18. Red meat consumption and risk of cardiovascular diseases-is increased iron load a possible link?

    Science.gov (United States)

    Quintana Pacheco, Daniel A; Sookthai, Disorn; Wittenbecher, Clemens; Graf, Mirja E; Schübel, Ruth; Johnson, Theron; Katzke, Verena; Jakszyn, Paula; Kaaks, Rudolf; Kühn, Tilman

    2018-01-01

    High iron load and red meat consumption could increase the risk of cardiovascular diseases (CVDs). As red meat is the main source of heme iron, which is in turn a major determinant of increased iron load, adverse cardiometabolic effects of meat consumption could be mediated by increased iron load. The object of the study was to assess whether associations between red meat consumption and CVD risk are mediated by iron load in a population-based human study. We evaluated relations between red meat consumption, iron load (plasma ferritin), and risk of CVD in the prospective EPIC-Heidelberg Study using a case-cohort sample including a random subcohort (n = 2738) and incident cases of myocardial infarction (MI, n = 555), stroke (n = 513), and CVD mortality (n = 381). Following a 4-step mediation analysis, associations between red meat consumption and iron load, red meat consumption and CVD risk, and iron load and CVD risk were assessed by multivariable regression models before finally testing to which degree associations between red meat consumption and CVD risk were attenuated by adjustment for iron status. Red meat consumption was significantly positively associated with ferritin concentrations and MI risk [HR per 50 g daily intake: 1.18 (95% CI: 1.05, 1.33)], but no significant associations with stroke risk and CVD mortality were observed. While direct associations between ferritin concentrations and MI risk as well as CVD mortality were significant in age- and sex-adjusted Cox regression models, these associations were substantially attenuated and no longer significant after multivariable adjustment for classical CVD risk factors. Strikingly, ferritin concentrations were positively associated with a majority of classical CVD risk factors (age, male sex, alcohol intake, obesity, inflammation, and lower education). Increased ferritin concentrations may be a marker of an overall unfavorable risk factor profile rather than a mediator of greater CVD risk due to meat

  19. Genetic Variation Linked to Lung Cancer Survival in White Smokers | Center for Cancer Research

    Science.gov (United States)

    CCR investigators have discovered evidence that links lung cancer survival with genetic variations (called single nucleotide polymorphisms) in the MBL2 gene, a key player in innate immunity. The variations in the gene, which codes for a protein called the mannose-binding lectin, occur in its promoter region, where the RNA polymerase molecule binds to start transcription, and in the first exon that is responsible for the correct structure of MBL. The findings appear in the September 19, 2007, issue of the Journal of the National Cancer Institute.

  20. Linking movement behavior and fine-scale genetic structure to model landscape connectivity for bobcats (Lynx rufus)

    Science.gov (United States)

    Dawn M. Reding; Samuel A. Cushman; Todd E. Gosselink; William R. Clark

    2013-01-01

    Spatial heterogeneity can constrain the movement of individuals and consequently genes across a landscape, influencing demographic and genetic processes. In this study, we linked information on landscape composition, movement behavior, and genetic differentiation to gain a mechanistic understanding of how spatial heterogeneity may influence movement and gene flow of...

  1. Is there a causal link between knee loading and knee osteoarthritis progression?

    DEFF Research Database (Denmark)

    Henriksen, Marius; Creaby, Mark W; Lund, Hans

    2014-01-01

    on causation. DATA SOURCES: We searched MEDLINE, Scopus, AMED, CINAHL and SportsDiscus for prospective cohort studies and randomised controlled trials (RCTs) from 1950 through October 2013. STUDY ELIGIBILITY CRITERIA: We selected cohort studies and RCTs in which estimates of knee joint loading during walking...

  2. Pay-load Estimation of a 2 DOF Flexible Link Robot

    DEFF Research Database (Denmark)

    Poulsen, Niels Kjølstad; Ravn, Ole

    2005-01-01

    . Although the applied principle might be general in nature, the pa-per is applied to the well-known problem of identifying a pay-load of a moving flexible robot. This problem is almost impossible to solve by measurements, so an estimation technique must be applied. The presented method benefits from...

  3. Linking the environmental loads to the fate of PPCPs in Beijing: Considering both the treated and untreated wastewater sources

    International Nuclear Information System (INIS)

    Wang, Bin; Dai, Guohua; Deng, Shubo; Huang, Jun; Wang, Yujue; Yu, Gang

    2015-01-01

    The environmental loads of pharmaceutical and personal care products (PPCPs) in Beijing were estimated from direct discharge of untreated wastewater and WWTP treated effluent. The annual environmental loads of 15 PPCP components ranged from 16.3 kg (propranolol) to 9.85 tons (caffeine). A fugacity model was developed to successfully estimate the PPCP pollution based on the estimated environmental load. The modeled results approximated the observed PPCP concentrations in Beijing. The untreated wastewater contributed significantly to PPCP pollution in Beijing, ranging from 46% (propranolol) to 99% (caffeine). The total environmental burden of target PPCPs ranged from 0.90 kg (propranolol) to 536 kg (caffeine). Water is the most important media for the fate of PPCPs. Monte Carlo-based concentration distributions of PPCPs are consistent with the observed results. The most important way to reduce the PPCP pollution is to both improve wastewater collection rate and adopt deep treatment technologies. - Highlights: • Annual environmental loads of PPCPs ranged from 16.3 kg to 9.85 tons in Beijing. • The environmental loads can be linked to PPCP pollution by fugacity model. • Untreated wastewater significantly contributed to PPCP pollution in Beijing. • The environmental burden of 15 PPCPs in Beijing ranged from 0.90 kg to 536 kg. • Uncertainty simulation successfully generated PPCP concentration distribution. - The environmental loads from both the treated and untreated wastewater sources contribute to PPCPs pollution in the surface water in Beijing, China

  4. Convergence of Human Genetics and Animal Studies: Gene Therapy for X-Linked Retinoschisis.

    Science.gov (United States)

    Bush, Ronald A; Wei, Lisa L; Sieving, Paul A

    2015-06-22

    Retinoschisis is an X-linked recessive genetic disease that leads to vision loss in males. X-linked retinoschisis (XLRS) typically affects young males; however, progressive vision loss continues throughout life. Although discovered in 1898 by Haas in two brothers, the underlying biology leading to blindness has become apparent only in the last 15 years with the advancement of human genetic analyses, generation of XLRS animal models, and the development of ocular monitoring methods such as the electroretinogram and optical coherence tomography. It is now recognized that retinoschisis results from cyst formations within the retinal layers that interrupt normal visual neurosignaling and compromise structural integrity. Mutations in the human retinoschisin gene have been correlated with disease severity of the human XLRS phenotype. Introduction of a normal human retinoschisin cDNA into retinoschisin knockout mice restores retinal structure and improves neural function, providing proof-of-concept that gene replacement therapy is a plausible treatment for XLRS. Copyright © 2015 Cold Spring Harbor Laboratory Press; all rights reserved.

  5. Adenosine Triphosphate-Triggered Release of Macromolecular and Nanoparticle Loads from Aptamer/DNA-Cross-Linked Microcapsules.

    Science.gov (United States)

    Liao, Wei-Ching; Lu, Chun-Hua; Hartmann, Raimo; Wang, Fuan; Sohn, Yang Sung; Parak, Wolfgang J; Willner, Itamar

    2015-09-22

    The synthesis of stimuli-responsive DNA microcapsules acting as carriers for different payloads, and being dissociated through the formation of aptamer-ligand complexes is described. Specifically, stimuli-responsive anti-adenosine triphosphate (ATP) aptamer-cross-linked DNA-stabilized microcapsules loaded with tetramethylrhodamine-modified dextran (TMR-D), CdSe/ZnS quantum dots (QDs), or microperoxidase-11 (MP-11) are presented. In the presence of ATP as trigger, the microcapsules are dissociated through the formation of aptamer-ATP complexes, resulting in the release of the respective loads. Selective unlocking of the capsules is demonstrated, and CTP, GTP, or TTP do not unlock the pores. The ATP-triggered release of MP-11 from the microcapsules enables the MP-11-catalyzed oxidation of Amplex UltraRed by H2O2 to the fluorescent product resorufin.

  6. Linking social and pathogen transmission networks using microbial genetics in giraffe (Giraffa camelopardalis).

    Science.gov (United States)

    VanderWaal, Kimberly L; Atwill, Edward R; Isbell, Lynne A; McCowan, Brenda

    2014-03-01

    Although network analysis has drawn considerable attention as a promising tool for disease ecology, empirical research has been hindered by limitations in detecting the occurrence of pathogen transmission (who transmitted to whom) within social networks. Using a novel approach, we utilize the genetics of a diverse microbe, Escherichia coli, to infer where direct or indirect transmission has occurred and use these data to construct transmission networks for a wild giraffe population (Giraffe camelopardalis). Individuals were considered to be a part of the same transmission chain and were interlinked in the transmission network if they shared genetic subtypes of E. coli. By using microbial genetics to quantify who transmits to whom independently from the behavioural data on who is in contact with whom, we were able to directly investigate how the structure of contact networks influences the structure of the transmission network. To distinguish between the effects of social and environmental contact on transmission dynamics, the transmission network was compared with two separate contact networks defined from the behavioural data: a social network based on association patterns, and a spatial network based on patterns of home-range overlap among individuals. We found that links in the transmission network were more likely to occur between individuals that were strongly linked in the social network. Furthermore, individuals that had more numerous connections or that occupied 'bottleneck' positions in the social network tended to occupy similar positions in the transmission network. No similar correlations were observed between the spatial and transmission networks. This indicates that an individual's social network position is predictive of transmission network position, which has implications for identifying individuals that function as super-spreaders or transmission bottlenecks in the population. These results emphasize the importance of association patterns in

  7. Linking genetic counseling content to short-term outcomes in individuals at elevated breast cancer risk.

    Science.gov (United States)

    Kelly, Kimberly M; Ellington, Lee; Schoenberg, Nancy; Agarwal, Parul; Jackson, Thomas; Dickinson, Stephanie; Abraham, Jame; Paskett, Electra D; Leventhal, Howard; Andrykowski, Michael

    2014-10-01

    Few studies have linked actual genetic counseling content to short-term outcomes. Using the Self-regulation Model, the impact of cognitive and affective content in genetic counseling on short-term outcomes was studied in individuals at elevated risk of familial breast-ovarian cancer. Surveys assessed dependent variables: distress, perceived risk, and 6 knowledge measures (Meaning of Positive Test; Meaning of Negative Test; Personal Behavior; Practitioner Knowledge; Mechanisms of Cancer Inheritance; Frequency of Inherited Cancer) measured at pre- and post-counseling. Proportion of participant cognitive and affective and counselor cognitive and affective content during sessions (using LIWC software) were predictors in regressions. Knowledge increased for 5 measures and decreased for Personal Behavior, Distress and Perceived Risk. Controlling for age and education, results were significant/marginally significant for three measures. More counselor content was associated with decreases in knowledge of Personal Behavior. More participant and less counselor affective content was associated with gains in Practitioner Knowledge. More counselor cognitive, and interaction of counselor cognitive and affective content, were associated with higher perceived risk. Genetic counselors dominate the content of counseling sessions. Therefore, their content is tied more closely to short term outcomes than participant content. A lack of patient communication in sessions may pose problems for understanding of complex concepts.

  8. From the genome to the phenome and back: linking genes with human brain function and structure using genetically informed neuroimaging

    DEFF Research Database (Denmark)

    Siebner, H R; Callicott, J H; Sommer, T

    2009-01-01

    In recent years, an array of brain mapping techniques has been successfully employed to link individual differences in circuit function or structure in the living human brain with individual variations in the human genome. Several proof-of-principle studies provided converging evidence that brain...... imaging can establish important links between genes and behaviour. The overarching goal is to use genetically informed brain imaging to pinpoint neurobiological mechanisms that contribute to behavioural intermediate phenotypes or disease states. This special issue on "Linking Genes to Brain Function...... in Health and Disease" provides an overview over how the "imaging genetics" approach is currently applied in the various fields of systems neuroscience to reveal the genetic underpinnings of complex behaviours and brain diseases. While the rapidly emerging field of imaging genetics holds great promise...

  9. Comparison of genetic algorithm and imperialist competitive algorithms in predicting bed load transport in clean pipe.

    Science.gov (United States)

    Ebtehaj, Isa; Bonakdari, Hossein

    2014-01-01

    The existence of sediments in wastewater greatly affects the performance of the sewer and wastewater transmission systems. Increased sedimentation in wastewater collection systems causes problems such as reduced transmission capacity and early combined sewer overflow. The article reviews the performance of the genetic algorithm (GA) and imperialist competitive algorithm (ICA) in minimizing the target function (mean square error of observed and predicted Froude number). To study the impact of bed load transport parameters, using four non-dimensional groups, six different models have been presented. Moreover, the roulette wheel selection method is used to select the parents. The ICA with root mean square error (RMSE) = 0.007, mean absolute percentage error (MAPE) = 3.5% show better results than GA (RMSE = 0.007, MAPE = 5.6%) for the selected model. All six models return better results than the GA. Also, the results of these two algorithms were compared with multi-layer perceptron and existing equations.

  10. Linking restless legs syndrome with Parkinson's disease: clinical, imaging and genetic evidence

    Directory of Open Access Journals (Sweden)

    Peeraully Tasneem

    2012-02-01

    Full Text Available Abstract Restless legs syndrome (RLS and Parkinson's disease (PD are both common neurological disorders. There has been much debate over whether an etiological link between these two diseases exists and whether they share a common pathophysiology. Evidence pointing towards a link includes response to dopaminergic agents in PD and RLS, suggestive of underlying dopamine dysfunction in both conditions. The extrastriatal dopaminergic system, in particular altered spinal dopaminergic modulation, may be variably involved in PD patients with RLS symptoms. In addition, there is now evidence that the nigrostriatal system, primarily involved in PD, is also affected in RLS. Furthermore, an association of RLS with the parkin mutation has been suggested. The prevalence of RLS has also been reported to be increased in other disorders of dopamine regulation. However, clinical association studies and functional imaging have produced mixed findings. Conflicting accounts of emergence of RLS and improvement in RLS symptoms after deep brain stimulation (DBS also contribute to the uncertainty surrounding the issue. Among the strongest arguments against a common pathophysiology is the role of iron in RLS and PD. While elevated iron levels in the substantia nigra contribute to oxidative stress in PD, RLS is a disorder of relative iron deficiency, with symptoms responding to replacement therapy. Recent ultrasonography studies have suggested that, despite overlapping clinical features, the mechanisms underlying idiopathic RLS and RLS associated with PD may differ. In this review, we provide a concise summary of the clinical, imaging and genetic evidence exploring the link between RLS and PD.

  11. Identification of genetic markers linked to anthracnose resistance in sorghum using association analysis.

    Science.gov (United States)

    Upadhyaya, Hari D; Wang, Yi-Hong; Sharma, Rajan; Sharma, Shivali

    2013-06-01

    Anthracnose in sorghum caused by Colletotrichum sublineolum is one of the most destructive diseases affecting sorghum production under warm and humid conditions. Markers and genes linked to resistance to the disease are important for plant breeding. Using 14,739 SNP markers, we have mapped eight loci linked to resistance in sorghum through association analysis of a sorghum mini-core collection consisting of 242 diverse accessions evaluated for anthracnose resistance for 2 years in the field. The mini-core was representative of the International Crops Research Institute for the Semi-Arid Tropics' world-wide sorghum landrace collection. Eight marker loci were associated with anthracnose resistance in both years. Except locus 8, disease resistance-related genes were found in all loci based on their physical distance from linked SNP markers. These include two NB-ARC class of R genes on chromosome 10 that were partially homologous to the rice blast resistance gene Pib, two hypersensitive response-related genes: autophagy-related protein 3 on chromosome 1 and 4 harpin-induced 1 (Hin1) homologs on chromosome 8, a RAV transcription factor that is also part of R gene pathway, an oxysterol-binding protein that functions in the non-specific host resistance, and homologs of menthone:neomenthol reductase (MNR) that catalyzes a menthone reduction to produce the antimicrobial neomenthol. These genes and markers may be developed into molecular tools for genetic improvement of anthracnose resistance in sorghum.

  12. Drought-adaptation potential in Fagus sylvatica: linking moisture availability with genetic diversity and dendrochronology.

    Directory of Open Access Journals (Sweden)

    Andrea R Pluess

    Full Text Available BACKGROUND: Microevolution is essential for species persistence especially under anticipated climate change scenarios. Species distribution projection models suggested that the dominant tree species of lowland forests in Switzerland, European beech (Fagus sylvatica L., might disappear from most areas due to expected longer dry periods. However, if genotypes at the moisture boundary of the species climatic envelope are adapted to lower moisture availability, they can serve as seed source for the continuation of beech forests under changing climates. METHODOLOGY/PRINCIPAL FINDINGS: With an AFLP genome scan approach, we studied neutral and potentially adaptive genetic variation in Fagus sylvatica in three regions containing a dry and a mesic site each (n(ind. = 241, n(markers = 517. We linked this dataset with dendrochronological growth measures and local moisture availabilities based on precipitation and soil characteristics. Genetic diversity decreased slightly at dry sites. Overall genetic differentiation was low (F(st = 0.028 and Bayesian cluster analysis grouped all populations together suggesting high (historical gene flow. The Bayesian outlier analyses indicated 13 markers with three markers differing between all dry and mesic sites and the others between the contrasting sites within individual regions. A total of 41 markers, including seven outlier loci, changed their frequency with local moisture availability. Tree height and median basal growth increments were reduced at dry sites, but marker presence/absence was not related to dendrochronological characteristics. CONCLUSION AND THEIR SIGNIFICANCE: The outlier alleles and the makers with changing frequencies in relation to moisture availability indicate microevolutionary processes occurring within short geographic distances. The general genetic similarity among sites suggests that 'preadaptive' genes can easily spread across the landscape. Yet, due to the long live span of

  13. Linking CDOM spectral absorption to dissolved organic carbon concentrations and loadings in boreal estuaries

    DEFF Research Database (Denmark)

    Asmala, Eero; Stedmon, Colin A.; Thomas, David N.

    2012-01-01

    samples were collected from three estuarine transects which were studied in three seasons, covering a salinity range between 0 and 6.8, and DOC concentrations from 1572 μmoll−1 in freshwater to 222μmoll−1 in coastal waters. CDOM absorption coefficient, aCDOM(375) values followed the trend in DOC......The quantity of chromophoric dissolved organic matter (CDOM) and dissolved organic carbon (DOC) in three Finnish estuaries (Karjaanjoki, Kyrönjoki and Kiiminkijoki) was investigated, with respect to predicting DOC concentrations and loadings from spectral CDOM absorption measurements. Altogether 87...

  14. New genetic loci link adipose and insulin biology to body fat distribution

    DEFF Research Database (Denmark)

    Shungin, Dmitry; Winkler, Thomas W; Croteau-Chonka, Damien C.

    2015-01-01

    Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome......-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P ... adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms....

  15. HLA-linked spinocerebellar ataxia: a clinical and genetic study of large Italian kindreds.

    Science.gov (United States)

    Spadaro, M; Giunti, P; Lulli, P; Frontali, M; Jodice, C; Cappellacci, S; Morellini, M; Persichetti, F; Trabace, S; Anastasi, R

    1992-04-01

    Five families with late onset autosomal dominant spinocerebellar ataxia, were studied. Linkage between the disease and HLA loci on the short arm of chromosome 6 was shown in the two largest pedigrees. Clinical study of 26 patients and neuropathological study in one are reported. The disease was characterized by cerebellar and pyramidal involvement variably associated with cranial nerve and peripheral nervous system disorders. A remarkable concordance of the main clinical features was observed in patients with similar disease duration. Comparison with previous reports of HLA-linked spinocerebellar ataxia kindreds showed differences in clinical phenotypes. Although these might be due to genetic variation, the hypothesis is suggested that the phenotype might appear more homogeneous if disease duration is taken into account.

  16. Application of carrier testing to genetic counseling for X-linked agammaglobulinemia

    Energy Technology Data Exchange (ETDEWEB)

    Allen, R.C.; Nachtman, R.G.; Belmont, J.W.; Rosenblatt, H.M.

    1994-01-01

    Bruton X-linked agammaglobulinemia (XLA) is a phenotypically recessive genetic disorder of B lymphocyte development. Female carriers of XLA, although asymptomatic, have a characteristic B cell lineage-specific skewing of the pattern of X inactivation. Skewing apparently results from defective growth and maturation of B cell precursors bearing a mutant active X chromosome. In this study, carrier status was tested in 58 women from 22 families referred with a history of agammaglobulinemia. Primary carrier analysis to examine patterns of X inactivation in CD19[sup +] peripheral blood cells (B lymphocytes) was conducted using quantitative PCR at the androgen-receptor locus. Obligate carriers of XLA demonstrated >95% skewing of X inactivation in peripheral blood CD19[sup +] cells but not in CD19[sup [minus

  17. Incest, gamete donation by siblings and the importance of the genetic link.

    Science.gov (United States)

    Pennings, G

    2002-01-01

    Recently, several requests have emerged in which women wished to be impregnated with donor eggs fertilized with spermatozoa of their brother. An important argument advanced against such applications is that it is a kind of incest. Four definitions of incest are reviewed in this article to evaluate the acceptability of these demands. The first three (sexual intercourse, reproduction with gametes of first-degree relatives and symbolic incest) do not apply to the cases. However, when the sister and her brother intend to raise the child as social mother and father, these requests should be considered as "intentional incest". If the brother only functions as an uncle, the request of the woman resembles the currently accepted practice of oocyte donation from sister to sister. In that case, the wish to receive gametes from a first-degree relative is motivated by the wish to establish as far as possible a genetic link with the child.

  18. Genetic analysis and clinical phenotype of two Indian families with X-linked choroideremia

    Directory of Open Access Journals (Sweden)

    Rajani Battu

    2016-01-01

    Full Text Available Purpose: This study aims to describe the phenotype and genotype of two Indian families affected with X-linked choroideremia (CHM. Materials and Methods: In these two families, the affected individuals and unaffected family members underwent a comprehensive ophthalmic examination including an optical coherence tomography (OCT and electroretinogram. Blood samples were collected from the families for genetic analysis. Next generation sequencing (NGS was done using a panel of 184 genes, which covered previously associated genes with retinal dystrophies. Sequencing data were analyzed for the CHM, RPGR, and RP2 genes that have been implicated in CHM and X-linked retinitis pigmentosa (XLRP, respectively. The identified variants were confirmed by Sanger sequencing in available individuals and unrelated controls. Results: In two unrelated male patients, NGS analysis revealed a previously reported 3'-splice site change c.820-1G>C in the CHM gene in the first family and hemizygous mutation c.653G>C (p.Ser218X in the second family. The asymptomatic family members were carriers for these mutations. Spectral domain-OCT showed loss of outer retina, preservation of the inner retina, and choroidal thinning in the affected males and retinal pigment epithelial changes in the asymptomatic carriers. The identified mutations were not present in 100 controls of Indian origin. There were no potential mutations found in XLRP-associated (RPGR and RP2 genes. Conclusion: This report describes the genotype and phenotype findings in patients with CHM from India. The identified genetic mutation leads to lack of Rab escort protein-1 (REP-1 or affects the production of a REP-1 protein that is likely to cause retinal abnormalities in patients.

  19. Occlusal loading and cross-linking effects on dentin collagen degradation in physiological conditions.

    Science.gov (United States)

    Turco, Gianluca; Frassetto, Andrea; Fontanive, Luca; Mazzoni, Annalisa; Cadenaro, Milena; Di Lenarda, Roberto; Tay, Franklin R; Pashley, David H; Breschi, Lorenzo

    2016-02-01

    This study evaluated the ability of 1-ethyl-3-(3-dimethylaminopropyl)-carbodiimide hydrochloride (EDC) to improve the stability of demineralized dentin collagen matrices when subjected to mechanical cycling by means of Chewing Simulation (CS). Demineralized dentin disks were randomly assigned to four groups (N=4): (1) immersion in artificial saliva at 37°C for 30 days; (2) pre-treatment with 0.5 M EDC for 60 s, then stored as in Group 1; (3) CS challenge (50 N occlusal load, 30 s occlusal time plus 30 s with no load, for 30 days); (4) pre-treatment with 0.5 M EDC as in Group 2 and CS challenge as in Group 3. Collagen degradation was evaluated by sampling storage media for ICTP and CTX telopeptides. EDC treated specimens showed no significant telopeptides release, irrespective of the aging method. Cyclic stressing of EDC-untreated specimens caused significantly higher ICTP release at day 1, compared to static storage, while by days 3 and 4, the ICTP release in the cyclic group fell significantly below the static group, and then remained undetectable from 5 to 30 days. CTX release in the cyclic groups, on EDC-untreated control specimens was always lower than in the static group in days 1-4, and then fell to undetectable for 30 days. This study showed that chewing stresses applied to control untreated demineralized dentin increased degradation of collagen in terms of CTX release, while collagen crosslinking agents may prevent dentin collagen degradation, irrespective of simulated occlusal function. Copyright © 2015 Academy of Dental Materials. Published by Elsevier Ltd. All rights reserved.

  20. Assessment of genetic diversity in Indian rice germplasm (Oryza sativa L.): use of random versus trait-linked microsatellite markers.

    Science.gov (United States)

    Yadav, Sheel; Singh, Ashutosh; Singh, M R; Goel, Nitika; Vinod, K K; Mohapatra, T; Singh, A K

    2013-12-01

    Assessment of genetic diversity in a crop germplasm is a vital part of plant breeding. DNA markers such as microsatellite or simple sequence repeat markers have been widely used to estimate the genetic diversity in rice. The present study was carried out to decipher the pattern of genetic diversity in terms of both phenotypic and genotypic variability, and to assess the efficiency of random vis-á-vis QTL linked/gene based simple sequence repeat markers in diversity estimation. A set of 88 rice accessions that included landraces, farmer's varieties and popular Basmati lines were evaluated for agronomic traits and molecular diversity. The random set of SSR markers included 50 diversity panel markers developed under IRRI's Generation Challenge Programme (GCP) and the trait-linked/gene based markers comprised of 50 SSR markers reportedly linked to yield and related components. For agronomic traits, significant variability was observed, ranging between the maximum for grains/panicle and the minimum for panicle length. The molecular diversity based grouping indicated that varieties from a common centre were genetically similar, with few exceptions. The trait-linked markers gave an average genetic dissimilarity of 0.45 as against that of 0.37 by random markers, along with an average polymorphic information constant value of 0.48 and 0.41 respectively. The correlation between the kinship matrix generated by trait-linked markers and the phenotype based distance matrix (0.29) was higher than that of random markers (0.19). This establishes the robustness of trait-linked markers over random markers in estimating genetic diversity of rice germplasm.

  1. Effect of cross-linked biodegradable polymers on sustained release of sodium diclofenac-loaded microspheres

    Directory of Open Access Journals (Sweden)

    Avik Kumar Saha

    2013-12-01

    Full Text Available The objective of this study was to formulate an oral sustained release delivery system of sodium diclofenac(DS based on sodium alginate (SA as a hydrophilic carrier in combination with chitosan (CH and sodium carboxymethyl cellulose (SCMC as drug release modifiers to overcome the drug-related adverse effects and to improve bioavailability. Microspheres of DS were prepared using an easy method of ionotropic gelation. The prepared beads were evaluated for mean particle size, entrapment efficiency, swelling capacity, erosion and in-vitro drug release. They were also subjected to various studies such as Fourier Transform Infra-Red Spectroscopy (FTIR for drug polymer compatibility, Scanning Electron Microscopy for surface morphology, X-ray Powder Diffraction Analysis (XRD and Differential Scanning Calorimetric Analysis (DSC to determine the physical state of the drug in the beads. The addition of SCMC during the preparation of polymeric beads resulted in lower drug loading and prolonged release of the DS. The release profile of batches F5 and F6 showed a maximum drug release of 96.97 ± 0.356% after 8 h, in which drug polymer ratio was decreased. The microspheres of sodium diclofenac with the polymers were formulated successfully. Analysis of the release profiles showed that the data corresponds to the diffusion-controlled mechanism as suggested by Higuchi.

  2. Lumbar loading in the elite adolescent tennis serve: link to low back pain.

    Science.gov (United States)

    Campbell, Amity; Straker, Leon; O'Sullivan, Peter; Elliott, Bruce; Reid, Machar

    2013-08-01

    This study aimed to quantify and compare lumbar region kinetics in kick and flat serves performed by elite, adolescent male players with and without a history of low back pain (LBP). Lumbar region kinematics, as well as racquet velocity and the position of the ball at impact, was described to facilitate kinetic data interpretation. Twenty Tennis Australia adolescent male players participated; 7 had a history of disabling LBP and confirmed L4/L5 injury and 13 were age-, height-, mass-, and performance-matched controls. The VICON motion analysis system was used to record racquet, upper and lower limb, trunk, and lumbar movement during three "flat" and three "kick" serves. A customized mathematical model calculated lumbar region kinetics/kinematics, racquet velocity, and ball position at impact, and these are reported as if all players were right-handed. A series of 2 × 2 mixed-model ANOVA were used to compare between pain/no pain and kick/flat serves. There was no significant difference in racquet velocity or ball position at impact between pain groups or serve types. The players with LBP reported significantly greater (mean difference = 1.5 N · kg(-1)) peak left lateral force than the control group. The flat serve was associated with significantly greater flexion moments (mean difference = 2.7 N · kg(-1)) than the kick serve. The lumbar region undergoes substantial loading during both the kick and the flat tennis serves, including lateral flexion forces approximately eight times those experienced during running. Given that these left lateral flexion forces are significantly greater in players with a history of disabling LBP and occur simultaneous with peak vertical force and extension and right lateral rotations, this may be an important LBP mechanism in this population.

  3. Mutation rate dynamics in a bacterial population reflect tension between adaptation and genetic load

    Science.gov (United States)

    Wielgoss, Sébastien; Barrick, Jeffrey E.; Tenaillon, Olivier; Wiser, Michael J.; Dittmar, W. James; Cruveiller, Stéphane; Chane-Woon-Ming, Béatrice; Médigue, Claudine; Lenski, Richard E.; Schneider, Dominique

    2013-01-01

    Mutations are the ultimate source of heritable variation for evolution. Understanding how mutation rates themselves evolve is thus essential for quantitatively understanding many evolutionary processes. According to theory, mutation rates should be minimized for well-adapted populations living in stable environments, whereas hypermutators may evolve if conditions change. However, the long-term fate of hypermutators is unknown. Using a phylogenomic approach, we found that an adapting Escherichia coli population that first evolved a mutT hypermutator phenotype was later invaded by two independent lineages with mutY mutations that reduced genome-wide mutation rates. Applying neutral theory to synonymous substitutions, we dated the emergence of these mutations and inferred that the mutT mutation increased the point-mutation rate by ∼150-fold, whereas the mutY mutations reduced the rate by ∼40–60%, with a corresponding decrease in the genetic load. Thus, the long-term fate of the hypermutators was governed by the selective advantage arising from a reduced mutation rate as the potential for further adaptation declined. PMID:23248287

  4. Consideration of data load time on modern processors for the Verlet table and linked-cell algorithms.

    Science.gov (United States)

    Fomin, Eduard S

    2011-05-01

    Neighbor search algorithms are widely used in molecular dynamics for the direct computation of short-range pairwise interatomic potentials. These algorithms are based on the Verlet table (VT) and linked-cell (LC) methods. It is widely believed that the VT is more efficient than the LC. The analysis of these methods shows that in case when the average number of interactions per particle is relatively large, or more specifically, the particle density ρ and skin radius r(skin) meet the condition (4π/6)ρr (skin)3/27 ≫ 1, which may be true for most simulations of liquids, the number of memory data load operations in the LC is much less than that in the VT. Because memory access on modern processors is a bottleneck, this advantage of the LC should be and was in fact used, and a code outperforming the VT by a factor of almost 2 was obtained. Some modifications of the VT were proposed to reduce its disadvantage concerning memory data loading. The key modifications included automated skin radius tuning during simulations and compression of the VT to minimize duplications of atom identifiers in its nearby rows. Although these modifications had improved the performance, the VT failed to regain the superiority over the LC. The methods were tested in the MOLKERN simulation software by using SIMD and multithreading. Copyright © 2011 Wiley Periodicals, Inc.

  5. Statistical modeling of the drug load distribution on trastuzumab emtansine (Kadcyla), a lysine-linked antibody drug conjugate.

    Science.gov (United States)

    Kim, Michael T; Chen, Yan; Marhoul, Joseph; Jacobson, Fred

    2014-07-16

    Trastuzumab emtansine (Kadcyla) is a recently approved antibody-drug conjugate produced by attachment of the anti-tubulin drug, DM1, to lysine amines via the SMCC linker. The resulting product exhibits a drug load distribution from 0 to 8 drugs per antibody that can be quantified using mass spectrometry. Different statistical models were tested against the experimental data derived from samples produced during process characterization studies to determine best fit. The Poisson distribution gives the best correlation for samples manufactured using the target process conditions (yielding the target average drug to antibody ratio (DAR) of 3.5) as well as those produced under conditions that exceed the allowed manufacturing ranges and yield products with average DAR values that are significantly different from the target (i.e., ≤3.0 or ≥4.0). The Poisson distribution establishes a link between average DAR values and drug load distributions, implying that measurement and control of the former (i.e., via a simple UV spectrophotometric method) could be used to indirectly control the latter in trastuzumab emtansine.

  6. MyGeneFriends: A Social Network Linking Genes, Genetic Diseases, and Researchers.

    Science.gov (United States)

    Allot, Alexis; Chennen, Kirsley; Nevers, Yannis; Poidevin, Laetitia; Kress, Arnaud; Ripp, Raymond; Thompson, Julie Dawn; Poch, Olivier; Lecompte, Odile

    2017-06-16

    The constant and massive increase of biological data offers unprecedented opportunities to decipher the function and evolution of genes and their roles in human diseases. However, the multiplicity of sources and flow of data mean that efficient access to useful information and knowledge production has become a major challenge. This challenge can be addressed by taking inspiration from Web 2.0 and particularly social networks, which are at the forefront of big data exploration and human-data interaction. MyGeneFriends is a Web platform inspired by social networks, devoted to genetic disease analysis, and organized around three types of proactive agents: genes, humans, and genetic diseases. The aim of this study was to improve exploration and exploitation of biological, postgenomic era big data. MyGeneFriends leverages conventions popularized by top social networks (Facebook, LinkedIn, etc), such as networks of friends, profile pages, friendship recommendations, affinity scores, news feeds, content recommendation, and data visualization. MyGeneFriends provides simple and intuitive interactions with data through evaluation and visualization of connections (friendships) between genes, humans, and diseases. The platform suggests new friends and publications and allows agents to follow the activity of their friends. It dynamically personalizes information depending on the user's specific interests and provides an efficient way to share information with collaborators. Furthermore, the user's behavior itself generates new information that constitutes an added value integrated in the network, which can be used to discover new connections between biological agents. We have developed MyGeneFriends, a Web platform leveraging conventions from popular social networks to redefine the relationship between humans and biological big data and improve human processing of biomedical data. MyGeneFriends is available at lbgi.fr/mygenefriends. ©Alexis Allot, Kirsley Chennen, Yannis

  7. Early sensitization of myofilaments to Ca2+ prevents genetically linked dilated cardiomyopathy in mice.

    Science.gov (United States)

    Alves, Marco L; Warren, Chad M; Simon, Jillian N; Gaffin, Robert D; Montminy, Eric M; Wieczorek, David F; Solaro, R John; Wolska, Beata M

    2017-07-01

    Dilated cardiomoypathies (DCM) are a heterogeneous group of inherited and acquired diseases characterized by decreased contractility and enlargement of cardiac chambers and a major cause of morbidity and mortality. Mice with Glu54Lys mutation in α-tropomyosin (Tm54) demonstrate typical DCM phenotype with reduced myofilament Ca2+ sensitivity. We tested the hypothesis that early sensitization of the myofilaments to Ca2+ in DCM can prevent the DCM phenotype. To sensitize Tm54 myofilaments, we used a genetic approach and crossbred Tm54 mice with mice expressing slow skeletal troponin I (ssTnI) that sensitizes myofilaments to Ca2+. Four groups of mice were used: non-transgenic (NTG), Tm54, ssTnI and Tm54/ssTnI (DTG). Systolic function was significantly reduced in the Tm54 mice compared to NTG, but restored in DTG mice. Tm54 mice also showed increased diastolic LV dimensions and HW/BW ratios, when compared to NTG, which were improved in the DTG group. β-myosin heavy chain expression was increased in the Tm54 animals compared to NTG and was partially restored in DTG group. Analysis by 2D-DIGE indicated a significant decrease in two phosphorylated spots of cardiac troponin I (cTnI) in the DTG animals compared to NTG and Tm54. Analysis by 2D-DIGE also indicated no significant changes in troponin T, regulatory light chain, myosin binding protein C and tropomyosin phosphorylation. Our data indicate that decreased myofilament Ca2+ sensitivity is an essential element in the pathophysiology of thin filament linked DCM. Sensitization of myofilaments to Ca2+ in the early stage of DCM may be a useful therapeutic strategy in thin filament linked DCM. Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2017. For permissions please email: journals.permissions@oup.com.

  8. Genetics Home Reference: alpha thalassemia X-linked intellectual disability syndrome

    Science.gov (United States)

    ... linked intellectual disability syndrome Alpha thalassemia X-linked intellectual disability syndrome Printable PDF Open All Close All Enable ... expand/collapse boxes. Description Alpha thalassemia X-linked intellectual disability syndrome is an inherited disorder that affects many ...

  9. Genetic diversity of different indigenous chicken ecotypes using highly polymorphic MHC-linked and non-MHC microsatellite markers

    NARCIS (Netherlands)

    Ngeno, K.; Waaij, van der E.H.; Megens, H.J.W.C.; Kahi, A.K.; Arendonk, van J.A.M.; Crooijmans, R.P.M.A.

    2015-01-01

    The study investigated the genetic make-up of different ecotypes of indigenous chickens (ICs) in Kenya based on major histocompatibility complex (MHC)-linked and non-MHC microsatellite markers. Blood samples were collected from eight regions (48 birds per region) of Kenya: Kakamega (KK), Siaya (BN),

  10. New genetic loci link adipose and insulin biology to body fat distribution

    Science.gov (United States)

    Strawbridge, Rona J; Pers, Tune H; Fischer, Krista; Justice, Anne E; Workalemahu, Tsegaselassie; Wu, Joseph M.W.; Buchkovich, Martin L; Heard-Costa, Nancy L; Roman, Tamara S; Drong, Alexander W; Song, Ci; Gustafsson, Stefan; Day, Felix R; Esko, Tonu; Fall, Tove; Kutalik, Zoltán; Luan, Jian’an; Randall, Joshua C; Scherag, André; Vedantam, Sailaja; Wood, Andrew R; Chen, Jin; Fehrmann, Rudolf; Karjalainen, Juha; Kahali, Bratati; Liu, Ching-Ti; Schmidt, Ellen M; Absher, Devin; Amin, Najaf; Anderson, Denise; Beekman, Marian; Bragg-Gresham, Jennifer L; Buyske, Steven; Demirkan, Ayse; Ehret, Georg B; Feitosa, Mary F; Goel, Anuj; Jackson, Anne U; Johnson, Toby; Kleber, Marcus E; Kristiansson, Kati; Mangino, Massimo; Leach, Irene Mateo; Medina-Gomez, Carolina; Palmer, Cameron D; Pasko, Dorota; Pechlivanis, Sonali; Peters, Marjolein J; Prokopenko, Inga; Stančáková, Alena; Sung, Yun Ju; Tanaka, Toshiko; Teumer, Alexander; Van Vliet-Ostaptchouk, Jana V; Yengo, Loïc; Zhang, Weihua; Albrecht, Eva; Ärnlöv, Johan; Arscott, Gillian M; Bandinelli, Stefania; Barrett, Amy; Bellis, Claire; Bennett, Amanda J; Berne, Christian; Blüher, Matthias; Böhringer, Stefan; Bonnet, Fabrice; Böttcher, Yvonne; Bruinenberg, Marcel; Carba, Delia B; Caspersen, Ida H; Clarke, Robert; Daw, E Warwick; Deelen, Joris; Deelman, Ewa; Delgado, Graciela; Doney, Alex SF; Eklund, Niina; Erdos, Michael R; Estrada, Karol; Eury, Elodie; Friedrich, Nele; Garcia, Melissa E; Giedraitis, Vilmantas; Gigante, Bruna; Go, Alan S; Golay, Alain; Grallert, Harald; Grammer, Tanja B; Gräßler, Jürgen; Grewal, Jagvir; Groves, Christopher J; Haller, Toomas; Hallmans, Goran; Hartman, Catharina A; Hassinen, Maija; Hayward, Caroline; Heikkilä, Kauko; Herzig, Karl-Heinz; Helmer, Quinta; Hillege, Hans L; Holmen, Oddgeir; Hunt, Steven C; Isaacs, Aaron; Ittermann, Till; James, Alan L; Johansson, Ingegerd; Juliusdottir, Thorhildur; Kalafati, Ioanna-Panagiota; Kinnunen, Leena; Koenig, Wolfgang; Kooner, Ishminder K; Kratzer, Wolfgang; Lamina, Claudia; Leander, Karin; Lee, Nanette R; Lichtner, Peter; Lind, Lars; Lindström, Jaana; Lobbens, Stéphane; Lorentzon, Mattias; Mach, François; Magnusson, Patrik KE; Mahajan, Anubha; McArdle, Wendy L; Menni, Cristina; Merger, Sigrun; Mihailov, Evelin; Milani, Lili; Mills, Rebecca; Moayyeri, Alireza; Monda, Keri L; Mooijaart, Simon P; Mühleisen, Thomas W; Mulas, Antonella; Müller, Gabriele; Müller-Nurasyid, Martina; Nagaraja, Ramaiah; Nalls, Michael A; Narisu, Narisu; Glorioso, Nicola; Nolte, Ilja M; Olden, Matthias; Rayner, Nigel W; Renstrom, Frida; Ried, Janina S; Robertson, Neil R; Rose, Lynda M; Sanna, Serena; Scharnagl, Hubert; Scholtens, Salome; Sennblad, Bengt; Seufferlein, Thomas; Sitlani, Colleen M; Smith, Albert Vernon; Stirrups, Kathleen; Stringham, Heather M; Sundström, Johan; Swertz, Morris A; Swift, Amy J; Syvänen, Ann-Christine; Tayo, Bamidele O; Thorand, Barbara; Thorleifsson, Gudmar; Tomaschitz, Andreas; Troffa, Chiara; van Oort, Floor VA; Verweij, Niek; Vonk, Judith M; Waite, Lindsay L; Wennauer, Roman; Wilsgaard, Tom; Wojczynski, Mary K; Wong, Andrew; Zhang, Qunyuan; Zhao, Jing Hua; Brennan, Eoin P.; Choi, Murim; Eriksson, Per; Folkersen, Lasse; Franco-Cereceda, Anders; Gharavi, Ali G; Hedman, Åsa K; Hivert, Marie-France; Huang, Jinyan; Kanoni, Stavroula; Karpe, Fredrik; Keildson, Sarah; Kiryluk, Krzysztof; Liang, Liming; Lifton, Richard P; Ma, Baoshan; McKnight, Amy J; McPherson, Ruth; Metspalu, Andres; Min, Josine L; Moffatt, Miriam F; Montgomery, Grant W; Murabito, Joanne M; Nicholson, George; Nyholt, Dale R; Olsson, Christian; Perry, John RB; Reinmaa, Eva; Salem, Rany M; Sandholm, Niina; Schadt, Eric E; Scott, Robert A; Stolk, Lisette; Vallejo, Edgar E.; Westra, Harm-Jan; Zondervan, Krina T; Amouyel, Philippe; Arveiler, Dominique; Bakker, Stephan JL; Beilby, John; Bergman, Richard N; Blangero, John; Brown, Morris J; Burnier, Michel; Campbell, Harry; Chakravarti, Aravinda; Chines, Peter S; Claudi-Boehm, Simone; Collins, Francis S; Crawford, Dana C; Danesh, John; de Faire, Ulf; de Geus, Eco JC; Dörr, Marcus; Erbel, Raimund; Eriksson, Johan G; Farrall, Martin; Ferrannini, Ele; Ferrières, Jean; Forouhi, Nita G; Forrester, Terrence; Franco, Oscar H; Gansevoort, Ron T; Gieger, Christian; Gudnason, Vilmundur; Haiman, Christopher A; Harris, Tamara B; Hattersley, Andrew T; Heliövaara, Markku; Hicks, Andrew A; Hingorani, Aroon D; Hoffmann, Wolfgang; Hofman, Albert; Homuth, Georg; Humphries, Steve E; Hyppönen, Elina; Illig, Thomas; Jarvelin, Marjo-Riitta; Johansen, Berit; Jousilahti, Pekka; Jula, Antti M; Kaprio, Jaakko; Kee, Frank; Keinanen-Kiukaanniemi, Sirkka M; Kooner, Jaspal S; Kooperberg, Charles; Kovacs, Peter; Kraja, Aldi T; Kumari, Meena; Kuulasmaa, Kari; Kuusisto, Johanna; Lakka, Timo A; Langenberg, Claudia; Le Marchand, Loic; Lehtimäki, Terho; Lyssenko, Valeriya; Männistö, Satu; Marette, André; Matise, Tara C; McKenzie, Colin A; McKnight, Barbara; Musk, Arthur W; Möhlenkamp, Stefan; Morris, Andrew D; Nelis, Mari; Ohlsson, Claes; Oldehinkel, Albertine J; Ong, Ken K; Palmer, Lyle J; Penninx, Brenda W; Peters, Annette; Pramstaller, Peter P; Raitakari, Olli T; Rankinen, Tuomo; Rao, DC; Rice, Treva K; Ridker, Paul M; Ritchie, Marylyn D.; Rudan, Igor; Salomaa, Veikko; Samani, Nilesh J; Saramies, Jouko; Sarzynski, Mark A; Schwarz, Peter EH; Shuldiner, Alan R; Staessen, Jan A; Steinthorsdottir, Valgerdur; Stolk, Ronald P; Strauch, Konstantin; Tönjes, Anke; Tremblay, Angelo; Tremoli, Elena; Vohl, Marie-Claude; Völker, Uwe; Vollenweider, Peter; Wilson, James F; Witteman, Jacqueline C; Adair, Linda S; Bochud, Murielle; Boehm, Bernhard O; Bornstein, Stefan R; Bouchard, Claude; Cauchi, Stéphane; Caulfield, Mark J; Chambers, John C; Chasman, Daniel I; Cooper, Richard S; Dedoussis, George; Ferrucci, Luigi; Froguel, Philippe; Grabe, Hans-Jörgen; Hamsten, Anders; Hui, Jennie; Hveem, Kristian; Jöckel, Karl-Heinz; Kivimaki, Mika; Kuh, Diana; Laakso, Markku; Liu, Yongmei; März, Winfried; Munroe, Patricia B; Njølstad, Inger; Oostra, Ben A; Palmer, Colin NA; Pedersen, Nancy L; Perola, Markus; Pérusse, Louis; Peters, Ulrike; Power, Chris; Quertermous, Thomas; Rauramaa, Rainer; Rivadeneira, Fernando; Saaristo, Timo E; Saleheen, Danish; Sinisalo, Juha; Slagboom, P Eline; Snieder, Harold; Spector, Tim D; Stefansson, Kari; Stumvoll, Michael; Tuomilehto, Jaakko; Uitterlinden, André G; Uusitupa, Matti; van der Harst, Pim; Veronesi, Giovanni; Walker, Mark; Wareham, Nicholas J; Watkins, Hugh; Wichmann, H-Erich; Abecasis, Goncalo R; Assimes, Themistocles L; Berndt, Sonja I; Boehnke, Michael; Borecki, Ingrid B; Deloukas, Panos; Franke, Lude; Frayling, Timothy M; Groop, Leif C; Hunter, David J.; Kaplan, Robert C; O’Connell, Jeffrey R; Qi, Lu; Schlessinger, David; Strachan, David P; Thorsteinsdottir, Unnur; van Duijn, Cornelia M; Willer, Cristen J; Visscher, Peter M; Yang, Jian; Hirschhorn, Joel N; Zillikens, M Carola; McCarthy, Mark I; Speliotes, Elizabeth K; North, Kari E; Fox, Caroline S; Barroso, Inês; Franks, Paul W; Ingelsson, Erik; Heid, Iris M; Loos, Ruth JF; Cupples, L Adrienne; Morris, Andrew P; Lindgren, Cecilia M; Mohlke, Karen L

    2014-01-01

    Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, we conducted genome-wide association meta-analyses of waist and hip circumference-related traits in up to 224,459 individuals. We identified 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (WHRadjBMI) and an additional 19 loci newly associated with related waist and hip circumference measures (P<5×10−8). Twenty of the 49 WHRadjBMI loci showed significant sexual dimorphism, 19 of which displayed a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation, and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms. PMID:25673412

  11. The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis

    Science.gov (United States)

    Wiesinger, Christoph; Eichler, Florian S; Berger, Johannes

    2015-01-01

    X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene encoding a peroxisomal ABC transporter. In this review, we compare estimates of incidence derived from different populations in order to provide an overview of the worldwide incidence of X-ALD. X-ALD presents with heterogeneous phenotypes ranging from adrenomyeloneuropathy (AMN) to inflammatory demyelinating cerebral ALD (CALD). A large number of different mutations has been described, providing a unique opportunity for analysis of functional domains within ABC transporters. Yet the molecular basis for the heterogeneity of clinical symptoms is still largely unresolved, as no correlation between genotype and phenotype exists in X-ALD. Beyond ABCD1, environmental triggers and other genetic factors have been suggested as modifiers of the disease course. Here, we summarize the findings of numerous reports that aimed at identifying modifier genes in X-ALD and discuss potential problems and future approaches to address this issue. Different options for prenatal diagnosis are summarized, and potential pitfalls when applying next-generation sequencing approaches are discussed. Recently, the measurement of very long-chain fatty acids in lysophosphatidylcholine for the identification of peroxisomal disorders was included in newborn screening programs. PMID:25999754

  12. New genetic loci link adipose and insulin biology to body fat distribution.

    Science.gov (United States)

    Shungin, Dmitry; Winkler, Thomas W; Croteau-Chonka, Damien C; Ferreira, Teresa; Locke, Adam E; Mägi, Reedik; Strawbridge, Rona J; Pers, Tune H; Fischer, Krista; Justice, Anne E; Workalemahu, Tsegaselassie; Wu, Joseph M W; Buchkovich, Martin L; Heard-Costa, Nancy L; Roman, Tamara S; Drong, Alexander W; Song, Ci; Gustafsson, Stefan; Day, Felix R; Esko, Tonu; Fall, Tove; Kutalik, Zoltán; Luan, Jian'an; Randall, Joshua C; Scherag, André; Vedantam, Sailaja; Wood, Andrew R; Chen, Jin; Fehrmann, Rudolf; Karjalainen, Juha; Kahali, Bratati; Liu, Ching-Ti; Schmidt, Ellen M; Absher, Devin; Amin, Najaf; Anderson, Denise; Beekman, Marian; Bragg-Gresham, Jennifer L; Buyske, Steven; Demirkan, Ayse; Ehret, Georg B; Feitosa, Mary F; Goel, Anuj; Jackson, Anne U; Johnson, Toby; Kleber, Marcus E; Kristiansson, Kati; Mangino, Massimo; Leach, Irene Mateo; Medina-Gomez, Carolina; Palmer, Cameron D; Pasko, Dorota; Pechlivanis, Sonali; Peters, Marjolein J; Prokopenko, Inga; Stančáková, Alena; Sung, Yun Ju; Tanaka, Toshiko; Teumer, Alexander; Van Vliet-Ostaptchouk, Jana V; Yengo, Loïc; Zhang, Weihua; Albrecht, Eva; Ärnlöv, Johan; Arscott, Gillian M; Bandinelli, Stefania; Barrett, Amy; Bellis, Claire; Bennett, Amanda J; Berne, Christian; Blüher, Matthias; Böhringer, Stefan; Bonnet, Fabrice; Böttcher, Yvonne; Bruinenberg, Marcel; Carba, Delia B; Caspersen, Ida H; Clarke, Robert; Daw, E Warwick; Deelen, Joris; Deelman, Ewa; Delgado, Graciela; Doney, Alex Sf; Eklund, Niina; Erdos, Michael R; Estrada, Karol; Eury, Elodie; Friedrich, Nele; Garcia, Melissa E; Giedraitis, Vilmantas; Gigante, Bruna; Go, Alan S; Golay, Alain; Grallert, Harald; Grammer, Tanja B; Gräßler, Jürgen; Grewal, Jagvir; Groves, Christopher J; Haller, Toomas; Hallmans, Goran; Hartman, Catharina A; Hassinen, Maija; Hayward, Caroline; Heikkilä, Kauko; Herzig, Karl-Heinz; Helmer, Quinta; Hillege, Hans L; Holmen, Oddgeir; Hunt, Steven C; Isaacs, Aaron; Ittermann, Till; James, Alan L; Johansson, Ingegerd; Juliusdottir, Thorhildur; Kalafati, Ioanna-Panagiota; Kinnunen, Leena; Koenig, Wolfgang; Kooner, Ishminder K; Kratzer, Wolfgang; Lamina, Claudia; Leander, Karin; Lee, Nanette R; Lichtner, Peter; Lind, Lars; Lindström, Jaana; Lobbens, Stéphane; Lorentzon, Mattias; Mach, François; Magnusson, Patrik Ke; Mahajan, Anubha; McArdle, Wendy L; Menni, Cristina; Merger, Sigrun; Mihailov, Evelin; Milani, Lili; Mills, Rebecca; Moayyeri, Alireza; Monda, Keri L; Mooijaart, Simon P; Mühleisen, Thomas W; Mulas, Antonella; Müller, Gabriele; Müller-Nurasyid, Martina; Nagaraja, Ramaiah; Nalls, Michael A; Narisu, Narisu; Glorioso, Nicola; Nolte, Ilja M; Olden, Matthias; Rayner, Nigel W; Renstrom, Frida; Ried, Janina S; Robertson, Neil R; Rose, Lynda M; Sanna, Serena; Scharnagl, Hubert; Scholtens, Salome; Sennblad, Bengt; Seufferlein, Thomas; Sitlani, Colleen M; Smith, Albert Vernon; Stirrups, Kathleen; Stringham, Heather M; Sundström, Johan; Swertz, Morris A; Swift, Amy J; Syvänen, Ann-Christine; Tayo, Bamidele O; Thorand, Barbara; Thorleifsson, Gudmar; Tomaschitz, Andreas; Troffa, Chiara; van Oort, Floor Va; Verweij, Niek; Vonk, Judith M; Waite, Lindsay L; Wennauer, Roman; Wilsgaard, Tom; Wojczynski, Mary K; Wong, Andrew; Zhang, Qunyuan; Zhao, Jing Hua; Brennan, Eoin P; Choi, Murim; Eriksson, Per; Folkersen, Lasse; Franco-Cereceda, Anders; Gharavi, Ali G; Hedman, Åsa K; Hivert, Marie-France; Huang, Jinyan; Kanoni, Stavroula; Karpe, Fredrik; Keildson, Sarah; Kiryluk, Krzysztof; Liang, Liming; Lifton, Richard P; Ma, Baoshan; McKnight, Amy J; McPherson, Ruth; Metspalu, Andres; Min, Josine L; Moffatt, Miriam F; Montgomery, Grant W; Murabito, Joanne M; Nicholson, George; Nyholt, Dale R; Olsson, Christian; Perry, John Rb; Reinmaa, Eva; Salem, Rany M; Sandholm, Niina; Schadt, Eric E; Scott, Robert A; Stolk, Lisette; Vallejo, Edgar E; Westra, Harm-Jan; Zondervan, Krina T; Amouyel, Philippe; Arveiler, Dominique; Bakker, Stephan Jl; Beilby, John; Bergman, Richard N; Blangero, John; Brown, Morris J; Burnier, Michel; Campbell, Harry; Chakravarti, Aravinda; Chines, Peter S; Claudi-Boehm, Simone; Collins, Francis S; Crawford, Dana C; Danesh, John; de Faire, Ulf; de Geus, Eco Jc; Dörr, Marcus; Erbel, Raimund; Eriksson, Johan G; Farrall, Martin; Ferrannini, Ele; Ferrières, Jean; Forouhi, Nita G; Forrester, Terrence; Franco, Oscar H; Gansevoort, Ron T; Gieger, Christian; Gudnason, Vilmundur; Haiman, Christopher A; Harris, Tamara B; Hattersley, Andrew T; Heliövaara, Markku; Hicks, Andrew A; Hingorani, Aroon D; Hoffmann, Wolfgang; Hofman, Albert; Homuth, Georg; Humphries, Steve E; Hyppönen, Elina; Illig, Thomas; Jarvelin, Marjo-Riitta; Johansen, Berit; Jousilahti, Pekka; Jula, Antti M; Kaprio, Jaakko; Kee, Frank; Keinanen-Kiukaanniemi, Sirkka M; Kooner, Jaspal S; Kooperberg, Charles; Kovacs, Peter; Kraja, Aldi T; Kumari, Meena; Kuulasmaa, Kari; Kuusisto, Johanna; Lakka, Timo A; Langenberg, Claudia; Le Marchand, Loic; Lehtimäki, Terho; Lyssenko, Valeriya; Männistö, Satu; Marette, André; Matise, Tara C; McKenzie, Colin A; McKnight, Barbara; Musk, Arthur W; Möhlenkamp, Stefan; Morris, Andrew D; Nelis, Mari; Ohlsson, Claes; Oldehinkel, Albertine J; Ong, Ken K; Palmer, Lyle J; Penninx, Brenda W; Peters, Annette; Pramstaller, Peter P; Raitakari, Olli T; Rankinen, Tuomo; Rao, D C; Rice, Treva K; Ridker, Paul M; Ritchie, Marylyn D; Rudan, Igor; Salomaa, Veikko; Samani, Nilesh J; Saramies, Jouko; Sarzynski, Mark A; Schwarz, Peter Eh; Shuldiner, Alan R; Staessen, Jan A; Steinthorsdottir, Valgerdur; Stolk, Ronald P; Strauch, Konstantin; Tönjes, Anke; Tremblay, Angelo; Tremoli, Elena; Vohl, Marie-Claude; Völker, Uwe; Vollenweider, Peter; Wilson, James F; Witteman, Jacqueline C; Adair, Linda S; Bochud, Murielle; Boehm, Bernhard O; Bornstein, Stefan R; Bouchard, Claude; Cauchi, Stéphane; Caulfield, Mark J; Chambers, John C; Chasman, Daniel I; Cooper, Richard S; Dedoussis, George; Ferrucci, Luigi; Froguel, Philippe; Grabe, Hans-Jörgen; Hamsten, Anders; Hui, Jennie; Hveem, Kristian; Jöckel, Karl-Heinz; Kivimaki, Mika; Kuh, Diana; Laakso, Markku; Liu, Yongmei; März, Winfried; Munroe, Patricia B; Njølstad, Inger; Oostra, Ben A; Palmer, Colin Na; Pedersen, Nancy L; Perola, Markus; Pérusse, Louis; Peters, Ulrike; Power, Chris; Quertermous, Thomas; Rauramaa, Rainer; Rivadeneira, Fernando; Saaristo, Timo E; Saleheen, Danish; Sinisalo, Juha; Slagboom, P Eline; Snieder, Harold; Spector, Tim D; Stefansson, Kari; Stumvoll, Michael; Tuomilehto, Jaakko; Uitterlinden, André G; Uusitupa, Matti; van der Harst, Pim; Veronesi, Giovanni; Walker, Mark; Wareham, Nicholas J; Watkins, Hugh; Wichmann, H-Erich; Abecasis, Goncalo R; Assimes, Themistocles L; Berndt, Sonja I; Boehnke, Michael; Borecki, Ingrid B; Deloukas, Panos; Franke, Lude; Frayling, Timothy M; Groop, Leif C; Hunter, David J; Kaplan, Robert C; O'Connell, Jeffrey R; Qi, Lu; Schlessinger, David; Strachan, David P; Thorsteinsdottir, Unnur; van Duijn, Cornelia M; Willer, Cristen J; Visscher, Peter M; Yang, Jian; Hirschhorn, Joel N; Zillikens, M Carola; McCarthy, Mark I; Speliotes, Elizabeth K; North, Kari E; Fox, Caroline S; Barroso, Inês; Franks, Paul W; Ingelsson, Erik; Heid, Iris M; Loos, Ruth Jf; Cupples, L Adrienne; Morris, Andrew P; Lindgren, Cecilia M; Mohlke, Karen L

    2015-02-12

    Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms.

  13. Clinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia

    Science.gov (United States)

    Chen, Xia-Fang; Wang, Wei-Fan; Zhang, Yi-Dan; Zhao, Wei; Wu, Jing; Chen, Tong-Xin

    2016-01-01

    Abstract X-linked agammaglobulinemia (XLA) is a humoral primary immunodeficiency. XLA patients typically present with very low numbers of peripheral B cells and a profound deficiency of all immunoglobulin isotypes. Most XLA patients carry mutations in Bruton tyrosine kinase (BTK) gene. The genetic background and clinical features of 174 Chinese patients with XLA were investigated. The relationship between specific BTK gene mutations and severity of clinical manifestations was also examined. Mutations were graded from mild to severe based on structural and functional prediction through bioinformatics analysis. One hundred twenty-seven mutations were identified in 142 patients from 124 families, including 45 novel mutations and 82 recurrent mutations that were distributed over the entire BTK gene sequence. Variation in phenotypes was observed, and there was a tendency of association between genotype and age of disease onset. This report constitutes the largest group of patients with BTK mutations in China. A genotype–phenotype correlation was observed in this study. Early diagnosis of congenital agammaglobulinemia should be based on clinical symptoms, family history, and molecular analysis of the BTK gene. PMID:27512878

  14. Investigating the genetic load of an emblematic invasive species: the case of the invasive harlequin ladybird Harmonia axyridis.

    Science.gov (United States)

    Tayeh, A; Estoup, A; Hufbauer, R A; Ravigne, V; Goryacheva, I; Zakharov, I A; Lombaert, E; Facon, B

    2013-04-01

    Introduction events can lead to admixture between genetically differentiated populations and bottlenecks in population size. These processes can alter the adaptive potential of invasive species by shaping genetic variation, but more importantly, they can also directly affect mean population fitness either increasing it or decreasing it. Which outcome is observed depends on the structure of the genetic load of the species. The ladybird Harmonia axyridis is a good example of invasive species where introduced populations have gone through admixture and bottleneck events. We used laboratory experiments to manipulate the relatedness among H. axyridis parental individuals to assess the possibility for heterosis or outbreeding depression in F1 generation offspring for two traits related to fitness (lifetime performance and generation time). We found that inter-populations crosses had no major impact on the lifetime performance of the offspring produced by individuals from either native or invasive populations. Significant outbreeding depression was observed only for crosses between native populations for generation time. The absence of observed heterosis is indicative of a low occurrence of fixed deleterious mutations within both the native and invasive populations of H. axyridis. The observed deterioration of fitness in native inter-population crosses most likely results from genetic incompatibilities between native genomic backgrounds. We discuss the implications of these results for the structure of genetic load in H. axyridis in the light of the available information regarding the introduction history of this species.

  15. Heuristic rules embedded genetic algorithm to solve VVER loading pattern optimization problem

    International Nuclear Information System (INIS)

    Fatih, Alim; Kostandi, Ivanov

    2006-01-01

    Full text: Loading Pattern (LP) optimization is one of the most important aspects of the operation of nuclear reactors. A genetic algorithm (GA) code GARCO (Genetic Algorithm Reactor Optimization Code) has been developed with embedded heuristic techniques to perform optimization calculations for in-core fuel management tasks. GARCO is a practical tool that includes a unique methodology applicable for all types of Pressurized Water Reactor (PWR) cores having different geometries with an unlimited number of FA types in the inventory. GARCO was developed by modifying the classical representation of the genotype. Both the genotype representation and the basic algorithm have been modified to incorporate the in-core fuel management heuristics rules so as to obtain the best results in a shorter time. GARCO has three modes. Mode 1 optimizes the locations of the fuel assemblies (FAs) in the nuclear reactor core, Mode 2 optimizes the placement of the burnable poisons (BPs) in a selected LP, and Mode 3 optimizes simultaneously both the LP and the BP placement in the core. This study describes the basic algorithm for Mode 1. The GARCO code is applied to the VVER-1000 reactor hexagonal geometry core in this study. The M oby-Dick i s used as reactor physics code to deplete FAs in the core. It was developed to analyze the VVER reactors by SKODA Inc. To use these rules for creating the initial population with GA operators, the worth definition application is developed. Each FA has a worth value for each location. This worth is between 0 and 1. If worth of any FA for a location is larger than 0.5, this FA in this location is a good choice. When creating the initial population of LPs, a subroutine provides a percent of individuals, which have genes with higher than the 0.5 worth. The percentage of the population to be created without using worth definition is defined in the GARCO input. And also age concept has been developed to accelerate the GA calculation process in reaching the

  16. An Efficient Stepwise Statistical Test to Identify Multiple Linked Human Genetic Variants Associated with Specific Phenotypic Traits.

    Directory of Open Access Journals (Sweden)

    Iksoo Huh

    Full Text Available Recent advances in genotyping methodologies have allowed genome-wide association studies (GWAS to accurately identify genetic variants that associate with common or pathological complex traits. Although most GWAS have focused on associations with single genetic variants, joint identification of multiple genetic variants, and how they interact, is essential for understanding the genetic architecture of complex phenotypic traits. Here, we propose an efficient stepwise method based on the Cochran-Mantel-Haenszel test (for stratified categorical data to identify causal joint multiple genetic variants in GWAS. This method combines the CMH statistic with a stepwise procedure to detect multiple genetic variants associated with specific categorical traits, using a series of associated I × J contingency tables and a null hypothesis of no phenotype association. Through a new stratification scheme based on the sum of minor allele count criteria, we make the method more feasible for GWAS data having sample sizes of several thousands. We also examine the properties of the proposed stepwise method via simulation studies, and show that the stepwise CMH test performs better than other existing methods (e.g., logistic regression and detection of associations by Markov blanket for identifying multiple genetic variants. Finally, we apply the proposed approach to two genomic sequencing datasets to detect linked genetic variants associated with bipolar disorder and obesity, respectively.

  17. A Survey on Investigating the Need for Intelligent Power-Aware Load Balanced Routing Protocols for Handling Critical Links in MANETs

    Directory of Open Access Journals (Sweden)

    B. Sivakumar

    2014-01-01

    Full Text Available In mobile ad hoc networks connectivity is always an issue of concern. Due to dynamism in the behavior of mobile nodes, efficiency shall be achieved only with the assumption of good network infrastructure. Presence of critical links results in deterioration which should be detected in advance to retain the prevailing communication setup. This paper discusses a short survey on the specialized algorithms and protocols related to energy efficient load balancing for critical link detection in the recent literature. This paper also suggests a machine learning based hybrid power-aware approach for handling critical nodes via load balancing.

  18. A survey on investigating the need for intelligent power-aware load balanced routing protocols for handling critical links in MANETs.

    Science.gov (United States)

    Sivakumar, B; Bhalaji, N; Sivakumar, D

    2014-01-01

    In mobile ad hoc networks connectivity is always an issue of concern. Due to dynamism in the behavior of mobile nodes, efficiency shall be achieved only with the assumption of good network infrastructure. Presence of critical links results in deterioration which should be detected in advance to retain the prevailing communication setup. This paper discusses a short survey on the specialized algorithms and protocols related to energy efficient load balancing for critical link detection in the recent literature. This paper also suggests a machine learning based hybrid power-aware approach for handling critical nodes via load balancing.

  19. PKCα is genetically linked to memory capacity in healthy subjects and to risk for posttraumatic stress disorder in genocide survivors.

    Science.gov (United States)

    de Quervain, Dominique J-F; Kolassa, Iris-Tatjana; Ackermann, Sandra; Aerni, Amanda; Boesiger, Peter; Demougin, Philippe; Elbert, Thomas; Ertl, Verena; Gschwind, Leo; Hadziselimovic, Nils; Hanser, Edveena; Heck, Angela; Hieber, Petra; Huynh, Kim-Dung; Klarhöfer, Markus; Luechinger, Roger; Rasch, Björn; Scheffler, Klaus; Spalek, Klara; Stippich, Christoph; Vogler, Christian; Vukojevic, Vanja; Stetak, Attila; Papassotiropoulos, Andreas

    2012-05-29

    Strong memory of a traumatic event is thought to contribute to the development and symptoms of posttraumatic stress disorder (PTSD). Therefore, a genetic predisposition to build strong memories could lead to increased risk for PTSD after a traumatic event. Here we show that genetic variability of the gene encoding PKCα (PRKCA) was associated with memory capacity--including aversive memory--in nontraumatized subjects of European descent. This finding was replicated in an independent sample of nontraumatized subjects, who additionally underwent functional magnetic resonance imaging (fMRI). fMRI analysis revealed PRKCA genotype-dependent brain activation differences during successful encoding of aversive information. Further, the identified genetic variant was also related to traumatic memory and to the risk for PTSD in heavily traumatized survivors of the Rwandan genocide. Our results indicate a role for PKCα in memory and suggest a genetic link between memory and the risk for PTSD.

  20. A short-term load forecasting model of natural gas based on optimized genetic algorithm and improved BP neural network

    International Nuclear Information System (INIS)

    Yu, Feng; Xu, Xiaozhong

    2014-01-01

    Highlights: • A detailed data processing will make more accurate results prediction. • Taking a full account of more load factors to improve the prediction precision. • Improved BP network obtains higher learning convergence. • Genetic algorithm optimized by chaotic cat map enhances the global search ability. • The combined GA–BP model improved by modified additional momentum factor is superior to others. - Abstract: This paper proposes an appropriate combinational approach which is based on improved BP neural network for short-term gas load forecasting, and the network is optimized by the real-coded genetic algorithm. Firstly, several kinds of modifications are carried out on the standard neural network to accelerate the convergence speed of network, including improved additional momentum factor, improved self-adaptive learning rate and improved momentum and self-adaptive learning rate. Then, it is available to use the global search capability of optimized genetic algorithm to determine the initial weights and thresholds of BP neural network to avoid being trapped in local minima. The ability of GA is enhanced by cat chaotic mapping. In light of the characteristic of natural gas load for Shanghai, a series of data preprocessing methods are adopted and more comprehensive load factors are taken into account to improve the prediction accuracy. Such improvements facilitate forecasting efficiency and exert maximum performance of the model. As a result, the integration model improved by modified additional momentum factor gets more ideal solutions for short-term gas load forecasting, through analyses and comparisons of the above several different combinational algorithms

  1. The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis

    Directory of Open Access Journals (Sweden)

    Wiesinger C

    2015-05-01

    Full Text Available Christoph Wiesinger,1 Florian S Eichler,2 Johannes Berger1 1Department of Pathobiology of the Nervous System, Center for Brain Research, Medical University of Vienna, Vienna, Austria; 2Department for Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA Abstract: X-linked adrenoleukodystrophy (X-ALD is caused by mutations in the ABCD1 gene encoding a peroxisomal ABC transporter. In this review, we compare estimates of incidence derived from different populations in order to provide an overview of the worldwide incidence of X-ALD. X-ALD presents with heterogeneous phenotypes ranging from adrenomyeloneuropathy (AMN to inflammatory demyelinating cerebral ALD (CALD. A large number of different mutations has been described, providing a unique opportunity for analysis of functional domains within ABC transporters. Yet the molecular basis for the heterogeneity of clinical symptoms is still largely unresolved, as no correlation between genotype and phenotype exists in X-ALD. Beyond ABCD1, environmental triggers and other genetic factors have been suggested as modifiers of the disease course. Here, we summarize the findings of numerous reports that aimed at identifying modifier genes in X-ALD and discuss potential problems and future approaches to address this issue. Different options for prenatal diagnosis are summarized, and potential pitfalls when applying next-generation sequencing approaches are discussed. Recently, the measurement of very long-chain fatty acids in lysophosphatidylcholine for the identification of peroxisomal disorders was included in newborn screening programs. Keywords: X-ALD, AMN, mutations, incidence, prenatal diagnosis, newborn screening

  2. Genetics Home Reference: X-linked hyper IgM syndrome

    Science.gov (United States)

    ... Conditions X-linked hyper IgM syndrome X-linked hyper IgM syndrome Printable PDF Open All Close All ... view the expand/collapse boxes. Description X-linked hyper IgM syndrome is a condition that affects the ...

  3. Evidence of Mitochondrial Dysfunction in Autism: Biochemical Links, Genetic-Based Associations, and Non-Energy-Related Mechanisms

    Directory of Open Access Journals (Sweden)

    Keren K. Griffiths

    2017-01-01

    Full Text Available Autism spectrum disorder (ASD, the fastest growing developmental disability in the United States, represents a group of neurodevelopmental disorders characterized by impaired social interaction and communication as well as restricted and repetitive behavior. The underlying cause of autism is unknown and therapy is currently limited to targeting behavioral abnormalities. Emerging studies suggest a link between mitochondrial dysfunction and ASD. Here, we review the evidence demonstrating this potential connection. We focus specifically on biochemical links, genetic-based associations, non-energy related mechanisms, and novel therapeutic strategies.

  4. A genome-wide polyketide synthase deletion library uncovers novel genetic links to polyketides and meroterpenoids in Aspergillus nidulans

    DEFF Research Database (Denmark)

    Nielsen, Michael Lynge; Nielsen, Jakob Blæsbjerg; Rank, Christian

    2011-01-01

    by systematically deleting all 32 individual genes encoding polyketide synthases. Wild-type and all mutant strains were challenged on different complex media to provoke induction of the secondary metabolism. Screening of the mutant library revealed direct genetic links to two austinol meroterpenoids and expanded...... the current understanding of the biosynthetic pathways leading to arugosins and violaceols. We expect that the library will be an important resource towards a systemic understanding of polyketide production in A. nidulans....

  5. Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease

    Science.gov (United States)

    Lu, Yuan-Yuan; Lyu, He; Jin, Su-Qin; Zuo, Yue-Huan; Liu, Jing; Wang, Zhao-Xia; Zhang, Wei; Yuan, Yun

    2017-01-01

    Background: X-linked Charcot-Marie-Tooth type 1 (CMT1X) disease is one of the most common forms of inherited neuropathy caused by mutations in the gap junction beta-1 protein (GJB1) gene (also known as connexin 32). This study presented the clinical and genetic features of a series of Chinese patients with GJB1 gene mutations. Methods: A total of 22 patients from unrelated families, who were referred to Department of Neurology, Peking University First Hospital from January 2005 to January 2016, were identified with GJB1 mutations. Their clinical records and laboratory findings were retrospectively collected and reviewed. Mutations in the GJB1 gene were analyzed by targeted next-generation sequencing (NGS). Nucleotide alternations were confirmed with Sanger sequencing. Results: The CMT1X patients predominantly showed distal muscle weakness of lower limbs with mild sensory disturbance. The mean age of onset was 15.6 ± 8.7 years (ranging from 1 year to 42 years). The sudden onset of cerebral symptoms appeared in four patients (18.2%); two were initial symptoms. One case had constant central nervous system (CNS) signs. There were 19 different heterozygous mutations, including 15 known mutations and four novel mutations (c.115G>T, c.380T>A, c.263C>A, and c.818_819insGGGCT). Among the 22 Chinese patients with CMT1X, the frequency of the GJB1 mutation was 4.5% in transmembrane domain 1 (TM1), 4.5% in TM2, 22.7% in TM3, 9.1% in TM4, 4.5% in extracellular 1 (EC1), 27.3% in EC2, 9.1% in intracellular loop, 13.6% in the N-terminal domain, and 4.5% in the C-terminal domain. CMT1X with CNS impairment appeared in five (22.7%) of these patients. Conclusions: This study indicated that CNS impairment was not rare in Chinese CMT1X patients. Mutations in the EC2 domain of the GJB1 gene were hotspot in Chinese CMT1X patients. PMID:28469099

  6. Cost-effectiveness analysis of carrier and prenatal genetic testing for X-linked hemophilia

    Directory of Open Access Journals (Sweden)

    Meng-Che Tsai

    2015-08-01

    Conclusion: Carrier and prenatal genetic testing for hemophilia is a cost-effective investment in healthcare allocation. A case management system should be integrated in the current practice to facilitate patient care (e.g., collecting family pedigrees and providing genetic counseling.

  7. Effect of cross-linking on properties and release characteristics of sodium salicylate-loaded electrospun poly(vinyl alcohol) fibre mats

    International Nuclear Information System (INIS)

    Taepaiboon, Pattama; Rungsardthong, Uracha; Supaphol, Pitt

    2007-01-01

    Cross-linking of electrospun (e-spun) fibre mats (beaded fibre morphology with the average diameter of the fibre segments between beads being ∼108 nm) of poly(vinyl alcohol) (PVA) containing sodium salicylate (SS), used as the model drug, was achieved by exposing the fibre mats to the vapour from 5.6 M aqueous solution of either glutaraldehyde or glyoxal for various exposure time intervals, followed by a heat treatment in a vacuum oven. With increasing the exposure time in the cross-linking chamber, the morphology of the e-spun fibre mats gradually changed from a porous to dense structure. Both the degree of swelling and the percentage of weight loss of the cross-linked fibre mats (i.e. ∼200-530% and ∼15-57%, respectively) were lower than those of the untreated ones (i.e. ∼610% and ∼67%, respectively). Cross-linking was also responsible for the monotonic increase in the storage moduli of the cross-linked SS-loaded e-spun PVA fibre mats with increasing exposure time in the cross-linking chamber. The release characteristic of the model drug from the SS-loaded e-spun PVA fibre mats both before and after cross-linking was assessed by the transdermal diffusion through a pig skin method. The cumulative release of the drug from these matrices could be divided into two stages: 0-4 and 4-72 h, in which the amount of SS released in the first stage increased very rapidly, while it was much slower in the second stage. Cross-linking slowed down the release of SS from the drug-loaded fibre mats appreciably and both the rate of release and the total amount of the drug released were decreasing functions of the exposure time interval in the cross-linking chamber. Lastly, the cross-linked SS-loaded e-spun PVA fibre mats were non-toxic to normal human dermal fibroblasts

  8. Not the time or the place: the missing spatio-temporal link in publicly available genetic data.

    Science.gov (United States)

    Pope, Lisa C; Liggins, Libby; Keyse, Jude; Carvalho, Silvia B; Riginos, Cynthia

    2015-08-01

    Genetic data are being generated at unprecedented rates. Policies of many journals, institutions and funding bodies aim to ensure that these data are publicly archived so that published results are reproducible. Additionally, publicly archived data can be 'repurposed' to address new questions in the future. In 2011, along with other leading journals in ecology and evolution, Molecular Ecology implemented mandatory public data archiving (the Joint Data Archiving Policy). To evaluate the effect of this policy, we assessed the genetic, spatial and temporal data archived for 419 data sets from 289 articles in Molecular Ecology from 2009 to 2013. We then determined whether archived data could be used to reproduce analyses as presented in the manuscript. We found that the journal's mandatory archiving policy has had a substantial positive impact, increasing genetic data archiving from 49 (pre-2011) to 98% (2011-present). However, 31% of publicly archived genetic data sets could not be recreated based on information supplied in either the manuscript or public archives, with incomplete data or inconsistent codes linking genetic data and metadata as the primary reasons. While the majority of articles did provide some geographic information, 40% did not provide this information as geographic coordinates. Furthermore, a large proportion of articles did not contain any information regarding date of sampling (40%). Although the inclusion of spatio-temporal data does require an increase in effort, we argue that the enduring value of publicly accessible genetic data to the molecular ecology field is greatly compromised when such metadata are not archived alongside genetic data. © 2015 John Wiley & Sons Ltd.

  9. Using HexSim to link demography and genetics in animal and plant simulations

    Science.gov (United States)

    Simulation models are essential for understanding the effects of land management practices and environmental drivers, including landscape change, shape population genetic structure and persistence probabilities. The emerging field of eco-evolutionary modeling is beginning to dev...

  10. Survival of the scheming: a genetically informed link between the dark triad and mental toughness.

    Science.gov (United States)

    Onley, Michael; Veselka, Livia; Schermer, Julie Aitken; Vernon, Philip A

    2013-12-01

    The present study is the first behavioral genetic investigation of the Dark Triad traits of personality, consisting of Machiavellianism, narcissism, and psychopathy, and the variable of mental toughness, reflecting individual differences in the ability to cope when under pressure. The purpose of this investigation was to explore a potential explanation for the success of individuals exhibiting the Dark Triad traits in workplace and social settings. Participants were adult twins who completed the MACH-IV, the Narcissistic Personality Inventory, and the Self-Report Psychopathy Scale assessing Machiavellianism, narcissism, and psychopathy, respectively, as well as the MT48, measuring mental toughness. Correlational analyses of the data revealed significant positive phenotypic associations between mental toughness and narcissism. Psychopathy and Machiavellianism, however, both showed some significant negative phenotypic correlations with mental toughness. Bivariate behavioral genetic analyses of the data were conducted to assess the extent to which these significant phenotypic correlations were attributable to common genetic and/or common environmental factors. Results indicate that correlations between narcissism and mental toughness were attributable primarily to common non-shared environmental factors, correlations between Machiavellianism and mental toughness were influenced by both common genetic and common non-shared environmental factors, and the correlations between psychopathy and mental toughness were attributable entirely to correlated genetic factors. Implications of these findings in the context of etiology and organizational adaptation are discussed.

  11. [Hypothetical link between endometriosis and xenobiotics-associated genetically modified food].

    Science.gov (United States)

    Aris, A; Paris, K

    2010-12-01

    Endometriosis is an oestrogen-dependent inflammatory disease affecting 10 % of reproductive-aged women. Often accompanied by chronic pelvic pain and infertility, endometriosis rigorously interferes with women's quality of life. Although the pathophysiology of endometriosis remains unclear, a growing body of evidence points to the implication of environmental toxicants. Over the last decade, an increase in the incidence of endometriosis has been reported and coincides with the introduction of genetically modified foods in our diet. Even though assessments of genetically modified food risk have not indicated any hazard on human health, xenobiotics-associated genetically modified food, such as pesticides residues and xenoproteins, could be harmful in the long-term. The "low-dose hypothesis", accumulation and biotransformation of pesticides-associated genetically modified food and the multiplied toxicity of pesticides-formulation adjuvants support this hypothesis. This review summarizes toxic effects (in vitro and on animal models) of some xenobiotics-associated genetically modified food, such as glyphosate and Cry1Ab protein, and extrapolates on their potential role in the pathophysiology of endometriosis. Their roles as immune toxicants, pro-oxidants, endocrine disruptors and epigenetic modulators are discussed. Copyright © 2010 Elsevier Masson SAS. All rights reserved.

  12. A link between altruism and sexual selection: genetic influence on altruistic behaviour and mate preference towards it.

    Science.gov (United States)

    Phillips, Tim; Ferguson, Eamonn; Rijsdijk, Fruhling

    2010-11-01

    Altruistic behaviour raises major questions for psychology and biology. One hypothesis proposes that human altruistic behaviour evolved as a result of sexual selection. Mechanisms that seek to explain how sexual selection works suggest genetic influence acting on both the mate preference for the trait and the preferred trait itself. We used a twin study to estimate whether genetic effects influenced responses to psychometric scales measuring mate preference towards altruistic traits (MPAT) and the preferred trait (i.e., 'altruistic personality'). As predicted, we found significant genetic effects influencing variation in both. We also predicted that individuals expressing stronger MPAT and 'altruistic personality' would have mated at a greater frequency in ancestral populations. We found evidence for this in that 67% of the covariance in the phenotypic correlation between the two scales was associated with significant genetic effects. Both sets of findings are thus consistent with the hypothesized link between sexual selection and human altruism towards non-kin. We discuss how this study contributes to our understanding of altruistic behaviour and how further work might extend this understanding.

  13. A UV-Induced Genetic Network Links the RSC Complex to Nucleotide Excision Repair and Shows Dose-Dependent Rewiring

    Directory of Open Access Journals (Sweden)

    Rohith Srivas

    2013-12-01

    Full Text Available Efficient repair of UV-induced DNA damage requires the precise coordination of nucleotide excision repair (NER with numerous other biological processes. To map this crosstalk, we generated a differential genetic interaction map centered on quantitative growth measurements of >45,000 double mutants before and after different doses of UV radiation. Integration of genetic data with physical interaction networks identified a global map of 89 UV-induced functional interactions among 62 protein complexes, including a number of links between the RSC complex and several NER factors. We show that RSC is recruited to both silenced and transcribed loci following UV damage where it facilitates efficient repair by promoting nucleosome remodeling. Finally, a comparison of the response to high versus low levels of UV shows that the degree of genetic rewiring correlates with dose of UV and reveals a network of dose-specific interactions. This study makes available a large resource of UV-induced interactions, and it illustrates a methodology for identifying dose-dependent interactions based on quantitative shifts in genetic networks.

  14. New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism

    DEFF Research Database (Denmark)

    Horikoshi, Momoko; Yaghootkar, Hanieh; Mook-Kanamori, Dennis O

    2013-01-01

    -wide significance to 7, accounting for a similar proportion of variance as maternal smoking. Five of the loci are known to be associated with other phenotypes: ADCY5 and CDKAL1 with type 2 diabetes, ADRB1 with adult blood pressure and HMGA2 and LCORL with adult height. Our findings highlight genetic links between...... diabetes and a second variant, near CCNL1, with no obvious link to adult traits. In an expanded genome-wide association meta-analysis and follow-up study of birth weight (of up to 69,308 individuals of European descent from 43 studies), we have now extended the number of loci associated at genome......Birth weight within the normal range is associated with a variety of adult-onset diseases, but the mechanisms behind these associations are poorly understood. Previous genome-wide association studies of birth weight identified a variant in the ADCY5 gene associated both with birth weight and type 2...

  15. Load balancing prediction method of cloud storage based on analytic hierarchy process and hybrid hierarchical genetic algorithm.

    Science.gov (United States)

    Zhou, Xiuze; Lin, Fan; Yang, Lvqing; Nie, Jing; Tan, Qian; Zeng, Wenhua; Zhang, Nian

    2016-01-01

    With the continuous expansion of the cloud computing platform scale and rapid growth of users and applications, how to efficiently use system resources to improve the overall performance of cloud computing has become a crucial issue. To address this issue, this paper proposes a method that uses an analytic hierarchy process group decision (AHPGD) to evaluate the load state of server nodes. Training was carried out by using a hybrid hierarchical genetic algorithm (HHGA) for optimizing a radial basis function neural network (RBFNN). The AHPGD makes the aggregative indicator of virtual machines in cloud, and become input parameters of predicted RBFNN. Also, this paper proposes a new dynamic load balancing scheduling algorithm combined with a weighted round-robin algorithm, which uses the predictive periodical load value of nodes based on AHPPGD and RBFNN optimized by HHGA, then calculates the corresponding weight values of nodes and makes constant updates. Meanwhile, it keeps the advantages and avoids the shortcomings of static weighted round-robin algorithm.

  16. Linking the spatial distribution of bed load transport to morphological change during high-flow events in a shallow braided river

    Science.gov (United States)

    Williams, R. D.; Rennie, C. D.; Brasington, J.; Hicks, D. M.; Vericat, D.

    2015-03-01

    This paper provides novel observations linking the connections between spatially distributed bed load transport pathways, hydraulic patterns, and morphological change in a shallow, gravel bed braided river. These observations shed light on the mechanics of braiding processes and illustrate the potential to quantify coupled material fluxes using remotely sensed methods. The paper focuses upon a 300 m long segment of the Rees River, New Zealand, and utilizes spatially dense observations from a mobile acoustic Doppler current profiler (aDcp) to map depth, velocity, and channel topography through a sequence of high-flow events. Apparent bed load velocity is estimated from the bias in aDcp bottom tracking and mapped to indicate bed load transport pathways. Terrestrial laser scanning (TLS) of exposed bar surfaces is fused with the aDcp surveys to generate spatially continuous digital elevation models, which quantify morphological change through the sequence of events. Results map spatially distributed bed load pathways that were likely to link zones of erosion and deposition. The coherence between the channel thalweg, zone of maximum hydraulic forcing, and maximum apparent bed load pathways varied. This suggests that, in places, local sediment supply sources exerted a strong control on the distribution of bed load, distinct from hydraulic forcing. The principal braiding mechanisms observed were channel choking, leading to subsequent bifurcation. Results show the connection between sediment sources, pathways, and sinks and their influence on channel morphology and flow path directions. The methodology of coupling spatially dense aDcp surveys with TLS has considerable potential to understand connections between processes and morphological change in dynamic fluvial settings.

  17. Innovation of genetic algorithm code GenA for WWER fuel loading optimization

    International Nuclear Information System (INIS)

    Sustek, J.

    2005-01-01

    One of the stochastic search techniques - genetic algorithms - was recently used for optimization of arrangement of fuel assemblies (FA) in core of reactors WWER-440 and WWER-1000. Basic algorithm was modified by incorporation of SPEA scheme. Both were enhanced and some results are presented (Authors)

  18. A genetic anomaly of oriented collagen biosynthesis and cross-linking: Keratoconus.

    Science.gov (United States)

    Bourges, J L; Robert, A M; Robert, L

    2015-02-01

    Oriented collagen biosynthesis is one of the major mechanisms involved in tissue and organ formation during development. Corneal biogenesis is one example. Defects in this process lead to anomalies in tissue structure and function. The transparency of cornea and its achievement are a good example as well as its pathological modifications. Keratoconus is one example of this type of pathologies, involving also inappropriate cross-linking of collagen fibers. Among the tentatives to correct this anomaly, the riboflavin-potentiated UV-cross-linking (CXL) of keratoconus corneas appears clinically satisfactory, although none of the experiments and clinical results published prove effective cross-linking. The published results are reviewed in this article. Copyright © 2014. Published by Elsevier SAS.

  19. Seed systems for African food security: linking molecular genetic analysis and cultivator knowledge in West Africa

    NARCIS (Netherlands)

    Richards, P.; Bruin-Hoekzema, de M.; Hughes, S.G.; Kudadjie, C.Y.; Offei, S.K.; Struik, P.C.

    2009-01-01

    A challenge for African countries is how to integrate new sources of knowledge on plant genetics with knowledge from farmer practice to help improve food security. This paper considers the knowledge content of farmer seed systems in the light of a distinction drawn in artificial intelligence

  20. Application genetic algorithms for load management in refrigerated warehouses with wind power penetration

    DEFF Research Database (Denmark)

    Zong, Yi; Cronin, Tom; Gehrke, Oliver

    2009-01-01

    Wind energy is produced at random times, whereas the energy consumption pattern shows distinct demand peaks during day-time and low levels during the night. The use of a refrigerated warehouse as a giant battery for wind energy is a new possibility that is being studied for wind energy integration...... as well as a way to store electricity produced during night-time by wind turbines. The controller for load management in a refrigerated warehouse with wind power penetration by GA-based is introduced in this paper. The objective function is to minimize the energy consumption for operating the refrigerated...... warehouse. It can be seen that the GA-based control strategy achieves feasible results for operating the temperature in refrigerated warehouse. Balancing the wind power production with refrigerated warehouse load management promises to be a clean and cost effective method. For refrigerated warehouse owners...

  1. Genetic studies and a search for molecular markers that are linked ...

    African Journals Online (AJOL)

    Molecular markers that are linked to witchweed resistance can expedite the development of resistant cultivars through adoption of appropriate markerassisted selection (MAS) strategies. The objectives of this investigation were to study the inheritance or low germination stimulant (lgs) production in cultivar SAR 29 and to ...

  2. Genetic risk scores link body fat distribution with specific cardiometabolic profiles

    DEFF Research Database (Denmark)

    Svendstrup, Mathilde; Sandholt, Camilla H; Andersson Galijatovic, Ehm Astrid

    2016-01-01

    OBJECTIVE: Forty-nine known single nucleotide polymorphisms (SNPs) associating with body mass index (BMI)-adjusted waist-hip-ratio (WHR) (WHRadjBMI) were recently suggested to cluster into three groups with different associations to cardiometabolic traits. Genetic risk scores of the clusters...... on the risk of incident diabetes and associations with detailed cardiometabolic phenotypes were tested. METHODS: In a prospective study of 6,121 Inter99 individuals, the risk of incident diabetes using Cox proportional hazards regression was evaluated. Using linear regession, the associations between genetic...... risk scores and anthropometry and blood samples at fasting and during an oral glucose tolerance test were tested. Analyses were adjusted for age, sex, and BMI. RESULTS: Cluster 1 associated with an increased risk of diabetes (HR = 1.05, P = 2.74 × 10(-) (4) ) and with a poor metabolic profile...

  3. Genetic link between family socioeconomic status and children's educational achievement estimated from genome-wide SNPs.

    Science.gov (United States)

    Krapohl, E; Plomin, R

    2016-03-01

    One of the best predictors of children's educational achievement is their family's socioeconomic status (SES), but the degree to which this association is genetically mediated remains unclear. For 3000 UK-representative unrelated children we found that genome-wide single-nucleotide polymorphisms could explain a third of the variance of scores on an age-16 UK national examination of educational achievement and half of the correlation between their scores and family SES. Moreover, genome-wide polygenic scores based on a previously published genome-wide association meta-analysis of total number of years in education accounted for ~3.0% variance in educational achievement and ~2.5% in family SES. This study provides the first molecular evidence for substantial genetic influence on differences in children's educational achievement and its association with family SES.

  4. Immunopathophysiology of inflammatory bowel disease: how genetics link barrier dysfunction and innate immunity to inflammation.

    Science.gov (United States)

    Mehta, Minesh; Ahmed, Shifat; Dryden, Gerald

    2017-08-01

    Inflammatory bowel diseases (IBD) comprise a distinct set of clinical symptoms resulting from chronic or relapsing immune activation and corresponding inflammation within the gastrointestinal (GI) tract. Diverse genetic mutations, encoding important aspects of innate immunity and mucosal homeostasis, combine with environmental triggers to create inappropriate, sustained inflammatory responses. Recently, significant advances have been made in understanding the interplay of the intestinal epithelium, mucosal immune system, and commensal bacteria as a foundation of the pathogenesis of inflammatory bowel disease. Complex interactions between specialized intestinal epithelial cells and mucosal immune cells determine different outcomes based on the environmental input: the development of tolerance in the presence of commensal bacterial or the promotion of inflammation upon recognition of pathogenic organisms. This article reviews key genetic abnormalities involved in inflammatory and homeostatic pathways that enhance susceptibility to immune dysregulation and combine with environmental triggers to trigger the development of chronic intestinal inflammation and IBD.

  5. Exploring the genetics underlying autoimmune diseases with network analysis and link prediction

    KAUST Repository

    Alanis Lobato, Gregorio

    2014-02-01

    Ever since the first Genome Wide Association Study (GWAS) was carried out we have seen an important number of discoveries of biological and clinical relevance. However, there are some scientists that consider that these research outcomes and their utility are far from what was expected from this experimental design. We instead believe that the thousands of genetic variants associated with complex disorders by means of GWASs are an extremely valuable source of information that needs to be mined in a different way. Based on this philosophy, we followed a holistic perspective to analyze GWAS data and explored the structural properties of the network representation of one of these datasets with the aim to advance our understanding of the genetic intricacies underlying autoimmune human diseases. The simplicity, computational efficiency and precision of the tools proposed in this paper represent a new means to address GWAS data and contribute to the better exploitation of these rich sources of information. © 2014 IEEE.

  6. Genetic, morphometric, and behavioral factors linked to the midsagittal area of the corpus callosum

    Directory of Open Access Journals (Sweden)

    Alex J Newbury

    2012-05-01

    Full Text Available TThe corpus callosum is the main commissure connecting left and right cerebral hemispheres, and varies widely in size. Differences in the midsagittal area of the corpus callosum (MSACC have been associated with a number of cognitive and behavioral phenotypes, including obsessive-compulsive disorders, psychopathy, suicidal tendencies, bipolar disorder, schizophrenia, autism, and attention deficit hyperactivity disorder. Although there is evidence to suggest that MSACC is heritable in normal human populations, there is surprisingly little evidence concerning the genetic modulation of this variation. Mice provide a potentially ideal tool to dissect the genetic modulation of MSACC. Here, we use a large genetic reference panel—the BXD recombinant inbred (RI line—to dissect the natural variation of the MSACC. We estimated the MSACC in over 300 individuals from nearly 80 strains. We found a 4-fold difference in MSACC between individual mice, and a 2.5 fold difference between strains. MSACC is a highly heritable trait (h2 = 0.60, and we mapped a suggestive QTL to the distal portion of Chr 14. Using sequence data and neocortical expression databases, we were able to identify eight positional and plausible biological candidate genes within this interval. Finally, we found that MSACC correlated with behavioral traits associated with anxiety and attention.

  7. Genetic localization and phenotypic expression of X-linked cataract (Xcat) in Mus musculus.

    Science.gov (United States)

    Favor, J; Pretsch, W

    1990-01-01

    Linkage data relative to the markers tabby and glucose-6-phosphate dehydrogenase are presented to locate X-linked cataract (Xcat) in the distal portion of the mouse X-chromosome between jimpy and hypophosphatemia. The human X-linked cataract-dental syndrome, Nance-Horan Syndrome, also maps closely to human hypophosphatemia and would suggest homology between mouse Xcat and human Nance-Horan Syndrome genes. In hemizygous males and homozygous females penetrance is complete with only slight variation in the degree of expression. Phenotypic expression in Xcat heterozygous females ranges from totally clear to totally opaque lenses. The phenotypic expression between the two lenses of a heterozygous individual could also vary between totally clear and totally opaque lenses. However, a correlation in the degree of expression between the eyes of an individual was observed. A variegated pattern of lens opacity was evident in female heterozygotes. Based on these observations, the site of gene action for the Xcat locus is suggested to be endogenous to the lens cells and the precursor cell population of the lens is concluded to be small. The identification of an X-linked cataract locus is an important contribution to the estimate of the number of mutable loci resulting in cataract, an estimate required so that dominant cataract mutagenesis results may be expressed on a per locus basis. The Xcat mutation may be a useful marker for a distal region of the mouse X-chromosome which is relatively sparsely marked and the X-linked cataract mutation may be employed in gene expression and lens development studies.

  8. Mycobacterium bovis in Burkina Faso: epidemiologic and genetic links between human and cattle isolates.

    Directory of Open Access Journals (Sweden)

    Adama Sanou

    2014-10-01

    Full Text Available In sub-Saharan Africa, bovine tuberculosis (bTB is a potential hazard for animals and humans health. The goal of this study was to improve our understanding of bTB epidemiology in Burkina Faso and especially Mycobacterium bovis transmission within and between the bovine and human populations.Twenty six M. bovis strains were isolated from 101 cattle carcasses with suspected bTB lesions during routine meat inspections at the Bobo Dioulasso and Ouagadougou slaughterhouses. In addition, 7 M. bovis strains were isolated from 576 patients with pulmonary tuberculosis. Spoligotyping, RDAf1 deletion and MIRU-VNTR typing were used for strains genotyping. The isolation of M. bovis strains was confirmed by spoligotyping and 12 spoligotype signatures were detected. Together, the spoligotyping and MIRU-VNTR data allowed grouping the 33 M. bovis isolates in seven clusters including isolates exclusively from cattle (5 or humans (1 or from both (1. Moreover, these data (genetic analyses and phenetic tree showed that the M. bovis isolates belonged to the African 1 (Af1 clonal complex (81.8% and the putative African 5 (Af5 clonal complex (18.2%, in agreement with the results of RDAf1 deletion typing.This is the first detailed molecular characterization of M. bovis strains from humans and cattle in Burkina Faso. The distribution of the two Af1 and putative Af5 clonal complexes is comparable to what has been reported in neighbouring countries. Furthermore, the strain genetic profiles suggest that M. bovis circulates across the borders and that the Burkina Faso strains originate from different countries, but have a country-specific evolution. The genetic characterization suggests that, currently, M. bovis transmission occurs mainly between cattle, occasionally between cattle and humans and potentially between humans. This study emphasizes the bTB risk in cattle but also in humans and the difficulty to set up proper disease control strategies in Burkina Faso.

  9. Mycobacterium bovis in Burkina Faso: epidemiologic and genetic links between human and cattle isolates.

    Science.gov (United States)

    Sanou, Adama; Tarnagda, Zekiba; Kanyala, Estelle; Zingué, Dezemon; Nouctara, Moumini; Ganamé, Zakaria; Combary, Adjima; Hien, Hervé; Dembele, Mathurin; Kabore, Antoinette; Meda, Nicolas; Van de Perre, Philippe; Neveu, Dorine; Bañuls, Anne Laure; Godreuil, Sylvain

    2014-10-01

    In sub-Saharan Africa, bovine tuberculosis (bTB) is a potential hazard for animals and humans health. The goal of this study was to improve our understanding of bTB epidemiology in Burkina Faso and especially Mycobacterium bovis transmission within and between the bovine and human populations. Twenty six M. bovis strains were isolated from 101 cattle carcasses with suspected bTB lesions during routine meat inspections at the Bobo Dioulasso and Ouagadougou slaughterhouses. In addition, 7 M. bovis strains were isolated from 576 patients with pulmonary tuberculosis. Spoligotyping, RDAf1 deletion and MIRU-VNTR typing were used for strains genotyping. The isolation of M. bovis strains was confirmed by spoligotyping and 12 spoligotype signatures were detected. Together, the spoligotyping and MIRU-VNTR data allowed grouping the 33 M. bovis isolates in seven clusters including isolates exclusively from cattle (5) or humans (1) or from both (1). Moreover, these data (genetic analyses and phenetic tree) showed that the M. bovis isolates belonged to the African 1 (Af1) clonal complex (81.8%) and the putative African 5 (Af5) clonal complex (18.2%), in agreement with the results of RDAf1 deletion typing. This is the first detailed molecular characterization of M. bovis strains from humans and cattle in Burkina Faso. The distribution of the two Af1 and putative Af5 clonal complexes is comparable to what has been reported in neighbouring countries. Furthermore, the strain genetic profiles suggest that M. bovis circulates across the borders and that the Burkina Faso strains originate from different countries, but have a country-specific evolution. The genetic characterization suggests that, currently, M. bovis transmission occurs mainly between cattle, occasionally between cattle and humans and potentially between humans. This study emphasizes the bTB risk in cattle but also in humans and the difficulty to set up proper disease control strategies in Burkina Faso.

  10. Linking individual migratory behaviour of Atlantic salmon to their genetic origin

    DEFF Research Database (Denmark)

    Jepsen, Niels; Eg Nielsen, Einar; Deacon, M.

    2005-01-01

    (fin clip) from each tagged salmon was analysed using microsatellite DNA analysis of 6 loci. Assignment tests were used to infer the population of origin. The results showed that the salmon run was composed of approximately 1/3 “native fish”, 1/3 foreign stocked fish and 1/3 escaped farmed salmon....... The results indicate that stocked, foreign salmon had a slightly higher mortality and moved more up and down in the river than the native salmon did, but all salmon had problems passing the physical obstructions in the river. The DNA analyses enabled us to compare the behaviour of fish of different genetic...

  11. Genetic and environmental links between cognitive and physical functions in old age

    DEFF Research Database (Denmark)

    Johnson, Wendy; Deary, Ian J; McGue, Matt

    2009-01-01

    In old age, cognitive and physical functions are correlated. Knowing the correlations between genetic and environmental influences underlying this correlation can help to clarify the reasons for the observable (phenotypic) correlation. We estimated these correlations in a sample of 1,053 pairs...... of twins from the Longitudinal Study of Aging Danish Twins. Cognitive function was measured using forward and backward digit span, immediate and delayed memory, and fluency tasks. Physical function was measured using self-report of ability to carry out physical activities including walking, running...

  12. Review of revised Klamath River Total Maximum Daily Load models from Link River Dam to Keno Dam, Oregon

    Science.gov (United States)

    Rounds, Stewart A.; Sullivan, Annett B.

    2013-01-01

    Flow and water-quality models are being used to support the development of Total Maximum Daily Load (TMDL) plans for the Klamath River downstream of Upper Klamath Lake (UKL) in south-central Oregon. For riverine reaches, the RMA-2 and RMA-11 models were used, whereas the CE-QUAL-W2 model was used to simulate pooled reaches. The U.S. Geological Survey (USGS) was asked to review the most upstream of these models, from Link River Dam at the outlet of UKL downstream through the first pooled reach of the Klamath River from Lake Ewauna to Keno Dam. Previous versions of these models were reviewed in 2009 by USGS. Since that time, important revisions were made to correct several problems and address other issues. This review documents an assessment of the revised models, with emphasis on the model revisions and any remaining issues. The primary focus of this review is the 19.7-mile Lake Ewauna to Keno Dam reach of the Klamath River that was simulated with the CE-QUAL-W2 model. Water spends far more time in the Lake Ewauna to Keno Dam reach than in the 1-mile Link River reach that connects UKL to the Klamath River, and most of the critical reactions affecting water quality upstream of Keno Dam occur in that pooled reach. This model review includes assessments of years 2000 and 2002 current conditions scenarios, which were used to calibrate the model, as well as a natural conditions scenario that was used as the reference condition for the TMDL and was based on the 2000 flow conditions. The natural conditions scenario included the removal of Keno Dam, restoration of the Keno reef (a shallow spot that was removed when the dam was built), removal of all point-source inputs, and derivation of upstream boundary water-quality inputs from a previously developed UKL TMDL model. This review examined the details of the models, including model algorithms, parameter values, and boundary conditions; the review did not assess the draft Klamath River TMDL or the TMDL allocations

  13. Genetic Load of Loss-of-Function Polymorphic Variants in Great Apes.

    Science.gov (United States)

    de Valles-Ibáñez, Guillem; Hernandez-Rodriguez, Jessica; Prado-Martinez, Javier; Luisi, Pierre; Marquès-Bonet, Tomàs; Casals, Ferran

    2016-03-26

    Loss of function (LoF) genetic variants are predicted to disrupt gene function, and are therefore expected to substantially reduce individual's viability. Knowing the genetic burden of LoF variants in endangered species is of interest for a better understanding of the effects of declining population sizes on species viability. In this study, we have estimated the number of LoF polymorphic variants in six great ape populations, based on whole-genome sequencing data in 79 individuals. Our results show that although the number of functional variants per individual is conditioned by the effective population size, the number of variants with a drastic phenotypic effect is very similar across species. We hypothesize that for those variants with high selection coefficients, differences in effective population size are not important enough to affect the efficiency of natural selection to remove them. We also describe that mostly CpG LoF mutations are shared across species, and an accumulation of LoF variants at olfactory receptor genes in agreement with its pseudogenization in humans and other primate species. © The Author 2016. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution.

  14. Genetic moderators and psychiatric mediators of the link between sexual abuse and alcohol dependence.

    Science.gov (United States)

    Copeland, William E; Magnusson, Asa; Göransson, Mona; Heilig, Markus A

    2011-06-01

    This study used a case-control female sample to test psychiatric mediators and genetic moderators of the effect of sexual abuse on later alcohol dependence. The study also tested differences between alcohol dependent women with or without a history of sexual abuse on variables that might affect treatment planning. A case-control design compared 192 treatment-seeking alcohol dependent women with 177 healthy population controls. All participants were assessed for alcohol-related behaviors, sexual abuse history, psychiatric problems, and personality functioning. Markers were genotyped in the CRHR1, MAO-A and OPRM1 genes. The association of sexual abuse with alcohol dependence was limited to the most severe category of sexual abuse involving anal or vaginal penetration. Of the five psychiatric disorders tested, anxiety, anorexia nervosa, and bulimia met criteria as potential mediators of the abuse-alcohol dependence association. Severe sexual abuse continued to have an independent effect on alcohol dependence status even after accounting for these potential mediators. None of the candidate genetic markers moderated the association between sexual abuse and alcohol dependence. Of alcohol dependent participants, those with a history of severe abuse rated higher on alcoholism severity, and psychiatric comorbidities. Sexual abuse is associated with later alcohol problems directly as well as through its effect on psychiatric problems. Treatment-seeking alcohol dependent women with a history of abuse have distinct features as compared to other alcohol dependent women. Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.

  15. Resistance gene homologues in melon are linked to genetic loci conferring disease and pest resistance.

    Science.gov (United States)

    Brotman, Y.; Silberstein, L.; Kovalski, I.; Perin, C.; Dogimont, C.; Pitrat, M.; Klingler, J.; Thompson, A.; Perl-Treves, R.

    2002-05-01

    Genomic and cDNA fragments with homology to known disease resistance genes (RGH fragments) were cloned from Cucumis melo using degenerate-primer PCR. Fifteen homologues of the NBS-LRR gene family have been isolated. The NBS-LRR homologues show high divergence and, based on the partial NBS-fragment sequences, appear to include members of the two major subfamilies that have been described in dicot plants, one that possesses a TIR-protein element and one that lacks such a domain. Genomic organization of these sequences was explored by DNA gel-blot analysis, and conservation among other Cucurbitaceae was assessed. Two mapping populations that segregate for several disease and pest resistance loci were used to map the RGH probes onto the melon genetic map. Several NBS-LRR related sequences mapped to the vicinity of genetic loci that control resistance to papaya ringspot virus, Fusarium oxysporum race 1, F. oxysporum race 2 and to the insect pest Aphis gossypii. The utility of such markers for breeding resistant melon cultivars and for cloning the respective R-genes is discussed.

  16. Molecular genetic analysis of X-linked hypogammaglobulinemia and isolated growth hormone deficiency

    Energy Technology Data Exchange (ETDEWEB)

    Stewart, D.M.; Kurman, C.C.; Staudt, L.M. [Univ. of Brescia (Italy)] [and others

    1995-09-01

    In 1980 the clinical syndrome of X-linked hypogammaglobulinemia and isolated growth hormone deficiency (XLA/GHD) was described. XLA/GHD patients have reduced serum levels of Ig and normal cell-mediated immunity, and thus resemble patients with Bruton`s X-linked agammaglobulinemia (XLA). However, XLA/GHD patients also have isolated GHD. Mutations and deletions in the Bruton`s tyrosine kinase gene (BTK) are responsible for Bruton`s XLA. We investigated BTK gene expression in an XLA/GHD patient from the family originally described by Northern analysis, cDNA sequencing, and Western analysis of protein production using mAb to BTK. BTK mRNA was normal in size and abundance, and the mRNA sequence was normal over the coding region, except for a single silent mutation. BTK protein was present in normal amounts in PBMC of this patient. Thus, at the molecular level, XLA/GHD is a different disease entity from Bruton`s XLA. These results suggest that undescribed genes critical for B cell development and growth hormone production exist on the X chromosome. 17 refs., 4 figs.

  17. Genetic analysis of a kindred with X-linked mental handicap and retinitis pigmentosa

    Energy Technology Data Exchange (ETDEWEB)

    Aldred, M.A.; Dry, K.L.; Hardwick, L.J.; Teague, P.W.; Lester, D.H.; Brown, J.; Spowart, G.; Carothers, A.D.; Wright, A.F. [Western General Hospital, Edinburgh, Scotland (United Kingdom); Knight-Jones, E.B. [Univ. of Nottingham (United Kingdom)] [and others

    1994-11-01

    A kindred is described in which X-linked nonspecific mental handicap segregates together with retinitis pigmentosa. Carrier females are mentally normal but may show signs of the X-linked retinitis pigmentosa carrier state and become symptomatic in their later years. Analysis of polymorphic DNA markers at nine loci on the short arm of the X chromosome shows that no crossing-over occurs between the disease and Xp11 markers DXS255, TIMP, DXS426, MAOA, and DXS228. The 90% confidence limits show that the locus is in the Xp21-q21 region. Haplotype analysis is consistent with the causal gene being located proximal to the Xp21 loci DXS538 and 5{prime}-dystrophin on the short arm of the X chromosome. The posterior probability of linkage to the RP2 region of the X chromosome short arm (Xp11.4-p11.23) is .727, suggesting the possibility of a contiguous-gene-deletion syndrome. No cytogenetic abnormality has been identified. 33 refs., 2 figs., 2 tabs.

  18. Genetic loci associated with renal function measures and chronic kidney disease in children: the Pediatric Investigation for Genetic Factors Linked with Renal Progression Consortium.

    Science.gov (United States)

    Wuttke, Matthias; Wong, Craig S; Wühl, Elke; Epting, Daniel; Luo, Li; Hoppmann, Anselm; Doyon, Anke; Li, Yong; Sözeri, Betül; Thurn, Daniela; Helmstädter, Martin; Huber, Tobias B; Blydt-Hansen, Tom D; Kramer-Zucker, Albrecht; Mehls, Otto; Melk, Anette; Querfeld, Uwe; Furth, Susan L; Warady, Bradley A; Schaefer, Franz; Köttgen, Anna

    2016-02-01

    Chronic kidney disease (CKD) in children is characterized by rapid progression and a high incidence of end-stage renal disease and therefore constitutes an important health problem. While unbiased genetic screens have identified common risk variants influencing renal function and CKD in adults, the presence and identity of such variants in pediatric CKD are unknown. The international Pediatric Investigation for Genetic Factors Linked with Renal Progression (PediGFR) Consortium comprises three pediatric CKD cohorts: Chronic Kidney Disease in Children (CKiD), Effect of Strict Blood Pressure Control and ACE Inhibition on the Progression of CRF in Pediatric Patients (ESCAPE) and Cardiovascular Comorbidity in Children with CKD (4C). Clean genotype data from > 10 million genotyped or imputed single-nucleotide polymorphisms (SNPs) were available for 1136 patients with measurements of serum creatinine at study enrollment. Genome-wide association studies were conducted to relate the SNPs to creatinine-based estimated glomerular filtration rate (eGFR crea) and proteinuria (urinary albumin- or protein-to-creatinine ratio ≥ 300 and ≥ 500 mg/g, respectively). In addition, European-ancestry PediGFR patients (cases) were compared with 1347 European-ancestry children without kidney disease (controls) to identify genetic variants associated with the presence of CKD. SNPs with suggestive association P-values children with CKD. Our findings suggest that larger collaborative efforts will be needed to draw reliable conclusions about the presence and identity of common variants associated with eGFR, proteinuria and CKD in pediatric populations. © The Author 2015. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved.

  19. Pupil Dilation and EEG Alpha Frequency Band Power Reveal Load on Executive Functions for Link-Selection Processes during Text Reading.

    Directory of Open Access Journals (Sweden)

    Christian Scharinger

    Full Text Available Executive working memory functions play a central role in reading comprehension. In the present research we were interested in additional load imposed on executive functions by link-selection processes during computer-based reading. For obtaining process measures, we used a methodology of concurrent electroencephalographic (EEG and eye-tracking data recording that allowed us to compare epochs of pure text reading with epochs of hyperlink-like selection processes in an online reading situation. Furthermore, this methodology allowed us to directly compare the two physiological load-measures EEG alpha frequency band power and pupil dilation. We observed increased load on executive functions during hyperlink-like selection processes on both measures in terms of decreased alpha frequency band power and increased pupil dilation. Surprisingly however, the two measures did not correlate. Two additional experiments were conducted that excluded potential perceptual, motor, or structural confounds. In sum, EEG alpha frequency band power and pupil dilation both turned out to be sensitive measures for increased load during hyperlink-like selection processes in online text reading.

  20. Genetic and environmental transactions linking cognitive ability, physical fitness, and education in late life

    DEFF Research Database (Denmark)

    Johnson, Wendy; Deary, Ian J; McGue, Matt

    2009-01-01

    Cognitive ability and physical fitness are important to the ability to live independently in late life. Both are also related to level of attained education, with better educated older adults tending to display better cognitive ability and better late-life physical health. Chronic illnesses...... that affect both physical and cognitive function, lifetime cognitive ability that facilitates healthy lifestyle choices, and general biological aging processes have been offered as 3 explanations for the late-life physical-cognitive correlation. Education is generally assumed to provide a protective...... environment. The authors used a sample of 1,053 twin pairs aged 70 and over and gene-environment moderation models to explore 5 hypotheses that could help to disentangle the genetic and environmental transactions involving physical and cognitive functions and education. Results provide some support for all 3...

  1. Genetic evidence links invasive monk parakeet populations in the United States to the international pet trade

    Directory of Open Access Journals (Sweden)

    Avery Michael L

    2008-07-01

    Full Text Available Abstract Background Severe ecological and economic impacts caused by some invasive species make it imperative to understand the attributes that permit them to spread. A notorious crop pest across its native range in South America, the monk parakeet (Myiopsitta monachus has become established on four other continents, including growing populations in the United States. As a critical first step to studying mechanisms of invasion success in this species, here we elucidated the geographical and taxonomic history of the North American invasions of the monk parakeet. Specifically, we conducted a genetic assessment of current monk parakeet taxonomy based on mitochondrial DNA control region sequences from 73 museum specimens. These data supported comparative analyses of mtDNA lineage diversity in the native and naturalized ranges of the monk parakeet and allowed for identification of putative source populations. Results There was no molecular character support for the M. m. calita, M. m. cotorra, and M. m. monachus subspecies, while the Bolivian M. m. luchsi was monophyletic and diagnosably distinct. Three haplotypes sampled in the native range were detected within invasive populations in Florida, Connecticut, New Jersey and Rhode Island, the two most common of which were unique to M. m. monachus samples from eastern Argentina and bordering areas in Brazil and Uruguay. Conclusion The lack of discrete morphological character differences in tandem with the results presented here suggest that M. m. calita, M. m. cotorra and M. m. monachus are in need of formal taxonomic revision. The genetic distinctiveness of M. m. luchsi is consistent with previous recommendations of allospecies status for this taxon. The geographic origins of haplotypes sampled in the four U.S. populations are concordant with trapping records from the mid-20th century and suggest that propagule pressure exerted by the international pet bird trade contributed to the establishment of

  2. Physiologic and genetic evidence links hemopexin to triglycerides in mice and humans.

    Science.gov (United States)

    Lawson, H A; Zayed, M; Wayhart, J P; Fabbrini, E; Love-Gregory, L; Klein, S; Semenkovich, C F

    2017-04-01

    Elevated triglycerides predict insulin resistance and vascular disease in obesity, but how the inert triglyceride molecule is related to development of metabolic disease is unknown. To pursue novel potential mediators of triglyceride-associated metabolic disease, we used a forward genetics approach involving inbred mice and translated our findings to human subjects. Hemopexin (HPX) was identified as a differentially expressed gene within a quantitative trait locus associated with serum triglycerides in an F 16 advanced intercross between the LG/J and SM/J strains of mice. Hpx expression was evaluated in both the reproductive fat pads and livers of mice representing three strains, LG/J (n=25), SM/J (n=27) and C57Bl/6J (n=19), on high- and low-fat diets. The effect of altered Hpx expression on adipogenesis was studied in 3T3-L1 cells. Circulating HPX protein along with HPX expression were characterized in subcutaneous white adipose tissue samples obtained from a cohort of metabolically abnormal (n=18) and of metabolically normal (n=24) obese human subjects. We further examined the relationship between HPX and triglycerides in human atherosclerotic plaques (n=18). HPX expression in mouse adipose tissue, but not in liver, was regulated by dietary fat regardless of genetic background. HPX increased in concert with adipogenesis in 3T3-L1 cells, and disruption of its expression impaired adipocyte differentiation. RNAseq data from the adipose tissue of obese humans showed differential expression of HPX based on metabolic disease status (Ptriglycerides in these subjects (r=0.33; P=0.03). HPX was also found in an unbiased proteomic screen of human atherosclerotic plaques and shown to display differential abundance based on the extent of disease and triglyceride content (Ptriglycerides and provide a framework for understanding mechanisms underlying lipid metabolism and metabolic disease.

  3. Recurrent X chromosome-linked deletions: discovery of new genetic factors in male infertility.

    Science.gov (United States)

    Lo Giacco, D; Chianese, C; Ars, E; Ruiz-Castañé, E; Forti, G; Krausz, C

    2014-05-01

    The role of X-linked genes and copy-number variations (CNVs) in male infertility remains poorly explored. Our previous array-CGH analyses showed three recurrent deletions in Xq exclusively (CNV67) and prevalently (CNV64, CNV69) found in patients. Molecular and clinical characterisation of these CNVs was performed in this study. 627 idiopathic infertile patients and 628 controls were tested for each deletion with PCR+/-. We used PCR+/- to map deletion junctions and long-range PCR and direct sequencing to define breakpoints. CNV64 was found in 5.7% of patients and in 3.1% of controls (p=0.013; OR=1.89; 95% CI 1.1 to 3.3) and CNV69 was found in 3.5% of patients and 1.6% of controls (p=0.023; OR=2.204; 95% CI 1.05 to 4.62). For CNV69 we identified two breakpoints, types A and B, with the latter being significantly more frequent in patients than controls (p=0.011; OR=9.19; 95% CI 1.16 to 72.8). CNV67 was detected exclusively in patients (1.1%) and was maternally transmitted. The semen phenotype of one carrier (11-041) versus his normozoospermic non-carrier brother strongly indicates a pathogenic effect of the deletion on spermatogenesis. MAGEA9, an ampliconic gene reported as independently acquired on the human X chromosome with exclusive physiological expression in the testis, is likely to be involved in CNV67. We provide the first evidence for X chromosome-linked recurrent deletions associated with spermatogenic impairment. CNV67, specific to spermatogenic anomaly and with a frequency of 1.1% in oligo/azoospermic men, resembles the AZF regions on the Y chromosome with potential clinical implications.

  4. Linking the environmental loads to the fate of PPCPs in Beijing: Considering both the treated and untreated wastewater sources.

    Science.gov (United States)

    Wang, Bin; Dai, Guohua; Deng, Shubo; Huang, Jun; Wang, Yujue; Yu, Gang

    2015-07-01

    The environmental loads of pharmaceutical and personal care products (PPCPs) in Beijing were estimated from direct discharge of untreated wastewater and WWTP treated effluent. The annual environmental loads of 15 PPCP components ranged from 16.3 kg (propranolol) to 9.85 tons (caffeine). A fugacity model was developed to successfully estimate the PPCP pollution based on the estimated environmental load. The modeled results approximated the observed PPCP concentrations in Beijing. The untreated wastewater contributed significantly to PPCP pollution in Beijing, ranging from 46% (propranolol) to 99% (caffeine). The total environmental burden of target PPCPs ranged from 0.90 kg (propranolol) to 536 kg (caffeine). Water is the most important media for the fate of PPCPs. Monte Carlo-based concentration distributions of PPCPs are consistent with the observed results. The most important way to reduce the PPCP pollution is to both improve wastewater collection rate and adopt deep treatment technologies. Copyright © 2015 Elsevier Ltd. All rights reserved.

  5. Exploring the bio-behavioural link between stress, allostatic load & micronutrient status: A cross-sectional study among adolescent boys

    Directory of Open Access Journals (Sweden)

    Little Flower Augustine

    2016-01-01

    Interpretation & conclusions: Build-up of AL was found in adolescent boys and was positively associated with life event stress. Iron nutrition and stress exhibited a positive association through hepcidin. The study provides a link between iron nutrition, physiological deregulation and stress.

  6. Sex-linked dominant

    Science.gov (United States)

    Inheritance - sex-linked dominant; Genetics - sex-linked dominant; X-linked dominant; Y-linked dominant ... can be either an autosomal chromosome or a sex chromosome. It also depends on whether the trait ...

  7. Optimal shape control of piezolaminated beams with different boundary condition and loading using genetic algorithm

    Science.gov (United States)

    Bendine, Kouider; Wankhade, Rajan L.

    2017-12-01

    Piezoelectric actuators are effectively used to control the response of light weight structures in shape, vibration and buckling. Optimization for the shape control of piezoelectric beam is the recent challenge which requires proper numerical technique to perform. The shape control of a composite beam using surface-bounded piezoelectric actuators has been investigated in the present work. The mathematical model is developed using two-node Timoshenko beam element coupling with the theory of linear piezoelectricity. First-order shear deformation theory is employed in the formulation to consider the effect of shear. In the analysis, the effect of the actuators position for different set of boundary conditions is investigated. For different boundary conditions which include clamped-free-, clamped-clamped- and simply supported beam, optimisation of piezoelectric patch location is investigated. Moreover, a genetic algorithm is adopted and implemented to optimize the required voltage to maintain the desired shape of the beam. This optimization technique is applied to different cases of composite beams with varying the boundary condition.

  8. Linking tree genetics and stream consumers: Isotopic tracers elucidate controls on carbon and nitrogen assimilation.

    Science.gov (United States)

    Compson, Zacchaeus G; Hungate, Bruce A; Whitham, Thomas G; Koch, George W; Dijkstra, Paul; Siders, Adam C; Wojtowicz, Todd; Jacobs, Ryan; Rakestraw, David N; Allred, Kiel E; Sayer, Chelsea K; Marks, Jane C

    2018-03-30

    Leaf litter provides an important nutrient subsidy to headwater streams, but little is known about how tree genetics influences energy pathways from litter to higher trophic levels. Despite the charge to quantify carbon (C) and nitrogen (N) pathways from decomposing litter, the relationship between litter decomposition and aquatic consumers remains unresolved. We measured litter preference (attachments to litter), C and N assimilation rates, and growth rates of a shredding caddisfly (Hesperophylax magnus, Limnephilidae) in response to leaf litter of different chemical and physical phenotypes using Populus cross types (P. fremontii, P. angustifolia, and F 1 hybrids) and genotypes within P. angustifolia. We combined laboratory mesocosm studies using litter from a common garden with a field study using doubly labeled litter ( 13 C and 15 N) grown in a greenhouse and incubated in Oak Creek, AZ. We found that, in the lab, shredders initially chose relatively labile (low lignin and condensed tannin concentrations, rapidly decomposing) cross type litter, but preference changed within four days to relatively recalcitrant (high lignin and condensed tannin concentrations, slowly decomposing) litter types. Additionally, in the lab, shredder growth rates were higher on relatively recalcitrant compared to labile cross type litter. Over the course of a three-week field experiment, shredders also assimilated more C and N from relatively recalcitrant compared to labile cross type litter. Finally, among P. angustifolia genotypes, N assimilation by shredders was positively related to litter lignin and C:N, but negatively related to condensed tannins and decomposition rate. C assimilation was likewise positively related to litter C:N, and also to litter %N. C assimilation was not associated with condensed tannins or lignin. Collectively, these findings suggest that relatively recalcitrant litter of Populus cross types provides more nutritional benefit, in terms of N fluxes and growth

  9. Genetic and environmental transactions linking cognitive ability, physical fitness, and education in late life.

    Science.gov (United States)

    Johnson, Wendy; Deary, Ian J; McGue, Matt; Christensen, Kaare

    2009-03-01

    Cognitive ability and physical fitness are important to the ability to live independently in late life. Both are also related to level of attained education, with better educated older adults tending to display better cognitive ability and better late-life physical health. Chronic illnesses that affect both physical and cognitive function, lifetime cognitive ability that facilitates healthy lifestyle choices, and general biological aging processes have been offered as 3 explanations for the late-life physical-cognitive correlation. Education is generally assumed to provide a protective environment. The authors used a sample of 1,053 twin pairs aged 70 and over and gene-environment moderation models to explore 5 hypotheses that could help to disentangle the genetic and environmental transactions involving physical and cognitive functions and education. Results provide some support for all 3 explanations for the physical-cognitive correlation and indicate the ways in which better education may support better function and lack of education may undermine it.

  10. Linking a genetic defect in migraine to spreading depression in a computational model

    Directory of Open Access Journals (Sweden)

    Markus A. Dahlem

    2014-05-01

    Full Text Available Familial hemiplegic migraine (FHM is a rare subtype of migraine with aura. A mutation causing FHM type 3 (FHM3 has been identified in SCN1A encoding the Nav1.1 Na+ channel. This genetic defect affects the inactivation gate. While the Na+ tail currents following voltage steps are consistent with both hyperexcitability and hypoexcitability, in this computational study, we investigate functional consequences beyond these isolated events. Our extended Hodgkin–Huxley framework establishes a connection between genotype and cellular phenotype, i.e., the pathophysiological dynamics that spans over multiple time scales and is relevant to migraine with aura. In particular, we investigate the dynamical repertoire from normal spiking (milliseconds to spreading depression and anoxic depolarization (tens of seconds and show that FHM3 mutations render gray matter tissue more vulnerable to spreading depression despite opposing effects associated with action potential generation. We conclude that the classification in terms of hypoexcitability vs. hyperexcitability is too simple a scheme. Our mathematical analysis provides further basic insight into also previously discussed criticisms against this scheme based on psychophysical and clinical data.

  11. Antibiotic and antiseptic resistance genes are linked on a novel mobile genetic element: Tn6087

    Science.gov (United States)

    Ciric, Lena; Mullany, Peter; Roberts, Adam P.

    2011-01-01

    Objectives Tn916-like elements are one of the most common types of integrative and conjugative element (ICE). In this study we aimed to determine whether novel accessory genes, i.e. genes whose products are not involved in mobility or regulation, were present on a Tn916-like element (Tn6087) isolated from Streptococcus oralis from the human oral cavity. Methods A minocycline-resistant isolate was analysed using restriction fragment length polymorphism (RFLP) analysis on amplicons derived from Tn916 and DNA sequencing to determine whether there were genetic differences in Tn6087 compared with Tn916. Mutational analysis was used to determine whether the novel accessory gene found was responsible for an observed extra phenotype. Results A novel Tn916-like element, Tn6087, is described that encodes both antibiotic and antiseptic resistance. The antiseptic resistance protein is encoded by a novel small multidrug resistance gene, designated qrg, that was shown to encode resistance to cetyltrimethylammonium bromide (CTAB), also known as cetrimide bromide. Conclusions This is the first Tn916-like element described that confers both antibiotic and antiseptic resistance, suggesting that selection of either antibiotic or antiseptic resistance will also select for the other and further highlights the need for prudent use of both types of compound. PMID:21816764

  12. Multiple sulfur isotopic composition of main group pallasites support genetic links to IIIAB iron meteorites

    Science.gov (United States)

    Dottin, James W.; Farquhar, James; Labidi, Jabrane

    2018-03-01

    This study reports the quadruple sulfur isotope composition of troilite nodules from Main Group Pallasites. Values range from -0.23‰ to 0.34‰ (average = 0.03 ± 0.17‰ S.D.) in δ34S and 0.008‰ to 0.025‰ (average = 0.018 ± 0.006‰ S.D.) in Δ33S and -0.38 to -0.01 (average = -0.17 ± 0.11‰ S.D.) in Δ36S. The variance of these analyses is comparable to estimates of analytical uncertainty (±0.3‰, ±0.008‰, and ±0.3‰, for δ34S, Δ33S, and Δ36S, respectively) and the average of these values is taken as a constraint on the composition of sulfur in the MG Pallasite parent body. The different Δ33S value compared to CDT and IAB iron meteorites at a similar δ34S value is interpreted as a mass-independent signature. This signature is similar in magnitude and direction to previously published values observed in IIIAB iron meteorites, further supporting a genetic relationship between the two groups of meteorites.

  13. A Behavioral Genetic Model of the Mechanisms Underlying the Link Between Obesity and Symptoms of ADHD.

    Science.gov (United States)

    Patte, Karen A; Davis, Caroline A; Levitan, Robert D; Kaplan, Allan S; Carter-Major, Jacqueline; Kennedy, James L

    2016-01-21

    The ADHD-obesity link has been suggested to result from a shared underlying basis of suboptimal dopamine (DA); however, this theory conflicts evidence that an amplified DA signal increases the risk for overeating and weight gain. A model was tested in which ADHD symptoms, predicted by hypodopaminergic functioning in the prefrontal cortex, in combination with an enhanced appetitive drive, predict hedonic eating and, in turn, higher body mass index (BMI). DRD2 and DRD4 markers were genotyped. The model was tested using structural equation modeling in a nonclinical sample (N = 421 adults). The model was a good fit to the data. Controlling for education, all parameter estimates were significant, except for the DRD4-ADHD symptom pathway. The significant indirect effect indicates that overeating mediated the ADHD symptoms-BMI association. Results support the hypothesis that overeating and elevated DA in the ventral striatum-representative of a greater reward response-contribute to the ADHD symptom-obesity relationship. © The Author(s) 2016.

  14. Generation of a monoclonal antibody against the glycosylphosphatidylinositol-linked protein Rae-1 using genetically engineered tumor cells.

    Science.gov (United States)

    Hu, Jiemiao; Vien, Long T; Xia, Xueqing; Bover, Laura; Li, Shulin

    2014-02-04

    Although genetically engineered cells have been used to generate monoclonal antibodies (mAbs) against numerous proteins, no study has used them to generate mAbs against glycosylphosphatidylinositol (GPI)-anchored proteins. The GPI-linked protein Rae-1, an NKG2D ligand member, is responsible for interacting with immune surveillance cells. However, very few high-quality mAbs against Rae-1 are available for use in multiple analyses, including Western blotting, immunohistochemistry, and flow cytometry. The lack of high-quality mAbs limits the in-depth analysis of Rae-1 fate, such as shedding and internalization, in murine models. Moreover, currently available screening approaches for identifying high-quality mAbs are excessively time-consuming and costly. We used Rae-1-overexpressing CT26 tumor cells to generate 60 hybridomas that secreted mAbs against Rae-1. We also developed a streamlined screening strategy for selecting the best anti-Rae-1 mAb for use in flow cytometry assay, enzyme-linked immunosorbent assay, Western blotting, and immunostaining. Our cell line-based immunization approach can yield mAbs against GPI-anchored proteins, and our streamlined screening strategy can be used to select the ideal hybridoma for producing such mAbs.

  15. Resistance to impact of cross-linked denture base biopolymer materials: effect of relining, glass flakes reinforcement and cyclic loading.

    Science.gov (United States)

    da Cruz Perez, Luciano Elias; Lucia Machado, Ana; Eduardo Vergani, Carlos; Andrade Zamperini, Camila; Cláudia Pavarina, Ana; Vicente Canevarolo, Sebastião

    2014-09-01

    The effect of reinforcement and cyclic loading on the resistance to impact (RI) of denture base biopolymer materials was evaluated using Charpy (C) and falling-weight (FW) impact tests. Bar-shaped (60×6×2mm(3)) and denture-shaped specimens (2mm) for the C and FD tests, respectively, were prepared with Lucitone 550 (L) and Vipi Wave (V) and relined (2mm) using the same material or the autopolymerizing relining resins Tokuyama Rebase II (T) and Ufi Gel Hard (U). Bulk specimens (60×6×4mm(3)) of all materials (L, V, T and U) were also prepared and tested. To evaluate the effect of reinforcement, glass flakes were added to the powder of the relining resins T and U (5% by weight). Half of bar-shaped (n=320) and half of the denture-shaped specimens (n=480) were subjected to cyclic loading (10,000 cycles) before the impact tests. Data were analyzed by one-way ANOVAs (α=0.05) and revealed that the RI of L and V were comparable and higher than those of U and T. Compared to L and V, the RI was increased by relining with T and decreased by relining with U. When relining was made using the same material (L and V) the RI was maintained. Flexural cyclic loading and the incorporation of glass flakes into the resins T and U did not cause any significant alteration in the RI. A high correlation between results from C and FW tests was observed (r=0.8854). Relining may exert effects on the RI of L and V denture base resins, which vary according to the relining material used. The high correlation between C and FW, suggests that the Charpy test, using bar-shaped specimens, can be a simple and reliable method for evaluating factors that may influence the RI of denture base polymers. Copyright © 2014 Elsevier Ltd. All rights reserved.

  16. Trypanozoon: infectivity to humans is linked to reduced transmissibility in tsetse. II. Genetic mechanisms.

    Science.gov (United States)

    Milligan, P J; Maudlin, I; Welburn, S C

    1995-11-01

    Trypanozoon infections are less likely to mature in female tsetse than in males. Analysis of maturation data from 37 Trypanozoon isolates in Glossina m. morsitans showed that while the proportion of mature infections (salivary gland infections as a proportion of established midgut infections) varied from isolate to isolate, the proportion of mature infections in female flies was consistently smaller than the proportion in male flies. The log of the probability of maturation in females is, on average, twice the log of the probability in males (estimate of the ratio of the logged proportions is 2.09, 95% confidence interval (CI) 1.8 to 2.5). Human serum-resistant isolates were less likely to mature than human serum-sensitive isolates (ratio of logged proportions maturing was 1.5, 95% CI 1.3 to 1.8, in both male and female tsetse). Data for four other trypanosome stocks show that the probability of maturation decreases as the maturation time (the delay between the infected bloodmeal and maturation) increases. The decrease is approximately exponential with twice the half-life in male flies compared to that in female flies (estimate of the ratio of the exponential parameters is 1.97, 95% CI 0.7 to 3.3). A model is proposed to explain these observations which assumes that product(s) from an X-linked gene(s) kills or otherwise prevents migrating parasites from establishing a mature infection. Longer maturation times are associated with a heavy penalty in terms of transmissibility as measured by the vectorial capacity.

  17. Core loading pattern optimization of a typical two-loop 300 MWe PWR using Simulated Annealing (SA), novel crossover Genetic Algorithms (GA) and hybrid GA(SA) schemes

    International Nuclear Information System (INIS)

    Zameer, Aneela; Mirza, Sikander M.; Mirza, Nasir M.

    2014-01-01

    Highlights: • SA and GA based optimization for loading pattern has been carried out. • The LEOPARD and MCRAC codes for a typical PWR have been used. • At high annealing rates, the SA shows premature convergence. • Then novel crossover and mutation operators are proposed in this work. • Genetic Algorithms exhibit stagnation for small population sizes. - Abstract: A comparative study of the Simulated Annealing and Genetic Algorithms based optimization of loading pattern with power profile flattening as the goal, has been carried out using the LEOPARD and MCRAC neutronic codes, for a typical 300 MWe PWR. At high annealing rates, Simulated Annealing exhibited tendency towards premature convergence while at low annealing rates, it failed to converge to global minimum. The new ‘batch composition preserving’ Genetic Algorithms with novel crossover and mutation operators are proposed in this work which, consistent with the earlier findings (Yamamoto, 1997), for small population size, require comparable computational effort to Simulated Annealing with medium annealing rates. However, Genetic Algorithms exhibit stagnation for small population size. A hybrid Genetic Algorithms (Simulated Annealing) scheme is proposed that utilizes inner Simulated Annealing layer for further evolution of population at stagnation point. The hybrid scheme has been found to escape stagnation in bcp Genetic Algorithms and converge to the global minima with about 51% more computational effort for small population sizes

  18. Prediction of composite fatigue life under variable amplitude loading using artificial neural network trained by genetic algorithm

    Science.gov (United States)

    Rohman, Muhamad Nur; Hidayat, Mas Irfan P.; Purniawan, Agung

    2018-04-01

    Neural networks (NN) have been widely used in application of fatigue life prediction. In the use of fatigue life prediction for polymeric-base composite, development of NN model is necessary with respect to the limited fatigue data and applicable to be used to predict the fatigue life under varying stress amplitudes in the different stress ratios. In the present paper, Multilayer-Perceptrons (MLP) model of neural network is developed, and Genetic Algorithm was employed to optimize the respective weights of NN for prediction of polymeric-base composite materials under variable amplitude loading. From the simulation result obtained with two different composite systems, named E-glass fabrics/epoxy (layups [(±45)/(0)2]S), and E-glass/polyester (layups [90/0/±45/0]S), NN model were trained with fatigue data from two different stress ratios, which represent limited fatigue data, can be used to predict another four and seven stress ratios respectively, with high accuracy of fatigue life prediction. The accuracy of NN prediction were quantified with the small value of mean square error (MSE). When using 33% from the total fatigue data for training, the NN model able to produce high accuracy for all stress ratios. When using less fatigue data during training (22% from the total fatigue data), the NN model still able to produce high coefficient of determination between the prediction result compared with obtained by experiment.

  19. Improved genetic algorithm for economic load dispatch in hydropower plants and comprehensive performance comparison with dynamic programming method

    Science.gov (United States)

    Shang, Yizi; Lu, Shibao; Gong, Jiaguo; Liu, Ronghua; Li, Xiang; Fan, Qixiang

    2017-11-01

    This paper presents a practical genetic algorithm (GA)-based solution for solving the economic load dispatch problem (ELDP) and further compares the performance of the improved GA (IGA) with that of dynamic programming (DP). Specifically, their performance is comprehensively evaluated in terms of addressing the ELDP through a case study of 26 turbines in the Three Gorges Hydropower Plant with a focus on calculation accuracy, calculation time, and algorithm stability. Evaluation results show that the improved GA method can significantly reduce the ineffectiveness of the GA in current use and could avoid the running of the turbines in the cavitation/vibration zone, thereby ensuring the safety of the turbines during generating operations. Further, the analysis comparing the performance of the IGA and DP show that the IGA is superior to DP when a small number of turbines are involved. However, as the number of turbines increases, the IGA requires more calculation time than DP; moreover, its calculation accuracy and convergence rate are significantly reduced. It is difficult to guarantee the stability of IGA in high-dimension space even though the population grows, on account of the exponential expansion of the calculation dimension, the algorithm's premature convergence, and the lack of a local search capability. The improvement of the GA as well as the evaluation method proposed in this paper provide a new approach for choosing and improving optimization algorithms to solve the ELDP of large-scale hydropower plants.

  20. Osteopontin: an early innate immune marker of Escherichia coli mastitis harbors genetic polymorphisms with possible links with resistance to mastitis

    Directory of Open Access Journals (Sweden)

    St-Pierre Jessika

    2009-09-01

    Full Text Available Abstract Background Mastitis is the most important disease in dairy cows and it causes significant lost of profit to producers. Identification of the genes, and their variants, involved in innate immune responses is essential for the understanding of this inflammatory disease and to identify potential genetic markers for resistance to mastitis. The progeny of dairy cows would benefit from receiving favourable alleles that support greater resistance to infection, thus reducing antibiotic use. This study aims to identify a key gene in the innate immune response to mastitis, led us to evaluate its genetic association with somatic cell score (SCS, which is an indicator of clinical mastitis, and to evaluate its impact on other traits related to milk production. Results The osteopontin transcript (SPP1 was identified in the somatic cells from cows experimentally infected with Escherichia coli. By selecting bulls with extreme estimated breeding values (EBVs for SCS, which is an indicator of mammary gland health, four DNA polymorphisms in the SPP1 genomic sequence were found. Statistical analysis revealed that the SNP SPP1c.-1301G>A has an impact on EBV for SCS (P SPP1c.-1251C>T, SPP1c.-430G>A, and SPP1c.*40A>C have an impact on SCS whereas SPP1c.-1301G>A has an effect on the EBVs for milk yield (second and third lactations, fat and protein percentages (all three lactations. Analysis revealed statistically significant differences between haplotype groups at a comparison-wise level with sire EBVS for SCS for the first (P = 0.012, second (P P Conclusion This study reports the link between DNA polymorphisms of SPP1, the number of milk immune cells and, potentially, the susceptibility to mastitis. These SNPs were identified by in silico search to be located in transcription factor recognition sites which factors are presumably involved in the Th1 immune response and in the Th2 regulation pathway. Indeed, one SNP abolished the SP1 recognition site, whereas

  1. Radiation cross-linked carboxymethyl sago pulp hydrogels loaded with ciprofloxacin: Influence of irradiation on gel fraction, entrapped drug and in vitro release

    International Nuclear Information System (INIS)

    Lam, Yi Lyn; Muniyandy, Saravanan; Kamaruddin, Hashim; Mansor, Ahmad; Janarthanan, Pushpamalar

    2015-01-01

    Carboxymethyl sago pulp (CMSP) with 0.4 DS, viscosity 184 dl/g and molecular weight 76,000 g/mol was synthesized from sago waste. 10 and 20% w/v solutions of CMSP were irradiated at 10–30 kGy to form hydrogels and were characterized by % gel fraction (GF). Irradiation of 20% CMSP using 25 kGy has produced stable hydrogels with the highest % GF and hence loaded with ciprofloxacin HCl. Drug-loaded hydrogels were produced by irradiating the mixture of drug and 20% CMSP solution at 25 kGy. After irradiation, the hydrogels were cut into circular discs with a diameter of 6±1 mm and evaluated for physicochemical properties as well as drug release kinetics. The ciprofloxacin loading in the disc was 14.7%±1 w/w with an entrapment efficiency of 73.5% w/w. The low standard deviation of drug-loaded discs indicated uniform thickness (1.5±0.3 mm). The unloaded discs were thinner (1±0.4 mm) and more brittle than the drug-loaded discs. FESEM, FT-IR, XRD, DSC and TGA analysis revealed the absence of polymer–drug interaction and transformation of crystalline to amorphous form of ciprofloxacin in the discs. The disc sustained the drug release in phosphate buffer pH 7.4 over 36 h in a first-order manner. The mechanism of the drug release was found to be swelling controlled diffusion and matrix erosion. The anti-bacterial effect of ciprofloxacin was retained after irradiation and CMSP disc could be a promising device for ocular drug delivery. - Highlights: • Carboxymethyl sago pulp (CMSP) with ciprofloxacin is irradiated to form hydrogels. • 20% CMSP at 25 kGy has produced stable hydrogels with the highest gel fraction. • Crystalline ciprofloxacin converted as amorphous during hydrogel formation. • Hydrogel in disc form sustained the drug release drug up to 36 h. • Irradiation cross-linked polymeric chain of CMSP resulted in controlled swelling

  2. Clinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia: Report from Shanghai, China (2000-2015).

    Science.gov (United States)

    Chen, Xia-Fang; Wang, Wei-Fan; Zhang, Yi-Dan; Zhao, Wei; Wu, Jing; Chen, Tong-Xin

    2016-08-01

    X-linked agammaglobulinemia (XLA) is a humoral primary immunodeficiency. XLA patients typically present with very low numbers of peripheral B cells and a profound deficiency of all immunoglobulin isotypes. Most XLA patients carry mutations in Bruton tyrosine kinase (BTK) gene.The genetic background and clinical features of 174 Chinese patients with XLA were investigated. The relationship between specific BTK gene mutations and severity of clinical manifestations was also examined. Mutations were graded from mild to severe based on structural and functional prediction through bioinformatics analysis.One hundred twenty-seven mutations were identified in 142 patients from 124 families, including 45 novel mutations and 82 recurrent mutations that were distributed over the entire BTK gene sequence. Variation in phenotypes was observed, and there was a tendency of association between genotype and age of disease onset.This report constitutes the largest group of patients with BTK mutations in China. A genotype-phenotype correlation was observed in this study. Early diagnosis of congenital agammaglobulinemia should be based on clinical symptoms, family history, and molecular analysis of the BTK gene.

  3. Clinical and genetic features of the patients with X-Linked agammaglobulinemia from Turkey: Single-centre experience.

    Science.gov (United States)

    Esenboga, S; Cagdas, D; Ozgur, T T; Gur Cetinkaya, P; Turkdemir, L M; Sanal, O; VanDerBurg, M; Tezcan, I

    2018-03-01

    X-linked agammaglobulinemia is a primary immunodeficiency disorder resulting from BTK gene mutations. There are many studies in the literature suggesting contradictory ideas about phenotype-genotype correlation. The aim of this study was to identify the mutations and clinical findings of patients with XLA in Turkey, to determine long-term complications related to the disease and to analyse the phenotype-genotype correlation. Thirty-two patients with XLA diagnosed between 1985 and 2016 in Pediatric Immunology Department of Hacettepe University Ihsan Dogramaci Children's Hospital were investigated. A clinical survey including clinical features of the patients was completed, and thirty-two patients from 26 different families were included in the study. Getting early diagnosis and regular assessment with imaging techniques seem to be the most important issues for improving the health status of the patients with XLA. Early molecular analysis gives chance for definitive diagnosis and genetic counselling, but not for predicting the clinical severity and prognosis. © 2018 The Foundation for the Scandinavian Journal of Immunology.

  4. X chromosome-linked CNVs in male infertility: discovery of overall duplication load and recurrent, patient-specific gains with potential clinical relevance.

    Directory of Open Access Journals (Sweden)

    Chiara Chianese

    Full Text Available Spermatogenesis is a highly complex process involving several thousand genes, only a minority of which have been studied in infertile men. In a previous study, we identified a number of Copy Number Variants (CNVs by high-resolution array-Comparative Genomic Hybridization (a-CGH analysis of the X chromosome, including 16 patient-specific X chromosome-linked gains. Of these, five gains (DUP1A, DUP5, DUP20, DUP26 and DUP40 were selected for further analysis to evaluate their clinical significance.The copy number state of the five selected loci was analyzed by quantitative-PCR on a total of 276 idiopathic infertile patients and 327 controls in a conventional case-control setting (199 subjects belonged to the previous a-CGH study. For one interesting locus (intersecting DUP1A additional 338 subjects were analyzed.All gains were confirmed as patient-specific and the difference in duplication load between patients and controls is significant (p = 1.65 × 10(-4. Two of the CNVs are private variants, whereas 3 are found recurrently in patients and none of the controls. These CNVs include, or are in close proximity to, genes with testis-specific expression. DUP1A, mapping to the PAR1, is found at the highest frequency (1.4% that was significantly different from controls (0% (p = 0.047 after Bonferroni correction. Two mechanisms are proposed by which DUP1A may cause spermatogenic failure: i by affecting the correct regulation of a gene with potential role in spermatogenesis; ii by disturbing recombination between PAR1 regions during meiosis. This study allowed the identification of novel spermatogenesis candidate genes linked to the 5 CNVs and the discovery of the first recurrent, X-linked gain with potential clinical relevance.

  5. Prenatal Three-Dimensional Ultrasound Detection of Adducted Thumbs in X-Linked Hydrocephaly: Two Case Reports with Molecular Genetic Studies

    Science.gov (United States)

    Corral, Edgardo; Barrios, Andres; Isnard, Monica; Saugier-Veber, Pascale; Fortier, Sophie M.; Durrin, Sarah; Sepulveda, Waldo

    2015-01-01

    X-linked hydrocephaly is a rare sex-linked genetic recessive condition occurring in 1/30,000 deliveries. Adduction of thumbs and mental retardation are additional associated clinical findings. We describe two cases of X-linked hydrocephaly with associated adducted thumbs that were diagnosed prenatally with the combined use of three-dimensional (3D) ultrasound and fetal blood sampling for cytogenetic and molecular analyses. This report suggests that 3D ultrasound can facilitate the identification of adducted thumbs in fetuses affected by X-linked hydrocephaly and supports evaluation of the fetal hands as an integral part of the ultrasound anatomical assessment in male fetuses with hydrocephaly secondary to aqueductal stenosis. PMID:26078893

  6. A parametric interpretation of Bayesian Nonparametric Inference from Gene Genealogies: Linking ecological, population genetics and evolutionary processes.

    Science.gov (United States)

    Ponciano, José Miguel

    2017-11-22

    Using a nonparametric Bayesian approach Palacios and Minin (2013) dramatically improved the accuracy, precision of Bayesian inference of population size trajectories from gene genealogies. These authors proposed an extension of a Gaussian Process (GP) nonparametric inferential method for the intensity function of non-homogeneous Poisson processes. They found that not only the statistical properties of the estimators were improved with their method, but also, that key aspects of the demographic histories were recovered. The authors' work represents the first Bayesian nonparametric solution to this inferential problem because they specify a convenient prior belief without a particular functional form on the population trajectory. Their approach works so well and provides such a profound understanding of the biological process, that the question arises as to how truly "biology-free" their approach really is. Using well-known concepts of stochastic population dynamics, here I demonstrate that in fact, Palacios and Minin's GP model can be cast as a parametric population growth model with density dependence and environmental stochasticity. Making this link between population genetics and stochastic population dynamics modeling provides novel insights into eliciting biologically meaningful priors for the trajectory of the effective population size. The results presented here also bring novel understanding of GP as models for the evolution of a trait. Thus, the ecological principles foundation of Palacios and Minin (2013)'s prior adds to the conceptual and scientific value of these authors' inferential approach. I conclude this note by listing a series of insights brought about by this connection with Ecology. Copyright © 2017 The Author. Published by Elsevier Inc. All rights reserved.

  7. Common Genetic Variation Near Melatonin Receptor 1A Gene Linked to Job-Related Exhaustion in Shift Workers.

    Science.gov (United States)

    Sulkava, Sonja; Ollila, Hanna M; Alasaari, Jukka; Puttonen, Sampsa; Härmä, Mikko; Viitasalo, Katriina; Lahtinen, Alexandra; Lindström, Jaana; Toivola, Auli; Sulkava, Raimo; Kivimäki, Mika; Vahtera, Jussi; Partonen, Timo; Silander, Kaisa; Porkka-Heiskanen, Tarja; Paunio, Tiina

    2017-01-01

    Tolerance to shift work varies; only some shift workers suffer from disturbed sleep, fatigue, and job-related exhaustion. Our aim was to explore molecular genetic risk factors for intolerance to shift work. We assessed intolerance to shift work with job-related exhaustion symptoms in shift workers using the emotional exhaustion subscale of the Maslach Burnout Inventory-General Survey, and carried out a genome-wide association study (GWAS) using Illumina's Human610-Quad BeadChip (n = 176). The most significant findings were further studied in three groups of Finnish shift workers (n = 577). We assessed methylation in blood cells with the Illumina HumanMethylation450K BeadChip, and examined gene expression levels in the publicly available eGWAS Mayo data. The second strongest signal identified in the GWAS (p = 2.3 × 10E-6) was replicated in two of the replication studies with p exhaustion in shift workers with rs12506228, located downstream of the melatonin receptor 1A gene (MTNR1A). The risk allele was also associated with reduced in silico gene expression levels of MTNR1A in brain tissue and suggestively associated with changes in DNA methylation in the 5' regulatory region of MTNR1A. These findings suggest that a variant near MTNR1A may be associated with job-related exhaustion in shift workers. The risk variant may exert its effect via epigenetic mechanisms, potentially leading to reduced melatonin signaling in the brain. These results could indicate a link between melatonin signaling, a key circadian regulatory mechanism, and tolerance to shift work.

  8. The genetic link between the Azores Archipelago and the Southern Azores Seamount Chain (SASC): The elemental, isotopic and chronological evidences

    Science.gov (United States)

    Ribeiro, Luisa Pinto; Martins, Sofia; Hildenbrand, Anthony; Madureira, Pedro; Mata, João

    2017-12-01

    New geochemical, isotopic (Sr-Nd-Hf-Pb) and K-Ar data, are presented here on samples from the Southern Azores Seamount Chain (SASC) located south of the Azores Plateau. The SASC also includes the Great Meteor, Small Meteor and Closs seamounts, morphologically connected by a saddle at - 4100 m deep. We conclude that the SASC are characterized by a narrow isotopic variability that falls within the Azores isotopic field. Although each seamount has its own isotopic signature, their mantle source must comprise four local mantle end-members, three of which are common to the Azores, e.g. Plato isotopic signature results from the mixing between HIMU and N-MORB while Great Meteor signature results from this mix with the Azores Common Component (AzCC). A fourth end-member with high 208Pb/204Pb and decoupled Th/U ratios (Δ8/4 up to 59.2) is identified on Great Meteor northern flank. New K-Ar ages on Plato (33.4 ± 0.5 Ma) and Small Hyeres (31.6 ± 0.4 Ma) show nearly coeval volcanism, which is contemporaneous with the E-MORBs erupted at the MAR, drilled on oceanic crust with 30-34 Ma (DSDP82). This study endorses the genetic link between the Azores Archipelago and the SASC to the long-term activity of the Azores plume and the large-scale ridge-hotspot interaction, contributing to better constrain the temporal-spatial evolution of this region of the North Atlantic.

  9. The link between obesity and vitamin D in bariatric patients with omega-loop gastric bypass surgery - a vitamin D supplementation trial to compare the efficacy of postoperative cholecalciferol loading (LOAD): study protocol for a randomized controlled trial.

    Science.gov (United States)

    Luger, Maria; Kruschitz, Renate; Marculescu, Rodrig; Haslacher, Helmuth; Hoppichler, Friedrich; Kallay, Enikö; Kienbacher, Christian; Klammer, Carmen; Kral, Melanie; Langer, Felix; Luger, Eva; Prager, Gerhard; Trauner, Michael; Traussnigg, Stefan; Würger, Tanja; Schindler, Karin; Ludvik, Bernhard

    2015-08-05

    Beyond its classical role in calcium homoeostasis and bone metabolism, vitamin D deficiency has been found to be associated with several diseases, including diabetes, non-alcoholic fatty liver disease, and even obesity itself. Importantly, there are limited data on therapeutic strategies for vitamin D deficiency in bariatric patients, and the procedure-specific guidelines may not be sufficient. To improve long-term outcomes, nutritional screening and appropriate supplementation to prevent nutrient deficiencies are urgently needed. Therefore, the aim of this study is to examine effects and safety of a forced dosing regimen of vitamin D versus conventional dose supplementation on vitamin D levels and other parameters in bariatric patients. The study includes loading plus repeat dosing compared with repeated administration of vitamin D without a loading dose, according to guidelines, in a prospective, double-blind, randomized controlled trial. Up to a triple oral loading dose is given on day 1, then 2 and 4 weeks after surgery (100,000 IU dose each time), followed by an oral maintenance dose (3420 IU/day). The control group (n = 25) will receive placebo, followed by administration of a standard dose (3420 IU/day). We hypothesize that a significant increase in vitamin D levels will occur in patients in the treatment group (n = 25) by 24 weeks after surgery. Further measurements are aimed at evaluating changes in inflammation, bone turnover, insulin resistance, blood pressure, liver, mental health, and gut microbiota of patients undergoing omega-loop gastric bypass surgery. Furthermore, possible associations between concentrations of vitamin D, the involved enzymes, or vitamin D receptor in adipose and/or liver tissues will be determined. To our knowledge, this trial is the first of its kind with this type of vitamin D supplementation in bariatric patients. Its major strength is the design and implementation of evaluation of influencing factors such as liver

  10. Fine-scale spatial genetic structure analysis of the black truffle Tuber aestivum and its link to aroma variability.

    Science.gov (United States)

    Molinier, Virginie; Murat, Claude; Frochot, Henri; Wipf, Daniel; Splivallo, Richard

    2015-08-01

    Truffles are symbiotic fungi in high demand by food connoisseurs. Improving yield and product quality requires a better understanding of truffle genetics and aroma biosynthesis. One aim here was to investigate the diversity and fine-scale spatial genetic structure of the Burgundy truffle Tuber aestivum. The second aim was to assess how genetic structuring along with fruiting body maturation and geographical origin influenced single constituents of truffle aroma. A total of 39 Burgundy truffles collected in two orchards were characterized in terms of aroma profile (SPME-GC/MS) and genotype (microsatellites). A moderate genetic differentiation was observed between the populations of the two orchards. An important seasonal and spatial genetic structuring was detected. Within one orchard, individuals belonging to the same genet were generally collected during a single season and in the close vicinity from each other. Maximum genet size nevertheless ranged from 46 to 92 m. Geographical origin or maturity only had minor effects on aroma profiles but genetic structuring, specifically clonal identity, had a pronounced influence on the concentrations of C8 - and C4 -VOCs. Our results highlight a high seasonal genetic turnover and indicate that the aroma of Burgundy truffle is influenced by the identity of single clones/genets. © 2015 Society for Applied Microbiology and John Wiley & Sons Ltd.

  11. Conservation of Sex-Linked Markers among Conspecific Populations of a Viviparous Skink, Niveoscincus ocellatus, Exhibiting Genetic and Temperature-Dependent Sex Determination

    Science.gov (United States)

    Burridge, Christopher P; Ezaz, Tariq; Wapstra, Erik

    2018-01-01

    Abstract Sex determination systems are exceptionally diverse and have undergone multiple and independent evolutionary transitions among species, particularly reptiles. However, the mechanisms underlying these transitions have not been established. Here, we tested for differences in sex-linked markers in the only known reptile that is polymorphic for sex determination system, the spotted snow skink, Niveoscincus ocellatus, to quantify the genomic differences that have accompanied this transition. In a highland population, sex is determined genetically, whereas in a lowland population, offspring sex ratio is influenced by temperature. We found a similar number of sex-linked loci in each population, including shared loci, with genotypes consistent with male heterogamety (XY). However, population-specific linkage disequilibrium suggests greater differentiation of sex chromosomes in the highland population. Our results suggest that transitions between sex determination systems can be facilitated by subtle genetic differences. PMID:29659810

  12. Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria.

    Science.gov (United States)

    Balwani, Manisha; Naik, Hetanshi; Anderson, Karl E; Bissell, D Montgomery; Bloomer, Joseph; Bonkovsky, Herbert L; Phillips, John D; Overbey, Jessica R; Wang, Bruce; Singal, Ashwani K; Liu, Lawrence U; Desnick, Robert J

    2017-08-01

    Autosomal recessive erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare photodermatoses presenting with variable degrees of painful phototoxicity that markedly affects quality of life. The clinical variability, determinants of severity, and genotype/phenotype correlations of these diseases are not well characterized. To describe the baseline clinical characteristics, genotypes, and determinants of disease severity in a large patient cohort with EPP or XLP. A prospective observational study was conducted among patients with confirmed diagnoses of EPP or XLP from November 1, 2010, to December 6, 2015, at 6 academic medical centers of the Porphyrias Consortium of the National Institutes of Health Rare Diseases Clinical Research Network. Detailed medical histories, including history of phototoxicity and treatment, were collected on standardized case report forms. Patients underwent baseline laboratory testing, total erythrocyte protoporphyrin (ePPIX) testing, and molecular genetic testing. Data were entered into a centralized database. Results of biochemical and genetic tests were explored for association with clinical phenotype in patients with EPP or XLP. Of the 226 patients in the study (113 female and 113 male patients; mean [SD] age, 36.7 [17.0] years), 186 (82.3%) had EPP with a FECH (OMIM 612386) mutation and the common low-expression FECH allele IVS3-48T>C, and only 1 patient had 2 FECH mutations. Twenty-two patients had XLP (9.7%; 10 male and 12 female patients), and 9 patients (4.0%) had elevated ePPIX levels and symptoms consistent with protoporphyria but no detectable mutation in the FECH or ALAS2 (OMIM 301300) gene. Samples of DNA could not be obtained from 8 patients. Patients' mean (SD) age at symptom onset was 4.4 (4.4) years. Anemia (107 [47.3%]), history of liver dysfunction (62 [27.4%]), and gallstones (53 [23.5%]) were commonly reported. Higher ePPIX levels were associated with earlier age of symptom onset (median e

  13. Genetics

    Science.gov (United States)

    ... Likelihood of getting certain diseases Mental abilities Natural talents An abnormal trait (anomaly) that is passed down ... one of them has a genetic disorder. Information Human beings have cells with 46 chromosomes . These consist ...

  14. Genetics Home Reference: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia

    Science.gov (United States)

    ... Conditions XMEN X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia Printable PDF Open All Close ... boxes. Description X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (typically known by the acronym ...

  15. Disease ecology in the Galápagos Hawk (Buteo galapagoensis): host genetic diversity, parasite load and natural antibodies

    NARCIS (Netherlands)

    Whiteman, N.K.; Matson, K.D.; Bollmer, J.L.; Parker, P.G.

    2006-01-01

    An increased susceptibility to disease is one hypothesis explaining how inbreeding hastens extinction in island endemics and threatened species. Experimental studies show that disease resistance declines as inbreeding increases, but data from in situ wildlife systems are scarce. Genetic diversity

  16. The Genetics Underlying Natural Variation in the Biotic Interactions of Arabidopsis thaliana: The Challenges of Linking Evolutionary Genetics and Community Ecology.

    Science.gov (United States)

    Roux, F; Bergelson, J

    2016-01-01

    In the context of global change, predicting the responses of plant communities in an ever-changing biotic environment calls for a multipronged approach at the interface of evolutionary genetics and community ecology. However, our understanding of the genetic basis of natural variation involved in mediating biotic interactions, and associated adaptive dynamics of focal plants in their natural communities, is still in its infancy. Here, we review the genetic and molecular bases of natural variation in the response to biotic interactions (viruses, bacteria, fungi, oomycetes, herbivores, and plants) in the model plant Arabidopsis thaliana as well as the adaptive value of these bases. Among the 60 identified genes are a number that encode nucleotide-binding site leucine-rich repeat (NBS-LRR)-type proteins, consistent with early examples of plant defense genes. However, recent studies have revealed an extensive diversity in the molecular mechanisms of defense. Many types of genetic variants associate with phenotypic variation in biotic interactions, even among the genes of large effect that tend to be identified. In general, we found that (i) balancing selection rather than directional selection explains the observed patterns of genetic diversity within A. thaliana and (ii) the cost/benefit tradeoffs of adaptive alleles can be strongly dependent on both genomic and environmental contexts. Finally, because A. thaliana rarely interacts with only one biotic partner in nature, we highlight the benefit of exploring diffuse biotic interactions rather than tightly associated host-enemy pairs. This challenge would help to improve our understanding of coevolutionary quantitative genetics within the context of realistic community complexity. © 2016 Elsevier Inc. All rights reserved.

  17. Genetics

    International Nuclear Information System (INIS)

    Hubitschek, H.E.

    1975-01-01

    Progress is reported on the following research projects: genetic effects of high LET radiations; genetic regulation, alteration, and repair; chromosome replication and the division cycle of Escherichia coli; effects of radioisotope decay in the DNA of microorganisms; initiation and termination of DNA replication in Bacillus subtilis; mutagenesis in mouse myeloma cells; lethal and mutagenic effects of near-uv radiation; effect of 8-methoxypsoralen on photodynamic lethality and mutagenicity in Escherichia coli; DNA repair of the lethal effects of far-uv; and near uv irradiation of bacterial cells

  18. The ABCs of Math: A Genetic Analysis of Mathematics and Its Links With Reading Ability and General Cognitive Ability.

    Science.gov (United States)

    Hart, Sara A; Petrill, Stephen A; Thompson, Lee A; Plomin, Robert

    2009-05-01

    The goal of this first major report from the Western Reserve Reading Project Math component is to explore the etiology of the relationship among tester-administered measures of mathematics ability, reading ability, and general cognitive ability. Data are available on 314 pairs of monozygotic and same-sex dizygotic twins analyzed across 5 waves of assessment. Univariate analyses provide a range of estimates of genetic (h(2) = .00 -.63) and shared (c(2) = .15-.52) environmental influences across math calculation, fluency, and problem solving measures. Multivariate analyses indicate genetic overlap between math problem solving with general cognitive ability and reading decoding, whereas math fluency shares significant genetic overlap with reading fluency and general cognitive ability. Further, math fluency has unique genetic influences. In general, math ability has shared environmental overlap with general cognitive ability and decoding. These results indicate that aspects of math that include problem solving have different genetic and environmental influences than math calculation. Moreover, math fluency, a timed measure of calculation, is the only measured math ability with unique genetic influences.

  19. Genetic-linked Inattentiveness Protects Individuals from Internet Overuse: A Genetic Study of Internet Overuse Evaluating Hypotheses Based on Addiction, Inattention, Novelty-seeking and Harm-avoidance

    Directory of Open Access Journals (Sweden)

    Cheng Sun

    2016-06-01

    Full Text Available The all-pervasive Internet has created serious problems, such as Internet overuse, which has triggered considerable debate over its relationship with addiction. To further explore its genetic susceptibilities and alternative explanations for Internet overuse, we proposed and evaluated four hypotheses, each based on existing knowledge of the biological bases of addiction, inattention, novelty-seeking, and harm-avoidance. Four genetic loci including DRD4 VNTR, DRD2 Taq1A, COMT Val158Met and 5-HTTLPR length polymorphisms were screened from seventy-three individuals. Our results showed that the DRD4 4R/4R individuals scored significantly higher than the 2R or 7R carriers in Internet Addiction Test (IAT. The 5-HTTLPR short/short males scored significantly higher in IAT than the long variant carriers. Bayesian analysis showed the most compatible hypothesis with the observed genetic results was based on attention (69.8%, whereas hypotheses based harm-avoidance (21.6%, novelty-seeking (7.8% and addiction (0.9% received little support. Our study suggests that carriers of alleles (DRD4 2R and 7R, 5-HTTLPR long associated with inattentiveness are more likely to experience disrupted patterns and reduced durations of Internet use, protecting them from Internet overuse. Furthermore, our study suggests that Internet overuse should be categorized differently from addiction due to the lack of shared genetic contributions.

  20. Genetics

    DEFF Research Database (Denmark)

    Christensen, Kaare; McGue, Matt

    2016-01-01

    The sequenced genomes of individuals aged ≥80 years, who were highly educated, self-referred volunteers and with no self-reported chronic diseases were compared to young controls. In these data, healthy ageing is a distinct phenotype from exceptional longevity and genetic factors that protect...

  1. Loss of Function Studies in Mice and Genetic Association Link Receptor Protein Tyrosine Phosphatase a to Schizophrenia

    DEFF Research Database (Denmark)

    Takahashi, Nagahide; Nielsen, Karin Sandager; Aleksic, Branko

    2011-01-01

    Solid evidence links schizophrenia (SZ) susceptibility to neurodevelopmental processes involving tyrosine phosphorylation-mediated signaling. Mouse studies implicate the Ptpra gene, encoding protein tyrosine phosphatase RPTPa, in the control of radial neuronal migration, cortical cytoarchitecture...

  2. Genetic Mapping

    Science.gov (United States)

    ... Links for Patient Care Education All About the Human Genome Project Fact Sheets Genetic Education Resources for Teachers Genomic ... genetic mapping? Among the main goals of the Human Genome Project (HGP) was to develop new, better and cheaper ...

  3. Genetically encoded releasable photo-cross-linking strategies for studying protein-protein interactions in living cells.

    Science.gov (United States)

    Yang, Yi; Song, Haiping; He, Dan; Zhang, Shuai; Dai, Shizhong; Xie, Xiao; Lin, Shixian; Hao, Ziyang; Zheng, Huangtao; Chen, Peng R

    2017-10-01

    Although protein-protein interactions (PPIs) have crucial roles in virtually all cellular processes, the identification of more transient interactions in their biological context remains challenging. Conventional photo-cross-linking strategies can be used to identify transient interactions, but these approaches often suffer from high background due to the cross-linked bait proteins. To solve the problem, we have developed membrane-permeable releasable photo-cross-linkers that allow for prey-bait separation after protein complex isolation and can be installed in proteins of interest (POIs) as unnatural amino acids. Here we describe the procedures for using two releasable photo-cross-linkers, DiZSeK and DiZHSeC, in both living Escherichia coli and mammalian cells. A cleavage after protein photo-cross-linking (CAPP ) strategy based on the photo-cross-linker DiZSeK is described, in which the prey protein pool is released from a POI after affinity purification. Prey proteins are analyzed using mass spectrometry or 2D gel electrophoresis for global comparison of interactomes from different experimental conditions. An in situ cleavage and mass spectrometry (MS)-label transfer after protein photo-cross-linking (IMAPP) strategy based on the photo-cross-linker DiZHSeC is also described. This strategy can be used for the identification of cross-linking sites to allow detailed characterization of PPI interfaces. The procedures for photo-cross-linker incorporation, photo-cross-linking of interaction partners and affinity purification of cross-linked complexes are similar for the two photo-cross-linkers. The final section of the protocol describes prey-bait separation (for CAPP) and MS-label transfer and identification (for IMAPP). After plasmid construction, the CAPP and IMAPP strategies can be completed within 6 and 7 d, respectively.

  4. A Danish Twin Study of Schizophrenia Liability: Investigation from Interviewed Twins for Genetic Links to Affective Psychoses and for Cross-Cohort Comparisons.

    Science.gov (United States)

    Kläning, Ulla; Trumbetta, Susan L; Gottesman, Irving I; Skytthe, Axel; Kyvik, Kirsten O; Bertelsen, Aksel

    2016-03-01

    We studied schizophrenia liability in a Danish population-based sample of 44 twin pairs (13 MZ, 31 DZ, SS plus OS) in order to replicate previous twin study findings using contemporary diagnostic criteria, to examine genetic liability shared between schizophrenia and other disorders, and to explore whether variance in schizophrenia liability attributable to environmental factors may have decreased with successive cohorts exposed to improvements in public health. ICD-10 diagnoses were determined by clinical interview. Although the best-fitting, most parsimonious biometric model of schizophrenia liability specified variance attributable to additive genetic and non-shared environmental factors, this model did not differ significantly from a model that also included non-additive genetic factors, consistent with recent interview-based twin studies. Schizophrenia showed strong genetic links to other psychotic disorders but much less so for the broader category of psychiatric disorders in general. We also observed a marginally significant decline in schizophrenia variance attributable to environmental factors over successive Western European cohorts, consistent perhaps with improvements in diagnosis and in prenatal and perinatal care and with a secular decline in the prevalence of schizophrenia in that region.

  5. Population genetics of Phytophthora infestans in Denmark reveals dominantly clonal populations and specific alleles linked to metalaxyl-M resistance

    DEFF Research Database (Denmark)

    Montes, Melanie Sarah; Nielsen, B. J.; Schmidt, S. G.

    2016-01-01

    Control of the potato late blight pathogen Phytophthora infestans relies heavily on chemicals. The fungicide metalaxyl-M (Mefenoxam) has played an important role in controlling the disease, but insensitivity to the fungicide in certain isolates is now of major concern. A genetic basis for resista......Control of the potato late blight pathogen Phytophthora infestans relies heavily on chemicals. The fungicide metalaxyl-M (Mefenoxam) has played an important role in controlling the disease, but insensitivity to the fungicide in certain isolates is now of major concern. A genetic basis...

  6. Analysis of dominant and recessive sex-linked lethal mutations induced by low radiation doses in genetically different strains of Drosophila melanogaster w and MS

    International Nuclear Information System (INIS)

    Aslanyan, M.M.; Kim, A.I.; Magomedova, M.A.; Fatkulbayanova, N.L.

    1994-01-01

    Frequencies of induced recessive sex-linked lethal mutations (RSLLM) and dominant lethal mutations (DLM) were analyzed in genetically different Drosophila melanogaster strains w and MS after their exposure to radiation on radioactive soil in laboratory conditions. The RSLLM test applied to males after their 14-day radiation exposure yielded controversial results. An analysis of induced and spontaneous DLM demonstrated an increase in the frequency of early embryonic lethal mutations in the experiment (radiation exposure) in comparison with the control (spontaneous mutation rate) in both strains examined

  7. Genome-wide Association and Longitudinal Analyses Reveal Genetic Loci Linking Pubertal Height Growth, Pubertal Timing, and Childhood Adiposity

    DEFF Research Database (Denmark)

    Cousminer, Diana L; Berry, Diane J; Timpson, Nicholas J

    2013-01-01

    The pubertal height growth spurt is a distinctive feature of childhood growth reflecting both the central onset of puberty and local growth factors. While little is known about the underlying genetics, growth variability during puberty correlates with adult risks for hormone-dependent cancer and ...

  8. Genetic variation in Asterionella formosa (Bacillariophyceae) is it linked to frequent epidemics of host-specific parasitic fungi?

    NARCIS (Netherlands)

    De Bruin, A.; Ibelings, B.W.; Rijkeboer, M.; Brehm, Michaela; Van Donk, E.

    2004-01-01

    Understanding of the genetic basis for susceptibility and resistance is still lacking for most aquatic host-parasite systems, for instance, for phytoplankton and their fungal parasites. Fungal parasites can have significant effects on phytoplankton populations, mainly through their ability to

  9. Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity

    NARCIS (Netherlands)

    Cousminer, Diana L.; Berry, Diane J.; Timpson, Nicholas J.; Ang, Wei; Thiering, Elisabeth; Byrne, Enda M.; Taal, H. Rob; Huikari, Ville; Bradfield, Jonathan P.; Kerkhof, Marjan; Groen-Blokhuis, Maria M.; Kreiner-Moller, Eskil; Marinelli, Marcella; Holst, Claus; Leinonen, Jaakko T.; Perry, John R. B.; Surakka, Ida; Pietilainen, Olli; Kettunen, Johannes; Anttila, Verneri; Kaakinen, Marika; Sovio, Ulla; Pouta, Anneli; Das, Shikta; Lagou, Vasiliki; Power, Chris; Prokopenko, Inga; Evans, David M.; Kemp, John P.; St Pourcain, Beate; Ring, Susan; Palotie, Aarno; Kajantie, Eero; Osmond, Clive; Lehtimaki, Terho; Viikari, Jorma S.; Kahonen, Mika; Warrington, Nicole M.; Lye, Stephen J.; Palmer, Lyle J.; Tiesler, Carla M. T.; Flexeder, Claudia; Montgomery, Grant W.; Medland, Sarah E.; Hofman, Albert; Hakonarson, Hakon; Guxens, Monica; Bartels, Meike; Salomaa, Veikko; Murabito, Joanne M.; Kaprio, Jaakko; Sorensen, Thorkild I. A.; Ballester, Ferran; Bisgaard, Hans; Boomsma, Dorret I.; Koppelman, Gerard H.; Grant, Struan F. A.; Jaddoe, Vincent W. V.; Martin, Nicholas G.; Heinrich, Joachim; Pennell, Craig E.; Raitakari, Olli T.; Eriksson, Johan G.; Smith, George Davey; Hypponen, Elina; Jarvelin, Marjo-Riitta; McCarthy, Mark I.; Ripatti, Samuli; Widen, Elisabeth

    2013-01-01

    The pubertal height growth spurt is a distinctive feature of childhood growth reflecting both the central onset of puberty and local growth factors. Although little is known about the underlying genetics, growth variability during puberty correlates with adult risks for hormone-dependent cancer and

  10. Linking noninvasive genetic sampling and traditional monitoring to aid management of a trans-border carnivore population.

    Science.gov (United States)

    Bischof, Richard; Swenson, Jon E

    2012-01-01

    Noninvasive genetic sampling has been embraced by wildlife managers and ecologists, especially those charged with monitoring rare and elusive species over large areas. Challenges arise when desired population measures are not directly attainable from genetic data and when monitoring targets trans-border populations. Norwegian management authorities count individual brown bears (Ursus arctos) using noninvasive genetic sampling but express management goals in the annual number of bear reproductions (females that produce cubs), a measure that is not directly available from genetic data. We combine noninvasive genetic sampling data with information obtained from a long-term intensive monitoring study in neighboring Sweden to estimate the number of annual reproductions by females detected within Norway. Most female brown bears in Norway occur near the border with neighboring countries (Sweden, Finland, and Russia) and their potential reproduction can therefore only partially be credited to Norway. Our model includes a simulation-based method that corrects census data to account for this. We estimated that 4.3 and 5.7 reproductions can be credited to females detected with noninvasive genetic sampling in Norway in 2008 and 2009, respectively. These numbers fall substantially short of the national target (15 annual reproductions). Ignoring the potential for home ranges to extend beyond Norway's borders leads to an increase in the estimate of the number of reproductions by -30%. Our study shows that combining noninvasive genetic sampling with information obtained from traditional intensive/invasive monitoring can help answer contemporary management questions in the currency desired by managers and policy makers. Furthermore, combining methodologies and thereby accounting for space use increases the accuracy of the information on which decisions are based. It is important that the information derived from multiple approaches is applicable to the same focal population and

  11. Pre-breeding: a link between genetic resources and maize breeding Pré-melhoramento: uma ponte entre os recursos genéticos e o melhoramento de milho

    OpenAIRE

    Luciano Lourenço Nass; Ernesto Paterniani

    2000-01-01

    Activities related to genetic resources are characterized by high cost and long term return. Thus the conservation of genetic variability for the future and the efficient utilization of available accessions are two important goals to be attained. However, the low utilization of germplasm banks is not restricted to Brazil but to other developing countries as well. Therefore, pre-breeding is a promising alternative to link genetic resources and breeding programs. Several aspects for maize are d...

  12. Linking dendroecology and association genetics in natural populations: Stress responses archived in tree rings associate with SNP genotypes in silver fir (Abies alba Mill.).

    Science.gov (United States)

    Heer, K; Behringer, D; Piermattei, A; Bässler, C; Brandl, R; Fady, B; Jehl, H; Liepelt, S; Lorch, S; Piotti, A; Vendramin, G G; Weller, M; Ziegenhagen, B; Büntgen, U; Opgenoorth, L

    2018-02-14

    Genetic association studies in forest trees would greatly benefit from information on the response of trees to environmental stressors over time, which can be provided by dendroecological analysis. Here, we jointly analysed dendroecological and genetic data of surviving silver fir trees to explore the genetic basis of their response to the iconic stress episode of the 1970s and 1980s that led to large-scale forest dieback in Central Europe and has been attributed to air pollution. Specifically, we derived dendrophenotypic measures from 190 trees in the Bavarian Forest that characterize the resistance, resilience and recovery during this growth depression, and in the drought year in 1976. By focusing on relative growth changes of trees and by standardizing the dendrophenotypes within stands, we accounted for variation introduced by micro- and macroscale environmental differences. We associated the dendrophenotypes with single nucleotide polymorphisms (SNPs) in candidate genes using general linear models (GLMs) and the machine learning algorithm random forest with subsequent feature selection. Most trees at our study sites experienced a severe growth decline from 1974 until the mid-1980s with minimum values during the drought year. Fifteen genes were associated with the dendrophenotypes, including genes linked to photosynthesis and drought stress. With our study, we show that dendrophenotypes can be a powerful resource for genetic association studies that permit to account for micro- and macroenvironmental variation when data are derived from natural populations. We call for a wider collaboration of dendroecologists and forest geneticists to integrate individual tree-level dendrophenotypes in genetic association studies. © 2018 John Wiley & Sons Ltd.

  13. Preschoolers’ Genetic, Physiological, and Behavioral Sensitivity Factors Moderate Links Between Parenting Stress and Child Internalizing, Externalizing, and Sleep Problems

    Science.gov (United States)

    Davis, Molly; Thomassin, Kristel; Bilms, Joanie; Suveg, Cynthia; Shaffer, Anne; Beach, Steven R. H.

    2017-01-01

    This study examined three potential moderators of the relations between maternal parenting stress and preschoolers’ adjustment problems: a genetic polymorphism - the short allele of the serotonin transporter (5-HTTLPR, ss/sl allele) gene, a physiological indicator - children’s baseline respiratory sinus arrhythmia (RSA), and a behavioral indicator - mothers’ reports of children’s negative emotionality. A total of 108 mothers (Mage = 30.68 years, SDage = 6.06) reported on their parenting stress as well as their preschoolers’ (Mage = 3.50 years, SDage = .51, 61% boys) negative emotionality and internalizing, externalizing, and sleep problems. Results indicated that the genetic sensitivity variable functioned according to a differential susceptibility model; however, the results involving physiological and behavioral sensitivity factors were most consistent with a diathesis-stress framework. Implications for prevention and intervention efforts to counter the effects of parenting stress are discussed. PMID:28295263

  14. X-linked hyper-immunoglobulin M syndrome: molecular genetic study and long-time follow-up of three generations of a Chinese family.

    Science.gov (United States)

    Lin, Sheng-Chieh; Shyur, Shyh-Dar; Lee, Wen-I; Ma, Yi-Chun; Huang, Li-Hsin

    2006-01-01

    X-linked hyper-immunoglobulin M (IgM) syndrome (XHIGM) is a rare immunodeficiency disease caused by mutations of the CD40 ligand gene. Patients are subject to recurrent infections and have normal or elevated levels of IgM but markedly decreased serum IgG. We describe molecular genetic studies and clinical manifestations in three generations of one family, as well as results of long-term treatment of 2 young men with the disorder. Of 37 living family members, mutational analysis of the CD40 ligand gene was performed in 36 members. Laboratory data for patients and carriers were reviewed. Four male family members had died of unexplained causes. The 3 patients with XHIGM syndrome and the 5 carriers all had a novel mutation located at Tyr 169 Asn (T526A) in exon 5, the tumor necrosis factor domain of the CD40 ligand gene. In the 3 patients, CD40 ligand expression in activated CD4+ T cells was below 1%. In the carriers, about half of activated CD4+ cells expressed CD40 ligand. One carrier had malignant lymphoma. Long-term (>20 years) intravenous immunoglobulin therapy in 2 patients improved IgG levels but did not fully suppress the high levels of IgM, nor did it prevent late complications (bronchiectasis and sclerosing cholangitis). Diagnosis of a genetic immunodeficiency, especially an X-linked disease such as XHIGM syndrome, should prompt a survey of the entire family. Copyright 2006 S. Karger AG, Basel.

  15. Low genetic variation in the MHC class II DRB gene and MHC-linked microsatellites in endangered island populations of the leopard cat (Prionailurus bengalensis) in Japan.

    Science.gov (United States)

    Saka, Toshinori; Nishita, Yoshinori; Masuda, Ryuichi

    2018-02-01

    Isolated populations of the leopard cat (Prionailurus bengalensis) on Tsushima and Iriomote islands in Japan are classified as subspecies P. b. euptilurus and P. b. iriomotensis, respectively. Because both populations have decreased to roughly 100, an understanding of their genetic diversity is essential for conservation. We genotyped MHC class II DRB exon 2 and MHC-linked microsatellite loci to evaluate the diversity of MHC genes in the Tsushima and Iriomote cat populations. We detected ten and four DRB alleles in these populations, respectively. A phylogenetic analysis showed DRB alleles from both populations to be closely related to those in other felid DRB lineages, indicating trans-species polymorphism. The MHC-linked microsatellites were more polymorphic in the Tsushima than in the Iriomote population. The MHC diversity of both leopard cat populations is much lower than in the domestic cat populations on these islands, probably due to inbreeding associated with founder effects, geographical isolation, or genetic drift. Our results predict low resistance of the two endangered populations to new pathogens introduced to the islands.

  16. Genetic loci linked to pituitary-thyroid axis set points: a genome-wide scan of a large twin cohort.

    Science.gov (United States)

    Panicker, Vijay; Wilson, Scott G; Spector, Tim D; Brown, Suzanne J; Kato, Bernet S; Reed, Peter W; Falchi, Mario; Richards, J Brent; Surdulescu, Gabriela L; Lim, Ee M; Fletcher, Steven J; Walsh, John P

    2008-09-01

    Previous studies have shown that circulating concentrations of TSH, free T4, and free T3 are genetically regulated, but the genes responsible remain largely unknown. The aim of this study was to identify genetic loci associated with these parameters. We performed a multipoint, nonparametric genome-wide linkage scan of 613 female dizygotic twin pairs. All subjects were euthyroid (TSH 0.4-4.0 mU/liter) with negative thyroid peroxidase antibodies and no history of thyroid disease. The genome scan comprised 737 microsatellite markers supplemented with dinucleotide markers. Data were analyzed using residualized thyroid hormone data after adjustment for age, smoking, and body mass index. Multipoint linkage analysis gave linkage peaks for free T4 on chromosome 14q13 and 18q21 [logarithm of odds (LOD) 2.4-3.2]; TSH on chromosomes 2q36, 4q32, and 9q34 (LOD 2.1-3.2); and free T3 on chromosomes 7q36, 8q22, and 18q21 (LOD 2.0-2.3). This study has identified eight genomic locations with linkage of LOD of 2.0 or greater. These results should enable targeted positional candidate and positional cloning studies to advance our understanding of genetic control of the pituitary-thyroid axis.

  17. Genome-wide linkage analysis of 1233 prostate cancer pedigrees from the International Consortium for Prostate Cancer Genetics using novel sumLINK and sumLOD analyses

    Science.gov (United States)

    Christensen, G. Bryce; Baffoe-Bonnie, Agnes B.; George, Asha; Powell, Isaac; Bailey-Wilson, Joan E.; Carpten, John D.; Giles, Graham G.; Hopper, John L.; Severi, Gianluca; English, Dallas R.; Foulkes, William D.; Maehle, Lovise; Moller, Pal; Eeles, Ros; Easton, Douglas; Badzioch, Michael D.; Whittemore, Alice S.; Oakley-Girvan, Ingrid; Hsieh, Chih-Lin; Dimitrov, Latchezar; Xu, Jianfeng; Stanford, Janet L.; Johanneson, Bo; Deutsch, Kerry; McIntosh, Laura; Ostrander, Elaine A.; Wiley, Kathleen E.; Isaacs, Sarah D.; Walsh, Patrick C.; Isaacs, William B.; Thibodeau, Stephen N.; McDonnell, Shannon K.; Hebbring, Scott; Schaid, Daniel J.; Lange, Ethan M.; Cooney, Kathleen A.; Tammela, Teuvo L.J.; Schleutker, Johanna; Paiss, Thomas; Maier, Christiane; Grönberg, Henrik; Wiklund, Fredrik; Emanuelsson, Monica; Farnham, James M.; Cannon-Albright, Lisa A.; Camp, Nicola J.

    2012-01-01

    Background Prostate cancer is generally believed to have a strong inherited component, but the search for susceptibility genes has been hindered by the effects of genetic heterogeneity. The recently developed sumLINK and sumLOD statistics are powerful tools for linkage analysis in the presence of heterogeneity. Methods We performed a secondary analysis of 1233 prostate cancer pedigrees from the International Consortium for Prostate Cancer Genetics (ICPCG) using two novel statistics, the sumLINK and sumLOD. For both statistics, dominant and recessive genetic models were considered. False discovery rate (FDR) analysis was conducted to assess the effects of multiple testing. Results Our analysis identified significant linkage evidence at chromosome 22q12, confirming previous findings by the initial conventional analyses of the same ICPCG data. Twelve other regions were identified with genomewide suggestive evidence for linkage. Seven regions (1q23, 5q11, 5q35, 6p21, 8q12, 11q13, 20p11-q11) are near loci previously identified in the initial ICPCG pooled data analysis or the subset of aggressive prostate cancer (PC) pedigrees. Three other regions (1p12, 8p23, 19q13) confirm loci reported by others, and two (2p24, 6q27) are novel susceptibility loci. FDR testing indicates that over 70% of these results are likely true positive findings. Statistical recombinant mapping narrowed regions to an average of 9 cM. Conclusions Our results represent genomic regions with the greatest consistency of positive linkage evidence across a very large collection of high-risk prostate cancer pedigrees using new statistical tests that deal powerfully with heterogeneity. These regions are excellent candidates for further study to identify prostate cancer predisposition genes. PMID:20333727

  18. Central composite design and genetic algorithm applied for the optimization of ultrasonic-assisted removal of malachite green by ZnO Nanorod-loaded activated carbon

    Science.gov (United States)

    Ghaedi, M.; Azad, F. Nasiri; Dashtian, K.; Hajati, S.; Goudarzi, A.; Soylak, M.

    2016-10-01

    Maximum malachite green (MG) adsorption onto ZnO Nanorod-loaded activated carbon (ZnO-NR-AC) was achieved following the optimization of conditions, while the mass transfer was accelerated by ultrasonic. The central composite design (CCD) and genetic algorithm (GA) were used to estimate the effect of individual variables and their mutual interactions on the MG adsorption as response and to optimize the adsorption process. The ZnO-NR-AC surface morphology and its properties were identified via FESEM, XRD and FTIR. The adsorption equilibrium isotherm and kinetic models investigation revealed the well fit of the experimental data to Langmuir isotherm and pseudo-second-order kinetic model, respectively. It was shown that a small amount of ZnO-NR-AC (with adsorption capacity of 20 mg g- 1) is sufficient for the rapid removal of high amount of MG dye in short time (3.99 min).

  19. Preschoolers' genetic, physiological, and behavioral sensitivity factors moderate links between parenting stress and child internalizing, externalizing, and sleep problems.

    Science.gov (United States)

    Davis, Molly; Thomassin, Kristel; Bilms, Joanie; Suveg, Cynthia; Shaffer, Anne; Beach, Steven R H

    2017-05-01

    This study examined three potential moderators of the relations between maternal parenting stress and preschoolers' adjustment problems: a genetic polymorphism-the short allele of the serotonin transporter (5-HTTLPR, ss/sl allele) gene, a physiological indicator-children's baseline respiratory sinus arrhythmia (RSA), and a behavioral indicator-mothers' reports of children's negative emotionality. A total of 108 mothers (M age  = 30.68 years, SD age  = 6.06) reported on their parenting stress as well as their preschoolers' (M age  = 3.50 years, SD age  = 0.51, 61% boys) negative emotionality and internalizing, externalizing, and sleep problems. Results indicated that the genetic sensitivity variable functioned according to a differential susceptibility model; however, the results involving physiological and behavioral sensitivity factors were most consistent with a diathesis-stress framework. Implications for prevention and intervention efforts to counter the effects of parenting stress are discussed. © 2017 Wiley Periodicals, Inc.

  20. Physical and genetic interactions link the yeast protein Zds1p with mRNA nuclear export.

    Science.gov (United States)

    Estruch, Francisco; Hodge, Christine A; Rodríguez-Navarro, Susana; Cole, Charles N

    2005-03-11

    Eukaryotic gene expression requires the export of mRNA from the nucleus to the cytoplasm. The DEAD box protein Dbp5p is an essential export factor conserved from yeast to man. A fraction of Dbp5p forms a complex with nucleoporins of the cytoplasmic filaments of the nuclear pore complex. Gfd1p was identified originally as a multicopy suppressor of the rat8-2 ts allele of DBP5. Here we reported that Dbp5p and Gfd1p interact with Zds1p, a protein previously identified as a multicopy suppressor in several yeast genetic screens. By using the two-hybrid system, we showed that Zds1p interacts in vivo with both Gfd1p and Dbp5p. In vitro binding experiments revealed that Gfd1p and Dbp5p bind directly to the C-terminal part of Zds1p. In addition, ZDS1 interacted genetically with mutant alleles of genes encoding key factors in mRNA export, including DBP5 and MEX67. Furthermore, deletion of ZDS1 or of both ZDS1 and the closely related ZDS2 exacerbated the poly(A)+ export defects shown by dbp5-2 and mex67-5 mutants. We proposed that Zds1p associates with the complex formed by Dbp5p, Gfd1p, and nucleoporins at the cytosolic fibrils of the nuclear pore complex and is required for optimal mRNA export.

  1. Watershed model calibration framework developed using an influence coefficient algorithm and a genetic algorithm and analysis of pollutant discharge characteristics and load reduction in a TMDL planning area.

    Science.gov (United States)

    Cho, Jae Heon; Lee, Jong Ho

    2015-11-01

    Manual calibration is common in rainfall-runoff model applications. However, rainfall-runoff models include several complicated parameters; thus, significant time and effort are required to manually calibrate the parameters individually and repeatedly. Automatic calibration has relative merit regarding time efficiency and objectivity but shortcomings regarding understanding indigenous processes in the basin. In this study, a watershed model calibration framework was developed using an influence coefficient algorithm and genetic algorithm (WMCIG) to automatically calibrate the distributed models. The optimization problem used to minimize the sum of squares of the normalized residuals of the observed and predicted values was solved using a genetic algorithm (GA). The final model parameters were determined from the iteration with the smallest sum of squares of the normalized residuals of all iterations. The WMCIG was applied to a Gomakwoncheon watershed located in an area that presents a total maximum daily load (TMDL) in Korea. The proportion of urbanized area in this watershed is low, and the diffuse pollution loads of nutrients such as phosphorus are greater than the point-source pollution loads because of the concentration of rainfall that occurs during the summer. The pollution discharges from the watershed were estimated for each land-use type, and the seasonal variations of the pollution loads were analyzed. Consecutive flow measurement gauges have not been installed in this area, and it is difficult to survey the flow and water quality in this area during the frequent heavy rainfall that occurs during the wet season. The Hydrological Simulation Program-Fortran (HSPF) model was used to calculate the runoff flow and water quality in this basin. Using the water quality results, a load duration curve was constructed for the basin, the exceedance frequency of the water quality standard was calculated for each hydrologic condition class, and the percent reduction

  2. Dynamic link: user's manual

    International Nuclear Information System (INIS)

    Harada, Hiroo; Asai, Kiyoshi; Kihara, Kazuhisa.

    1981-09-01

    The purpose of dynamic link facility is to link a load module dynamically only when it is used in execution time. The facility is very useful for development, execution and maintenance of a large scale computer program which is too big to be saved as one load module in main memory, or it is poor economy to save it due to many unused subroutines depending on an input. It is also useful for standardization and common utilization of programs. Standard usage of dynamic link facility of FACOM M-200 computer system, a software tool which analyzes the effect of dynamic link facility and application of dynamic link to nuclear codes are described. (author)

  3. Prediction of crack growth direction by Strain Energy Sih's Theory on specimens SEN under tension-compression biaxial loading employing Genetic Algorithms

    International Nuclear Information System (INIS)

    Rodriguez-MartInez R; Lugo-Gonzalez E; Urriolagoitia-Calderon G; Urriolagoitia-Sosa G; Hernandez-Gomez L H; Romero-Angeles B; Torres-San Miguel Ch

    2011-01-01

    Crack growth direction has been studied in many ways. Particularly Sih's strain energy theory predicts that a fracture under a three-dimensional state of stress spreads in direction of the minimum strain energy density. In this work a study for angle of fracture growth was made, considering a biaxial stress state at the crack tip on SEN specimens. The stress state applied on a tension-compression SEN specimen is biaxial one on crack tip, as it can observed in figure 1. A solution method proposed to obtain a mathematical model considering genetic algorithms, which have demonstrated great capacity for the solution of many engineering problems. From the model given by Sih one can deduce the density of strain energy stored for unit of volume at the crack tip as dW = [1/2E(σ 2 x + σ 2 y ) - ν/E(σ x σy)]dV (1). From equation (1) a mathematical deduction to solve in terms of θ of this case was developed employing Genetic Algorithms, where θ is a crack propagation direction in plane x-y. Steel and aluminium mechanical properties to modelled specimens were employed, because they are two of materials but used in engineering design. Obtained results show stable zones of fracture propagation but only in a range of applied loading.

  4. Deficient Peptide Loading and MHC Class II Endosomal Sorting in a Human Genetic Immunodeficiency Disease: the Chediak-Higashi Syndrome

    Science.gov (United States)

    Faigle, Wolfgang; Raposo, Graça; Tenza, Daniele; Pinet, Valérie; Vogt, Anne B.; Kropshofer, Harald; Fischer, Alain; de Saint-Basile, Geneviève; Amigorena, Sebastian

    1998-01-01

    The Chediak-Higashi syndrome (CHS) is a human recessive autosomal disease caused by mutations in a single gene encoding a protein of unknown function, called lysosomal-trafficking regulator. All cells in CHS patients bear enlarged lysosomes. In addition, T- and natural killer cell cytotoxicity is defective in these patients, causing severe immunodeficiencies. We have analyzed major histocompatibility complex class II functions and intracellular transport in Epstein Barr Virus–transformed B cells from CHS patients. Peptide loading onto major histocompatibility complex class II molecules and antigen presentation are strongly delayed these cells. A detailed electron microscopy analysis of endocytic compartments revealed that only lysosomal multilaminar compartments are enlarged (reaching 1–2 μm), whereas late multivesicular endosomes have normal size and morphology. In contrast to giant multilaminar compartments that bear most of the usual lysosomal markers in these cells (HLA-DR, HLA-DM, Lamp-1, CD63, etc.), multivesicular late endosomes displayed reduced levels of all these molecules, suggesting a defect in transport from the trans-Golgi network and/or early endosomes into late multivesicular endosomes. Further insight into a possible mechanism of this transport defect came from immunolocalizing the lysosomal trafficking regulator protein, as antibodies directed to a peptide from its COOH terminal domain decorated punctated structures partially aligned along microtubules. These results suggest that the product of the Lyst gene is required for sorting endosomal resident proteins into late multivesicular endosomes by a mechanism involving microtubules. PMID:9606205

  5. Genetic analysis of autoimmune gld mice. I. Identification of a restriction fragment length polymorphism closely linked to the gld mutation within a conserved linkage group

    Science.gov (United States)

    1988-01-01

    A linkage map of distal mouse chromosome 1 was generated using restriction fragment length polymorphism (RFLP) analysis of DNA prepared from 95 [C3H-gld/gld X Mus spretus)F1 X C3H-gld/gld] backcross mice. The gene order was: (centromere) C4bp, Ren-1,2, Ly-5, [At-3/gld], Apoa-2/Ly-17, Spna-1 (telomere). All mice expressing the phenotype of gld homozygotes were homozygous for the At-3 RFLP characteristic of C3H mice and none of the mice heterozygous for At-3 RFLPs had characteristics of gld homozygotes, demonstrating close linkage between these genes. The identification of an RFLP closely linked to the gld gene provides a starting point for the identification of a genetic defect that results in abnormal T cells and autoimmune disease. PMID:2894402

  6. Genetic localisation of MRX27 to Xq24-26 defines another discrete gene for non-specific X-linked mental retardation

    Energy Technology Data Exchange (ETDEWEB)

    Gedeon, A.K.; Connor, J.M.; Mulley, J.C. [Univ. of Adelaide (Australia); Connor, J.M. [Duncan Guthrie Inst. of Medical Genetics, Yorkhill (United Kingdom); Glass, I.A. [Univ. of California, San Franciso, CA (United States)

    1996-07-12

    A large family with non-specific X-linked mental retardation (MRX) was first described in 1991, with a suggestion of linkage to Xq26-27. The maximum lod score was 1.60 ({theta} = 0.10) with the F9 locus. The localization of this MRX gene has now been established by linkage to microsatellite markers. Peak pairwise lod scores of 4.02 and 4.01 ({theta} = 0.00) were attained at the DXS1114 and DXS994 loci respectively. This MRX gene is now designated MRX27 and is localized to Xq24-26 by recombination events detected by DXS424 and DXS102. This regional localization spans 26.2 cM on the genetic background map and defines another distinct MRX interval by linkage to a specific region of the X chromosome. 25 refs., 1 fig., 1 tab.

  7. X-linked Charcot-Marie-Tooth (CMT) neuropathies (CMTX1, CMTX2, CMTX3) show different clinical phenotype and molecular genetics

    Energy Technology Data Exchange (ETDEWEB)

    Ionasescu, V.V.; Searby, C.C.; Ionasescu, R. [Univ. of Iowa Hospitals and Clinics, Iowa City, IA (United States)

    1994-09-01

    The purpose of this study was to compare the X-linked dominant type CMTX1 (20 families) with X-linked recessive types CMTX2 and CMTX3 (2 families). The clinical phenotype was consistent with CMT peripheral neuropathy in all cases including distal weakness, atrophy and sensory loss, pes cavus and areflexia. Additional clinicial involvement of the central nervous system was present in one family with CMTX2 (mental retardation) and one family with CMTX3 (spastic paraparesis). Tight genetic linkage to Xq13.1 was present in 20 families with CMTX1 (Z=34.07 at {theta}=0) for the marker DXS453. Fifteen of the CMTX1 families showed point mutations of the connexin 32 coding region (5 nonsense mutations, 8 missense mutations, 2 deletions). Five CMTX1 neuropathy families showed no evidence of point mutations of the CX32 coding sequence. These findings suggest that the CMTX1 neuropathy genotype in these families may be the result of promoter mutations, 3{prime}-untranslated region mutations or exon/intron splice site mutations or a mutation with a different type of connexin but which has close structural similarities to CX32. No mutations of the CX32 coding region were found in the CMTX2 or CMTX3 families. Linkage to Xq13.1 was excluded in both families. Genetic linkage to Xp22.2 was present in the CMTX2 family (Z=3.54 at {theta}=0) for the markers DXS987 and DXS999. Suggestion of linkage to Xq26 (Z=1.81 at {theta}=0) for the marker DXS86 was present in the CMTX3 family.

  8. Radiation cross-linked carboxymethyl sago pulp hydrogels loaded with ciprofloxacin: Influence of irradiation on gel fraction, entrapped drug and in vitro release

    Science.gov (United States)

    Lam, Yi Lyn; Muniyandy, Saravanan; Kamaruddin, Hashim; Mansor, Ahmad; Janarthanan, Pushpamalar

    2015-01-01

    Carboxymethyl sago pulp (CMSP) with 0.4 DS, viscosity 184 dl/g and molecular weight 76,000 g/mol was synthesized from sago waste. 10 and 20% w/v solutions of CMSP were irradiated at 10-30 kGy to form hydrogels and were characterized by % gel fraction (GF). Irradiation of 20% CMSP using 25 kGy has produced stable hydrogels with the highest % GF and hence loaded with ciprofloxacin HCl. Drug-loaded hydrogels were produced by irradiating the mixture of drug and 20% CMSP solution at 25 kGy. After irradiation, the hydrogels were cut into circular discs with a diameter of 6±1 mm and evaluated for physicochemical properties as well as drug release kinetics. The ciprofloxacin loading in the disc was 14.7%±1 w/w with an entrapment efficiency of 73.5% w/w. The low standard deviation of drug-loaded discs indicated uniform thickness (1.5±0.3 mm). The unloaded discs were thinner (1±0.4 mm) and more brittle than the drug-loaded discs. FESEM, FT-IR, XRD, DSC and TGA analysis revealed the absence of polymer-drug interaction and transformation of crystalline to amorphous form of ciprofloxacin in the discs. The disc sustained the drug release in phosphate buffer pH 7.4 over 36 h in a first-order manner. The mechanism of the drug release was found to be swelling controlled diffusion and matrix erosion. The anti-bacterial effect of ciprofloxacin was retained after irradiation and CMSP disc could be a promising device for ocular drug delivery.

  9. Genetic forms of nephrogenic diabetes insipidus (NDI): Vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant).

    Science.gov (United States)

    Bichet, Daniel G; Bockenhauer, Detlef

    2016-03-01

    Nephrogenic diabetes insipidus (NDI), which can be inherited or acquired, is characterized by an inability to concentrate urine despite normal or elevated plasma concentrations of the antidiuretic hormone, arginine vasopressin (AVP). Polyuria with hyposthenuria and polydipsia are the cardinal clinical manifestations of the disease. About 90% of patients with congenital NDI are males with X-linked NDI who have mutations in the vasopressin V2 receptor (AVPR2) gene encoding the vasopressin V2 receptor. In less than 10% of the families studied, congenital NDI has an autosomal recessive or autosomal dominant mode of inheritance with mutations in the aquaporin-2 (AQP2) gene. When studied in vitro, most AVPR2 and AQP2 mutations lead to proteins trapped in the endoplasmic reticulum and are unable to reach the plasma membrane. Prior knowledge of AVPR2 or AQP2 mutations in NDI families and perinatal mutation testing is of direct clinical value and can avert the physical and mental retardation associated with repeated episodes of dehydration. Copyright © 2016 Elsevier Ltd. All rights reserved.

  10. Potential link between genetic polymorphisms of catechol-O-methyltransferase and dopamine receptors and treatment efficacy of risperidone on schizophrenia

    Directory of Open Access Journals (Sweden)

    Han JY

    2017-12-01

    Full Text Available Jiyang Han,1 Yan Li,2 Xumei Wang1 1Department of Psychiatry, Shengjing Hospital of China Medical University, Shenyang, Liaoning, China; 2Department of Cell Biology, Key Laboratory of Cell Biology, Ministry of Public Health, China Medical University, Shenyang, Liaoning, China Objective: The current study aimed to explore the association of single nucleotide polymorphisms (SNPs within catechol-O-methyltransferase (COMT and dopamine receptors with schizophrenia and genetic association with risperidone treatment response.Methods: A total of 690 schizophrenic patients (case group were selected and 430 healthy people were included as the controls. All patients received risperidone treatment continuously for 8 weeks. Next, peripheral venous blood samples were collected and were subjected to polymerase chain reaction-restriction fragment length polymorphism to amplify and genotype the SNPs within COMT and dopamine receptors. Then, correlation analysis was conducted between Positive and Negative Syndrome Scale improvement rates and SNPs within COMT and the dopamine receptor gene.Results: The allele of DRD1 rs11749676 (A emerged as a key element in reducing schizophrenia risk with statistical significance (P<0.001. Remarkably, alleles of COMT rs165774 (G, DRD2 rs6277 (T, and DRD3 rs6280 (C were associated with raised predisposition to schizophrenia (all P<0.001. Regarding DRD1 rs11746641, DRD1 rs11749676, DRD2 rs6277, and DRD3 rs6280, the case group exhibited a lesser frequency of heterozygotes in comparison with wild homozygotes genotype (all P<0.001. SNPs (COMT rs4680, DRD2 rs6275, DRD2 rs1801028, and DRD2 rs6277 were remarkably associated with improvement rates of PANSS total scores (P<0.05. SNPs (COMT rs165599 and DRD2 rs1801028 were significantly associated with risperidone efficacy on negative symptoms (P<0.05.Conclusion: COMT SNPs and dopamine receptor SNPs were correlated with prevalence of schizophrenia and risperidone treatment efficacy of

  11. A genetic link between magnetite mineralization and diorite intrusion at the El Romeral iron oxide-apatite deposit, northern Chile

    Science.gov (United States)

    Rojas, Paula A.; Barra, Fernando; Reich, Martin; Deditius, Artur; Simon, Adam; Uribe, Francisco; Romero, Rurik; Rojo, Mario

    2018-01-01

    El Romeral is one of the largest iron oxide-apatite (IOA) deposits in the Coastal Cordillera of northern Chile. The Cerro Principal magnetite ore body at El Romeral comprises massive magnetite intergrown with actinolite, with minor apatite, scapolite, and sulfides (pyrite ± chalcopyrite). Several generations of magnetite were identified by using a combination of optical and electron microscopy techniques. The main mineralization event is represented by zoned magnetite grains with inclusion-rich cores and inclusion-poor rims, which form the massive magnetite ore body. This main magnetite stage was followed by two late hydrothermal events that are represented by magnetite veinlets that crosscut the massive ore body and by disseminated magnetite in the andesite host rock and in the Romeral diorite. The sulfur stable isotope signature of the late hydrothermal sulfides indicates a magmatic origin for sulfur (δ34S between - 0.8 and 2.9‰), in agreement with previous δ34S data reported for other Chilean IOA and iron oxide-copper-gold deposits. New 40Ar/39Ar dating of actinolite associated with the main magnetite ore stage yielded ages of ca. 128 Ma, concordant within error with a U-Pb zircon age for the Romeral diorite (129.0 ± 0.9 Ma; mean square weighted deviation = 1.9, n = 28). The late hydrothermal magnetite-biotite mineralization is constrained at ca. 118 Ma by 40Ar/39Ar dating of secondary biotite. This potassic alteration is about 10 Ma younger than the main mineralization episode, and it may be related to post-mineralization dikes that crosscut and remobilize Fe from the main magnetite ore body. These data reveal a clear genetic association between magnetite ore formation, sulfide mineralization, and the diorite intrusion at El Romeral (at 129 Ma), followed by a late and more restricted stage of hydrothermal alteration associated with the emplacement of post-ore dikes at ca. 118 Ma. Therefore, this new evidence supports a magmatic-hydrothermal model for the

  12. Implications of MODIS impression of aerosol loading over urban and rural settlements in Nigeria: Possible links to energy consumption patterns in the country

    Science.gov (United States)

    Dom Onyeuwaoma, Nnaemeka

    2016-07-01

    A study of aerosol loading patterns in some selected cities in Nigeria was carried out using MODIS, TOMS/OMI AND AIRS satellite imageries for a period of 10 years. The results showed that an aerosol optical depth (AOD) loading obtained ranged from 0.02-0.9, UV aerosol index (AI) and carbon monoxide (CO) results ranged from 1.32- 2.43 and 2.22-2.6 molecule/cm2, respectively. The CO data was used to infer the presence of carbonecous aerosols from biomass, fossil combustion and industrial activities. This result indicates that areas with higher AOD and AI do not correspond in high CO loading. From the HYSPLIT and HAT analysis conducted it showed that advection plays important role in the dispersion of aerosols. This implies that aerosols can reside in a place remote from where they are generated. Also, the high concentration of CO aerosol in the southern cities suggests a high rate of industrial pollution as a result of fossil fuel burning, vehicular emissions, high population density and gas flaring. Therefore, emphasis should be on the need to switch to renewable energy options as an alternative to fossil fuel. Furthermore, plans for mitigations should not be limited to industrialized cities only but extended to other cities which might be bearing the real brunt of industrial emissions as shown in this work.

  13. Cognitive Load and Cooperation

    DEFF Research Database (Denmark)

    Døssing, Felix Sebastian; Piovesan, Marco; Wengström, Erik Roland

    2017-01-01

    We study the effect of intuitive and reflective processes on cooperation using cognitive load. Compared with time constraint, which has been used in the previous literature, cognitive load is a more direct way to block reflective processes, and thus a more suitable way to study the link between...... intuition and cooperation. Using a repeated public goods game, we study the effect of different levels of cognitive load on contributions. We show that a higher cognitive load increases the initial level of cooperation. In particular, subjects are significantly less likely to fully free ride under high...... cognitive load....

  14. The incidence of genetic disorders in children and young adults

    International Nuclear Information System (INIS)

    Anderson, T.W.; Baird, P.A.; Lowry, R.B.; Newcombe, H.B.

    1987-11-01

    Current estimates of the genetic risks from exposure to ionizing radiation are based on two kinds of data: a) incidence rates in humans for the genetic diseases that are believed to be present in the population due to mutations of natural origin, and b) radiation induced mutation rates. One necessary prerequisite before any possible increase in genetic load from mutagens can be estimated is baseline information on the magnitude of genetically-caused ill health already present in the population. The present study utilizes the data base of an ongoing population-based Registry with multiple sources of ascertainment to estimate the present population load from genetic disease. It was found that 4.9% of liveborn individuals below 25 can be expected to have genetic or partly genetic diseases. This was composed of single-gene disorders (autosomal dominant, autosomal recessive and X-linked recessive), chromosomal anomalies and multifactorial disorders (including those present at birth and those later in onset). Since previous studies have usually considered all congenital anomalies (ICD 740-759) as part of the genetic load, data are also presented separately for this category to facilitate comparison with earlier studies. These new data should represent a better estimate of the genetic load in the population than previous studies

  15. Single-Tube Dodecaplex PCR Panel of Polymorphic Microsatellite Markers Closely Linked to theDMPKCTG Repeat for Preimplantation Genetic Diagnosis of Myotonic Dystrophy Type 1.

    Science.gov (United States)

    Lian, Mulias; Zhao, Mingjue; Lee, Caroline G; Chong, Samuel S

    2017-06-01

    Preimplantation genetic diagnosis (PGD) of myotonic dystrophy type 1 (DM1) currently uses conventional PCR to detect nonexpanded dystrophia myotonica protein kinase ( DMPK ) alleles or triplet-primed PCR to detect the CTG-expanded alleles, coupled with analysis of linked microsatellite markers to increase diagnostic accuracy. We aimed to simplify the process of identification and selection of informative linked markers for application to DM1 PGD. An in silico search was performed to identify all markers within 1-1.5 Mb flanking the DMPK gene. Five previously known (D19S559, APOC2, D19S543, D19S112, and BV209569) and 7 novel (DM45050, DM45178, DM45209, DM45958, DM46513, DM46892, and DM47004.1) markers with potentially high heterozygosity values and polymorphism information content were selected and optimized in a single-tube multiplex PCR panel. Analysis of 184 DNA samples of Chinese and Caucasian individuals (91 from unrelated, anonymized cord blood of Chinese babies born at the National University Hospital, Singapore, and 93 Caucasian DNA samples from the Human Variation Panel HD100CAU) confirmed the high polymorphism indices of all markers (polymorphism information content >0.5), with observed heterozygosity values ranging from 0.62-0.93. All individuals were heterozygous for at least 6 markers, with 99.5% of individuals heterozygous for at least 2 markers on either side of the DMPK CTG repeat. The dodecaplex marker assay was successfully validated on 42 single cells and 12 whole genome amplified single cells. The DM1 multiplex PCR panel is suitable for use in DM1 PGD either as a standalone linkage-based assay or as a complement to DMPK CTG repeat expansion-mutation detection. © 2017 American Association for Clinical Chemistry.

  16. Genetics Home Reference: leprosy

    Science.gov (United States)

    ... 2 links) Encyclopedia: Leprosy Health Topic: Mycobacterial Infections Genetic and Rare Diseases Information Center (1 link) Hansen's disease Additional NIH Resources (1 link) National Institute of Allergy and Infectious Diseases (NIAID): Leprosy (Hansen's Disease) Educational Resources (8 ...

  17. Application of an Additional Controllable Load (ACL) with chopper connected to the Direct Current Link (DCL) of an autonomous Wind Energy Power System (WEPS)

    Science.gov (United States)

    Smets, A. H. A. M.

    1984-05-01

    An ACL consisting of a (fast) thyristor chopper with indirect commutation and loaded by a resistor is described. The ACL provides a reduction of grid voltage distortions, reactive power of the WEPS diesel generator, and the amplitude of higher harmonic currents in the autonomous grid. Ripple currents in the DCL are limited by the connection between chopper and DCL. An additional choke is connected in series with the existing choke in the DCL. Chopper and a smoothing capacitor were connected with one pole to the junction of both chokes. A resonance circuit is formed using chokes and capacitor. The resonance frequency is chosen such that no impermissible oscillations occur in the DCL. Equations to calculate components of the DCL and chopper for their dimensioning were derived. In an experimental set-up consisting of a part of the WEPS, measurements were carried out.

  18. Multi-proxy evidence of long-term changes in ecosystem structure in a Danish marine estuary, linked to increased nutrient loading

    DEFF Research Database (Denmark)

    Ellegaard, Marianne; Clarke, A.L.; Reuss, Nina Steenberg

    2006-01-01

    and prompting debate on the causes. This paper reports a multi-proxy survey of 210Pb-dated sediment cores from the anoxic basin. Analyses of diatoms, dinoflagellates, pigments and geochemical proxies were used to determine changes in ecosystem structure over the past 100 years. The aim was to establish ‘base......-line conditions', for management purposes, of the biological structure prior to 1900, and to examine possible causes of changes observed. Geochemical proxies total nitrogen (TN), total carbon (TC) and biogenic silica (BSi) were consistently high throughout the sediment record. Increased concentrations of pigments...... and natural isotopes (d13C, d15N) suggested increasing production and nutrient loading. The main changes in the biological proxies occurred between 1915 and the 1940s, and indicated that the estuary has been somewhat eutrophic since 1900, but that the eutrophication process increased over the past 100 years...

  19. Genetics Home Reference: hereditary hyperekplexia

    Science.gov (United States)

    ... the nose, extend their head forward and have spasms of the limb and neck muscles. Rarely, infants ... Genetic Testing (5 links) Genetic Testing Registry: Early infantile epileptic encephalopathy 8 Genetic Testing Registry: Hyperekplexia Genetic ...

  20. mtDNA from the early Bronze Age to the Roman period suggests a genetic link between the Indian subcontinent and Mesopotamian cradle of civilization.

    Science.gov (United States)

    Witas, Henryk W; Tomczyk, Jacek; Jędrychowska-Dańska, Krystyna; Chaubey, Gyaneshwer; Płoszaj, Tomasz

    2013-01-01

    Ancient DNA methodology was applied to analyse sequences extracted from freshly unearthed remains (teeth) of 4 individuals deeply deposited in slightly alkaline soil of the Tell Ashara (ancient Terqa) and Tell Masaikh (ancient Kar-Assurnasirpal) Syrian archaeological sites, both in the middle Euphrates valley. Dated to the period between 2.5 Kyrs BC and 0.5 Kyrs AD the studied individuals carried mtDNA haplotypes corresponding to the M4b1, M49 and/or M61 haplogroups, which are believed to have arisen in the area of the Indian subcontinent during the Upper Paleolithic and are absent in people living today in Syria. However, they are present in people inhabiting today's Tibet, Himalayas, India and Pakistan. We anticipate that the analysed remains from Mesopotamia belonged to people with genetic affinity to the Indian subcontinent since the distribution of identified ancient haplotypes indicates solid link with populations from the region of South Asia-Tibet (Trans-Himalaya). They may have been descendants of migrants from much earlier times, spreading the clades of the macrohaplogroup M throughout Eurasia and founding regional Mesopotamian groups like that of Terqa or just merchants moving along trade routes passing near or through the region. None of the successfully identified nuclear alleles turned out to be ΔF508 CFTR, LCT-13910T or Δ32 CCR5.

  1. Inclusive Fitness Affects Both Prosocial and Antisocial Behavior: Target Gender and Insult Domain Moderate the Link between Genetic Relatedness and Aggression

    Directory of Open Access Journals (Sweden)

    Amanda N. Gesselman

    2012-10-01

    Full Text Available Although prior research has examined the relationship between genetic relatedness and helping behavior (Burnstein, Crandall, and Kitayama, 1994, less is known about its role in aggressive responses to insults (Fitzgerald and Ketterer, 2011. Drawing on inclusive fitness theory (Hamilton, 1964 and the Kinship, Acceptance, and Rejection Model of Altruism and Aggression (KARMAA; Webster, 2008; Webster et al., 2012, we designed a 2 (participant gender × 2 (target gender × 2 (insult: status vs. reproductive × 3 (relatedness: stranger vs. cousin vs. sibling between-person experiment in which 489 participants (a read vignettes in which a stranger, cousin, or sibling was insulted and (b reported their emotional reaction and retaliation likelihood (six-item α= .91 in response to the insult. Consistent with theory and prior research, men were significantly more aggressive than women, and people were significantly more aggressive responding to insults against kin than non-kin. These findings support theoretically-derived, dynamic, and domain-specific links among insults, gender, relatedness, and aggression.

  2. mtDNA from the early Bronze Age to the Roman period suggests a genetic link between the Indian subcontinent and Mesopotamian cradle of civilization.

    Directory of Open Access Journals (Sweden)

    Henryk W Witas

    Full Text Available Ancient DNA methodology was applied to analyse sequences extracted from freshly unearthed remains (teeth of 4 individuals deeply deposited in slightly alkaline soil of the Tell Ashara (ancient Terqa and Tell Masaikh (ancient Kar-Assurnasirpal Syrian archaeological sites, both in the middle Euphrates valley. Dated to the period between 2.5 Kyrs BC and 0.5 Kyrs AD the studied individuals carried mtDNA haplotypes corresponding to the M4b1, M49 and/or M61 haplogroups, which are believed to have arisen in the area of the Indian subcontinent during the Upper Paleolithic and are absent in people living today in Syria. However, they are present in people inhabiting today's Tibet, Himalayas, India and Pakistan. We anticipate that the analysed remains from Mesopotamia belonged to people with genetic affinity to the Indian subcontinent since the distribution of identified ancient haplotypes indicates solid link with populations from the region of South Asia-Tibet (Trans-Himalaya. They may have been descendants of migrants from much earlier times, spreading the clades of the macrohaplogroup M throughout Eurasia and founding regional Mesopotamian groups like that of Terqa or just merchants moving along trade routes passing near or through the region. None of the successfully identified nuclear alleles turned out to be ΔF508 CFTR, LCT-13910T or Δ32 CCR5.

  3. FMR1 CGG repeat expansion mutation detection and linked haplotype analysis for reliable and accurate preimplantation genetic diagnosis of fragile X syndrome.

    Science.gov (United States)

    Rajan-Babu, Indhu-Shree; Lian, Mulias; Cheah, Felicia S H; Chen, Min; Tan, Arnold S C; Prasath, Ethiraj B; Loh, Seong Feei; Chong, Samuel S

    2017-07-19

    Fragile X mental retardation 1 (FMR1) full-mutation expansion causes fragile X syndrome. Trans-generational fragile X syndrome transmission can be avoided by preimplantation genetic diagnosis (PGD). We describe a robust PGD strategy that can be applied to virtually any couple at risk of transmitting fragile X syndrome. This novel strategy utilises whole-genome amplification, followed by triplet-primed polymerase chain reaction (TP-PCR) for robust detection of expanded FMR1 alleles, in parallel with linked multi-marker haplotype analysis of 13 highly polymorphic microsatellite markers located within 1 Mb of the FMR1 CGG repeat, and the AMELX/Y dimorphism for gender identification. The assay was optimised and validated on single lymphoblasts isolated from fragile X reference cell lines, and applied to a simulated PGD case and a clinical in vitro fertilisation (IVF)-PGD case. In the simulated PGD case, definitive diagnosis of the expected results was achieved for all 'embryos'. In the clinical IVF-PGD case, delivery of a healthy baby girl was achieved after transfer of an expansion-negative blastocyst. FMR1 TP-PCR reliably detects presence of expansion mutations and obviates reliance on informative normal alleles for determining expansion status in female embryos. Together with multi-marker haplotyping and gender determination, misdiagnosis and diagnostic ambiguity due to allele dropout is minimised, and couple-specific assay customisation can be avoided.

  4. Linking Assessment Questions to a Research Article to Stimulate Self-directed Learning and Develop High-order Cognitive Skills in an Undergraduate Module of Molecular Genetics

    Science.gov (United States)

    2009-01-01

    Assessment plays a crucial role in the learning process, but current assessments focus on assessment of learning rather than assessment for learning. In this study, a novel method for open-book continuous assessment (CA) was developed. The aim was to encourage students to learn beyond the textbook by challenging students with questions linked to a research article. Research articles closely related to lecture contents were selected and released to students before the CA for perusal. CA questions were set at three different levels to assess conceptual understanding, application, and synthesis. The CA was administered to first-year undergraduate students majoring in life science as part of Molecular Genetics, a compulsory module. It contributed 10% of the student's grade for the module. Students’ CA scores indicated that the majority could answer correctly all the questions. Students’ feedback on the CA showed that most of them praised the CA model for its novelty, motivation, and application. Only a few criticized it due to its poor coverage of lecture contents. Overall, this CA went beyond the traditional role of assessments in the assignment of scores and stimulated curiosity and self-directed learning. PMID:19952097

  5. Genetics and mapping of the R₁₁ gene conferring resistance to recently emerged rust races, tightly linked to male fertility restoration, in sunflower (Helianthus annuus L.).

    Science.gov (United States)

    Qi, L L; Seiler, G J; Vick, B A; Gulya, T J

    2012-09-01

    Sunflower oil is one of the major sources of edible oil. As the second largest hybrid crop in the world, hybrid sunflowers are developed by using the PET1 cytoplasmic male sterility system that contributes to a 20 % yield advantage over the open-pollinated varieties. However, sunflower production in North America has recently been threatened by the evolution of new virulent pathotypes of sunflower rust caused by the fungus Puccinia helianthi Schwein. Rf ANN-1742, an 'HA 89' backcross restorer line derived from wild annual sunflower (Helianthus annuus L.), was identified as resistant to the newly emerged rust races. The aim of this study was to elucidate the inheritance of rust resistance and male fertility restoration and identify the chromosome location of the underlying genes in Rf ANN-1742. Chi-squared analysis of the segregation of rust response and male fertility in F(2) and F(3) populations revealed that both traits are controlled by single dominant genes, and that the rust resistance gene is closely linked to the restorer gene in the coupling phase. The two genes were designated as R ( 11 ) and Rf5, respectively. A set of 723 mapped SSR markers of sunflower was used to screen the polymorphism between HA 89 and the resistant plant. Bulked segregant analysis subsequently located R ( 11 ) on linkage group (LG) 13 of sunflower. Based on the SSR analyses of 192 F(2) individuals, R ( 11 ) and Rf5 both mapped to the lower end of LG13 at a genetic distance of 1.6 cM, and shared a common marker, ORS728, which was mapped 1.3 cM proximal to Rf5 and 0.3 cM distal to R ( 11 ) (Rf5/ORS728/R ( 11 )). Two additional SSRs were linked to Rf5 and R ( 11 ): ORS995 was 4.5 cM distal to Rf5 and ORS45 was 1.0 cM proximal to R ( 11 ). The advantage of such an introduced alien segment harboring two genes is its large phenotypic effect and simple inheritance, thereby facilitating their rapid deployment in sunflower breeding programs. Suppressed recombination was observed in LGs 2, 9

  6. Ethanol mediated As(III) adsorption onto Zn-loaded pinecone biochar: Experimental investigation, modeling, and optimization using hybrid artificial neural network-genetic algorithm approach.

    Science.gov (United States)

    Zafar, Mohd; Van Vinh, N; Behera, Shishir Kumar; Park, Hung-Suck

    2017-04-01

    Organic matters (OMs) and their oxidization products often influence the fate and transport of heavy metals in the subsurface aqueous systems through interaction with the mineral surfaces. This study investigates the ethanol (EtOH)-mediated As(III) adsorption onto Zn-loaded pinecone (PC) biochar through batch experiments conducted under Box-Behnken design. The effect of EtOH on As(III) adsorption mechanism was quantitatively elucidated by fitting the experimental data using artificial neural network and quadratic modeling approaches. The quadratic model could describe the limiting nature of EtOH and pH on As(III) adsorption, whereas neural network revealed the stronger influence of EtOH (64.5%) followed by pH (20.75%) and As(III) concentration (14.75%) on the adsorption phenomena. Besides, the interaction among process variables indicated that EtOH enhances As(III) adsorption over a pH range of 2 to 7, possibly due to facilitation of ligand-metal(Zn) binding complexation mechanism. Eventually, hybrid response surface model-genetic algorithm (RSM-GA) approach predicted a better optimal solution than RSM, i.e., the adsorptive removal of As(III) (10.47μg/g) is facilitated at 30.22mg C/L of EtOH with initial As(III) concentration of 196.77μg/L at pH5.8. The implication of this investigation might help in understanding the application of biochar for removal of various As(III) species in the presence of OM. Copyright © 2016. Published by Elsevier B.V.

  7. A Syntenic Cross Species Aneuploidy Genetic Screen Links RCAN1 Expression to β-Cell Mitochondrial Dysfunction in Type 2 Diabetes.

    Directory of Open Access Journals (Sweden)

    Heshan Peiris

    2016-05-01

    Full Text Available Type 2 diabetes (T2D is a complex metabolic disease associated with obesity, insulin resistance and hypoinsulinemia due to pancreatic β-cell dysfunction. Reduced mitochondrial function is thought to be central to β-cell dysfunction. Mitochondrial dysfunction and reduced insulin secretion are also observed in β-cells of humans with the most common human genetic disorder, Down syndrome (DS, Trisomy 21. To identify regions of chromosome 21 that may be associated with perturbed glucose homeostasis we profiled the glycaemic status of different DS mouse models. The Ts65Dn and Dp16 DS mouse lines were hyperglycemic, while Tc1 and Ts1Rhr mice were not, providing us with a region of chromosome 21 containing genes that cause hyperglycemia. We then examined whether any of these genes were upregulated in a set of ~5,000 gene expression changes we had identified in a large gene expression analysis of human T2D β-cells. This approach produced a single gene, RCAN1, as a candidate gene linking hyperglycemia and functional changes in T2D β-cells. Further investigations demonstrated that RCAN1 methylation is reduced in human T2D islets at multiple sites, correlating with increased expression. RCAN1 protein expression was also increased in db/db mouse islets and in human and mouse islets exposed to high glucose. Mice overexpressing RCAN1 had reduced in vivo glucose-stimulated insulin secretion and their β-cells displayed mitochondrial dysfunction including hyperpolarised membrane potential, reduced oxidative phosphorylation and low ATP production. This lack of β-cell ATP had functional consequences by negatively affecting both glucose-stimulated membrane depolarisation and ATP-dependent insulin granule exocytosis. Thus, from amongst the myriad of gene expression changes occurring in T2D β-cells where we had little knowledge of which changes cause β-cell dysfunction, we applied a trisomy 21 screening approach which linked RCAN1 to β-cell mitochondrial

  8. Ultrasensitive electrochemical immunosensor for PSA biomarker detection in prostate cancer cells using gold nanoparticles/PAMAM dendrimer loaded with enzyme linked aptamer as integrated triple signal amplification strategy.

    Science.gov (United States)

    Kavosi, Begard; Salimi, Abdollah; Hallaj, Rahman; Moradi, Fathollah

    2015-12-15

    In the present study, a triple signal amplification strategy was developed for ultrasensitive immunosensing of prostate-specific antigen (PSA) tumor marker. The proposed system was achieved by modification of glassy carbon electrode with graphene oxide/chitosan film and covalently attached of monoclonal PSA antibody and thionine as redox probe onto the modified electrode surface. Then, immunosensing was completed using sandwich-type immunoreaction of the PSA-antigen between anti-PSA immobilized on the graphene/chitosan interface and PSA-aptamer. For improve the sensitivity, polyamidoamine dendrimer-encapsulated gold nanoparticles (AuNPs-PAMAM) was used for covalent attachment of PSA-aptamer and HRP linked aptamer (Au-PAMA/aptamer-HRP) as electrochemical label in the sandwich format and electrocatalytic reduction of H2O2 in the presence of enzymatically oxidized thionine was measured. Under optimized condition, the obtained detection limit and linear concentration range were 10 fg ml(-1)(S/N=3) and 0.1 pg ml(-1) to 90 ngml(-1) respectively, using differential pulse voltammetry as measuring technique. In addition, electrochemical impedance spectroscopy (EIS) was used as simple, rapid, low cost label free analytical technique for PSA measurement with detection limit of 5 pg ml(-1) at concentration range up to 35 ng ml(-1). Finally, the immunosensor is used to PSA detection in human serum and prostate tissue samples and the obtained result is well agreed with the values obtained by the standard ELISA method. The obtained results indicate the proposed immunosensor can be used for monitor the differences in PSA concentration in cancer tissue samples which holds great promise in clinical screening of cancer biomarkers. Copyright © 2015 Elsevier B.V. All rights reserved.

  9. Individuals with chronic ankle instability exhibit altered landing knee kinematics: potential link with the mechanism of loading for the anterior cruciate ligament.

    Science.gov (United States)

    Terada, Masafumi; Pietrosimone, Brian; Gribble, Phillip A

    2014-12-01

    Alterations in sagittal plane landing biomechanics in the lower extremity have been observed within the chronic ankle instability (CAI) population. Interestingly, a potential link between the risk of anterior cruciate ligament (ACL) injury and ankle sprain history has been proposed. However, it is not known if the observed biomechanical changes associated with CAI could mimic factors related to the mechanism of ACL injury. We investigated the influence of CAI on anterior tibial shear force (ATSF), lower extremity sagittal plane kinematics, and posterior ground reaction force (GRF) in a jump landing task. Nineteen participants with CAI and 19 healthy control participants performed a vertical stop jump. Peak ATSF was calculated during the first landing of the stop jump, with sagittal-plane kinematics and posterior GRF measured at peak ATSF. Independent t-tests, multiple linear regression, and Pearson bivariate correlation were used for statistical analysis. Participants with CAI demonstrated less knee flexion at peak ATSF compared to the controls (P=.026). No group-differences were found for peak ATSF or the other biomechanical variables. Knee flexion was moderately correlated with peak ATSF (r=-0.544, P=.008); however, the contributing factor that most explained the variance in ATSF was posterior GRF (R2=0.449; P=.002) in the CAI group. Our findings indicate that the CAI group may be exhibiting altered knee function during functional movement. Screening knee movement patterns in individuals with CAI may help develop preventative measures for future joint injury throughout the kinetic chain. Copyright © 2014 Elsevier Ltd. All rights reserved.

  10. Age-specific incidence rates for dementia and Alzheimer disease in NIA-LOAD/NCRAD and EFIGA families: National Institute on Aging Genetics Initiative for Late-Onset Alzheimer Disease/National Cell Repository for Alzheimer Disease (NIA-LOAD/NCRAD) and Estudio Familiar de Influencia Genetica en Alzheimer (EFIGA).

    Science.gov (United States)

    Vardarajan, Badri N; Faber, Kelley M; Bird, Thomas D; Bennett, David A; Rosenberg, Roger; Boeve, Bradley F; Graff-Radford, Neill R; Goate, Alison M; Farlow, Martin; Sweet, Robert A; Lantigua, Rafael; Medrano, Martin Z; Ottman, Ruth; Schaid, Daniel J; Foroud, Tatiana M; Mayeux, Richard

    2014-03-01

    Late-onset Alzheimer disease (LOAD), defined as onset of symptoms after age 65 years, is the most common form of dementia. Few reports investigate incidence rates in large family-based studies in which the participants were selected for family history of LOAD. To determine the incidence rates of dementia and LOAD in unaffected members in the National Institute on Aging Genetics Initiative for Late-Onset Alzheimer Disease/National Cell Repository for Alzheimer Disease (NIA-LOAD/NCRAD) and Estudio Familiar de Influencia Genetica en Alzheimer (EFIGA) family studies. Families with 2 or more affected siblings who had a clinical or pathological diagnosis of LOAD were recruited as a part of the NIA-LOAD/NCRAD Family Study. A cohort of Caribbean Hispanics with familial LOAD was recruited in a different study at the Taub Institute for Research on Alzheimer's Disease and the Aging Brain in New York and from clinics in the Dominican Republic as part of the EFIGA study. Age-specific incidence rates of LOAD were estimated in the unaffected family members in the NIA-LOAD/NCRAD and EFIGA data sets. We restricted analyses to families with follow-up and complete phenotype information, including 396 NIA-LOAD/NCRAD and 242 EFIGA families. Among the 943 at-risk family members in the NIA-LOAD/NCRAD families, 126 (13.4%) developed dementia, of whom 109 (86.5%) met criteria for LOAD. Among 683 at-risk family members in the EFIGA families, 174 (25.5%) developed dementia during the study period, of whom 145 (83.3%) had LOAD. The annual incidence rates of dementia and LOAD in the NIA-LOAD/NCRAD families per person-year were 0.03 and 0.03, respectively, in participants aged 65 to 74 years; 0.07 and 0.06, respectively, in those aged 75 to 84 years; and 0.08 and 0.07, respectively, in those 85 years or older. Incidence rates in the EFIGA families were slightly higher, at 0.03 and 0.02, 0.06 and 0.05, 0.10 and 0.08, and 0.10 and 0.07, respectively, in the same age groups. Contrasting these

  11. Higher viral load and genetic diversity of HIV-1 in seminal compartments than in blood of seven Chinese men who have sex with men and have early HIV-1 infection.

    Science.gov (United States)

    Jiao, Yan-Mei; Chen, Guang-Lei; Zhu, Wei-Jun; Huang, Hui-Huang; Fu, Jun-Liang; Chen, Wei-Wei; Shi, Ming; Zhang, Tong; Wu, Hao; Wang, Fu-Sheng

    2017-06-01

    To date, there have been no reports characterizing HIV-1 in the semen of Chinese men who have sex with men (MSM) with early infection. In this study, genetic diversity and viral load of HIV-1 in the seminal compartments and blood of Chinese MSM with early HIV-1 infection were examined. Viral load and genetic diversity of HIV-1 in paired samples of semen and blood were analyzed in seven MSM with early HIV-1 infection. HIV-1 RNA and DNA were quantitated by real-time PCR assays. Through sequencing the C2-V5 region of the HIV-1 env gene, the HIV-1 genotype and genetic diversity based on V3 loop amino acid sequences were determined by using Geno2pheno and PSSM programs co-receptor usage. It was found that there was more HIV-1 RNA in seminal plasma than in blood plasma and total, and more 2-LTR circular and integrated HIV-1 DNA in seminal cells than in peripheral blood mononuclear cells from all seven patients with early HIV-infection. There was also greater HIV-1 genetic diversity in seminal than in blood compartments. HIV-1 in plasma displayed higher genetic diversity than in cells from the blood and semen. In addition, V3 loop central motifs, which present some key neutralizing antibody epitopes, varied between blood and semen. Thus, virological characteristics in semen may be more representative when evaluating risk of transmission in persons with early HIV infection. © 2017 The Societies and John Wiley & Sons Australia, Ltd.

  12. Genetics Home Reference: psoriatic arthritis

    Science.gov (United States)

    ... 2 links) American Society for Surgery of the Hand Johns Hopkins Arthritis Center General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic conditions diagnosed? How ...

  13. Do Other People's Plights Matter? A Genetically Informed Twin Study of the Role of Social Context in the Link between Peer Victimization and Children's Aggression and Depression Symptoms

    Science.gov (United States)

    Brendgen, Mara; Vitaro, Frank; Barker, Edward D.; Girard, Alain; Dionne, Ginette; Tremblay, Richard E.; Boivin, Michel

    2013-01-01

    Using a genetically informed design, this study examined the additive and interactive effects of genetic risk, personal peer victimization experiences, and peer victimization experienced by others on children's aggression and depression symptoms. Of major interest was whether these effects varied depending on whether or not the victimized others…

  14. A genetic polymorphism in the sex-linked ATP5A1 gene is associated with individual fitness in Ovenbirds (Seiurus aurocapilla)

    Science.gov (United States)

    Judith D. Toms; Lori S. Eggert; Wayne J. Arendt; John. Faaborg

    2012-01-01

    While testing genetic sexing techniques in Ovenbirds (Seiurus aurocapilla),we found a genetic polymorphism in the ATP5A1 gene in 38% of individuals. The Z ' allele included changes in both intronic and exonic portions of the sequenced region, but there was no evidence that this changed the resulting ATP synthase product. Males that had one or more copies of...

  15. Regulation of Genetic Tests

    Science.gov (United States)

    ... Links for Patient Care Education All About the Human Genome Project Fact Sheets Genetic Education Resources for Teachers Genomic Careers National DNA Day Online Education Kit Online Genetics Education ... Subjects Research Informed Consent for Genomics Research Intellectual ...

  16. Genetics Home Reference: SADDAN

    Science.gov (United States)

    ... view the expand/collapse boxes. Description SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a ... Genetic Testing (1 link) Genetic Testing Registry: Severe achondroplasia with developmental delay and acanthosis nigricans Other Diagnosis ...

  17. Scandinavian links

    DEFF Research Database (Denmark)

    Matthiessen, Christian Wichmann; Knowles, Richard D.

    2014-01-01

    centres, one joins more thinly populated regions, and the last one links peripheral areas. Two of them (The Great Belt Link and the Oresund Link) have been constructed and are in full operation. The third (the Fehmarnbelt Link) has been decided 2008 on bilateral government level. The three links...

  18. Genetics Home Reference: Farber lipogranulomatosis

    Science.gov (United States)

    ... features. Type 1 is the most common, or classical, form of this condition and is associated with ... be inherited? More about Inheriting Genetic Conditions Diagnosis & Management Resources Genetic Testing (1 link) Genetic Testing Registry: ...

  19. Load Measurements

    DEFF Research Database (Denmark)

    Kock, Carsten Weber; Vesth, Allan

    The report describes Load measurements carried out on a given wind turbine. The aim of the measurement program regarding the loads on the turbine is to verify the basic characteristics of the wind turbine and loads on the blades, the rotor and the tower, using [Ref 1], [Ref2] and [Ref 3]. Regarding...... the fatigue loads, the rotor, blades and tower moments are presented. The fatigue loads are evaluated using rainflow counting described in detail in Ref. [1]. The 1Hz equivalent load ranges are calculated at different wind speeds. All information regarding the instrumentation is collected in [ref 4] and [ref...

  20. Genetic algorithms used for PWRs refuel management automatic optimization: a new modelling

    International Nuclear Information System (INIS)

    Chapot, Jorge Luiz C.; Schirru, Roberto; Silva, Fernando Carvalho da

    1996-01-01

    A Genetic Algorithms-based system, linking the computer codes GENESIS 5.0 and ANC through the interface ALGER, has been developed aiming the PWRs fuel management optimization. An innovative codification, the Lists Model, has been incorporated to the genetic system, which avoids the use of variants of the standard crossover operator and generates only valid loading patterns in the core. The GENESIS/ALGER/ANC system has been successfully tested in an optimization study for Angra-1 second cycle. (author)

  1. Plasminogen activator inhibitor type 1 gene is located at region q21. 3-q22 of chromosome 7 and genetically linked with cystic fibrosis

    Energy Technology Data Exchange (ETDEWEB)

    Klinger, K.W.; Winqvist, R.; Riccio, A.; Andreasen, P.A.; Sartorio, R.; Nielsen, L.S.; Stuart, N.; Stanislovitis, P.; Watkins, P.; Douglas, R.

    1987-12-01

    The regional chromosomal location of the human gene for plasminogen activator inhibitor type 1 (PAI1) was determined by three independent methods of gene mapping. PAI1 was localized first to 7cen-q32 and then to 7q21.3-q22 by Southern blot hybridization analysis of a panel of human and mouse somatic cell hybrids with a PAI1 cDNA probe and in situ hybridization, respectively. The authors frequent HindIII restriction fragment length polymorphism (RFLP) of the PAI1 gene with an information content of 0.369. In family studies using this polymorphism, genetic linkage was found between PAI1 and the loci for erythropoietin (EPO), paraoxonase (PON), the met protooncogene (MET), and cystic fibrosis (CF), all previously assigned to the middle part of the long arm of chromosome 7. The linkage with EPO was closest with an estimated genetic distance of 3 centimorgans, whereas that to CF was 20 centimorgans. A three-point genetic linkage analysis and data from previous studies showed that the most likely order of these loci is EPO, PAI1, PON, (MET, CF), with PAI1 being located centromeric to CF. The PAI1 RFLP may prove to be valuable in ordering genetic markers in the CF-linkage group and may also be valuable in genetic analysis of plasminogen activation-related diseases, such as certain thromboembolic disorders and cancer.

  2. Plasminogen activator inhibitor type 1 gene is located at region q21.3-q22 of chromosome 7 and genetically linked with cystic fibrosis

    International Nuclear Information System (INIS)

    Klinger, K.W.; Winqvist, R.; Riccio, A.

    1987-01-01

    The regional chromosomal location of the human gene for plasminogen activator inhibitor type 1 (PAI1) was determined by three independent methods of gene mapping. PAI1 was localized first to 7cen-q32 and then to 7q21.3-q22 by Southern blot hybridization analysis of a panel of human and mouse somatic cell hybrids with a PAI1 cDNA probe and in situ hybridization, respectively. The authors frequent HindIII restriction fragment length polymorphism (RFLP) of the PAI1 gene with an information content of 0.369. In family studies using this polymorphism, genetic linkage was found between PAI1 and the loci for erythropoietin (EPO), paraoxonase (PON), the met protooncogene (MET), and cystic fibrosis (CF), all previously assigned to the middle part of the long arm of chromosome 7. The linkage with EPO was closest with an estimated genetic distance of 3 centimorgans, whereas that to CF was 20 centimorgans. A three-point genetic linkage analysis and data from previous studies showed that the most likely order of these loci is EPO, PAI1, PON, (MET, CF), with PAI1 being located centromeric to CF. The PAI1 RFLP may prove to be valuable in ordering genetic markers in the CF-linkage group and may also be valuable in genetic analysis of plasminogen activation-related diseases, such as certain thromboembolic disorders and cancer

  3. Effects of genetic selection for milk yield on energy balance, levels of hormones, and metabolites in lactating cattle, and possible links to reduced fertility

    NARCIS (Netherlands)

    Veerkamp, R.F.; Beerda, B.; Lende, van der T.

    2003-01-01

    Selection for a higher milk yield increases metabolic load via a higher yield per se and/or via physiological processes that facilitate milk yield, and it is difficult to differentiate between these two. Here, we aim to identify important pathways that contribute to the reduction in fertility

  4. Determining resistance to mastitis in a bovine subject comprises detecting the presence or absence of a genetic marker that is linked to a trait indicative of mastitis resistance

    DEFF Research Database (Denmark)

    2007-01-01

    The invention relates to a method for determining mastitis resistance in bovine subjects, wherein mastitis resistance comprise resistance to both sub-clinical and clinical mastitis. In particular, the method of the invention involves identification of genetic markers and/or Quantitative Trait Locus...... (QTL) for the determination of mastitis resistance in a bovine subject. The determination of mastitis resistance involves resolution of the specific microsatellite status. Furthermore, the invention relates to a diagnostic kit for detection of genetic marker(s) associated with mastitis resistance....... The method and kit of the present invention can be applied for selection of bovine subjects for breeding purposes. Thus, the invention provides a method of genetically selecting bovine subjects with mastitis resistance, thereby yielding cows less prone to mastitis...

  5. Use of congeneric assessment to reveal the linked genetic histories of two threatened fishes in the Murray-Darling Basin, Australia.

    Science.gov (United States)

    Adams, M; Wedderburn, S D; Unmack, P J; Hammer, M P; Johnson, J B

    2011-08-01

    The intensely regulated Murray-Darling Basin in southeastern Australia is the nation's most extensive and economically important river system, and it contains fragmented populations of numerous fish species. Among these is the Murray hardyhead (Craterocephalus fluviatilis), a species listed as endangered (International Union for Conservation of Nature Red List) in the mid-1990 s prior to its acute decline with the progression of a severe drought that began in 1997. We compared the genetic structure of Murray hardyhead with 4 congeneric species (Darling hardyhead[C. amniculus], Finke hardyhead[C. centralis], Lake Eyre hardyhead[C. eyresii], and unspecked hardyhead[C. stercusmuscarum]), selected on the basis of their taxonomic or biological similarity to Murray hardyhead, in order to affirm species boundaries and test for instances of introgressive hybridization, which may influence species ecology and conservation prospects. We used allozyme (52 loci) and mtDNA markers (1999 bp of ATPase and cytochrome b) to provide a comparative genetic assessment of 139 Murray hardyhead, which represented all extant and some recently extirpated populations, and 71 congeneric specimens from 12 populations. We confirmed that Murray hardyhead and Darling hardyhead are taxonomically distinct and identified a number of potential conservation units, defined with genetic criteria, in both species. We also found allozyme and mtDNA evidence of historic genetic exchange between these 2 allopatric species, apparently involving one population of each species at the geographic edge of the species' ranges, not in the most proximate populations sampled. Our results provide information on species boundaries and offer insight into the likely causes of high genetic diversity in certain populations, results which are already being used to guide national recovery planning and local action. Given the prevalence of incorrect taxonomies and introgression in many organismal groups, we believe these data

  6. PNPLA 3 I148M genetic variant associates with insulin resistance and baseline viral load in HCV genotype 2 but not in genotype 3 infection

    DEFF Research Database (Denmark)

    Rembeck, Karolina; Maglio, Cristina; Lagging, Martin

    2012-01-01

    ABSTRACT: BACKGROUND: Hepatic steatosis in HCV patients has been postulated as a risk factor associated with a higher frequency of fibrosis and cirrhosis. A single genetic variant, PNPLA3 I148M, has been widely associated with increased hepatic steatosis. Previous studies of the PNPLA3 I148M...

  7. Load forecasting

    International Nuclear Information System (INIS)

    Mak, H.

    1995-01-01

    Slides used in a presentation at The Power of Change Conference in Vancouver, BC in April 1995 about the changing needs for load forecasting were presented. Technological innovations and population increase were said to be the prime driving forces behind the changing needs in load forecasting. Structural changes, market place changes, electricity supply planning changes, and changes in planning objectives were other factors discussed. It was concluded that load forecasting was a form of information gathering, that provided important market intelligence

  8. The Region of Difference Four is a Robust Genetic Marker for Subtyping Mycobacterium caprae Isolates and is Linked to Spatial Distribution of Three Subtypes.

    Science.gov (United States)

    Rettinger, A; Broeckl, S; Fink, M; Prodinger, W M; Blum, H; Krebs, S; Domogalla, J; Just, F; Gellert, S; Straubinger, R K; Büttner, M

    2017-06-01

    Alpine Mycobacterium caprae isolates found in cattle and red deer display at least three genetic variations in the region of difference four (RD4) that can be used for further differentiation of the isolates into the subtypes 'Allgäu', 'Karwendel' and 'Lechtal'. Each genomic subtype is thereby characterized by a specific nucleotide deletion pattern in the 12.7-kb RD4 region. Even though M. caprae infections are frequently documented in cattle and red deer, little is known about the transmission routes. Hence, robust markers for M. caprae subtyping are needed to gain insight into the molecular epidemiology. For this reason, a rapid and robust multiplex PCR was developed for the simultaneous detection of three M. caprae RD4 subtypes and was used to subtype a total number of 241 M. caprae isolates from animals (145 cattle, 95 red deer and one fox) from Bavaria and Austria. All three subtypes occur spatially distributed and are found in cattle and in red deer suggesting transmission between the two species. As subtypes are genetically stable in both species it is hypothesized that the described genetic variations developed within the host due to 'within-host replication'. The results of this study recommend the genomic RD4 region as a reliable diagnostic marker for M. caprae subtype differentiation. © 2015 Blackwell Verlag GmbH.

  9. Cryptic relatedness in epidemiologic collections accessed for genetic association studies: experiences from the Epidemiologic Architecture for Genes Linked to Environment (EAGLE) study and the National Health and Nutrition Examination Surveys (NHANES).

    Science.gov (United States)

    Malinowski, Jennifer; Goodloe, Robert; Brown-Gentry, Kristin; Crawford, Dana C

    2015-01-01

    Epidemiologic collections have been a major resource for genotype-phenotype studies of complex disease given their large sample size, racial/ethnic diversity, and breadth and depth of phenotypes, traits, and exposures. A major disadvantage of these collections is they often survey households and communities without collecting extensive pedigree data. Failure to account for substantial relatedness can lead to inflated estimates and spurious associations. To examine the extent of cryptic relatedness in an epidemiologic collection, we as the Epidemiologic Architecture for Genes Linked to Environment (EAGLE) study accessed the National Health and Nutrition Examination Surveys (NHANES) linked to DNA samples ("Genetic NHANES") from NHANES III and NHANES 1999-2002. NHANES are population-based cross-sectional surveys conducted by the National Center for Health Statistics at the Centers for Disease Control and Prevention. Genome-wide genetic data is not yet available in NHANES, and current data use agreements prohibit the generation of GWAS-level data in NHANES samples due issues in maintaining confidentiality among other ethical concerns. To date, only hundreds of single nucleotide polymorphisms (SNPs) genotyped in a variety of candidate genes are available for analysis in NHANES. We performed identity-by-descent (IBD) estimates in three self-identified subpopulations of Genetic NHANES (non-Hispanic white, non- Hispanic black, and Mexican American) using PLINK software to identify potential familial relationships from presumed unrelated subjects. We then compared the PLINKidentified relationships to those identified by an alternative method implemented in Kinship-based INference for Genome-wide association studies (KING). Overall, both methods identified familial relationships in NHANES III and NHANES 1999-2002 for all three subpopulations, but little concordance was observed between the two methods due in major part to the limited SNP data available in Genetic NHANES

  10. Pre-breeding: a link between genetic resources and maize breeding Pré-melhoramento: uma ponte entre os recursos genéticos e o melhoramento de milho

    Directory of Open Access Journals (Sweden)

    Luciano Lourenço Nass

    2000-09-01

    Full Text Available Activities related to genetic resources are characterized by high cost and long term return. Thus the conservation of genetic variability for the future and the efficient utilization of available accessions are two important goals to be attained. However, the low utilization of germplasm banks is not restricted to Brazil but to other developing countries as well. Therefore, pre-breeding is a promising alternative to link genetic resources and breeding programs. Several aspects for maize are discussed such as concept, importance, methods and results. Problems to be investigated and suggestions are also presented.As atividades relacionadas com recursos genéticos são caracterizadas por alto custo e retorno a longo prazo. Além da conservação da variabilidade genética para o futuro, a utilização atual dos acessos disponíveis é outro importante objetivo. Entretanto, a utilização de bancos de germoplasma é baixa não apenas no Brasil, mas em outros países em desenvolvimento. Assim, o pré-melhoramento constitui excelente alternativa para tornar os recursos genéticos disponíveis para os programas de melhoramento. Vários aspectos são discutidos como conceito, importância, métodos e resultados no melhoramento de milho. Problemas a serem investigados e também sugestões são apresentadas.

  11. The more the better - polyandry and genetic similarity are positively linked to reproductive success in a natural population of terrestrial salamanders (Salamandra salamandra).

    Science.gov (United States)

    Caspers, Barbara A; Krause, E Tobias; Hendrix, Ralf; Kopp, Michael; Rupp, Oliver; Rosentreter, Katrin; Steinfartz, Sebastian

    2014-01-01

    Although classically thought to be rare, female polyandry is widespread and may entail significant fitness benefits. If females store sperm over extended periods of time, the consequences of polyandry will depend on the pattern of sperm storage, and some of the potential benefits of polyandry can only be realized if sperm from different males is mixed. Our study aimed to determine patterns and consequences of polyandry in an amphibian species, the fire salamander, under fully natural conditions. Fire salamanders are ideal study objects, because mating, fertilization and larval deposition are temporally decoupled, females store sperm for several months, and larvae are deposited in the order of fertilization. Based on 18 microsatellite loci, we conducted paternity analysis of 24 female-offspring arrays with, in total, over 600 larvae fertilized under complete natural conditions. More than one-third of females were polyandrous and up to four males were found as sires. Our data clearly show that sperm from multiple males is mixed in the female's spermatheca. Nevertheless, paternity is biased, and the most successful male sires on average 70% of the larvae, suggesting a 'topping off' mechanism with first-male precedence. Female reproductive success increased with the number of sires, most probably because multiple mating ensured high fertilization success. In contrast, offspring number was unaffected by female condition and genetic characteristics, but surprisingly, it increased with the degree of genetic relatedness between females and their sires. Sires of polyandrous females tended to be genetically similar to each other, indicating a role for active female choice. © 2013 John Wiley & Sons Ltd.

  12. A 1. 5-megabase yeast artificial chromosome contig from human chromosome 10q11. 2 connecting three genetic loci (RET, D10S94, and D10S102) closely linked to the MEN2A locus

    Energy Technology Data Exchange (ETDEWEB)

    Lairmore, T.C.; Dou, S.; Howe, J.R.; Chi, D.; Carlson, K.; Veile, R.; Mishra, S.K.; Wells, S.A. Jr.; Donis-Keller, H. (Washington Univ. School of Medicine, St. Louis, MO (United States))

    1993-01-15

    The genetic loci RET, D10S94, and D10S102 from human chromosome 10q11.2 are very closely linked to a locus responsible for the multiple endocrine neoplasia type 2 (MEN2A and MEN2B) and medullary thyroid carcinoma (MTC1) familial cancer syndromes. We have constructed a 1.5-megabase contig consisting of six genomic yeast artificial chromosome clones which include these loci and define their physical order. A critical crossover event has been identified within the map interval; this event places the MEN2A locus centromeric to D10S102 and defines the orientation of the physical map on the chromosome. The orientation of the contig and order of the markers are centromere-RET-D10S94-D10S102-telomere. In addition, a microsatellite repeat polymorphism with a heterozygosity of 71% at the RET locus and a restriction fragment length polymorphism with a heterozygosity of 42% detected by a [lambda] clone from the D10S94 locus have been developed for high-resolution genetic linkage mapping and predictive diagnostic testing. These data place three important markers on a contiguous physical map, narrow the MEN2 disease locus interval, and provide a framework for further candidate gene identification efforts. Placement of these genetic loci along a clone-based map and continued expansion of the contig will also facilitate efforts to determine the relationship of physical to genetic distance near the chromosomes of human chromosomes. 41 refs., 3 figs., 1 tab.

  13. The genetically modified polysialylated form of neural cell adhesion molecule-positive cells for potential treatment of X-linked adrenoleukodystrophy.

    Science.gov (United States)

    Jang, Jiho; Kim, Han-Soo; Kang, Joon Won; Kang, Hoon-Chul

    2013-01-01

    Cell transplantation of myelin-producing exogenous cells is being extensively explored as a means of remyelinating axons in X-linked adrenoleukodystrophy. We determined whether 3,3',5-Triiodo-L-thyronine (T3) overexpresses the ABCD2 gene in the polysialylated (PSA) form of neural cell adhesion molecule (NCAM)-positive cells and promotes cell proliferation and favors oligodendrocyte lineage differentiation. PSA-NCAM+ cells from newborn Sprague-Dawley rats were grown for five days on uncoated dishes in defined medium with or without supplementation of basic fibroblast growth factor (bFGF) and/or T3. Then, PSA-NCAM+ spheres were prepared in single cells and transferred to polyornithine/fibronectin-coated glass coverslips for five days to determine the fate of the cells according to the supplementation of these molecules. T3 responsiveness of ABCD2 was analyzed using real-time quantitative polymerase chain reaction, the growth and fate of cells were determined using 5-bromo-2-deoxyuridine incorporation and immunocytochemistry, respectively. Results demonstrated that T3 induces overexpression of the ABCD2 gene in PSA-NCAM+ cells, and can enhance PSA-NCAM+ cell growth in the presence of bFGF, favoring an oligodendrocyte fate. These results may provide new insights into investigation of PSA-NCAM+ cells for therapeutic application to X-linked adrenoleukodystrophy.

  14. Genetics Home Reference: Denys-Drash syndrome

    Science.gov (United States)

    ... Conditions Diagnosis & Management Resources Genetic Testing (1 link) Genetic Testing Registry: Drash syndrome Other Diagnosis and Management Resources (2 links) GeneReview: Wilms Tumor Predisposition MedlinePlus Encyclopedia: Nephrotic Syndrome General Information from MedlinePlus ( ...

  15. Chronic pain, depression and cardiovascular disease linked through a shared genetic predisposition: Analysis of a family-based cohort and twin study.

    Science.gov (United States)

    van Hecke, Oliver; Hocking, Lynne J; Torrance, Nicola; Campbell, Archie; Padmanabhan, Sandosh; Porteous, David J; McIntosh, Andrew M; Burri, Andrea V; Tanaka, Haruka; Williams, Frances M K; Smith, Blair H

    2017-01-01

    Depression and chronic pain are the two most important causes of disability (Global Burden of Disease Study 2013). They occur together more frequently than expected and both conditions have been shown to be co-morbid with cardiovascular disease. Although shared socio-demographic risk factors (e.g. gender, deprivation) might explain the co-morbidity of these three conditions, we hypothesised that these three long-term, highly prevalent conditions co-occur and may be due to shared familial risk, and/or genetic factors. We employed three different study designs in two independent cohorts, namely Generation Scotland and TwinsUK, having standardised, validated questionnaire data on the three traits of interest. First, we estimated the prevalence and co-occurrence of chronic pain, depression and angina among 24,024 participants of a population-based cohort of extended families (Generation Scotland: Scottish Family Health Study), adjusting for age, gender, education, smoking status, and deprivation. Secondly, we compared the odds of co-morbidity in sibling-pairs with the odds in unrelated individuals for the three conditions in the same cohort. Lastly, examination of similar traits in a sample of female twins (TwinsUK, n = 2,902), adjusting for age and BMI, allowed independent replication of the findings and exploration of the influence of additive genetic (A) factors and shared (C) and non-shared (E) environmental factors predisposing to co-occurring chronic widespread pain (CWP) and cardiovascular disease (hypertension, angina, stroke, heart attack, elevated cholesterol, angioplasty or bypass surgery). In the Generation Scotland cohort, individuals with depression were more than twice as likely to have chronic pain as those without depression (adjusted OR 2·64 [95% CI 2·34-2·97]); those with angina were four times more likely to have chronic pain (OR 4·19 [3·64-4·82]); those with depression were twice as likely to have angina (OR 2·20 [1·90-2·54]). Similar odds

  16. Genetics Home Reference: combined malonic and methylmalonic aciduria

    Science.gov (United States)

    ... links) Health Topic: Genetic Brain Disorders Health Topic: Lipid Metabolism Disorders Genetic and Rare Diseases Information Center (1 link) Combined malonic and methylmalonic aciduria Additional NIH Resources (1 link) National Human Genome Research Institute: NHGRI Researchers Serve Up Mysterious ...

  17. Balance de carga en circuitos de distribución primaria por algoritmo genético; Load Balance of Primary Distribution Circuits by Genetic Algorithm

    Directory of Open Access Journals (Sweden)

    Ignacio Pérez Abril

    2011-02-01

    Full Text Available Aún cuando la operación más eficiente de un circuito trifásico se obtiene cuando la carga está totalmentebalanceada entre las fases, desde el punto de vista operativo es prácticamente imposible mantener dichobalance las 24 h del día y en todos los nodos del circuito de distribución. La existencia de desbalance entre lascorrientes de fase provoca un incremento de las pérdidas de potencia y energía en toda la longitud del circuitoprimario, al mismo tiempo que empobrece la calidad de la energía servida al contribuir al desbalance de losvoltajes en los distintos nodos del circuito. El presente trabajo implementa un algoritmo gético simple SGA paraseleccionar óptimamente las fases del circuito primario a que se deben conectar tanto los distintos bancos detransformadores de distribución, como los ramales bifásicos y monofásicos del circuito, de forma que se minimicenlos costos de las pérdidas de energía a lo largo del mismo In spite of the must efficient operation of a three phase circuit is obtained when the load is fully balanced, fromthe operative point of view, it is practically impossible to maintain that balance for the 24 hours of the day in allbuses of the distribution network. The existence of unbalance in the phase currents produces an increase inpower and energy losses in all the primary circuit length, at the same time that the power quality served tocustomers is decreased by the voltage unbalance in the circuit buses. The presented paper implements a simplegenetic algorithm SGA to optimize the phase selection for the distribution transformers and transformers banksconnection, as well as two and single phase feeder's connection to the circuit. 

  18. The preservation of the Agoudal impact crater, Morocco, under a landslide: Indication of a genetic link between shatter cones and meteorite fragments

    Science.gov (United States)

    Nachit, Hassane; Abia, El Hassan; Bonadiman, Costanza; Di Martino, Mario; Vaccaro, Carmela

    2017-10-01

    Geological studies and tomographic profiles of a locality nearby the Agoudal village (Morocco) showed the presence of a single impact crater, 500-600 m diameter, largely hidden by a limestone block, 220 m long and 40 m deep. The site was interpreted as a landslide that followed the fall of a cosmic body. The Agoudal impact crater was not affected by intense erosion. The lack of an evident impact structure, as well as the sporadic distribution of impactites and their limited occurrence, can be explained by a complex geological framework and by recent tectonics. The latter is the result of the sliding of limestone block, which hides almost two-thirds of the crater's depression, and the oblique fall of the meteoroid on sloping ground. In addition, some impact breccia dikes sharply cut the host rock in the Agoudal impact structure. They do not show any genetic relationship with tectonics or hydrothermal activity, nor are they related to any karst or calcrete formations. Altogether, the overlapping of the meteorite strewn field (11 km long and 3 km wide) with the area of occurrence of shatter cones and impact breccias, together with the presence of meteorite fragments (shrapnel) ejected from the crater, the presence of shatter cones contaminated by products of iron meteorites and the presence of impact breccias that contain meteorite fragments of the same chemical composition of the Agoudal meteorite indicate that the fall of this meteorite can be responsible for the formation of the impact structure.

  19. Impact of consanguineous marriages and degrees of inbreeding on fertility, child mortality, secondary sex ratio, selection intensity, and genetic load: a cross-sectional study from Northern India.

    Science.gov (United States)

    Fareed, Mohd; Kaisar Ahmad, Mir; Azeem Anwar, Malik; Afzal, Mohammad

    2017-01-01

    The aim of our study was to understand the relationship between consanguineous marriages and reproductive outcomes. A total of 999 families were recruited from five Muslim populations of Jammu region. Family pedigrees were drawn to access the family history and inbreeding status in terms of coefficient of inbreeding (F). Fertility, mortality, secondary sex ratio, selection intensity, and lethal equivalents were measured using standard methods. The significant differences for gross fertility was found to be higher among inbred groups as compared to the unrelated families (P child mortality rates (i.e., U5MR and U18MR) have presented a persuasive increase with an upsurge in the homozygosity level. The mortality rate was found to be maximum among families with the highest value of coefficient of inbreeding (F). The selection intensity (SI) also showed inflations among families with respect to their increasing inbreeding coefficients. The greater values of lethal equivalents per gamete (LEs/gamete) were observed for autosomal inheritance in comparison with sex-linked inheritance. Our conclusive assessment brings out the deleterious consequence of consanguineous marriages on reproductive outcomes.

  20. HIV-1 transmitting couples have similar viral load set-points in Rakai, Uganda.

    Directory of Open Access Journals (Sweden)

    T Déirdre Hollingsworth

    2010-05-01

    Full Text Available It has been hypothesized that HIV-1 viral load set-point is a surrogate measure of HIV-1 viral virulence, and that it may be subject to natural selection in the human host population. A key test of this hypothesis is whether viral load set-points are correlated between transmitting individuals and those acquiring infection. We retrospectively identified 112 heterosexual HIV-discordant couples enrolled in a cohort in Rakai, Uganda, in which HIV transmission was suspected and viral load set-point was established. In addition, sequence data was available to establish transmission by genetic linkage for 57 of these couples. Sex, age, viral subtype, index partner, and self-reported genital ulcer disease status (GUD were known. Using ANOVA, we estimated the proportion of variance in viral load set-points which was explained by the similarity within couples (the 'couple effect'. Individuals with suspected intra-couple transmission (97 couples had similar viral load set-points (p = 0.054 single factor model, p = 0.0057 adjusted and the couple effect explained 16% of variance in viral loads (23% adjusted. The analysis was repeated for a subset of 29 couples with strong genetic support for transmission. The couple effect was the major determinant of viral load set-point (p = 0.067 single factor, and p = 0.036 adjusted and the size of the effect was 27% (37% adjusted. Individuals within epidemiologically linked couples with genetic support for transmission had similar viral load set-points. The most parsimonious explanation is that this is due to shared characteristics of the transmitted virus, a finding which sheds light on both the role of viral factors in HIV-1 pathogenesis and on the evolution of the virus.

  1. Talking Glossary of Genetic Terms

    Science.gov (United States)

    ... Links for Patient Care Education All About the Human Genome Project Fact Sheets Genetic Education Resources for Teachers Genomic Careers National DNA Day Online Education Kit Online Genetics Education ... Subjects Research Informed Consent for Genomics Research Intellectual ...

  2. Genetics Home Reference: hereditary xanthinuria

    Science.gov (United States)

    ... Testing (2 links) Genetic Testing Registry: Deficiency of xanthine oxidase Genetic Testing Registry: Xanthinuria type 2 Other Diagnosis ... xanthine dehydrogenase and aldehyde oxidase xanthine dehydrogenase deficiency xanthine oxidase deficiency xanthinuria XDH deficiency Related Information How are ...

  3. Genetics Home Reference: arginase deficiency

    Science.gov (United States)

    ... in ammonia may lead to episodes of irritability, refusal to eat, and vomiting. In some affected individuals, ... links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic ...

  4. X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females.

    Science.gov (United States)

    Coll, M J; Palau, N; Camps, C; Ruiz, M; Pàmpols, T; Girós, M

    2005-05-01

    In this study, we analyzed the ABCD1 gene in 80 X-linked adrenoleukodystrophy (X-ALD) patients from 62 unrelated families. We identified 53 different mutations, of which 26 are novel and two are non-pathogenic sequence variants (L516L and 3'UTR, 2246C/G) that have been previously described. The Spanish population had significant allelic heterogeneity, in which most of the mutations were exclusive to a single family 47/53 (88.7%). Only six mutations (Y174S, G277R, FsE471, R518Q, P543L, and R554H) were found in more than one family. Mutations G277R, P543L, and R554H were the most frequent, each of them being found in three patients (5%). Intra-familiar phenotype variability was observed in most of the families, but in one, with the novel mutation R120P, only the adult mild phenotype was present (five hemizygous family members). We detected 80 heterozygous women by mutation analysis, but only 78 of them showed increased very-long-chain fatty acid levels. In conclusion, this study extends the spectrum of mutations in X-ALD and facilitates the identification of heterozygous females. Our results are also consistent with previous studies reporting the difficulty of predicting genotype-phenotype correlation.

  5. Up-regulation of mismatch repair genes MSH6, PMS2 and MLH1 parallels development of genetic instability and is linked to tumor aggressiveness and early PSA recurrence in prostate cancer.

    Science.gov (United States)

    Wilczak, Waldemar; Rashed, Semin; Hube-Magg, Claudia; Kluth, Martina; Simon, Ronald; Büscheck, Franziska; Clauditz, Till Sebastian; Grupp, Katharina; Minner, Sarah; Tsourlakis, Maria Christina; Möller-Koop, Christina; Graefen, Markus; Adam, Meike; Haese, Alexander; Wittmer, Corinna; Sauter, Guido; Izbicki, Jakob Robert; Huland, Hartwig; Schlomm, Thorsten; Steurer, Stefan; Krech, Till; Lebok, Patrick

    2017-01-01

    DNA mismatch repair (MMR) is integral to the maintenance of genetic stability. We aimed to evaluate the clinical impact of MMR gene expression in prostate cancer. The MMR genes MSH6, MLH1 and PMS2 were analyzed by immunohistochemistry on a tissue microarray containing 11152 prostate cancer specimens. Results were compared with ETS-related gene status and deletions of PTEN, 3p13, 5q21 and 6q15. MSH6, MLH1 and PMS2 expression was detectable in 89.5%, 85.4% and 85.0% of cancers and was particularly strong in cancers with advanced pathological tumor stage (P gene expression paralleled features of genetic instability, such as the number of genomic deletions per cancer; strong expression of all three MMR genes was found in 24%, 29%, 30%, 33% and 42% of cancers with no, one, two, three or four to five deletions (P genes was largely driven by the subset of cancers lacking ERG fusion (P gene overexpression was only marginal in ERG-positive cancers. Multivariate analyses suggested an independent prognostic relevance of MMR genes in ERG-negative prostate cancers when compared with prognostic parameters available at the time of initial biopsy. In conclusion, MMR overexpression is common in prostate cancer and is linked to poor outcome as well as features indicating genetic instability. ERG fusion should be analyzed along with MMR gene expression in potential clinical tests. © The Author 2016. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  6. Genetics Home Reference: lactate dehydrogenase deficiency

    Science.gov (United States)

    ... this condition: lactate dehydrogenase-A deficiency (sometimes called glycogen storage disease XI) and lactate dehydrogenase-B deficiency. People with ... Resources Genetic Testing (2 links) Genetic Testing Registry: Glycogen storage disease XI Genetic Testing Registry: Lactate dehydrogenase B deficiency ...

  7. The power of the age standardized incidence rate to discover the gene link between cancer diseases: development of a new epidemiological method to save money, time, and effort for genetic scientists.

    Science.gov (United States)

    Alghamdi, Ibrahim G; Hussain, Issam I; Alghamdi, Mohamed S; El-Sheemy, Mohammed A

    2015-01-01

    This study provides an incipient epidemiological rule using the concept of direct method of standardization to determine the genetic link between cancer diseases. The overall 8 or 10 years age standardized incidence rate (ASIR) for both cancer diseases, for example (A) and (B) should be calculated for all regions of the country. A line chart should be used to display the overall ASIR trend of both diseases (A and B). Pearson's correlation can be used to determine the strength of the association between the overall ASIRs of both diseases. The overlap or opposite direction of the overall ASIR trend of both diseases (A and B) should be determined and studied for possible associations between cancer diseases. If the trend of the overall 8 or 10 years ASIR of a disease (A) follows that of disease (B) in all regions of the country, then the genes of patients with both diseases (A and B) will be highly homogeneous, and they should be studied in the region with the highest and lowest overall ASIR for both diseases (A and B). In addition, if there is an opposite direction or overlapping trend for both diseases (A and B) in certain regions of the country or among specific groups of people with the same demographic characteristics, then the genes of patients will be investigated for both diseases to identify the potential gene link between cancer diseases. This study revealed that the overall ASIR trends of female breast cancer, prostate cancer, and ovarian cancer are very similar in all regions of Saudi Arabia and England. Our epidemiological evidence helps to save money, time, and effort for testing the potential gene link between cancer diseases.

  8. Genetics Home Reference: spondylocostal dysostosis

    Science.gov (United States)

    ... Tube Defects Health Topic: Scoliosis Health Topic: Spina Bifida Health Topic: Spine Injuries and Disorders Genetic and Rare Diseases Information Center (1 link) Spondylocostal dysostosis ... Educational Resources (7 links) Cleveland Clinic: ...

  9. Genetics Home Reference: epidermolytic hyperkeratosis

    Science.gov (United States)

    ... link) The Swedish Information Centre for Rare Diseases: Ichthyosis General Information from MedlinePlus (5 links) Diagnostic Tests ... congenita of Brocq bullous ichthyosiform erythroderma EHK epidermolytic ichthyosis hyperkeratosis, epidermolytic Related Information How are genetic conditions ...

  10. Genetics Home Reference: Donohue syndrome

    Science.gov (United States)

    ... Genetic Testing Registry: Leprechaunism syndrome Other Diagnosis and Management Resources (1 link) GeneReview: INSR-Related Severe Syndromic Insulin Resistance General Information from MedlinePlus (5 links) Diagnostic Tests ...

  11. Genetics Home Reference: familial candidiasis

    Science.gov (United States)

    ... Immune System and Disorders Health Topic: Yeast Infections Genetic and Rare Diseases Information Center (1 link) Chronic mucocutaneous candidiasis (CMC) Additional NIH Resources (1 link) National Institute of Allergy and Infectious Diseases: CARD9 Deficiency and Other Syndromes of Susceptibility ...

  12. Genetics Home Reference: Omenn syndrome

    Science.gov (United States)

    ... Immunodeficiency Disorders Health Topic: Immune System and Disorders Genetic and Rare Diseases Information Center (1 link) Omenn syndrome Additional NIH Resources (1 link) National Institute of Allergy and Infectious Diseases: Primary Immune Deficiency Diseases Educational Resources (8 ...

  13. Link Analysis

    Science.gov (United States)

    Donoho, Steve

    Link analysis is a collection of techniques that operate on data that can be represented as nodes and links. This chapter surveys a variety of techniques including subgraph matching, finding cliques and K-plexes, maximizing spread of influence, visualization, finding hubs and authorities, and combining with traditional techniques (classification, clustering, etc). It also surveys applications including social network analysis, viral marketing, Internet search, fraud detection, and crime prevention.

  14. Genetics Home Reference: isolated Duane retraction syndrome

    Science.gov (United States)

    ... Encyclopedia: Extraocular Muscle Function Testing Health Topic: Eye Movement Disorders Genetic and Rare Diseases Information Center (1 link) Duane syndrome Additional NIH Resources (1 link) National Human Genome Research Institute: Learning About Duane Syndrome Educational Resources (9 links) American ...

  15. Genetics Home Reference: dystrophic epidermolysis bullosa

    Science.gov (United States)

    ... Squamous Cell Skin Cancer Health Topic: Skin Conditions Genetic and Rare Diseases Information Center (1 link) Dystrophic epidermolysis bullosa Additional NIH Resources (1 link) National Institute of Allergy and Infectious Diseases Educational Resources (4 links) MalaCards: dominant dystrophic ...

  16. Carbohydrate Loading.

    Science.gov (United States)

    Csernus, Marilyn

    Carbohydrate loading is a frequently used technique to improve performance by altering an athlete's diet. The objective is to increase glycogen stored in muscles for use in prolonged strenuous exercise. For two to three days, the athlete consumes a diet that is low in carbohydrates and high in fat and protein while continuing to exercise and…

  17. Operative links

    DEFF Research Database (Denmark)

    Wistoft, Karen

    2010-01-01

    and have been the object of great expectations concerning the ability to incorporate health concerns into every welfare area through health promotion strategies. The paper draws on results and analyses of a collective research project funded by the Danish National Research Council and carried out...... as networks: second, a semantic perspective on discourses and concepts of health, and, third, a health pedagogical perspective on participation, intervention, and roles. This paper argues for the importance of 'operative links' between different levels in health strategies. It is proposed that such links...

  18. Operative Links

    DEFF Research Database (Denmark)

    Wistoft, Karen; Højlund, Holger

    2012-01-01

    and have been the object of great expectations concerning the ability to incorporate health concerns into every welfare area through health promotion strategies. The paper draws on results and analyses of a collective research project funded by the Danish National Research Council and carried out...... links' that indicate cooperative levels which facilitate a creative and innovative effort in disease prevention and health promotion targeted at children and adolescents - across traditional professional boundaries. It is proposed that such links are supported by network structures, shared semantics...

  19. Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH2D serum levels are associated with PHEX mutation type

    Directory of Open Access Journals (Sweden)

    García-Miñaur Sixto

    2011-09-01

    Full Text Available Abstract Background Genetic Hypophosphatemic Rickets (HR is a group of diseases characterized by renal phosphate wasting with inappropriately low or normal 1,25-dihydroxyvitamin D3 (1,25(OH2D serum levels. The most common form of HR is X-linked dominant HR (XLHR which is caused by inactivating mutations in the PHEX gene. The purpose of this study was to perform genetic diagnosis in a cohort of patients with clinical diagnosis of HR, to perform genotype-phenotype correlations of those patients and to compare our data with other HR cohort studies. Methods Forty three affected individuals from 36 non related families were analyzed. For the genetic analysis, the PHEX gene was sequenced in all of the patients and in 13 cases the study was complemented by mRNA sequencing and Multiple Ligation Probe Assay. For the genotype-phenotype correlation study, the clinical and biochemical phenotype of the patients was compared with the type of mutation, which was grouped into clearly deleterious or likely causative, using the Mann-Whitney and Fisher's exact test. Results Mutations in the PHEX gene were identified in all the patients thus confirming an XLHR. Thirty four different mutations were found distributed throughout the gene with higher density at the 3' end. The majority of the mutations were novel (69.4%, most of them resulted in a truncated PHEX protein (83.3% and were family specific (88.9%. Tubular reabsorption of phosphate (TRP and 1,25(OH2D serum levels were significantly lower in patients carrying clearly deleterious mutations than in patients carrying likely causative ones (61.39 ± 19.76 vs. 80.14 ± 8.80%, p = 0.028 and 40.93 ± 30.73 vs. 78.46 ± 36.27 pg/ml, p = 0.013. Conclusions PHEX gene mutations were found in all the HR cases analyzed, which was in contrast with other cohort studies. Patients with clearly deleterious PHEX mutations had lower TRP and 1,25(OH2D levels suggesting that the PHEX type of mutation might predict the XLHR

  20. Prenatal screening and genetics

    DEFF Research Database (Denmark)

    Alderson, P; Aro, A R; Dragonas, T

    2001-01-01

    Although the term 'genetic screening' has been used for decades, this paper discusses how, in its most precise meaning, genetic screening has not yet been widely introduced. 'Prenatal screening' is often confused with 'genetic screening'. As we show, these terms have different meanings, and we...... examine definitions of the relevant concepts in order to illustrate this point. The concepts are i) prenatal, ii) genetic screening, iii) screening, scanning and testing, iv) maternal and foetal tests, v) test techniques and vi) genetic conditions. So far, prenatal screening has little connection...... with precisely defined genetics. There are benefits but also disadvantages in overstating current links between them in the term genetic screening. Policy making and professional and public understandings about screening could be clarified if the distinct meanings of prenatal screening and genetic screening were...

  1. Genetic effects

    International Nuclear Information System (INIS)

    Abrahamson, S.; Bender, M.; Denniston, C.; Schull, W.

    1985-01-01

    Modeling analyses are used to predict the outcomes for two nuclear power plant accident scenarios, the first in which the population received a chronic dose of 0.1 Gy (10 rad) over a 50 year period, the second in which an equivalent population receives acute dose of 2 Gy. In both cases the analyses are projected over a period of five generations. The risk analysis takes on two major forms: the increase in genetic disease that would be observed in the immediate offspring of the exposed population, and the subsequent transmission of the newly induced mutations through future generations. The classes of genetic diseases studied are: dominant gene mutation, X-linked gene mutation, chromosome disorders and multifactorial disorders which involve the interaction of many mutant genes and environmental factors. 28 references, 3 figures, 5 tables

  2. Genetic effects

    International Nuclear Information System (INIS)

    Kato, Hiroo

    1975-01-01

    In 1948-1953 a large scale field survey was conducted to investigate the possible genetic effects of A-bomb radiation on over 70,000 pregnancy terminations in the cities of Hiroshima and Nagasaki. The indices of possible genetic effect including sex ratio, birth weight, frequency of malformation, stillbirth, neonatal death, deaths within 9 months and anthropometric measurements at 9 months of age for these children were investigated in relation to their parent's exposure status to the A-bomb. There were no detectable genetic effects in this sample, except for a slight change in sex ratio which was in the direction to be expected if exposure had induced sex-linked lethal mutations. However, continued study of the sex ratio, based upon birth certificates in Hiroshima and Nagasaki for 1954-1962, did not confirm the earlier trend. Mortality in these children of A-bomb survivors is being followed using a cohort of 54,000 subjects. No clearly significant effect of parental exposure on survival of the children has been demonstrated up to 1972 (age 17 on the average). On the basis of the regression data, the minimal genetic doubling dose of this type of radiation for mutations resulting in death is estimated at 46 rem for the father and 125 rem for the mother. (auth.)

  3. Melanoma genetics

    DEFF Research Database (Denmark)

    Read, Jazlyn; Wadt, Karin A W; Hayward, Nicholas K

    2015-01-01

    Approximately 10% of melanoma cases report a relative affected with melanoma, and a positive family history is associated with an increased risk of developing melanoma. Although the majority of genetic alterations associated with melanoma development are somatic, the underlying presence of herita......Approximately 10% of melanoma cases report a relative affected with melanoma, and a positive family history is associated with an increased risk of developing melanoma. Although the majority of genetic alterations associated with melanoma development are somatic, the underlying presence...... in a combined total of approximately 50% of familial melanoma cases, the underlying genetic basis is unexplained for the remainder of high-density melanoma families. Aside from the possibility of extremely rare mutations in a few additional high penetrance genes yet to be discovered, this suggests a likely...... polygenic component to susceptibility, and a unique level of personal melanoma risk influenced by multiple low-risk alleles and genetic modifiers. In addition to conferring a risk of cutaneous melanoma, some 'melanoma' predisposition genes have been linked to other cancers, with cancer clustering observed...

  4. Operative Links

    DEFF Research Database (Denmark)

    Wistoft, Karen; Højlund, Holger

    2012-01-01

    educational approaches. Methods: Mixed qualitative design: survey based on telephone interviews with health managers (n=72), personal and focus group interviews with health professionals (n=84) and pupils (n=108) from 18 school classes, and comparative case studies in five selected municipalities of various...... educational goals, learning content, or value clarification. Health pedagogy is often a matter of retrospective rationalization rather than the starting point of planning. Health and risk behaviour approaches override health educational approaches. Conclusions: Operational links between health education...

  5. HER2 Genetic Link to Breast Cancer

    Science.gov (United States)

    When researchers discovered the HER2 gene's importance to breast cancer growth, this led to the development of trastuzumab and other treatments that have improved survival for women with HER2-positive breast cancer.

  6. Immunocompetence in Drosophila: linking genetic to phenotypic ...

    Indian Academy of Sciences (India)

    Unknown

    Immunity can be classified into two types, namely innate and adaptive immunity. Innate immunity provides a gene- ralized response against the invading pathogens, whereas adaptive immunity is mediated through the production of antigen-specific antibodies against the antigen, and inclu- des a 'memory' that makes future ...

  7. Genetic effects

    International Nuclear Information System (INIS)

    Bender, M.A.; Abrahamson, S.; Denniston, C.; Schull, W.J.

    1989-01-01

    In this chapter, we present a comprehensive analysis of the major classes of genetic diseases that would be increased as a result of an increased gonadal radiation exposure to a human population. The risk analysis takes on two major forms: the increase in genetic disease that would be observed in the immediate offspring of the exposed population, and the subsequent transmission of the newly induced mutations through future generations. The major classes of genetic disease will be induced at different frequencies, and will also impact differentially in terms of survivability and fertility on the affected individuals and their descendants. Some classes of disease will be expected to persist for only a few generations at most. Other types of genetic disease will persist through a longer period. The classes of genetic diseases studied are: dominant gene mutation, X-linked gene mutation, chromosome disorders and multifactorial disorders which involve the interaction of many mutant genes and environmental factors. For each of these classes we have derived the general equations of mutation induction for the male and female germ cells of critical importance in the mutation process. The frequency of induced mutations will be determined initially by the dose received, the type of radiation and, to some extent at high dose, by the manner in which the dose is received. We have used the modeling analyses to predict the outcomes for two nuclear power plant accident scenarios, the first in which the population receives a chronic dose of 0.1 Gy (10 rad) over a 50-year period, the second in which an equivalent population receives an acute dose of 2 Gy. In both cases the analyses are projected over a period of five generations

  8. Genetic of the ABO blood system and its link with the immune system A genética do sistema ABO e sua relação com o sistema imune

    Directory of Open Access Journals (Sweden)

    Luiz C. de Mattos

    2004-03-01

    Full Text Available In the book "Eat Right For Your Type" the author Peter J. D'Adamo writes that the O blood type was the first blood type to appear in humans and affirms that the blood groups are the key to the immune system. Some recent phylogenetic network studies in humans and non-human primates implies that the A gene represents an ancient form of the ABO genes. Relationships between blood groups and infectious and noninfectious diseases and immunodeficiency abnormalities have also been reported in the literature. As D'Adamo's propositions seem to be in opposition with the current knowledge, we present in this paper some comments about the genetics and the evolution of the ABO blood group genes and some links between this blood system and the functioning of the immune system.Peter J. D'Adamo, autor do livro "Eat Right For Your Type", escreve que o grupo O representa o primeiro tipo sangüíneo que surgiu nos humanos e também afirma que os grupos sangüíneos constituem as bases do sistema imune. Recentes estudos filogenéticos realizados em primatas humanos e não humanos estabeleceram que o gene A representa a forma ancestral dos genes que ocupam o locus ABO. Associações entre os grupos sangüíneos ABO, doenças infecciosas, não infecciosas e imunodeficiências também foram relatadas. Diante das proposições do autor, as quais se opõem às informações resultantes de recentes estudos moleculares e filogenéticos, nossa intenção é apresentar algumas reflexões sobre a genética e a evolução dos genes do sistema ABO e as conexões deste sistema com o sistema imune.

  9. Genetics Home Reference: activated PI3K-delta syndrome

    Science.gov (United States)

    ... Conditions Diagnosis & Management Resources Genetic Testing (1 link) Genetic Testing Registry: Immunodeficiency 14 Other Diagnosis and Management Resources (1 link) National Institute of Allergy and Infectious Diseases: Primary Immune Deficiency Diseases: Talking to Your Doctor ...

  10. Genetics Home Reference: frontotemporal dementia with parkinsonism-17

    Science.gov (United States)

    ... Practice Guideline for the Treatment of Patients with Alzheimer's Disease and Other Dementias (PDF) Genetic Testing (1 link) Genetic Testing Registry: Frontotemporal dementia Other Diagnosis and Management Resources (1 link) GeneReview: MAPT-Related ...

  11. A review of a method for dynamic load distribution, dynamic modeling, and explicit internal force control when two serial link manipulators mutually lift and transport a rigid body object

    Energy Technology Data Exchange (ETDEWEB)

    Unseren, M.A.

    1997-09-01

    The report reviews a method for modeling and controlling two serial link manipulators which mutually lift and transport a rigid body object in a three dimensional workspace. A new vector variable is introduced which parameterizes the internal contact force controlled degrees of freedom. A technique for dynamically distributing the payload between the manipulators is suggested which yields a family of solutions for the contact forces and torques the manipulators impart to the object. A set of rigid body kinematic constraints which restricts the values of the joint velocities of both manipulators is derived. A rigid body dynamical model for the closed chain system is first developed in the joint space. The model is obtained by generalizing the previous methods for deriving the model. The joint velocity and acceleration variables in the model are expressed in terms of independent pseudovariables. The pseudospace model is transformed to obtain reduced order equations of motion and a separate set of equations governing the internal components of the contact forces and torques. A theoretic control architecture is suggested which explicitly decouples the two sets of equations comprising the model. The controller enables the designer to develop independent, non-interacting control laws for the position control and internal force control of the system.

  12. Genetics Home Reference: nonbullous congenital ichthyosiform erythroderma

    Science.gov (United States)

    ... red (erythroderma) and covered with fine, white scales (ichthyosis). Infants with NBCIE may develop infections, an excessive ... 8 links) Genetic Testing Registry: Autosomal recessive congenital ichthyosis 2 Genetic Testing Registry: Autosomal recessive congenital ichthyosis ...

  13. Genetics Home Reference: GM2-gangliosidosis, AB variant

    Science.gov (United States)

    ... can be inherited? More about Inheriting Genetic Conditions Diagnosis & Management Resources Genetic Testing (1 link) Genetic Testing Registry: Tay-Sachs disease, variant AB General Information from MedlinePlus (5 ...

  14. Genetics Home Reference: complement component 2 deficiency

    Science.gov (United States)

    ... Topic: Immune System and Disorders Health Topic: Lupus Genetic and Rare Diseases Information Center (1 link) Complement component 2 deficiency Additional NIH Resources (1 link) National Institute of Allergy and Infectious Diseases: Primary Immune Deficiency Diseases Educational Resources (6 ...

  15. Genetics Home Reference: IRAK-4 deficiency

    Science.gov (United States)

    ... Encyclopedia: Septicemia Health Topic: Immune System and Disorders Genetic and Rare Diseases Information Center (1 link) IRAK-4 deficiency Additional NIH Resources (1 link) National Institute of Allergy and Infectious Diseases: Primary Immune Deficiency Diseases Educational Resources (2 ...

  16. Genetics Home Reference: common variable immune deficiency

    Science.gov (United States)

    ... Autoimmune Diseases Health Topic: Immune System and Disorders Genetic and Rare Diseases Information Center (1 link) Common variable immunodeficiency Additional NIH Resources (2 links) National Institute of Allergy and Infectious Diseases: Immune System National Institute of Allergy and ...

  17. Genetics Home Reference: Chediak-Higashi syndrome

    Science.gov (United States)

    ... Higashi syndrome Health Topic: Immune System and Disorders Genetic and Rare Diseases Information Center (1 link) Chediak-Higashi syndrome Additional NIH Resources (1 link) National Institute of Allergy and Infectious Diseases: Primary Immune Deficiency Diseases Educational Resources (4 ...

  18. Genetics Home Reference: auriculo-condylar syndrome

    Science.gov (United States)

    ... Health Topic: Jaw Injuries and Disorders Health Topic: Temporomandibular Joint Dysfunction Genetic and Rare Diseases Information Center (1 link) Auriculo-condylar syndrome Educational Resources (6 links) American ... InfoSearch: Dysgnathia Complex MalaCards: auriculo-condylar ...

  19. Genetics Home Reference: benign chronic pemphigus

    Science.gov (United States)

    ... Other Diagnosis and Management Resources (1 link) American Osteopathic College of Dermatology General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and ...

  20. Genetics Home Reference: DICER1 syndrome

    Science.gov (United States)

    ... Encyclopedia: Sertoli-Leydig Cell Tumor Health Topic: Cancer Genetic and Rare Diseases Information Center (1 link) DICER1-related pleuropulmonary blastoma cancer predisposition syndrome Additional NIH Resources (1 link) National Cancer ...

  1. Genetics for the ophthalmologist.

    Science.gov (United States)

    Sadagopan, Karthikeyan A; Capasso, Jenina; Levin, Alex V

    2012-09-01

    The eye has played a major role in human genomics including gene therapy. It is the fourth most common organ system after integument (skin, hair and nails), nervous system, and musculoskeletal system to be involved in genetic disorders. The eye is involved in single gene disorders and those caused by multifactorial etiology. Retinoblastoma was the first human cancer gene to be cloned. Leber hereditary optic neuropathy was the first mitochondrial disorder described. X-Linked red-green color deficiency was the first X-linked disorder described. The eye, unlike any other body organ, allows directly visualization of genetic phenomena such as skewed X-inactivation in the fundus of a female carrier of ocular albinism. Basic concepts of genetics and their application to clinical ophthalmological practice are important not only in making a precise diagnosis and appropriate referral, but also in management and genetic counseling.

  2. Genetics for the ophthalmologist

    Directory of Open Access Journals (Sweden)

    Karthikeyan A Sadagopan

    2012-01-01

    Full Text Available The eye has played a major role in human genomics including gene therapy. It is the fourth most common organ system after integument (skin, hair and nails, nervous system, and musculoskeletal system to be involved in genetic disorders. The eye is involved in single gene disorders and those caused by multifactorial etiology. Retinoblastoma was the first human cancer gene to be cloned. Leber hereditary optic neuropathy was the first mitochondrial disorder described. X-Linked red-green color deficiency was the first X-linked disorder described. The eye, unlike any other body organ, allows directly visualization of genetic phenomena such as skewed X-inactivation in the fundus of a female carrier of ocular albinism. Basic concepts of genetics and their application to clinical ophthalmological practice are important not only in making a precise diagnosis and appropriate referral, but also in management and genetic counseling.

  3. Electrical load detection aparatus

    DEFF Research Database (Denmark)

    2010-01-01

    A load detection technique for a load comprising multiple frequency-dependant sub-loads comprises measuring a representation of the impedance characteristic of the load; providing stored representations of a multiplicity of impedance characteristics of the load; each one of the stored representat...

  4. Genetics Home Reference: MyD88 deficiency

    Science.gov (United States)

    ... Encyclopedia: Septicemia Health Topic: Immune System and Disorders Genetic and Rare Diseases Information Center (1 link) MYD88 deficiency Additional NIH Resources (1 link) National Institute of Allergy and Infectious Diseases Educational Resources (3 links) KidsHealth: Immune System ...

  5. Safeguarding Our Genetic Resources with Libraries of Doubled-Haploid Lines.

    Science.gov (United States)

    Melchinger, Albrecht E; Schopp, Pascal; Müller, Dominik; Schrag, Tobias A; Bauer, Eva; Unterseer, Sandra; Homann, Linda; Schipprack, Wolfgang; Schön, Chris-Carolin

    2017-07-01

    Thousands of landraces are stored in seed banks as "gold reserves" for future use in plant breeding. In many crops, their utilization is hampered because they represent heterogeneous populations of heterozygous genotypes, which harbor a high genetic load. We show, with high-density genotyping in five landraces of maize, that libraries of doubled-haploid (DH) lines capture the allelic diversity of genetic resources in an unbiased way. By comparing allelic differentiation between heterozygous plants from the original landraces and 266 derived DH lines, we find conclusive evidence that, in the DH production process, sampling of alleles is random across the entire allele frequency spectrum, and purging of landraces from their genetic load does not act on specific genomic regions. Based on overall process efficiency, we show that generating DH lines is feasible for genetic material that has never been selected for inbreeding tolerance. We conclude that libraries of DH lines will make genetic resources accessible to crop improvement by linking molecular inventories of seed banks with meaningful phenotypes. Copyright © 2017 by the Genetics Society of America.

  6. Distribution load estimation (DLE)

    Energy Technology Data Exchange (ETDEWEB)

    Seppaelae, A.; Lehtonen, M. [VTT Energy, Espoo (Finland)

    1998-08-01

    The load research has produced customer class load models to convert the customers` annual energy consumption to hourly load values. The reliability of load models applied from a nation-wide sample is limited in any specific network because many local circumstances are different from utility to utility and time to time. Therefore there is a need to find improvements to the load models or, in general, improvements to the load estimates. In Distribution Load Estimation (DLE) the measurements from the network are utilized to improve the customer class load models. The results of DLE will be new load models that better correspond to the loading of the distribution network but are still close to the original load models obtained by load research. The principal data flow of DLE is presented

  7. Genetic predisposition to increased blood cholesterol and triglyceride lipid levels and risk of Alzheimer disease: a Mendelian randomization analysis.

    Science.gov (United States)

    Proitsi, Petroula; Lupton, Michelle K; Velayudhan, Latha; Newhouse, Stephen; Fogh, Isabella; Tsolaki, Magda; Daniilidou, Makrina; Pritchard, Megan; Kloszewska, Iwona; Soininen, Hilkka; Mecocci, Patrizia; Vellas, Bruno; Williams, Julie; Stewart, Robert; Sham, Pak; Lovestone, Simon; Powell, John F

    2014-09-01

    Although altered lipid metabolism has been extensively implicated in the pathogenesis of Alzheimer disease (AD) through cell biological, epidemiological, and genetic studies, the molecular mechanisms linking cholesterol and AD pathology are still not well understood and contradictory results have been reported. We have used a Mendelian randomization approach to dissect the causal nature of the association between circulating lipid levels and late onset AD (LOAD) and test the hypothesis that genetically raised lipid levels increase the risk of LOAD. We included 3,914 patients with LOAD, 1,675 older individuals without LOAD, and 4,989 individuals from the general population from six genome wide studies drawn from a white population (total n=10,578). We constructed weighted genotype risk scores (GRSs) for four blood lipid phenotypes (high-density lipoprotein cholesterol [HDL-c], low-density lipoprotein cholesterol [LDL-c], triglycerides, and total cholesterol) using well-established SNPs in 157 loci for blood lipids reported by Willer and colleagues (2013). Both full GRSs using all SNPs associated with each trait at pGenetic predisposition to increased blood cholesterol and triglyceride lipid levels is not associated with elevated LOAD risk. The observed epidemiological associations between abnormal lipid levels and LOAD risk could therefore be attributed to the result of biological pleiotropy or could be secondary to LOAD. Limitations of this study include the small proportion of lipid variance explained by the GRS, biases in case-control ascertainment, and the limitations implicit to Mendelian randomization studies. Future studies should focus on larger LOAD datasets with longitudinal sampled peripheral lipid measures and other markers of lipid metabolism, which have been shown to be altered in LOAD. Please see later in the article for the Editors' Summary.

  8. Genetics Home Reference: CHOPS syndrome

    Science.gov (United States)

    ... Defects Patient Support and Advocacy Resources (4 links) American Heart Association Contact a Family: Heart Defects The Arc: For People with Intellectual and Developmental Disabilities University of Kansas Genetics Education Center Resource List: ...

  9. Genetics Home Reference: Kuskokwim syndrome

    Science.gov (United States)

    ... region of southwest Alaska known as the Kuskokwim River Delta. In Kuskokwim syndrome , contractures most commonly affect ... syndrome 1 General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery ...

  10. Genetics Home Reference: osteogenesis imperfecta

    Science.gov (United States)

    ... two extremes. Increasingly, genetic factors are used to define the different forms of osteogenesis imperfecta . The milder ... for Links Data Files & API Site Map Subscribe Customer Support USA.gov Copyright Privacy Accessibility FOIA Viewers & ...

  11. Genetics Home Reference: metachromatic leukodystrophy

    Science.gov (United States)

    ... 1 in 75 in a small group of Jews who immigrated to Israel from southern Arabia (Habbanites), ... from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How ...

  12. Genetics Home Reference: argininosuccinic aciduria

    Science.gov (United States)

    ... aciduria My46 Trait Profile Orphanet: Argininosuccinic aciduria Screening, Technology and Research in Genetics Vanderbilt Children's Hospital (PDF) Virginia Department of Health (PDF) Patient Support and Advocacy Resources (4 links) ...

  13. Alcohol Alert: Genetics of Alcoholism

    Science.gov (United States)

    ... and Reports » Alcohol Alert » Alcohol Alert Number 84 Alcohol Alert Number 84 Print Version The Genetics of ... immune defense system. Genes Encoding Enzymes Involved in Alcohol Breakdown Some of the first genes linked to ...

  14. Plutonium immobilization -- Can loading

    International Nuclear Information System (INIS)

    Kriikku, E.

    2000-01-01

    The Savannah River Site (SRS) will immobilize excess plutonium in the proposed Plutonium Immobilization Project (PIP). The PIP adds the excess plutonium to ceramic pucks, loads the pucks into cans, and places the cans into DWPF canisters. This paper discusses the PIP process steps, the can loading conceptual design, can loading equipment design, and can loading work completed

  15. Genetic transformation of forest trees

    African Journals Online (AJOL)

    Admin

    the stress from the regeneration process. We hope that the great progress achieved in the biology of. Agrobacterium and the expression of the genes playing key role in plant development will be helpful in solving the constraint linked to the genetic transformation of forest trees. Genetic transformation of forest trees offers a ...

  16. Haldane and modern evolutionary genetics

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics; Volume 96; Issue 5. Haldane and modern evolutionary genetics. BRIAN CHARLESWORTH. HALDANE AT 125 Volume 96 Issue 5 November 2017 pp 773-782. Fulltext. Click here to view fulltext PDF. Permanent link: http://www.ias.ac.in/article/fulltext/jgen/096/05/0773-0782. Keywords.

  17. Difficulties in Genetics Problem Solving.

    Science.gov (United States)

    Tolman, Richard R.

    1982-01-01

    Examined problem-solving strategies of 30 high school students as they solved genetics problems. Proposes a new sequence of teaching genetics based on results: meiosis, sex chromosomes, sex determination, sex-linked traits, monohybrid and dihybrid crosses (humans), codominance (humans), and Mendel's pea experiments. (JN)

  18. Genetic and bibliographic information: ACSL4 [GenLibi

    Lifescience Database Archive (English)

    Full Text Available nked (MeSH); X-linked mental retardation; non-syndromic X-linked mental retardation Nervous System Diseases ...ital, Hereditary, and Neonatal Diseases and Abnormalities (C16) > Genetic Diseases, Inborn (C16.320) > Genetic Diseases..., X-Linked (C16.320.322) > Mental Retardation, X-Linked (C16.320.322.500) Congenital, Hereditary, and Neonatal Diseases... and Abnormalities (C16) > Genetic Diseases, Inborn (C16.32

  19. Genetics Home Reference: phosphoglycerate mutase deficiency

    Science.gov (United States)

    ... Resources Genetic Testing (1 link) Genetic Testing Registry: Glycogen storage disease type X General Information from MedlinePlus (5 links) ... Other Names for This Condition deficiency mutase phosphoglycerate glycogen storage disease X GSD X GSD10 GSDX myopathy due to ...

  20. Loads and loads and loads: the influence of prospective load, retrospective load, and ongoing task load in prospective memory

    Science.gov (United States)

    Meier, Beat; Zimmermann, Thomas D.

    2015-01-01

    In prospective memory tasks different kinds of load can occur. Adding a prospective memory task can impose a load on ongoing task performance. Adding ongoing task load (OTL) can affect prospective memory performance. The existence of multiple target events increases prospective load (PL) and adding complexity to the to-be-remembered action increases retrospective load (RL). In two experiments, we systematically examined the effects of these different types of load on prospective memory performance. Results showed an effect of PL on costs in the ongoing task for categorical targets (Experiment 2), but not for specific targets (Experiment 1). RL and OTL both affected remembering the retrospective component of the prospective memory task. We suggest that PL can enhance costs in the ongoing task due to additional monitoring requirements. RL and OTL seem to impact the division of resources between the ongoing task and retrieval of the retrospective component, which may affect disengagement from the ongoing task. In general, the results demonstrate that the different types of load affect prospective memory differentially. PMID:26082709

  1. Preimplantation genetic diagnosis.

    Science.gov (United States)

    Black, S H

    1994-12-01

    Preimplantation genetic diagnosis now represents an alternative reproductive option for parents at high risk of having offspring affected with certain genetic diseases. Progress in the past year has included increasing reliability in embryo sexing by both polymerase chain reaction and fluorescent in situ hybridization techniques; delivery of babies free of specific diseases such as cystic fibrosis, Lesch-Nyhan syndrome, and Tay-Sachs disease; and successful development of molecular techniques for detecting common diseases such as fragile-X syndrome. In addition, sperm separation in combination with preimplantation genetic diagnosis appears to be an exciting advance in yielding more in vitro fertilization female embryos for transfer and subsequent pregnancy in families at risk for X-linked diseases. Accumulated world experience can now be reviewed to provide couples considering preimplantation genetic diagnosis with observed pregnancy rates and accuracy of diagnosis.

  2. Parametric Identification of Aircraft Loads: An Artificial Neural Network Approach

    Science.gov (United States)

    2016-03-30

    Undergraduate Student Paper Postgraduate Student Paper Parametric Identification of Aircraft Loads: An Artificial Neural Network Approach...monitoring, flight parameter, nonlinear modeling, Artificial Neural Network , typical loadcase. Introduction Aircraft load monitoring is an... Neural Networks (ANN), i.e. the BP network and Kohonen Clustering Network , are applied and revised by Kalman Filter and Genetic Algorithm to build

  3. Wind Loads on Structures

    DEFF Research Database (Denmark)

    Dyrbye, Claes; Hansen, Svend Ole

    Wind loads have to be taken into account when designing civil engineering structures. The wind load on structures can be systematised by means of the wind load chain: wind climate (global), terrain (wind at low height), aerodynamic response (wind load to pressure), mechanical response (wind...... pressure to structural response) and design criteria. Starting with an introduction of the wind load chain, the book moves on to meteorological considerations, atmospheric boundary layer, static wind load, dynamic wind load and scaling laws used in wind-tunnel tests. The dynamic wind load covers vibrations...... induced by wind turbulence, vortex shedding, flutter and galloping. The book gives a comprehensive treatment of wind effects on structures and it will be useful for consulting engineers designing wind-sensitive structures. It will also be valuable for students of civil engineering as textbook...

  4. Autonomous Propellant Loading Project

    Data.gov (United States)

    National Aeronautics and Space Administration — The AES Autonomous Propellant Loading (APL) project consists of three activities. The first is to develop software that will automatically control loading of...

  5. Fuel pellet loading apparatus

    International Nuclear Information System (INIS)

    1980-01-01

    Apparatus is described for loading a predetermined amount of nuclear fuel pellets into nuclear fuel elements and particularly for the automatic loading of fuel pellets from within a sealed compartment. (author)

  6. Limit loads in nozzles

    International Nuclear Information System (INIS)

    Zouain, N.

    1983-01-01

    The static method for the evaluation of the limit loads of a perfectly elasto-plastic structure is presented. Using the static theorem of Limit Analysis and the Finite Element Method, a lower bound for the colapso load can be obtained through a linear programming problem. This formulation if then applied to symmetrically loaded shells of revolution and some numerical results of limit loads in nozzles are also presented. (Author) [pt

  7. Foot positioning instruction, initial vertical load position and lifting technique: effects on low back loading

    OpenAIRE

    Kingma, I.; Bosch, T.; Bruins, L.; van Dieen, J.H.

    2004-01-01

    This study investigated the effects of initial load height and foot placement instruction in four lifting techniques: free, stoop (bending the back), squat (bending the knees) and a modified squat technique (bending the knees and rotating them outward). A 2D dynamic linked segment model was combined with an EMG assisted trunk muscle model to quantify kinematics and low back loading in 10 subjects performing 19 different lifting movements, using 10.5 kg boxes without handles. When lifting from...

  8. AutoBioCAD: full biodesign automation of genetic circuits.

    Science.gov (United States)

    Rodrigo, Guillermo; Jaramillo, Alfonso

    2013-05-17

    Synthetic regulatory networks with prescribed functions are engineered by assembling a reduced set of functional elements. We could also assemble them computationally if the mathematical models of those functional elements were predictive enough in different genetic contexts. Only after achieving this will we have libraries of models of biological parts able to provide predictive dynamical behaviors for most circuits constructed with them. We thus need tools that can automatically explore different genetic contexts, in addition to being able to use such libraries to design novel circuits with targeted dynamics. We have implemented a new tool, AutoBioCAD, aimed at the automated design of gene regulatory circuits. AutoBioCAD loads a library of models of genetic elements and implements evolutionary design strategies to produce (i) nucleotide sequences encoding circuits with targeted dynamics that can then be tested experimentally and (ii) circuit models for testing regulation principles in natural systems, providing a new tool for synthetic biology. AutoBioCAD can be used to model and design genetic circuits with dynamic behavior, thanks to the incorporation of stochastic effects, robustness, qualitative dynamics, multiobjective optimization, or degenerate nucleotide sequences, all facilitating the link with biological part/circuit engineering.

  9. Optimisation of the link volume for weakest link failure prediction in NBG-18 nuclear graphite

    International Nuclear Information System (INIS)

    Hindley, Michael P.; Groenwold, Albert A.; Blaine, Deborah C.; Becker, Thorsten H.

    2014-01-01

    This paper describes the process for approximating the optimal size of a link volume required for weakest link failure calculation in nuclear graphite, with NBG-18 used as an example. As part of the failure methodology, the link volume is defined in terms of two grouping criteria. The first criterion is a factor of the maximum grain size and the second criterion is a function of an equivalent stress limit. A methodology for approximating these grouping criteria is presented. The failure methodology employs finite element analysis (FEA) in order to predict the failure load, at 50% probability of failure. The average experimental failure load, as determined for 26 test geometries, is used to evaluate the accuracy of the weakest link failure calculations. The influence of the two grouping criteria on the failure load prediction is evaluated by defining an error in prediction across all test cases. Mathematical optimisation is used to find the minimum error across a range of test case failure predictions. This minimum error is shown to deliver the most accurate failure prediction across a whole range of components, although some test cases in the range predict conservative failure load. The mathematical optimisation objective function is penalised to account for non-conservative prediction of the failure load for any test case. The optimisation is repeated and a link volume found for conservative failure prediction. The failure prediction for each test case is evaluated, in detail, for the proposed link volumes. Based on the analysis, link design volumes for NBG-18 are recommended for either accurate or conservative failure prediction

  10. Linked data management

    CERN Document Server

    Hose, Katja; Schenkel, Ralf

    2014-01-01

    Linked Data Management presents techniques for querying and managing Linked Data that is available on today’s Web. The book shows how the abundance of Linked Data can serve as fertile ground for research and commercial applications. The text focuses on aspects of managing large-scale collections of Linked Data. It offers a detailed introduction to Linked Data and related standards, including the main principles distinguishing Linked Data from standard database technology. Chapters also describe how to generate links between datasets and explain the overall architecture of data integration systems based on Linked Data. A large part of the text is devoted to query processing in different setups. After presenting methods to publish relational data as Linked Data and efficient centralized processing, the book explores lookup-based, distributed, and parallel solutions. It then addresses advanced topics, such as reasoning, and discusses work related to read-write Linked Data for system interoperation. Desp...

  11. Spatial electric load forecasting

    CERN Document Server

    Willis, H Lee

    2002-01-01

    Spatial Electric Load Forecasting Consumer Demand for Power and ReliabilityCoincidence and Load BehaviorLoad Curve and End-Use ModelingWeather and Electric LoadWeather Design Criteria and Forecast NormalizationSpatial Load Growth BehaviorSpatial Forecast Accuracy and Error MeasuresTrending MethodsSimulation Method: Basic ConceptsA Detailed Look at the Simulation MethodBasics of Computerized SimulationAnalytical Building Blocks for Spatial SimulationAdvanced Elements of Computerized SimulationHybrid Trending-Simulation MethodsAdvanced

  12. Point Coordination Function WLAN Traffic Loadings | Ani | Nigerian ...

    African Journals Online (AJOL)

    WLAN's ability to provide high capacity links, mobility and low acquisition cost played considerable positive role in its popularity. The operation of WLAN in ... traffic loadings is presented. Influence of traffic loadings on WLAN quality of service (QoS) parameters was analyzed using computer simulation modeling technique.

  13. Load frequency control of an asynchronous restructured power ...

    African Journals Online (AJOL)

    user

    This paper presents the analysis of load frequency control (LFC) of a two-area restructured power system interconnected via parallel ac/dc ... Keywords: Asynchronous tie-lines; Restructured power system; HVDC transmission links; Load frequency control; Fuzzy Logic ..... Automation, and Systems, Vol.4, No.2, pp.155-164.

  14. Analysis of recessive sex-linked lethal mutations in genetically different strains of Drosophila melanogaster ms and w irradiated in the five-kilometer zone of the Chernobyl meltdown

    International Nuclear Information System (INIS)

    Aslanyan, M.M.; Kim, A.I.; Magomedova, M.A.; Fatkulbayanova, N.L.

    1994-01-01

    The frequency of induced and spontaneous recessive sex-linked lethal mutations (RSLLM) in Drosophila melanogaster strains w and ms was estimated after their chronic irradiation in the five-kilometer zone of the Chernobyl' meltdown. The mutagenic effect of relatively low radiation doses was analyzed. In an experiment conducted in 1990, a significant increase in the RSLLM frequency was recorded, while, in 1991, no significant difference between the experiment and control was found

  15. TWSTFT Link Calibration Report

    Science.gov (United States)

    2015-09-01

    traveling calibration station (calibrator) consisting of N (≥2) GNSS receivers+antennas+cables and PPS/frequency-distributors. It is a pre-cabled black...the PTB is taken as the reference of the calibration, a GNSS time link correction is equal to the classic GNSS equipment calibration correction [8...TWSTFT link calibration. If we replace the TWSTFT link by a GNSS link or a optical fiber (OF), it becomes a GNSS or an OF time link calibration. This

  16. Maximum allowable load on wheeled mobile manipulators

    International Nuclear Information System (INIS)

    Habibnejad Korayem, M.; Ghariblu, H.

    2003-01-01

    This paper develops a computational technique for finding the maximum allowable load of mobile manipulator during a given trajectory. The maximum allowable loads which can be achieved by a mobile manipulator during a given trajectory are limited by the number of factors; probably the dynamic properties of mobile base and mounted manipulator, their actuator limitations and additional constraints applied to resolving the redundancy are the most important factors. To resolve extra D.O.F introduced by the base mobility, additional constraint functions are proposed directly in the task space of mobile manipulator. Finally, in two numerical examples involving a two-link planar manipulator mounted on a differentially driven mobile base, application of the method to determining maximum allowable load is verified. The simulation results demonstrates the maximum allowable load on a desired trajectory has not a unique value and directly depends on the additional constraint functions which applies to resolve the motion redundancy

  17. Mapping the x-linked lymphoproliferative syndrome

    International Nuclear Information System (INIS)

    Skare, J.C.; Milunsky, A.; Byron, K.S.; Sullivan, J.L.

    1987-01-01

    The X-linked lymphoproliferative syndrome is triggered by Epstein-Barr virus infection and results in fatal mononucleosis, immunodeficiency, and lymphoproliferative disorders. This study shows that the mutation responsible for X-linked lymphoproliferative syndrome is genetically linked to a restriction fragment length polymorphism detected with the DXS42 probe (from Xq24-q27). The most likely recombination frequency between the loci is 4%, and the associated logarithm of the odds is 5.26. Haplotype analysis using flanking restriction fragment length polymorphism markers indicates that the locus for X-linked lymphoproliferative syndrome is distal to probe DXS42 but proximal to probe DXS99 (from Xq26-q27). It is now possible to predict which members of a family with X-linked lymphoproliferative syndrome are carrier females and to diagnose the syndrome prenatally

  18. Network reconfiguration for loss reduction in electrical distribution system using genetic algorithm

    International Nuclear Information System (INIS)

    Adail, A.S.A.A.

    2012-01-01

    Distribution system is a critical links between the utility and the nuclear installation. During feeding electricity to that installation there are power losses. The quality of the network depends on the reduction of these losses. Distribution system which feeds the nuclear installation must have a higher quality power. For example, in Inshas site, electrical power is supplied to it from two incoming feeders (one from new abu-zabal substation and the other from old abu-zabal substation). Each feeder is designed to carry the full load, while the operator preferred to connect with a new abu-zabal substation, which has a good power quality. Bad power quality affects directly the nuclear reactor and has a negative impact on the installed sensitive equipment's of the operation. The thesis is Studying the electrical losses in a distribution system (causes and effected factors), feeder reconfiguration methods, and applying of genetic algorithm in an electric distribution power system. In the end, this study proposes an optimization technique based on genetic algorithms for distribution network reconfiguration to reduce the network losses to minimum. The proposed method is applied to IEEE test network; that contain 3 feeders and 16 nodes. The technique is applied through two groups, distribution have general loads, and nuclear loads. In the groups the technique applied to seven cases at normal operation state, system fault condition as well as different loads conditions. Simulated results are drawn to show the accuracy of the technique.

  19. Context Based Wikipedia Linking

    Science.gov (United States)

    Granitzer, Michael; Seifert, Christin; Zechner, Mario

    Automatically linking Wikipedia pages can be done either content based by exploiting word similarities or structure based by exploiting characteristics of the link graph. Our approach focuses on a content based strategy by detecting Wikipedia titles as link candidates and selecting the most relevant ones as links. The relevance calculation is based on the context, i.e. the surrounding text of a link candidate. Our goal was to evaluate the influence of the link-context on selecting relevant links and determining a links best-entry-point. Results show, that a whole Wikipedia page provides the best context for resolving link and that straight forward inverse document frequency based scoring of anchor texts achieves around 4% less Mean Average Precision on the provided data set.

  20. Optimisation of load control

    Energy Technology Data Exchange (ETDEWEB)

    Koponen, P. [VTT Energy, Espoo (Finland)

    1998-08-01

    Electricity cannot be stored in large quantities. That is why the electricity supply and consumption are always almost equal in large power supply systems. If this balance were disturbed beyond stability, the system or a part of it would collapse until a new stable equilibrium is reached. The balance between supply and consumption is mainly maintained by controlling the power production, but also the electricity consumption or, in other words, the load is controlled. Controlling the load of the power supply system is important, if easily controllable power production capacity is limited. Temporary shortage of capacity causes high peaks in the energy price in the electricity market. Load control either reduces the electricity consumption during peak consumption and peak price or moves electricity consumption to some other time. The project Optimisation of Load Control is a part of the EDISON research program for distribution automation. The following areas were studied: Optimization of space heating and ventilation, when electricity price is time variable, load control model in power purchase optimization, optimization of direct load control sequences, interaction between load control optimization and power purchase optimization, literature on load control, optimization methods and field tests and response models of direct load control and the effects of the electricity market deregulation on load control. An overview of the main results is given in this chapter

  1. Advances in human genetics

    Energy Technology Data Exchange (ETDEWEB)

    Harris, H.; Hirschhorn, K. (eds.)

    1993-01-01

    This book has five chapters covering peroxisomal diseases, X-linked immunodeficiencies, genetic mutations affecting human lipoproteins and their receptors and enzymes, genetic aspects of cancer, and Gaucher disease. The chapter on peroxisomes covers their discovery, structure, functions, disorders, etc. The chapter on X-linked immunodeficiencies discusses such diseases as agammaglobulinemia, severe combined immunodeficiency, Wiskott-Aldrich syndrome, animal models, linkage analysis, etc. Apolipoprotein formation, synthesis, gene regulation, proteins, etc. are the main focus of chapter 3. The chapter on cancer covers such topics as oncogene mapping and the molecular characterization of some recessive oncogenes. Gaucher disease is covered from its diagnosis, classification, and prevention, to its organ system involvement and molecular biology.

  2. Genetic Disorders

    Science.gov (United States)

    ... This can cause a medical condition called a genetic disorder. You can inherit a gene mutation from ... during your lifetime. There are three types of genetic disorders: Single-gene disorders, where a mutation affects ...

  3. Genetic Testing

    Science.gov (United States)

    ... risk factor for the development of celiac disease, genetic predisposition. Without this factor, it is impossible that the ... with antibody testing in the future. When the genetic predisposition for celiac disease was detected (on Chromosome 6) ...

  4. Genetic counseling

    Science.gov (United States)

    ... have a high risk of having babies with Tay-Sachs or Canavan's disease. African-Americans, who may risk ... yours to make. Images Genetic counseling and prenatal diagnosis References Simpson JL, Holzgreve W, Driscoll DA. Genetic ...

  5. Genetic risk

    OpenAIRE

    ten Kate, Leo P.

    2012-01-01

    In this paper I will review different aspects of genetic risk in the context of preconception care. I restrict myself to the knowledge of risk which is relevant for care and/or enables reproductive choice. The paper deals with chromosomes, genes and the genetic classification of diseases, and it explains why Mendelian disorders frequently do not show the expected pattern of occurrence in families. Factors that amplify genetic risk are also discussed. Of the two methods of genetic risk assessm...

  6. What Use Is Population Genetics?

    Science.gov (United States)

    Charlesworth, Brian

    2015-07-01

    The Genetic Society of America's Thomas Hunt Morgan Medal is awarded to an individual GSA member for lifetime achievement in the field of genetics. For over 40 years, 2015 recipient Brian Charlesworth has been a leader in both theoretical and empirical evolutionary genetics, making substantial contributions to our understanding of how evolution acts on genetic variation. Some of the areas in which Charlesworth's research has been most influential are the evolution of sex chromosomes, transposable elements, deleterious mutations, sexual reproduction, and life history. He also developed the influential theory of background selection, whereby the recurrent elimination of deleterious mutations reduces variation at linked sites, providing a general explanation for the correlation between recombination rate and genetic variation. Copyright © 2015 by the Genetics Society of America.

  7. Genetics for the ophthalmologist

    OpenAIRE

    Sadagopan, Karthikeyan A.; Capasso, Jenina; Levin, Alex V.

    2012-01-01

    The eye has played a major role in human genomics including gene therapy. It is the fourth most common organ system after integument (skin, hair and nails), nervous system, and musculoskeletal system to be involved in genetic disorders. The eye is involved in single gene disorders and those caused by multifactorial etiology. Retinoblastoma was the first human cancer gene to be cloned. Leber hereditary optic neuropathy was the first mitochondrial disorder described. X-Linked red-green color de...

  8. Imaging Genetics

    Science.gov (United States)

    Munoz, Karen E.; Hyde, Luke W.; Hariri, Ahmad R.

    2009-01-01

    Imaging genetics is an experimental strategy that integrates molecular genetics and neuroimaging technology to examine biological mechanisms that mediate differences in behavior and the risks for psychiatric disorder. The basic principles in imaging genetics and the development of the field are discussed.

  9. Judaism, genetic screening and genetic therapy.

    Science.gov (United States)

    Rosner, F

    1998-01-01

    Genetic screening, gene therapy and other applications of genetic engineering are permissible in Judaism when used for the treatment, cure, or prevention of disease. Such genetic manipulation is not considered to be a violation of God's natural law, but a legitimate implementation of the biblical mandate to heal. If Tay-Sachs disease, diabetes, hemophilia, cystic fibrosis, Huntington's disease or other genetic diseases can be cured or prevented by "gene surgery," then it is certainly permitted in Jewish law. Genetic premarital screening is encouraged in Judaism for the purpose of discouraging at-risk marriages for a fatal illness such as Tay-Sachs disease. Neonatal screening for treatable conditions such as phenylketonuria is certainly desirable and perhaps required in Jewish law. Preimplantation screening and the implantation of only "healthy" zygotes into the mother's womb to prevent the birth of an affected child are probably sanctioned in Jewish law. Whether or not these assisted reproduction techniques may be used to choose the sex of one's offspring, to prevent the birth of a child with a sex-linked disease such as hemophilia, has not yet been ruled on by modern rabbinic decisions. Prenatal screening with the specific intent of aborting an affected fetus is not allowed according to most rabbinic authorities, although a minority view permits it "for great need." Not to have children if both parents are carriers of genetic diseases such as Tay-Sachs is not a Jewish option. Preimplantation screening is preferable. All screening test results must remain confidential. Judaism does not permit the alteration or manipulation of physical traits and characteristics such as height, eye and hair color, facial features and the like, when such change provides no useful benefit to mankind. On the other hand, it is permissible to clone organisms and microorganisms to facilitate the production of insulin, growth hormone, and other agents intended to benefit mankind and to

  10. Genetics and Genetic Testing in Pancreatic Cancer.

    Science.gov (United States)

    Whitcomb, David C; Shelton, Celeste A; Brand, Randall E

    2015-10-01

    Genetic testing of germline DNA is used in patients suspected of being at risk of pancreatic ductal adenocarcinoma (PDAC) to better define the individual's risk and to determine the mechanism of risk. A high genetic risk increases the pretest probability that a biomarker of early cancer is a true positive and warrants further investigation. The highest PDAC risk is generally associated with a hereditary predisposition. However, the majority of PDAC results from complex, progressive gene-environment interactions that currently fall outside the traditional risk models. Over many years, the combination of inflammation, exposure to DNA-damaging toxins, and failed DNA repair promote the accumulation of somatic mutations in pancreatic cells; PDAC risk is further increased by already present oncogenic germline mutations. Predictive models and new technologies are needed to classify patients into more accurate and mechanistic PDAC risk categories that can be linked to improved surveillance and preventative strategies. Copyright © 2015 AGA Institute. Published by Elsevier Inc. All rights reserved.

  11. Laterally loaded masonry

    DEFF Research Database (Denmark)

    Raun Gottfredsen, F.

    In this thesis results from experiments on mortar joints and masonry as well as methods of calculation of strength and deformation of laterally loaded masonry are presented. The strength and deformation capacity of mortar joints have been determined from experiments involving a constant compressive...... stress and increasing shear. The results show a transition to pure friction as the cohesion is gradually destroyed. An interface model of a mortar joint that can take into account this aspect has been developed. Laterally loaded masonry panels have also been tested and it is found to be characteristic...... that laterally loaded masonry exhibits a non-linear load-displacement behaviour with some ductility....

  12. Electrical load modeling

    Energy Technology Data Exchange (ETDEWEB)

    Valgas, Helio Moreira; Pinto, Roberto del Giudice R.; Franca, Carlos [Companhia Energetica de Minas Gerais (CEMIG), Belo Horizonte, MG (Brazil); Lambert-Torres, Germano; Silva, Alexandre P. Alves da; Pires, Robson Celso; Costa Junior, Roberto Affonso [Escola Federal de Engenharia de Itajuba, MG (Brazil)

    1994-12-31

    Accurate dynamic load models allow more precise calculations of power system controls and stability limits, which are critical mainly in the operation planning of power systems. This paper describes the development of a computer program (software) for static and dynamic load model studies using the measurement approach for the CEMIG system. Two dynamic load model structures are developed and tested. A procedure for applying a set of measured data from an on-line transient recording system to develop load models is described. (author) 6 refs., 17 figs.

  13. Concentrated loads on concrete

    DEFF Research Database (Denmark)

    Lorenzen, Karen Grøndahl; Nielsen, Mogens Peter

    1997-01-01

    This report deals with concentrated loads on concrete.A new upper bound solution in the axisymmetrical case of a point load in the center of the end face of a cylinder is developed.Based on previous work dealing with failure mechanisms and upper bound solutions, new approximate formulas are devel......This report deals with concentrated loads on concrete.A new upper bound solution in the axisymmetrical case of a point load in the center of the end face of a cylinder is developed.Based on previous work dealing with failure mechanisms and upper bound solutions, new approximate formulas...

  14. Load regulating expansion fixture

    International Nuclear Information System (INIS)

    Wagner, L.M.; Strum, M.J.

    1998-01-01

    A free standing self contained device for bonding ultra thin metallic films, such as 0.001 inch beryllium foils is disclosed. The device will regulate to a predetermined load for solid state bonding when heated to a bonding temperature. The device includes a load regulating feature, whereby the expansion stresses generated for bonding are regulated and self adjusting. The load regulator comprises a pair of friction isolators with a plurality of annealed copper members located there between. The device, with the load regulator, will adjust to and maintain a stress level needed to successfully and economically complete a leak tight bond without damaging thin foils or other delicate components. 1 fig

  15. Genetics of fibromyalgia.

    Science.gov (United States)

    Buskila, Dan; Neumann, Lily

    2005-10-01

    The pathogenesis of fibromyalgia (FM) and related conditions is not entirely understood. Recent evidence suggests that these syndromes may share heritable pathophysiologic features. Familial studies suggest that genetic and familial factors may play a role in the etiopathogenesis of these conditions. There is evidence that polymorphisms of genes in the serotoninergic and catecholaminergic systems are linked to the pathophysiology of FM and related conditions and are associated with personality traits. The precise role of genetic factors in the etiopathology of FM remains unknown, but it is likely that several genes are operating together to initiate this syndrome. Larger longitudinal studies are needed to better clarify the role of genetics in the development of FM.

  16. An ancestral human genetic variant linked to an ancient disease: A novel association of FMO2 polymorphisms with tuberculosis (TB in Ethiopian populations provides new insight into the differential ethno-geographic distribution of FMO2*1.

    Directory of Open Access Journals (Sweden)

    Ephrem Mekonnen

    Full Text Available The human FMO2 (flavin-containing monooxygenase 2 gene has been shown to be involved in innate immunity against microbial infections, including tuberculosis (TB, via the modulation of oxidative stress levels. It has also been found to possess a curious loss-of-function mutation (FMO2*1/FMO2*2 that demonstrates a distinctive differentiation in expression, function and ethno-geographic distribution. However, despite evidences of ethnic-specific genetic associations in the inflammatory profile of TB, no studies were done to investigate whether these patterns of variations correlate with evidences for the involvement of FMO2 in antimicrobial immune responses and ethnic differences in the distribution of FMO2 polymorphisms except for some pharmacogenetic data that suggest a potentially deleterious role for the functional variant (FMO2*1. This genetic epidemiological study was designed to investigate whether there is an association between FMO2 polymorphisms and TB, an ancient malady that remains a modern global health concern, in a sub-Saharan Africa setting where there is not only a relatively high co-prevalence of the disease and the ancestral FMO2*1 variant but also where both Mycobcaterium and Homo sapiens are considered to have originated and co-evolved. Blood samples and TB related clinical data were collected from ascertained TB cases and unrelated household controls (n = 292 from 3 different ethnic groups in Ethiopia. Latent Mtb infection was determined using Quantiferon to develop reliable TB progression phenotypes. We sequenced exonic regions of FMO2.We identified for the first time an association between FMO2 and TB both at the SNP and haplotype level. Two novel SNPs achieved a study-wide significance [chr1:171181877(A, p = 3.15E-07, OR = 4.644 and chr1:171165749(T, p = 3.32E-06, OR = 6.825] while multiple SNPs (22 showed nominal signals. The pattern of association suggested a protective effect of FMO2 against both active and latent TB

  17. Genetics Home Reference: Schimke immuno-osseous dysplasia

    Science.gov (United States)

    ... Immune System and Disorders Health Topic: Kidney Failure Genetic and Rare Diseases Information Center (1 link) Schimke immunoosseous dysplasia Additional NIH Resources (2 links) National Institute of Allergy and Infectious Diseases: Disorders of the Immune System National Institute ...

  18. Genetics Home Reference: bare lymphocyte syndrome type II

    Science.gov (United States)

    ... Immunodeficiency Disorders Health Topic: Immune System and Disorders Genetic and Rare Diseases Information Center (1 link) Bare lymphocyte syndrome 2 Additional NIH Resources (1 link) National Institute of Allergy and Infectious Diseases: Primary Immune Deficiency Diseases Educational Resources (6 ...

  19. Genetics Home Reference: nonsyndromic congenital nail disorder 10

    Science.gov (United States)

    ... Other Diagnosis and Management Resources (1 link) American Osteopathic College of Dermatology: Onycholysis General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and ...

  20. Genetics Home Reference: malignant migrating partial seizures of infancy

    Science.gov (United States)

    ... Testing (1 link) Genetic Testing Registry: Early infantile epileptic encephalopathy 14 Other Diagnosis and Management Resources (1 link) ... area? Other Names for This Condition early infantile epileptic encephalopathy 14 EIEE14 malignant migrating partial epilepsy of infancy ...

  1. Genetic diversity, inbreeding and cancer.

    Science.gov (United States)

    Ujvari, Beata; Klaassen, Marcel; Raven, Nynke; Russell, Tracey; Vittecoq, Marion; Hamede, Rodrigo; Thomas, Frédéric; Madsen, Thomas

    2018-03-28

    Genetic diversity is essential for adaptive capacities, providing organisms with the potential of successfully responding to intrinsic and extrinsic challenges. Although a clear reciprocal link between genetic diversity and resistance to parasites and pathogens has been established across taxa, the impact of loss of genetic diversity by inbreeding on the emergence and progression of non-communicable diseases, such as cancer, has been overlooked. Here we provide an overview of such associations and show that low genetic diversity and inbreeding associate with an increased risk of cancer in both humans and animals. Cancer being a multifaceted disease, loss of genetic diversity can directly (via accumulation of oncogenic homozygous mutations) and indirectly (via increased susceptibility to oncogenic pathogens) impact abnormal cell emergence and escape of immune surveillance. The observed link between reduced genetic diversity and cancer in wildlife may further imperil the long-term survival of numerous endangered species, highlighting the need to consider the impact of cancer in conservation biology. Finally, the somewhat incongruent data originating from human studies suggest that the association between genetic diversity and cancer development is multifactorial and may be tumour specific. Further studies are therefore crucial in order to elucidate the underpinnings of the interactions between genetic diversity, inbreeding and cancer. © 2018 The Author(s).

  2. Foot positioning instruction, initial vertical load position and lifting technique: effects on low back loading

    NARCIS (Netherlands)

    Kingma, I.; Bosch, T.; Bruins, L.; van Dieen, J.H.

    2004-01-01

    This study investigated the effects of initial load height and foot placement instruction in four lifting techniques: free, stoop (bending the back), squat (bending the knees) and a modified squat technique (bending the knees and rotating them outward). A 2D dynamic linked segment model was combined

  3. Cross-Linking Aromatic Polymers With Ionizing Radiation

    Science.gov (United States)

    Bell, Vernon L.; Havens, Stephen J.

    1987-01-01

    Resistance to heat and solvents increased. Certain aromatic polymers containing radiation-sensitive methylene groups cross-linked through methylene groups upon exposure to ionizing radiation. Cross-linked polymers resistant to most organic solvents and generally more resistant to high temperatures, with less tendency to creep under load. No significant embrittlement of parts fabricated from these polymers when degree of cross-linking, as controlled by irradiation dose, kept at moderate level.

  4. About Genetic Counselors

    Science.gov (United States)

    ... clinical care in many areas of medicine. Assisted Reproductive Technology/Infertility Genetics Cancer Genetics Cardiovascular Genetics Cystic Fibrosis Genetics Fetal Intervention and Therapy Genetics Hematology Genetics Metabolic Genetics ...

  5. Genetic influence on prolonged gestation

    DEFF Research Database (Denmark)

    Laursen, Maja; Bille, Camilla; Olesen, Annette Wind

    2004-01-01

    OBJECTIVE: The purpose of this study was to test a possible genetic component to prolonged gestation. STUDY DESIGN: The gestational duration of single, first pregnancies by both female and male twins was obtained by linking the Danish Twin Registry, The Danish Civil Registration System, and the D...... factors. CONCLUSION: Maternal genes influence prolonged gestation. However, a substantial paternal genetic influence through the fetus was not found....

  6. Genetic Variations in the Kir6.2 Subunit (KCNJ11 of Pancreatic ATP-Sensitive Potassium Channel Gene Are Associated with Insulin Response to Glucose Loading and Early Onset of Type 2 Diabetes in Childhood and Adolescence in Taiwan

    Directory of Open Access Journals (Sweden)

    Yi-Der Jiang

    2014-01-01

    Full Text Available To investigate the role of E23K polymorphism of the KCNJ11 gene on early onset of type 2 diabetes in school-aged children/adolescents in Taiwan, we recruited 38 subjects with type 2 diabetes (ages 18.6 ± 6.6 years; body mass index percentiles 83.3 ± 15.4 and 69 normal controls (ages 17.3 ± 3.8 years; body mass index percentiles 56.7 ± 29.0 from a national surveillance for childhood/adolescent diabetes in Taiwan. We searched for the E23K polymorphism of the KCNJ11 gene. We found that type 2 diabetic subjects had higher carrier rate of E23K polymorphism of KCNJ11 gene than control subjects (P = 0.044. After adjusting for age, gender, body mass index percentiles, and fasting plasma insulin, the E23K polymorphism contributed to an increased risk for type 2 diabetes (P = 0.047. K23-allele-containing genotypes conferring increased plasma insulin level during OGTT in normal subjects. However, the diabetic subjects with the K23-allele-containing genotypes had lower fasting plasma insulin levels after adjustment of age and BMI percentiles. In conclusion, the E23K variant of the KCNJ11 gene conferred higher susceptibility to type 2 diabetes in children/adolescents. Furthermore, in normal glucose-tolerant children/adolescents, K23 allele carriers had a higher insulin response to oral glucose loading.

  7. Coalgebraic structure of genetic inheritance.

    Science.gov (United States)

    Tian, Jianjun; Li, Bai-Lian

    2004-09-01

    Although in the broadly defined genetic algebra, multiplication suggests a forward direction of from parents to progeny, when looking from the reverse direction, it also suggests to us a new algebraic structure-coalge- braic structure, which we call genetic coalgebras. It is not the dual coalgebraic structure and can be used in the construction of phylogenetic trees. Math- ematically, to construct phylogenetic trees means we need to solve equations x([n]) = a, or x([n]) = b. It is generally impossible to solve these equations inalgebras. However, we can solve them in coalgebras in the sense of tracing back for their ancestors. A thorough exploration of coalgebraic structure in genetics is apparently necessary. Here, we develop a theoretical framework of the coalgebraic structure of genetics. From biological viewpoint, we defined various fundamental concepts and examined their elementary properties that contain genetic significance. Mathematically, by genetic coalgebra, we mean any coalgebra that occurs in genetics. They are generally noncoassociative and without counit; and in the case of non-sex-linked inheritance, they are cocommutative. Each coalgebra with genetic realization has a baric property. We have also discussed the methods to construct new genetic coalgebras, including cocommutative duplication, the tensor product, linear combinations and the skew linear map, which allow us to describe complex genetic traits. We also put forward certain theorems that state the relationship between gametic coalgebra and gametic algebra. By Brower's theorem in topology, we prove the existence of equilibrium state for the in-evolution operator.

  8. Genetic and bibliographic information: Rgs8 [GenLibi

    Lifescience Database Archive (English)

    Full Text Available linked mental retardation; non-syndromic X-linked mental retardation Nervous System Diseases (C10) > Neurolo...6.643) > Mental Retardation, X-Linked (C10.597.606.643.455) Congenital, Hereditary, and Neonatal Diseases... and Abnormalities (C16) > Genetic Diseases, Inborn (C16.320) > Genetic Diseases, X-...Linked (C16.320.322) > Mental Retardation, X-Linked (C16.320.322.500) Congenital, Hereditary, and Neonatal Diseases... and Abnormalities (C16) > Genetic Diseases, Inborn (C16.320) > Heredodege

  9. Electronic Load Bank

    Science.gov (United States)

    Huston, Steven W.

    1992-01-01

    Electronic load-bank circuit provides pulsed or continuous low-resistance load to imitate effect of short circuit on Ni/H2 or other electrochemical power cells. Includes safety/warning feature and taps for measurement of cell-output voltage and current.

  10. Load Balancing in Hypergraphs

    Science.gov (United States)

    Delgosha, Payam; Anantharam, Venkat

    2018-03-01

    Consider a simple locally finite hypergraph on a countable vertex set, where each edge represents one unit of load which should be distributed among the vertices defining the edge. An allocation of load is called balanced if load cannot be moved from a vertex to another that is carrying less load. We analyze the properties of balanced allocations of load. We extend the concept of balancedness from finite hypergraphs to their local weak limits in the sense of Benjamini and Schramm (Electron J Probab 6(23):13, 2001) and Aldous and Steele (in: Probability on discrete structures. Springer, Berlin, pp 1-72, 2004). To do this, we define a notion of unimodularity for hypergraphs which could be considered an extension of unimodularity in graphs. We give a variational formula for the balanced load distribution and, in particular, we characterize it in the special case of unimodular hypergraph Galton-Watson processes. Moreover, we prove the convergence of the maximum load under some conditions. Our work is an extension to hypergraphs of Anantharam and Salez (Ann Appl Probab 26(1):305-327, 2016), which considered load balancing in graphs, and is aimed at more comprehensively resolving conjectures of Hajek (IEEE Trans Inf Theory 36(6):1398-1414, 1990).

  11. Structural load combinations

    International Nuclear Information System (INIS)

    Hwang, H.; Reich, M.; Ellingwood, B.; Shinozuka, M.

    1985-01-01

    This paper presents the latest results of the program entitled, ''Probability Based Load Combinations For Design of Category I Structures''. In FY 85, a probability-based reliability analysis method has been developed to evaluate safety of shear wall structures. The shear walls are analyzed using stick models with beam elements and may be subjected to dead load, live load and in-plane eqrthquake. Both shear and flexure limit states are defined analytically. The limit state probabilities can be evaluated on the basis of these limit states. Utilizing the reliability analysis method mentioned above, load combinations for the design of shear wall structures have been established. The proposed design criteria are in the load and resistance factor design (LRFD) format. In this study, the resistance factors for shear and flexure and load factors for dead and live loads are preassigned, while the load factor for SSE is determined for a specified target limit state probability of 1.0 x 10 -6 or 1.0 x 10 -5 during a lifetime of 40 years. 23 refs., 9 tabs

  12. Global Cryptosporidium Loads from Livestock Manure.

    Science.gov (United States)

    Vermeulen, Lucie C; Benders, Jorien; Medema, Gertjan; Hofstra, Nynke

    2017-08-01

    Understanding the environmental pathways of Cryptosporidium is essential for effective management of human and animal cryptosporidiosis. In this paper we aim to quantify livestock Cryptosporidium spp. loads to land on a global scale using spatially explicit process-based modeling, and to explore the effect of manure storage and treatment on oocyst loads using scenario analysis. Our model GloWPa-Crypto L1 calculates a total global Cryptosporidium spp. load from livestock manure of 3.2 × 10 23 oocysts per year. Cattle, especially calves, are the largest contributors, followed by chickens and pigs. Spatial differences are linked to animal spatial distributions. North America, Europe, and Oceania together account for nearly a quarter of the total oocyst load, meaning that the developing world accounts for the largest share. GloWPa-Crypto L1 is most sensitive to oocyst excretion rates, due to large variation reported in literature. We compared the current situation to four alternative management scenarios. We find that although manure storage halves oocyst loads, manure treatment, especially of cattle manure and particularly at elevated temperatures, has a larger load reduction potential than manure storage (up to 4.6 log units). Regions with high reduction potential include India, Bangladesh, western Europe, China, several countries in Africa, and New Zealand.

  13. Optimal load scheduling in commercial and residential microgrids

    Science.gov (United States)

    Ganji Tanha, Mohammad Mahdi

    Residential and commercial electricity customers use more than two third of the total energy consumed in the United States, representing a significant resource of demand response. Price-based demand response, which is in response to changes in electricity prices, represents the adjustments in load through optimal load scheduling (OLS). In this study, an efficient model for OLS is developed for residential and commercial microgrids which include aggregated loads in single-units and communal loads. Single unit loads which include fixed, adjustable and shiftable loads are controllable by the unit occupants. Communal loads which include pool pumps, elevators and central heating/cooling systems are shared among the units. In order to optimally schedule residential and commercial loads, a community-based optimal load scheduling (CBOLS) is proposed in this thesis. The CBOLS schedule considers hourly market prices, occupants' comfort level, and microgrid operation constraints. The CBOLS' objective in residential and commercial microgrids is the constrained minimization of the total cost of supplying the aggregator load, defined as the microgrid load minus the microgrid generation. This problem is represented by a large-scale mixed-integer optimization for supplying single-unit and communal loads. The Lagrangian relaxation methodology is used to relax the linking communal load constraint and decompose the independent single-unit functions into subproblems which can be solved in parallel. The optimal solution is acceptable if the aggregator load limit and the duality gap are within the bounds. If any of the proposed criteria is not satisfied, the Lagrangian multiplier will be updated and a new optimal load schedule will be regenerated until both constraints are satisfied. The proposed method is applied to several case studies and the results are presented for the Galvin Center load on the 16th floor of the IIT Tower in Chicago.

  14. Impaired sleep and allostatic load

    DEFF Research Database (Denmark)

    Clark, Alice Jessie; Dich, Nadya; Lange, Theis

    2014-01-01

    Objective: Understanding the mechanisms linking sleep impairment to morbidity and mortality is important for future prevention, but these mechanisms are far from elucidated. We aimed to determine the relation between impaired sleep, both in terms of duration and disturbed sleep, and allostatic load...... Biobank with comprehensive information on sleep duration, disturbed sleep, objective measures of an extensive range of biological risk markers, and physical conditions. Results: Long sleep (mean difference 0.23; 95% confidence interval, 0.13, 0.32) and disturbed sleep (0.14; 0.06, 0.22) were associated...... with higher AL as well as with high-risk levels of risk markers from the anthropometric, metabolic, and immune system. Sub-analyses suggested that the association between disturbed sleep and AL might be explained by underlying disorders. Whereas there was no association between short sleep and AL...

  15. Linking Aβ and Tau in Late-Onset Alzheimer’s Disease: A Dual Pathway Hypothesis

    Science.gov (United States)

    Small, Scott A.; Duff, Karen

    2009-01-01

    Alzheimer’s disease is characterized by abnormal elevation of Aβ peptide and abnormal hyperphosphorylation of the tau protein. The “amyloid hypothesis,” which is based on molecular defects observed in autosomal-dominant early-onset Alzheimer’s disease (EOAD), suggests a serial model of causality, whereby elevation of Aβ drives other disease features including tau hyperphosphorylation. Here, we review recent evidence from drug trials, genetic studies, and experimental work in animal models that suggests that an alternative model might exist in late-onset AD (LOAD), the complex and more common form of the disease. Specifically, we hypothesize a “dual pathway” model of causality, whereby Aβ and tau can be linked by separate mechanisms driven by a common upstream driver. This model may account for the results of recent drug trials and, if confirmed, may guide future drug development. PMID:19038212

  16. Genetics Home Reference: tuberous sclerosis complex

    Science.gov (United States)

    ... sclerosis, type 2 Genetics Education Materials for School Success (GEMSS) Massachusetts General Hospital Merck Manual Consumer Version ... for Links Data Files & API Site Map Subscribe Customer Support USA.gov Copyright Privacy Accessibility FOIA Viewers & ...

  17. Genetics Home Reference: Ehlers-Danlos syndrome

    Science.gov (United States)

    ... c.31538. Epub 2017 Feb 1. Formal Treatment/Management Guidelines (7 links) Bowen JM, Sobey GJ, Burrows NP, Colombi M, Lavallee ME, Malfait F, Francomano CA. Ehlers-Danlos syndrome, classical type. Am J Med Genet C Semin Med ...

  18. Genetics Home Reference: methylmalonic acidemia with homocystinuria

    Science.gov (United States)

    ... type cblD Screening, Technology, and Research in Genetics (STAR-G) Patient Support and Advocacy Resources (3 links) ... Institutes of Health National Library of Medicine Lister Hill National Center for Biomedical Communications 8600 Rockville Pike, ...

  19. Genetic Testing for Hereditary Cancer Syndromes

    Science.gov (United States)

    ... complaints about false or misleading health claims in advertisements. The American Society of Human Genetics, a membership ... at the National Institutes of Health FOLLOW US Facebook Twitter Instagram YouTube Google+ LinkedIn GovDelivery RSS CONTACT ...

  20. Genetics Home Reference: isolated growth hormone deficiency

    Science.gov (United States)

    ... cells that help protect the body against infection (agammaglobulinemia). Related Information What does it mean if a ... deficiency type 1B Genetic Testing Registry: X-linked agammaglobulinemia with growth hormone deficiency Other Diagnosis and Management ...

  1. Genetics Home Reference: Cornelia de Lange syndrome

    Science.gov (United States)

    ... excessive body hair (hypertrichosis), an unusually small head ( microcephaly ), hearing loss, and problems with the digestive tract. ... Information & Resources MedlinePlus (3 links) Encyclopedia: Autism Encyclopedia: Microcephaly Health Topic: Developmental Disabilities Genetic and Rare Diseases ...

  2. Genetics Home Reference: Meier-Gorlin syndrome

    Science.gov (United States)

    ... small ears, and, often, an abnormally small head ( microcephaly ). Despite a small head size, most people with ... named? Additional Information & Resources MedlinePlus (2 links) Encyclopedia: Microcephaly Health Topic: Dwarfism Genetic and Rare Diseases Information ...

  3. Genetics Home Reference: Holt-Oram syndrome

    Science.gov (United States)

    ... navigation Home Page Search Home Health Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Share: Email ... from the University of Kansas Medical Center: Limb Anomalies GeneReviews (1 link) Holt-Oram Syndrome Scientific Articles ...

  4. Genetics Home Reference: Miller-Dieker syndrome

    Science.gov (United States)

    ... Support and Advocacy Resources (2 links) Brain Foundation (Australia) National Organization for Rare Disorders (NORD): Lissencephaly GeneReviews ( ... Pizzardi G, Del Balzo F, Iannetti P. Neuronal migration disorders: clinical, neuroradiologic and genetics aspects. Acta Paediatr. ...

  5. Genetics Home Reference: nail-patella syndrome

    Science.gov (United States)

    ... people with this condition, the areas at the base of the nails (lunulae) are triangular instead of ... Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic ... Manual Professional Version Orphanet: Nail-patella syndrome Resource list ...

  6. Genetics Home Reference: glutaric acidemia type I

    Science.gov (United States)

    ... Resources (3 links) Children Living with Inherited Metabolic Diseases (CLIMB) National ... JK, Frazier DM, Koeberl DD, Sullivan JA, Muenzer J. Glutaric acidemia type 1 in patients of Lumbee heritage from North Carolina. Mol Genet Metab. 2006 May; ...

  7. Cell Division: NuMA Bears the Load in the Spindle.

    Science.gov (United States)

    Maiato, Helder; Pereira, António J

    2017-08-07

    The mitotic spindle bears the load of chromosomes during mitosis, but how this load is distributed across the spindle is unclear. A new study shows that load distribution in the spindle is confined and requires the microtubule cross-linking protein NuMA. Copyright © 2017 Elsevier Ltd. All rights reserved.

  8. Genetic barcodes

    Science.gov (United States)

    Weier, Heinz -Ulrich G

    2015-08-04

    Herein are described multicolor FISH probe sets termed "genetic barcodes" targeting several cancer or disease-related loci to assess gene rearrangements and copy number changes in tumor cells. Two, three or more different fluorophores are used to detect the genetic barcode sections thus permitting unique labeling and multilocus analysis in individual cell nuclei. Gene specific barcodes can be generated and combined to provide both numerical and structural genetic information for these and other pertinent disease associated genes.

  9. Load flow analysis using decoupled fuzzy load flow under critical ...

    African Journals Online (AJOL)

    user

    The conventional load flow methods like Newton-Raphson load flow (NRLF), Fast Decoupled load flow (FDLF) provide poor performance under critical conditions such as high R/X ratio, heavily loading condition etc. Exploiting the decoupling properties of power system, reliable fuzzy load flow is developed to overcome the ...

  10. Increased Insulin following an Oral Glucose Load, Genetic Variation near the Melatonin Receptor MTNR1B, but No Biochemical Evidence of Endothelial Dysfunction in Young Asian Men and Women.

    Directory of Open Access Journals (Sweden)

    Maria A Matuszek

    Full Text Available To identify biochemical and genetic variation relating to increased risk of developing type 2 diabetes mellitus and cardiovascular disease in young, lean male and female adults of different ethnicities.Fasting blood and urine and non-fasting blood following oral glucose intake were analysed in 90 Caucasians, South Asians and South East/East Asians.There were no differences in age, birthweight, blood pressure, body mass index, percent body fat, total energy, percentage of macronutrient intake, microalbumin, leptin, cortisol, adrenocorticotropic hormone, nitric oxide metabolites, C-reactive protein, homocysteine, tumor necrosis factor-α, interleukin-6, von Willebrand factor, vascular cell adhesion molecule-1, plasminogen activator inhibitor-1, and tissue plasminogen activator. Fasting total cholesterol (P = .000, triglycerides (P = .050, low density lipoprotein (P = .009 and non-fasting blood glucose (15 min (P = .024 were elevated in South Asians compared with Caucasians, but there was no significant difference in glucose area under curve (AUC. Non-fasting insulin in South Asians (15-120 min, in South East/East Asians (60-120 min, and insulin AUC in South Asians and South East/East Asians, were elevated compared with Caucasians (P≤0.006. The molar ratio of C-peptide AUC/Insulin AUC (P = .045 and adiponectin (P = .037 were lower in South Asians compared with Caucasians. A significant difference in allele frequency distributions in Caucasians and South Asians was found for rs2166706 (P = 0.022 and rs10830963 (P = 0.009, which are both near the melatonin receptor MTNR1B.Elevated non-fasting insulin exists in young South Asians of normal fasting glucose and insulin. Hepatic clearance of insulin may be reduced in South Asians. No current biochemical evidence exists of endothelial dysfunction at this stage of development. MTNR1B signalling may be a useful therapeutic target in Asian populations in the prevention of type 2 diabetes mellitus.

  11. Bit Loading Algorithms for Cooperative OFDM Systems

    Directory of Open Access Journals (Sweden)

    Gui Bo

    2008-01-01

    Full Text Available Abstract We investigate the resource allocation problem for an OFDM cooperative network with a single source-destination pair and multiple relays. Assuming knowledge of the instantaneous channel gains for all links in the entire network, we propose several bit and power allocation schemes aiming at minimizing the total transmission power under a target rate constraint. First, an optimal and efficient bit loading algorithm is proposed when the relay node uses the same subchannel to relay the information transmitted by the source node. To further improve the performance gain, subchannel permutation, in which the subchannels are reallocated at relay nodes, is considered. An optimal subchannel permutation algorithm is first proposed and then an efficient suboptimal algorithm is considered to achieve a better complexity-performance tradeoff. A distributed bit loading algorithm is also proposed for ad hoc networks. Simulation results show that significant performance gains can be achieved by the proposed bit loading algorithms, especially when subchannel permutation is employed.

  12. Load Balancing Scientific Applications

    Energy Technology Data Exchange (ETDEWEB)

    Pearce, Olga Tkachyshyn [Texas A & M Univ., College Station, TX (United States)

    2014-12-01

    The largest supercomputers have millions of independent processors, and concurrency levels are rapidly increasing. For ideal efficiency, developers of the simulations that run on these machines must ensure that computational work is evenly balanced among processors. Assigning work evenly is challenging because many large modern parallel codes simulate behavior of physical systems that evolve over time, and their workloads change over time. Furthermore, the cost of imbalanced load increases with scale because most large-scale scientific simulations today use a Single Program Multiple Data (SPMD) parallel programming model, and an increasing number of processors will wait for the slowest one at the synchronization points. To address load imbalance, many large-scale parallel applications use dynamic load balance algorithms to redistribute work evenly. The research objective of this dissertation is to develop methods to decide when and how to load balance the application, and to balance it effectively and affordably. We measure and evaluate the computational load of the application, and develop strategies to decide when and how to correct the imbalance. Depending on the simulation, a fast, local load balance algorithm may be suitable, or a more sophisticated and expensive algorithm may be required. We developed a model for comparison of load balance algorithms for a specific state of the simulation that enables the selection of a balancing algorithm that will minimize overall runtime.

  13. Genetics of human hydrocephalus

    Science.gov (United States)

    Williams, Michael A.; Rigamonti, Daniele

    2006-01-01

    Human hydrocephalus is a common medical condition that is characterized by abnormalities in the flow or resorption of cerebrospinal fluid (CSF), resulting in ventricular dilatation. Human hydrocephalus can be classified into two clinical forms, congenital and acquired. Hydrocephalus is one of the complex and multifactorial neurological disorders. A growing body of evidence indicates that genetic factors play a major role in the pathogenesis of hydrocephalus. An understanding of the genetic components and mechanism of this complex disorder may offer us significant insights into the molecular etiology of impaired brain development and an accumulation of the cerebrospinal fluid in cerebral compartments during the pathogenesis of hydrocephalus. Genetic studies in animal models have started to open the way for understanding the underlying pathology of hydrocephalus. At least 43 mutants/loci linked to hereditary hydrocephalus have been identified in animal models and humans. Up to date, 9 genes associated with hydrocephalus have been identified in animal models. In contrast, only one such gene has been identified in humans. Most of known hydrocephalus gene products are the important cytokines, growth factors or related molecules in the cellular signal pathways during early brain development. The current molecular genetic evidence from animal models indicate that in the early development stage, impaired and abnormal brain development caused by abnormal cellular signaling and functioning, all these cellular and developmental events would eventually lead to the congenital hydrocephalus. Owing to our very primitive knowledge of the genetics and molecular pathogenesis of human hydrocephalus, it is difficult to evaluate whether data gained from animal models can be extrapolated to humans. Initiation of a large population genetics study in humans will certainly provide invaluable information about the molecular and cellular etiology and the developmental mechanisms of human

  14. Good news for conservation: mitochondrial and microsatellite DNA data detect limited genetic signatures of inter-basin fish transfer in Thymallus thymallus (Salmonidae from the Upper Drava River

    Directory of Open Access Journals (Sweden)

    Meraner A.

    2013-06-01

    Full Text Available In the last few decades, numerous populations of European grayling, Thymallus thymallus, have been suffering from stocking-induced genetic admixture of foreign strains into wild populations. Concordantly, genetic introgression was also reportedfor grayling stocks inhabiting the Upper Drava River, but all published genetic data based on specimens caught at least a decade ago, when stocking load was strong. Here, we applied mitochondrial control region sequencing and nuclear microsatellite genotyping to Upper Drava grayling fry collections and reference samples to update patterns and extent of human-mediated introgression. In contrast to previous data, we highlighted an almost genetic integrity of Drava grayling, evidencing limited genetic signatures of trans-basin stocking for grayling of Northern Alpine Danubian origin. Recent hybridisation was detected only twice among sixty-nine samples, while several cases of later-generation hybrids were disclosed by linking mitochondrial sequence to nuclear genetic data. The observed past, but very limited recent genetic introgression in grayling from Upper Drava seems to reflect shifting stocking trends, changing from massive introduction of trans-basin fish to more conservation-oriented strategies during the last 27 years. In a conservation context, we encourage pursuing the use of local wild grayling for supportive- and captive-breeding, but underline the need for genetic approaches in brood-stock selection programs. Finally, our integrated results from sibship reconstruction validate our strictly fry-based sampling scheme, thus offering a reasonable alternative also for other rheophilic fish species with similar life-history characteristics.

  15. Visualisierung von typisierten Links in Linked Data

    Directory of Open Access Journals (Sweden)

    Georg Neubauer

    2017-09-01

    Full Text Available Das Themengebiet der Arbeit behandelt Visualisierungen von typisierten Links in Linked Data. Die wissenschaftlichen Gebiete, die im Allgemeinen den Inhalt des Beitrags abgrenzen, sind das Semantic Web, das Web of Data und Informationsvisualisierung. Das Semantic Web, das von Tim Berners Lee 2001 erfunden wurde, stellt eine Erweiterung zum World Wide Web (Web 2.0 dar. Aktuelle Forschungen beziehen sich auf die Verknüpfbarkeit von Informationen im World Wide Web. Um es zu ermöglichen, solche Verbindungen wahrnehmen und verarbeiten zu können sind Visualisierungen die wichtigsten Anforderungen als Hauptteil der Datenverarbeitung. Im Zusammenhang mit dem Sematic Web werden Repräsentationen von zuhammenhängenden Informationen anhand von Graphen gehandhabt. Der Grund des Entstehens dieser Arbeit ist in erster Linie die Beschreibung der Gestaltung von Linked Data-Visualisierungskonzepten, deren Prinzipien im Rahmen einer theoretischen Annäherung eingeführt werden. Anhand des Kontexts führt eine schrittweise Erweiterung der Informationen mit dem Ziel, praktische Richtlinien anzubieten, zur Vernetzung dieser ausgearbeiteten Gestaltungsrichtlinien. Indem die Entwürfe zweier alternativer Visualisierungen einer standardisierten Webapplikation beschrieben werden, die Linked Data als Netzwerk visualisiert, konnte ein Test durchgeführt werden, der deren Kompatibilität zum Inhalt hatte. Der praktische Teil behandelt daher die Designphase, die Resultate, und zukünftige Anforderungen des Projektes, die durch die Testung ausgearbeitet wurden.

  16. Genetic modification and genetic determinism

    Directory of Open Access Journals (Sweden)

    Vorhaus Daniel B

    2006-06-01

    Full Text Available Abstract In this article we examine four objections to the genetic modification of human beings: the freedom argument, the giftedness argument, the authenticity argument, and the uniqueness argument. We then demonstrate that each of these arguments against genetic modification assumes a strong version of genetic determinism. Since these strong deterministic assumptions are false, the arguments against genetic modification, which assume and depend upon these assumptions, are therefore unsound. Serious discussion of the morality of genetic modification, and the development of sound science policy, should be driven by arguments that address the actual consequences of genetic modification for individuals and society, not by ones propped up by false or misleading biological assumptions.

  17. Linking open vocabularies

    CERN Document Server

    Greifender, Elke; Seadle, Michael

    2013-01-01

    Linked Data (LD), Linked Open Data (LOD) and generating a web of data, present the new knowledge sharing frontier. In a philosophical context, LD is an evolving environment that reflects humankinds' desire to understand the world by drawing on the latest technologies and capabilities of the time. LD, while seemingly a new phenomenon did not emerge overnight; rather it represents the natural progression by which knowledge structures are developed, used, and shared. Linked Open Vocabularies is a significant trajectory of LD. Linked Open Vocabularies targets vocabularies that have traditionally b

  18. GENETIC ASPECTS OF AUTISM

    Directory of Open Access Journals (Sweden)

    Anastas LAKOSKI

    1997-06-01

    Full Text Available In the first paper on the syndrome of autism, Kanner described it as innate and inborn. He drew attention to the abnormalities in infancy without evidence of prior normal development and the intellectual, non emotional qualities shown by many of the parents and grandparents. Subsequently, the supposed lack of parental warmth led many clinicians to abandon the notions of constitutional deficit in the child and instead to postulate a psychogenic origin etiology was likely, genetic factors probably did not play a major role. Attention was draw to the low rate of autism in siblings, the lack of chromosome anomalies, and the similarities with syndromes associated with known brain trauma. Although the rate of autism in siblings was indeed low, it was much higher than in the general population rate providing a strong pointer to the genetic factors. The recognition that this was so, associated with the parallel finding of apparently high familiar loading for language delay, stimulated the first, systematic, twin study of autism, which suggested a strong genetic component. Subsequent research has produced findings in the same direction, although many questions remain unanswered. In this paper the evidence that has accumulated on genetic influences on autism is summarized and the remained dilemmas on this field are discussed.

  19. Genetic Engineering

    Science.gov (United States)

    Phillips, John

    1973-01-01

    Presents a review of genetic engineering, in which the genotypes of plants and animals (including human genotypes) may be manipulated for the benefit of the human species. Discusses associated problems and solutions and provides an extensive bibliography of literature relating to genetic engineering. (JR)

  20. Genetic algorithms

    Energy Technology Data Exchange (ETDEWEB)

    Grefenstette, J.J.

    1994-12-31

    Genetic algorithms solve problems by using principles inspired by natural population genetics: They maintain a population of knowledge structures that represent candidate solutions, and then let that population evolve over time through competition and controlled variation. GAs are being applied to a wide range of optimization and learning problems in many domains.

  1. Genetic Counseling.

    Science.gov (United States)

    Exceptional Parent, 1987

    1987-01-01

    Information is presented on a number of tests used in genetic counseling (e.g., genetic evaluation, chromosome evaluation, consideration of multifactorial conditions, prenatal testing, and chorionic villus sampling) which help parents with one disabled child make family planning decisions. (CB)

  2. Genetic risk

    NARCIS (Netherlands)

    ten Kate, L.P.

    2012-01-01

    In this paper I will review different aspects of genetic risk in the context of preconception care. I restrict myself to the knowledge of risk which is relevant for care and/or enables reproductive choice. The paper deals with chromosomes, genes and the genetic classification of diseases, and it

  3. Load research manual. Volume 3. Load research for advanced technologies

    Energy Technology Data Exchange (ETDEWEB)

    Brandenburg, L.; Clarkson, G.; Grund, Jr., C.; Leo, J.; Asbury, J.; Brandon-Brown, F.; Derderian, H.; Mueller, R.; Swaroop, R.

    1980-11-01

    This three-volume manual presents technical guidelines for electric utility load research. Special attention is given to issues raised by the load data reporting requirements of the Public Utility Regulatory Policies Act of 1978 and to problems faced by smaller utilities that are initiating load research programs. The manual includes guides to load research literature and glossaries of load research and statistical terms. In Volume 3, special load research procedures are presented for solar, wind, and cogeneration technologies.

  4. Static Loads Test Facility

    Data.gov (United States)

    Federal Laboratory Consortium — FUNCTION: Provides the capability to perform large-scale structural loads testing on spacecraft and other structures. Results from these tests can be used to verify...

  5. Influence of wind loading

    OpenAIRE

    MAVLONOV RAVSHANBEK ABDUJABBOROVICH; VAKKASOV KHAYRULLO SAYFULLAHANOVICH

    2015-01-01

    Each wind load is determined by a probabilistic-statistical method based on the concept of “equivalent static wind load”, on the assumption that structural frames and components/cladding behave elastically in strong wind.

  6. Plug Load Data

    Data.gov (United States)

    National Aeronautics and Space Administration — We provide MATLAB binary files (.mat) and comma separated values files of data collected from a pilot study of a plug load management system that allows for the...

  7. Lumbriculus variegatus loading study

    Data.gov (United States)

    U.S. Environmental Protection Agency — Results from sediment bioaccumulation tests with Lumbriculus variegatus with evaluating the effects of organism loading density. This dataset is associated with the...

  8. LOADING SIMULATION PROGRAM C

    Science.gov (United States)

    LSPC is the Loading Simulation Program in C++, a watershed modeling system that includes streamlined Hydrologic Simulation Program Fortran (HSPF) algorithms for simulating hydrology, sediment, and general water quality

  9. Genetic Romanticism

    DEFF Research Database (Denmark)

    Tupasela, Aaro

    2016-01-01

    . This article compares and contrasts the work of two doctors in Finland, Elias Lönnrot and Reijo Norio, working over a century and a half apart, to examine the ways in which they have contributed to the formation of national identity and unity. The notion of genetic romanticism is introduced as a term...... to complement the notion of national romanticism that has been used to describe the ways in which nineteenth-century scholars sought to create and deploy common traditions for national-romantic purposes. Unlike national romanticism, however, strategies of genetic romanticism rely on the study of genetic...... inheritance as a way to unify populations within politically and geographically bounded areas. Thus, new genetics have contributed to the development of genetic romanticisms, whereby populations (human, plant, and animal) can be delineated and mobilized through scientific and medical practices to represent...

  10. Genetic testing for inheritable cardiac channelopathies.

    Science.gov (United States)

    Szepesváry, Eszter; Kaski, Juan Pablo

    2016-05-01

    Cardiac channelopathies are linked to an increased risk of ventricular arrhythmia and sudden death. This article reviews the clinical characteristics and genetic basis of common cardiac ion-channel diseases, highlights some genotype-phenotype correlations, and summarizes genetic testing for inheritable cardiac channelopathies.

  11. Social and cultural issues in genetic counselling

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Biosciences; Volume 40; Issue 2. Social and cultural issues in genetic counselling. Meenakshi Bhat. Perspectives Volume 40 Issue 2 June 2015 pp 217-220. Fulltext. Click here to view fulltext PDF. Permanent link: http://www.ias.ac.in/article/fulltext/jbsc/040/02/0217-0220. Keywords. Genetic ...

  12. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    Assessment of genetic diversity in Indian rice germplasm (Oryza sativa L.): use of random versus trait-linked microsatellite markers · Sheel Yadav Ashutosh Singh M. R. Singh Nitika Goel K. K. Vinod T. Mohapatra A. K. Singh · More Details Abstract Fulltext PDF. Assessment of genetic diversity in a crop germplasm is a vital ...

  13. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics; Volume 96; Issue 5. Haldane and modern evolutionary genetics. BRIAN CHARLESWORTH. HALDANE AT 125 Volume 96 Issue 5 November 2017 pp 773-782. Fulltext. Click here to view fulltext PDF. Permanent link: https://www.ias.ac.in/article/fulltext/jgen/096/05/0773-0782. Keywords.

  14. Social and cultural issues in genetic counselling

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Biosciences; Volume 40; Issue 2. Social and cultural issues in genetic counselling. Meenakshi Bhat. Perspectives Volume 40 Issue 2 June 2015 pp 217-220. Fulltext. Click here to view fulltext PDF. Permanent link: https://www.ias.ac.in/article/fulltext/jbsc/040/02/0217-0220. Keywords. Genetic ...

  15. Simulating natural selection in landscape genetics

    Science.gov (United States)

    E. L. Landguth; S. A. Cushman; N. Johnson

    2012-01-01

    Linking landscape effects to key evolutionary processes through individual organism movement and natural selection is essential to provide a foundation for evolutionary landscape genetics. Of particular importance is determining how spatially- explicit, individual-based models differ from classic population genetics and evolutionary ecology models based on ideal...

  16. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics. RISPER AUMA MAGWA. Articles written in Journal of Genetics. Volume 95 Issue 3 September 2016 pp 639-646 RESEARCH ARTICLE. Genomewide association analysis for awn length linked to the seed shattering gene qSH1 in rice · RISPER AUMA MAGWA HU ZHAO WEN YAO ...

  17. Imaging-Genetics Applications in Child Psychiatry

    Science.gov (United States)

    Pine, Daniel S.; Ernst, Monique; Leibenluft, Ellen

    2010-01-01

    Objective: To place imaging-genetics research in the context of child psychiatry. Method: A conceptual overview is provided, followed by discussion of specific research examples. Results: Imaging-genetics research is described linking brain function to two specific genes, for the serotonin-reuptake-transporter protein and a monoamine oxidase…

  18. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics. ASA EBRAHIMI. Articles written in Journal of Genetics. Volume 97 Issue 1 March 2018 pp 189-203 RESEARCH ARTICLE. Identification of SSR and retrotransposon-based molecular markers linked to morphological characters in oily sunflower ( Helianthus annuus L.) under natural and ...

  19. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics. Deepali Pathak. Articles written in Journal of Genetics. Volume 94 Issue 4 December 2015 pp 677-687 Research Article. Mutational landscape of the human Y chromosome-linked genes and loci in patients with hypogonadism · Deepali Pathak Sandeep Kumar Yadav Leena Rawal Sher ...

  20. Lumbosacral loads in bedmaking.

    Science.gov (United States)

    Milburn, P D; Barrett, R S

    1999-06-01

    The purpose of this study was to determine whether the introduction of larger and heavier beds which were lower to the floor increased the physical stress on employees responsible for room cleaning and bedmaking in the hospitality industry. More specifically, this study assessed the effect of bed size (single, double and king) and bed height (460 and 560 mm) on dynamic and static estimates of L5/S1 compression force and static L5/S1 shear force for six simulated components of the overall bedmaking task. Results confirmed the view that static models severely underestimate the loads on the lumbar spine under inertial lifting conditions, and also indicated that: (i) tasks with the greatest hand loads were not necessarily associated with the greatest spinal loads due to differences in the way each task was performed; (ii) L5/S1 loads produced during bedmaking may exceed recommended safe lifting limits for certain task-size height combinations; and (iii) the use of larger and heavier beds in the hospitality industry imposes increased loads on the lumbar spine. The investigation of alternative work practices designed to minimise loads on the lumbar spine is recommended.

  1. Load power device, system and method of load control and management employing load identification

    Energy Technology Data Exchange (ETDEWEB)

    Yang, Yi; Luebke, Charles John; Schoepf, Thomas J.

    2018-01-09

    A load power device includes a power input, at least one power output for at least one load, a plurality of sensors structured to sense voltage and current at the at least one power output, and a processor. The processor provides: (a) load identification based upon the sensed voltage and current, and (b) load control and management based upon the load identification.

  2. Load rating of complex bridges.

    Science.gov (United States)

    2010-07-01

    The National Bridge Inspection Standards require highway departments to inspect, evaluate, and determine load ratings for : structures defined as bridges located on all public roads. Load rating of bridges is performed to determine the live load that...

  3. Determinación de cargas dinámicas de camiones pesados que transitan en un puente basado en algoritmos genéticos e instrumentación Genetic algorithms and instrumentation determination of dynamic loads of heavy trucks over a bridge

    Directory of Open Access Journals (Sweden)

    Edgar Muñoz

    2011-12-01

    Full Text Available Esta investigación determina las cargas por eje de los camiones que circulan por un puente ubicado en una de las vías principales de Colombia, utilizando la técnica de control BWIM (Bridge Weight in Motion, no empleada antes en el País. Nuestro grupo de investigación implementó la Metodología de los Algoritmos genéticos, instrumentación y monitoreo, para el Puente denominado Boquerón en la vía Bogotá - Villavicencio, Colombia. Para ese fin, se instrumentaron cuatro vigas con un sistema electrónico de medición de tráfico en cada carril, además de un sistema de adquisición de datos y ensayos de laboratorio. Desarrollamos la calibración de su modelo estructural y la generación de funciones matemáticas para hacer converger líneas de influencias de cargas con pruebas experimentales y así determinar las cargas en movimiento de los camiones. En adición, se desarrolló una herramienta computacional, capaz de representar con aceptable precisión las cargas en movimiento.This research determines the axle loads of trucks traveling on a bridge located in one of the most important corridors of Colombia, using the technique of control BWIM (Bridge Weight in Motion, not used before in the country. Our research group developed a Genetic Algorithm based in a trial test, implementation and monitoring to the bridge called Boquerón of Colombian Highways (Bogota - Villavicencio. For such an effort, four girders were monitored by data acquisition electronics joined by an electronic traffic log device by lane accompanied of laboratory testing for materials. Model calibration was performed by mathematical approach of in-situ influence lines compared to those obtained by modeling, giving as outcome loads of moving trucks over the bridge. In addition, we developed a computational tool, able to represent with reasonable accuracy the moving loads.

  4. Thermal links for the implementation of an optical refrigerator

    Energy Technology Data Exchange (ETDEWEB)

    Epsteiin, Richard I [Los Alamos National Laboratory; Greenfield, Scott R [Los Alamos National Laboratory; Parker, John [HARVEY MUDD COLLEGE; Mar, David [HARVEY MUDD GOLLEGE; Von Der Porten, Steven [HARVEY MUDD COLLEGE; Hankinson, John [HARVEY MUDD COLLEGE; Byram, Kevin [HARVEY MUDD COLLEGE; Lee, Chris [HARVEY MUDD COLLEGE; Mayeda, Kai [HARVEY MUDD COLLEGE; Haskell, Richard [HARVEY MUDD COLLEGE; Yang, Qimin [HARVEY MUDD COLLEGE

    2008-01-01

    Optical refrigeration has been demonstrated by several groups of researchers, but the cooling elements have not been thermally linked to realistic heat loads in ways that achieve the desired temperatures. The ideal thermal link will have minimal surface area, provide complete optical isolation for the load, and possess high thermal conductivity. We have designed thermal links that minimize the absorption of fluoresced photons by the heat load using multiple mirrors and geometric shapes including a hemisphere, a kinked waveguide, and a tapered waveguide. While total link performance is dependent on additional factors, we have observed net transmission of photons with the tapered link as low as 0.04%. Our optical tests have been performed with a surrogate source that operates at 625 nm and mimics the angular distribution of light emitted from the cooling element of the Los Alamos solid state optical refrigerator. We have confirmed the optical performance of our various link geometries with computer simulations using CODE V optical modeling software. In addition we have used the thermal modeling tool in COMSOL MULTIPHYSICS to investigate other heating factors that affect the thermal performance of the optical refrigerator. Assuming an ideal cooling element and a nonabsorptive dielectric trapping mirror, the three dominant heating factors are (1) absorption of fluoresced photons transmitted through the thermal link, (2) blackbody radiation from the surrounding environment, and (3) conductive heat transfer through mechanical supports. Modeling results show that a 1 cm{sup 3} load can be chilled to 107 K with a 100 W pump laser. We have used the simulated steady-state cooling temperatures of the heat load to compare link designs and system configurations.

  5. The Emotional Link.

    Science.gov (United States)

    Wallace, Ian

    1989-01-01

    Describes the emotional link to the text that an author and an illustrator must create for the reader. Traces the development of that link while the author illustrated "Very Last First Time," by Jan Andrews, a rite-of-passage tale about a young Inuit girl. (RAE)

  6. Let's "Downscale" Linked Data

    NARCIS (Netherlands)

    Gueret, C.D.M.; de Boer, V.; Schlobach, K.S.

    2014-01-01

    Open data policies and linked data publication are powerful tools for increasing transparency, participatory governance, and accountability. The linked data community proudly emphasizes the economic and societal impact such technology shows. But a closer look proves that the design and deployment of

  7. Refined Hopf Link Revisited

    CERN Document Server

    Iqbal, Amer

    2012-01-01

    We establish a relation between the refined Hopf link invariant and the S-matrix of the refined Chern-Simons theory. We show that the refined open string partition function corresponding to the Hopf link, calculated using the refined topological vertex, when expressed in the basis of Macdonald polynomials gives the S-matrix of the refined Chern-Simons theory.

  8. Weierstrass polynomials for links

    DEFF Research Database (Denmark)

    Hansen, Vagn Lundsgaard

    1997-01-01

    There is a natural way of identifying links in3-space with polynomial covering spaces over thecircle. Thereby any link in 3-space can be definedby a Weierstrass polynomial over the circle. Theequivalence relation for covering spaces over thecircle is, however, completely different from...

  9. Refinement of the localization of the X-linked ocular albinism gene

    NARCIS (Netherlands)

    Bergen, A. A.; Zijp, P.; Schuurman, E. J.; Bleeker-Wagemakers, E. M.; Apkarian, P.; van Ommen, G. J.

    1993-01-01

    Although physical and genetic mapping studies assigned the X-linked ocular albinism gene to Xp22.3, the exact gene order in this region is still unclear. We present additional genetic mapping data concerning X-linked ocular albinism that suggests the consensus order Xpter-STS-DXS237-KAL-(OA1,

  10. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    Mutational landscape of the human Y chromosome-linked genes and loci in patients with hypogonadism · Deepali Pathak .... Development of molecular map and identification of QTLs linked to Fusarium wilt resistance in chickpea · Pavankumar Jingade R. L. .... Journal of Genetics Online Resources · More Details Fulltext ...

  11. Link Detection with Wikipedia

    Science.gov (United States)

    He, Jiyin

    This paper describes our participation in the INEX 2008 Link the Wiki track. We focused on the file-to-file task and submitted three runs, which were designed to compare the impact of different features on link generation. For outgoing links, we introduce the anchor likelihood ratio as an indicator for anchor detection, and explore two types of evidence for target identification, namely, the title field evidence and the topic article content evidence. We find that the anchor likelihood ratio is a useful indicator for anchor detection, and that in addition to the title field evidence, re-ranking with the topic article content evidence is effective for improving target identification. For incoming links, we use exact match and retrieval method with language modeling approach, and find that the exact match approach works best. On top of that, our experiment shows that the semantic relatedness between Wikipedia articles also has certain ability to indicate links.

  12. CRISPR: a Versatile Tool for Both Forward and Reverse Genetics Research

    OpenAIRE

    Gurumurthy, Channabasavaiah B.; Grati, M'hamed; Ohtsuka, Masato; Schilit, Samantha L.P.; Quadros, Rolen M.; Liu, Xue Zhong

    2016-01-01

    Human genetics research employs the two opposing approaches of forward and reverse genetics. While forward genetics identifies and links a mutation to an observed disease etiology, reverse genetics induces mutations in model organisms to study their role in disease. In most cases, causality for mutations identified by forward genetics is confirmed by reverse genetics through the development of genetically engineered animal models and an assessment of whether the model can recapitulate the dis...

  13. Safe genetically engineered plants

    International Nuclear Information System (INIS)

    Rosellini, D; Veronesi, F

    2007-01-01

    The application of genetic engineering to plants has provided genetically modified plants (GMPs, or transgenic plants) that are cultivated worldwide on increasing areas. The most widespread GMPs are herbicide-resistant soybean and canola and insect-resistant corn and cotton. New GMPs that produce vaccines, pharmaceutical or industrial proteins, and fortified food are approaching the market. The techniques employed to introduce foreign genes into plants allow a quite good degree of predictability of the results, and their genome is minimally modified. However, some aspects of GMPs have raised concern: (a) control of the insertion site of the introduced DNA sequences into the plant genome and of its mutagenic effect; (b) presence of selectable marker genes conferring resistance to an antibiotic or an herbicide, linked to the useful gene; (c) insertion of undesired bacterial plasmid sequences; and (d) gene flow from transgenic plants to non-transgenic crops or wild plants. In response to public concerns, genetic engineering techniques are continuously being improved. Techniques to direct foreign gene integration into chosen genomic sites, to avoid the use of selectable genes or to remove them from the cultivated plants, to reduce the transfer of undesired bacterial sequences, and make use of alternative, safer selectable genes, are all fields of active research. In our laboratory, some of these new techniques are applied to alfalfa, an important forage plant. These emerging methods for plant genetic engineering are briefly reviewed in this work

  14. gap: Genetic Analysis Package

    Directory of Open Access Journals (Sweden)

    Jing Hua Zhao

    2007-06-01

    Full Text Available A preliminary attempt at collecting tools and utilities for genetic data as an R package called gap is described. Genomewide association is then described as a specific example, linking the work of Risch and Merikangas (1996, Long and Langley (1997 for family-based and population-based studies, and the counterpart for case-cohort design established by Cai and Zeng (2004. Analysis of staged design as outlined by Skol et al. (2006 and associate methods are discussed. The package is flexible, customizable, and should prove useful to researchers especially in its application to genomewide association studies.

  15. Genetic Discrimination

    Science.gov (United States)

    Skip to main content Genetic Discrimination Enter Search Term(s): Español Research Funding An Overview Bioinformatics Current Grants Education and Training Funding Extramural Research News Features Funding Divisions ...

  16. Genetic Testing

    Science.gov (United States)

    ... on to their children Screening embryos for disease Testing for genetic diseases in adults before they cause ... provide information about the pros and cons of testing. NIH: National Human Genome Research Institute

  17. Genetic GIScience

    DEFF Research Database (Denmark)

    Jacquez, Geoffrey; Sabel, Clive E; Shi, Chen

    2015-01-01

    The exposome, defined as the totality of an individual's exposures over the life course, is a seminal concept in the environmental health sciences. Although inherently geographic, the exposome as yet is unfamiliar to many geographers. This article proposes a place-based synthesis, genetic geograp....... These methodological developments and exemplar provide the basis for a new synthesis in health geography: genetic GIScience.......The exposome, defined as the totality of an individual's exposures over the life course, is a seminal concept in the environmental health sciences. Although inherently geographic, the exposome as yet is unfamiliar to many geographers. This article proposes a place-based synthesis, genetic...... geographic information science (genetic GIScience), that is founded on the exposome, genome+, and behavome. It provides an improved understanding of human health in relation to biology (the genome+), environmental exposures (the exposome), and their social, societal, and behavioral determinants (the behavome...

  18. Arthropod Genetics.

    Science.gov (United States)

    Zumwalde, Sharon

    2000-01-01

    Introduces an activity on arthropod genetics that involves phenotype and genotype identification of the creature and the construction process. Includes a list of required materials and directions to build a model arthropod. (YDS)

  19. Development of an integrated genome informatics, data management and workflow infrastructure: A toolbox for the study of complex disease genetics

    Directory of Open Access Journals (Sweden)

    Burren Oliver S

    2004-01-01

    Full Text Available Abstract The genetic dissection of complex disease remains a significant challenge. Sample-tracking and the recording, processing and storage of high-throughput laboratory data with public domain data, require integration of databases, genome informatics and genetic analyses in an easily updated and scaleable format. To find genes involved in multifactorial diseases such as type 1 diabetes (T1D, chromosome regions are defined based on functional candidate gene content, linkage information from humans and animal model mapping information. For each region, genomic information is extracted from Ensembl, converted and loaded into ACeDB for manual gene annotation. Homology information is examined using ACeDB tools and the gene structure verified. Manually curated genes are extracted from ACeDB and read into the feature database, which holds relevant local genomic feature data and an audit trail of laboratory investigations. Public domain information, manually curated genes, polymorphisms, primers, linkage and association analyses, with links to our genotyping database, are shown in Gbrowse. This system scales to include genetic, statistical, quality control (QC and biological data such as expression analyses of RNA or protein, all linked from a genomics integrative display. Our system is applicable to any genetic study of complex disease, of either large or small scale.

  20. Ancient urbanization predicts genetic resistance to tuberculosis.

    Science.gov (United States)

    Barnes, Ian; Duda, Anna; Pybus, Oliver G; Thomas, Mark G

    2011-03-01

    A link between urban living and disease is seen in recent and historical records, but the presence of this association in prehistory has been difficult to assess. If the transition to urban living does result in an increase in disease-based mortality, we might expect to see evidence of increased disease resistance in longer-term urbanized populations, as the result of natural selection. To test this, we determined the frequency of an allele (SLC11A1 1729 + 55del4) associated with natural resistance to intracellular pathogens such as tuberculosis and leprosy. We found a highly significantly correlation with duration of urban settlement-populations with a long history of living in towns are better adapted to resisting these infections. This correlation remains strong when we correct for autocorrelation in allele frequencies due to shared population history. Our results therefore support the interpretation that infectious disease loads became an increasingly important cause of human mortality after the advent of urbanization, highlighting the importance of population density in determining human health and the genetic structure of human populations. © 2010 The Author(s). Evolution© 2010 The Society for the Study of Evolution.

  1. Wave Loads on Cylinders

    DEFF Research Database (Denmark)

    Burcharth, H. F.; Frigaard, Peter

    1989-01-01

    Wave loads may be defined as time varying forces on a body resulting from the wave induced flow fields which surrounds the body in whole or in part. Such unsteady fluid forces are the net result of pressure and shear forces integrated over the instantaneous wetted area.......Wave loads may be defined as time varying forces on a body resulting from the wave induced flow fields which surrounds the body in whole or in part. Such unsteady fluid forces are the net result of pressure and shear forces integrated over the instantaneous wetted area....

  2. Link to paper

    Data.gov (United States)

    U.S. Environmental Protection Agency — Link to the paper. This dataset is associated with the following publication: Naile, J., A.W. Garrison, J. Avants, and J. Washington. Isomers/enantiomers of...

  3. GENETIC ASPECTS OF SPORTS PERFORMANCE

    Directory of Open Access Journals (Sweden)

    Fatma Ebru KOKU

    2015-03-01

    Full Text Available As participation in both amateur and professional sports increases, so does the importance of sports performance and the factors influencing it. Determinants of success in sports can be classified as training, genetic, epigenetic, dietary, motivational, equipment and other environmental factors. The effect of genetics on sports performance and skill has been examined for many years. Autosomal genes, mitochondrial DNA and various genes located in the Y chromosome have all been associated with sports performance. It is not possible to link physical performance to a single genetic polymorphism. Genes that have been most extensively studied in their relation to performance include ACE, ACTN3, ADRA2A, ADRB2, PPARA, PPARGC1A, AMPD1, HIF1A, NOS3, BDKRB2, VEGFR2 and VEGFA. For the time being, genetic screening tests may be useful in determining the weaknesses and strengths of a sportsperson, but not in predicting athletic success.

  4. J. Genet. classic 101

    Indian Academy of Sciences (India)

    Journal of Genetics, Vol. 85, No. 2, August 2006. 101. Page 2. J. Genet. classic. 102. Journal of Genetics, Vol. 85, No. 2, August 2006. Page 3. J. Genet. classic. Journal of Genetics, Vol. 85, No. 2, August 2006. 103. Page 4. J. Genet. classic. 104. Journal of Genetics, Vol. 85, No. 2, August 2006. Page 5. J. Genet. classic.

  5. J. Genet. classic 37

    Indian Academy of Sciences (India)

    Unknown

    Journal of Genetics, Vol. 84, No. 1, April 2005. 37. Page 2. J. Genet. classic. Journal of Genetics, Vol. 84, No. 1, April 2005. 38. Page 3. J. Genet. classic. Journal of Genetics, Vol. 84, No. 1, April 2005. 39. Page 4. J. Genet. classic. Journal of Genetics, Vol. 84, No. 1, April 2005. 40. Page 5. J. Genet. classic. Journal of ...

  6. J. Genet. classic 125

    Indian Academy of Sciences (India)

    Unknown

    Journal of Genetics, Vol. 83, No. 2, August 2004. 125. Page 2. J. Genet. classic. Journal of Genetics, Vol. 83, No. 2, August 2004. 126. Page 3. J. Genet. classic. Journal of Genetics, Vol. 83, No. 2, August 2004. 127. Page 4. J. Genet. classic. Journal of Genetics, Vol. 83, No. 2, August 2004. 128. Page 5. J. Genet. classic.

  7. Lateral loadings on snubber assemblies

    International Nuclear Information System (INIS)

    Raphael, L.S.

    1981-01-01

    This paper examines the installation of snubber assemblies in power plants with respect to transverse or lateral loads as well as axial loads. Evaluation of the effects of low level, lateral loads was performed by analytical means. At higher loadings, the snubber assembly could no longer be treated as a column; therefore, the effects of lateral loadings was determined by test. The test consisted of applying both lateral and axial loads simultaneously. Results of both the analysis and the test showed that the application of lateral loads had a considerable effect on the snubber assemblies

  8. Load research and load estimation in electricity distribution

    Energy Technology Data Exchange (ETDEWEB)

    Seppaelae, A. [VTT Energy, Espoo (Finland). Energy Systems

    1996-12-31

    The topics introduced in this thesis are: the Finnish load research project, a simple form customer class load model, analysis of the origins of customers load distribution, a method for the estimation of the confidence interval of customer loads and Distribution Load Estimation (DLE) which utilises both the load models and measurements from distribution networks. The Finnish load research project started in 1983. The project was initially coordinated by the Association of Finnish Electric Utilities and 40 utilities joined the project. Now there are over 1000 customer hourly load recordings in a database. A simple form customer class load model is introduced. The model is designed to be practical for most utility applications and has been used by the Finnish utilities for several years. The only variable of the model is the customers annual energy consumption. The model gives the customers average hourly load and standard deviation for a selected month, day and hour. The statistical distribution of customer loads is studied and a model for customer electric load variation is developed. The model results in a lognormal distribution as an extreme case. Using the `simple form load model`, a method for estimating confidence intervals (confidence limits) of customer hourly load is developed. The two methods selected for final analysis are based on normal and lognormal distribution estimated in a simplified manner. The estimation of several cumulated customer class loads is also analysed. Customer class load estimation which combines the information from load models and distribution network load measurements is developed. This method, called Distribution Load Estimation (DLE), utilises information already available in the utilities databases and is thus easy to apply

  9. Robust surgery loading

    NARCIS (Netherlands)

    Hans, Elias W.; Wullink, Gerhard; van Houdenhoven, Mark; Kazemier, Geert

    2008-01-01

    We consider the robust surgery loading problem for a hospital’s operating theatre department, which concerns assigning surgeries and sufficient planned slack to operating room days. The objective is to maximize capacity utilization and minimize the risk of overtime, and thus cancelled patients. This

  10. Probabilistic Load Flow

    DEFF Research Database (Denmark)

    Chen, Peiyuan; Chen, Zhe; Bak-Jensen, Birgitte

    2008-01-01

    This paper reviews the development of the probabilistic load flow (PLF) techniques. Applications of the PLF techniques in different areas of power system steady-state analysis are also discussed. The purpose of the review is to identify different available PLF techniques and their corresponding...

  11. Dynamic power load simulator

    Science.gov (United States)

    Joncas, K. P.; Birnbach, S.; Lambert, M., III

    1973-01-01

    Two independent models simulate dynamic and steady-state responses of electrical and electronic equipment under power load. One is resistance/capacitance/inductance network, and the other is variable resistance analog device. Resistance, inductance, and/or capacitance are selected by iterative process; time-domain response is compared with that of real equipment to select optimal values.

  12. Load research manual. Volume 1. Load research procedures

    Energy Technology Data Exchange (ETDEWEB)

    Brandenburg, L.; Clarkson, G.; Grund, Jr., C.; Leo, J.; Asbury, J.; Brandon-Brown, F.; Derderian, H.; Mueller, R.; Swaroop, R.

    1980-11-01

    This three-volume manual presents technical guidelines for electric utility load research. Special attention is given to issues raised by the load data reporting requirements of the Public Utility Regulatory Policies Act of 1978 and to problems faced by smaller utilities that are initiating load research programs. In Volumes 1 and 2, procedures are suggested for determining data requirements for load research, establishing the size and customer composition of a load survey sample, selecting and using equipment to record customer electricity usage, processing data tapes from the recording equipment, and analyzing the data. Statistical techniques used in customer sampling are discussed in detail. The costs of load research also are estimated, and ongoing load research programs at three utilities are described. The manual includes guides to load research literature and glossaries of load research and statistical terms.

  13. [Genetic background of osteoporosis].

    Science.gov (United States)

    Takács, István; Lakatos, Péter

    2003-07-27

    Osteoporosis is characterized by a decrease in bone mass as well as a deterioration of the bone architecture resulting in an increased risk of fracture. The disease is multifactorial, and it depends on environmental and genetic factors. Twin studies have shown that genetic factors account for 60-80% of the variance in bone mineral density, the best predictor of the risk of osteoporosis. There are different approaches to identify these genetic factors. Linkage studies in human and experimental animals have defined multiple loci that regulate bone mass but most of the genes responsible for this effect remain to be defined. The 11q12-13 locus was the first that was linked to bone mineral density of the young female and special bone diseases like high bone mass syndrome and osteoporosis-pseudoglioma syndrome. Both diseases appear to be in association with LDL receptor-related protein 5 gene mutation. The effect of LDL receptor-related protein 5 on bone metabolism had not been known only genetic methods suggested it. The effect of LRP5 in osteoporosis pathogenesis requires more investigation. Association and linkage studies have been performed in order to identify candidate genes in the pathogenesis of osteoporosis. Vitamin D receptor gene was the first candidate, however its effect is controversial. Other candidates, such as insulin like growth factor, interleukin-6, estrogen receptor alpha, transforming growth factor beta show no or small effect on bone mineral density or fracture frequency. To date only Sp1 polymorphism of collagen gene seems to have a consistent effect on bone fragility. The improved understanding of osteoporosis genetics should lead to better diagnosis of this disease and new treatment and prevention strategies.

  14. Linked Ocean Data

    Science.gov (United States)

    Leadbetter, Adam; Arko, Robert; Chandler, Cynthia; Shepherd, Adam

    2014-05-01

    "Linked Data" is a term used in Computer Science to encapsulate a methodology for publishing data and metadata in a structured format so that links may be created and exploited between objects. Berners-Lee (2006) outlines the following four design principles of a Linked Data system: Use Uniform Resource Identifiers (URIs) as names for things. Use HyperText Transfer Protocol (HTTP) URIs so that people can look up those names. When someone looks up a URI, provide useful information, using the standards (Resource Description Framework [RDF] and the RDF query language [SPARQL]). Include links to other URIs so that they can discover more things. In 2010, Berners-Lee revisited his original design plan for Linked Data to encourage data owners along a path to "good Linked Data". This revision involved the creation of a five star rating system for Linked Data outlined below. One star: Available on the web (in any format). Two stars: Available as machine-readable structured data (e.g. An Excel spreadsheet instead of an image scan of a table). Three stars: As two stars plus the use of a non-proprietary format (e.g. Comma Separated Values instead of Excel). Four stars: As three stars plus the use of open standards from the World Wide Web Commission (W3C) (i.e. RDF and SPARQL) to identify things, so that people can point to your data and metadata. Five stars: All the above plus link your data to other people's data to provide context Here we present work building on the SeaDataNet common vocabularies served by the NERC Vocabulary Server, connecting projects such as the Rolling Deck to Repository (R2R) and the Biological and Chemical Oceanography Data Management Office (BCO-DMO) and other vocabularies such as the Marine Metadata Interoperability Ontology Register and Repository and the NASA Global Change Master Directory to create a Linked Ocean Data cloud. Publishing the vocabularies and metadata in standard RDF XML and exposing SPARQL endpoints renders them five-star Linked

  15. Genetics Home Reference: 46,XX testicular disorder of sex development

    Science.gov (United States)

    ... area? Other Names for This Condition 46,XX sex reversal XX male syndrome XX sex reversal Related Information How are genetic conditions and genes ... 1 link) PubMed OMIM (1 link) 46,XX SEX REVERSAL 1 MedGen (1 link) 46,XX testicular disorder ...

  16. Refining and defining riverscape genetics: How rivers influence population genetic structure

    Science.gov (United States)

    Chanté D. Davis; Clinton W. Epps; Rebecca L. Flitcroft; Michael A. Banks

    2018-01-01

    Traditional analysis in population genetics evaluates differences among groups of individuals and, in some cases, considers the effects of distance or potential barriers to gene flow. Genetic variation of organisms in complex landscapes, seascapes, or riverine systems, however, may be shaped by many forces. Recent research has linked habitat heterogeneity and landscape...

  17. Optimum design of laminated composite under axial compressive load

    Indian Academy of Sciences (India)

    Paul C 1998 An introduction to genetic algorithms for numerical optimization. Mini-Workshop on Numer- ical Methods in Astrophysics, Oslo. Prabhakara D L, Datta P K 1997 Vibration, buckling and parametric instability of plates with centrally located cutouts subjected to in-plane edge loading (tension and compression).

  18. Contribution of genetics to ecological restoration.

    Science.gov (United States)

    Mijangos, Jose Luis; Pacioni, Carlo; Spencer, Peter B S; Craig, Michael D

    2015-01-01

    Ecological restoration of degraded ecosystems has emerged as a critical tool in the fight to reverse and ameliorate the current loss of biodiversity and ecosystem services. Approaches derived from different genetic disciplines are extending the theoretical and applied frameworks on which ecological restoration is based. We performed a search of scientific articles and identified 160 articles that employed a genetic approach within a restoration context to shed light on the links between genetics and restoration. These articles were then classified on whether they examined association between genetics and fitness or the application of genetics in demographic studies, and on the way the studies informed restoration practice. Although genetic research in restoration is rapidly growing, we found that studies could make better use of the extensive toolbox developed by applied fields in genetics. Overall, 41% of reviewed studies used genetic information to evaluate or monitor restoration, and 59% provided genetic information to guide prerestoration decision-making processes. Reviewed studies suggest that restoration practitioners often overlook the importance of including genetic aspects within their restoration goals. Even though there is a genetic basis influencing the provision of ecosystem services, few studies explored this relationship. We provide a view of research gaps, future directions and challenges in the genetics of restoration. © 2014 John Wiley & Sons Ltd.

  19. Transancestral mapping and genetic load in systemic lupus erythematosus

    NARCIS (Netherlands)

    Langefeld, Carl D.; Ainsworth, Hannah C.; Graham, Deborah S. Cunninghame; Kelly, Jennifer A.; Comeau, Mary E.; Marion, Miranda C.; Howard, Timothy D.; Ramos, Paula S.; Croker, Jennifer A.; Morris, David L.; Sandling, Johanna K.; Almlof, Jonas Carlsson; Acevedo-Vasquez, Eduardo M.; Alarcon, Graciela S.; Babini, Alejandra M.; Baca, Vicente; Bengtsson, Anders A.; Berbotto, Guillermo A.; Bijl, Marc; Brown, Elizabeth E.; Brunner, Hermine I.; Cardiel, Mario H.; Catoggio, Luis; Cervera, Ricard; Cucho-Venegas, Jorge M.; Dahlqvist, Solbritt Rantapaa; D'Alfonso, Sandra; Da Silva, Berta Martins; de la Rua Figueroa, Inigo; Doria, Andrea; Edberg, Jeffrey C.; Endreffy, Emoke; Esquivel-Valerio, Jorge A.; Fortin, Paul R.; Freedman, Barry I.; Frostegard, Johan; Garcia, Mercedes A.; Garcia de la Torre, Ignacio; Gilkeson, Gary S.; Gladman, Dafna D.; Gunnarsson, Iva; Guthridge, Joel M.; Huggins, Jennifer L.; James, Judith A.; Kallenberg, Cees G. M.; Kamen, Diane L.; Karp, David R.; Kaufman, Kenneth M.; Kottyan, Leah C.; Kovacs, Laszlo; Laustrup, Helle; Lauwerys, Bernard R.; Li, Quan-Zhen; Maradiaga-Cecena, Marco A.; Martin, Javier; McCune, Joseph M.; McWilliams, David R.; Merrill, Joan T.; Miranda, Pedro; Moctezuma, Jose F.; Nath, Swapan K.; Niewold, Timothy B.; Orozco, Lorena; Ortego-Centeno, Norberto; Petri, Michelle; Pineau, Christian A.; Pons-Estel, Bernardo A.; Pope, Janet; Raj, Prithvi; Ramsey-Goldman, Rosalind; Reveille, John D.; Russell, Laurie P.; Sabio, Jose M.; Aguilar-Salinas, Carlos A.; Scherbarth, Hugo R.; Scorza, Raffaella; Seldin, Michael F.; Sjowall, Christopher; Svenungsson, Elisabet; Thompson, Susan D.; Toloza, Sergio M. A.; Truedsson, Lennart; Tusie-Luna, Teresa; Vasconcelos, Carlos; Vila, Luis M.; Wallace, Daniel J.; Weisman, Michael H.; Wither, Joan E.; Bhangale, Tushar; Oksenberg, Jorge R.; Rioux, John D.; Gregersen, Peter K.; Syvanen, Ann-Christine; Ronnblom, Lars; Criswell, Lindsey A.; Jacob, Chaim O.; Sivils, Kathy L.; Tsao, Betty P.; Schanberg, Laura E.; Behrens, Timothy W.; Silverman, Earl D.; Alarcon-Riquelme, Marta E.; Kimberly, Robert P.; Harley, John B.; Wakeland, Edward K.; Graham, Robert R.; Gaffney, Patrick M.; Vyse, Timothy J.

    2017-01-01

    Systemic lupus erythematosus (SLE) is an autoimmune disease with marked gender and ethnic disparities. We report a large transancestral association study of SLE using Immunochip genotype data from 27,574 individuals of European (EA), African (AA) and Hispanic Amerindian (HA) ancestry. We identify 58

  20. Transancestral mapping and genetic load in systemic lupus erythematosus

    DEFF Research Database (Denmark)

    Langefeld, Carl D; Ainsworth, Hannah C; Graham, Deborah S Cunninghame

    2017-01-01

    Systemic lupus erythematosus (SLE) is an autoimmune disease with marked gender and ethnic disparities. We report a large transancestral association study of SLE using Immunochip genotype data from 27,574 individuals of European (EA), African (AA) and Hispanic Amerindian (HA) ancestry. We identify...

  1. Desktop Genetics.

    Science.gov (United States)

    Hough, Soren H; Ajetunmobi, Ayokunmi; Brody, Leigh; Humphryes-Kirilov, Neil; Perello, Edward

    2016-11-01

    Desktop Genetics is a bioinformatics company building a gene-editing platform for personalized medicine. The company works with scientists around the world to design and execute state-of-the-art clustered regularly interspaced short palindromic repeats (CRISPR) experiments. Desktop Genetics feeds the lessons learned about experimental intent, single-guide RNA design and data from international genomics projects into a novel CRISPR artificial intelligence system. We believe that machine learning techniques can transform this information into a cognitive therapeutic development tool that will revolutionize medicine.

  2. The Effect of Load Stabilizer Selection on Load Shift Within Unit Loads

    OpenAIRE

    Bisha, James Victor

    2008-01-01

    Research on unit load stability aids manufacturing facilities in selecting the most efficient load stabilizer when shipping their products to market. This studyâ s objective was to compare the performance a variety of different commonly used load stabilizers to stretch hooding. Stretch hooding is a method of load stabilization in which a tubular film is heat sealed at the top, stretched by four mechanical arms to a desired width, pulled down over the unit load. The film is slowly released...

  3. A possible genetic link between MTHFR genotype and smoking behavior.

    Directory of Open Access Journals (Sweden)

    Michael Linnebank

    Full Text Available BACKGROUND: Hyperhomocysteinemia is an independent risk factor for stroke and other vascular events. The variant methylenetetrahydrofolate reductase (MTHFR C677T is associated with elevated homocysteine levels, cardiovascular disease and stroke, which supports a causal relationship between hyperhomocysteinemia and vascular disease. However, MTHFR variants have also been reported to be associated with smoking behavior, which could be an important confounder. METHODOLOGY/PRINCIPAL FINDINGS: We analyzed the MTHFR variants C677T and A1298C in two independent samples of 525 and 535 individuals, respectively. 21% of the non-smokers, but only 12% of the smokers were homozygous carriers of both MTHFR wildtype alleles, i.e. 677CC and 1298AA (Chi² = 15.8; p<0.001; binary regression. Plasma homocysteine levels were higher in smokers (13.9±4.1 µmol/L than in non-smokers (12.6±4.0 µmol/L; F = 11.4; p = 0.001; ANOVA. Smoking MTHFR 677TT individuals had the highest plasma homocysteine levels (16.2±5.2 µmol/L, non-smoking 677CC individuals had the lowest (12.2±13.6 µmol/L. CONCLUSIONS/SIGNIFICANCE: In our study samples, MTHFR variants and smoking behaviour were associated with homocysteine plasma levels. In addition, the MTHFR variants were associated with smoking behaviour. Such an association may be a relevant confounder between MTHFR variants, homocysteine plasma levels and vascular diseases.

  4. Genetics Home Reference: X-linked chondrodysplasia punctata 2

    Science.gov (United States)

    ... chondrodysplasia punctata 2 is typically associated with normal intelligence and a normal lifespan. However, a much more ... fat-like substance that is produced in the body and obtained from foods that come from animals ( ...

  5. Genetics Home Reference: X-linked dilated cardiomyopathy

    Science.gov (United States)

    ... of this condition can include an irregular heartbeat (arrhythmia), shortness of breath, extreme tiredness (fatigue), and swelling ... Celebrates Its 15th Anniversary National DNA Day 2018 Newborn Screening Saves Lives Act Turns 10 All Bulletins ...

  6. Genetics Home Reference: X-linked lymphoproliferative disease

    Science.gov (United States)

    ... PubMed Central Woon ST, Ameratunga R, Croxson M, Taylor G, Neas K, Edkins E, Browett P, Gane ... RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from http:// ...

  7. Genetics Home Reference: X-linked lissencephaly with abnormal genitalia

    Science.gov (United States)

    ... agenesis) of the tissue connecting the left and right halves of the brain ( corpus callosum ). The brain abnormalities can cause severe intellectual disability and developmental delay, abnormal muscle stiffness (spasticity), weak ...

  8. Genetics Home Reference: X-linked adrenal hypoplasia congenita

    Science.gov (United States)

    ... infertility). Together, these characteristics are known as hypogonadotropic hypogonadism. The onset and severity of these signs and ... signs and symptoms of adrenal insufficiency and hypogonadotropic hypogonadism occur when endocrine glands do not produce the ...

  9. Genetics Home Reference: X-linked cardiac valvular dysplasia

    Science.gov (United States)

    ... protein filamin A, which helps build cells' extensive internal network of protein filaments called the cytoskeleton . The ... of Medicine Lister Hill National Center for Biomedical Communications 8600 Rockville Pike, Bethesda, MD 20894, USA HONCode ...

  10. Genetics of HDL-C: a causal link to atherosclerosis?

    NARCIS (Netherlands)

    van Capelleveen, Julian C.; Bochem, Andrea E.; Motazacker, M. Mahdi; Hovingh, G. Kees; Kastelein, John J. P.

    2013-01-01

    Prospective epidemiological studies have consistently reported an inverse association between HDL cholesterol (HDL-C) levels and the risk of cardiovascular disease (CVD). However, large intervention trials on HDL-C-increasing drugs and recent Mendelian randomization studies have questioned a causal

  11. Genetics Home Reference: X-linked congenital stationary night blindness

    Science.gov (United States)

    ... Koop B, Fishman GA, Mets M, Musarella MA, Boycott KM. Loss-of-function mutations in a calcium- ... Nov;26(3):319-23. Citation on PubMed Boycott KM, Pearce WG, Bech-Hansen NT. Clinical variability ...

  12. X-linked Agammaglobulinemia.

    Science.gov (United States)

    Suri, Deepti; Rawat, Amit; Singh, Surjit

    2016-04-01

    X-linked agammaglobulinemia (XLA) is one of the commonest primary immune deficiencies encountered in pediatric clinical practice. In adults, common variable immunodeficiency (CVID) is the most common primary immunodeficiency disease (PID). It is an X-linked disorder characterized by increased susceptibility to encapsulated bacteria, severe hypergammaglobulinemia and absent circulating B cells in the peripheral blood. Replacement immunoglobulin therapy is the main cornerstone of treatment. Aggressive management of intercurrent infections and prophylactic antimicrobials are needed. This review attempts to highlight varied clinical manifestations and management of XLA, especially in the context of developing country.

  13. Drugs + HIV, Learn the Link

    Medline Plus

    Full Text Available ... Education Projects » Learn the Link - Drugs and HIV Learn the Link - Drugs and HIV Email Facebook Twitter ... research findings and news updates. Read on to Learn the Link between drug use and HIV and ...

  14. Duration of load revisited

    DEFF Research Database (Denmark)

    Hoffmeyer, Preben; Sørensen, John Dalsgaard

    2007-01-01

    to bending under constant load condi-tions. Two constant moisture conditions (MC = 11 % and 20 %) and one condition of varying moisture (MC between 11 % and 20 %) were applied. A total of 816 Norway spruce boards of dimensions 44 x 95 x 1800 mm were included. Eight groups of non-destructively matched samples......A duration of load study representing 13 years of testing was recently terminated. Preliminary results have been published over the years. This paper represents the final account of the study, which was focused on the influ-ence of moisture content on time to failure for structural timber subjected...... were formed. Four groups were subjected to short-term strength tests, and four groups were subjected to long-term tests. Creep and time to failure were moni-tored. Time to failure as a function of stress level was established and the reliability of stress level assessment was discussed. A significant...

  15. Heavy-Load Lifting

    DEFF Research Database (Denmark)

    Bloomquist, Kira; Oturai, Peter; Steele, Megan L

    2018-01-01

    PURPOSE: Despite a paucity of evidence, prevention guidelines typically advise avoidance of heavy lifting in an effort to protect against breast cancer-related lymphedema. This study compared acute responses in arm swelling and related symptoms after low- and heavy-load resistance exercise among...... women at risk of lymphedema while receiving adjuvant taxane-based chemotherapy. METHODS: This is a randomized, cross-over equivalence trial. Women receiving adjuvant taxane-based chemotherapy for breast cancer who had undergone axillary lymph node dissection (n=21) participated in low- (60-65% 1...... repetition maximum (RM), two sets of 15-20 repetitions) and heavy-load (85-90% 1RM, three sets of 5-8 repetition) upper-extremity resistance exercise separated by a one-week wash-out period. Swelling was determined by bioimpedance spectroscopy and dual energy x-ray absorptiometry, with breast cancer...

  16. Fuel element loading system

    International Nuclear Information System (INIS)

    Arya, S.P; s.

    1978-01-01

    A nuclear fuel element loading system is described which conveys a plurality of fuel rods to longitudinal passages in fuel elements. Conveyor means successively position the fuel rods above the longitudinal passages in axial alignment therewith and adapter means guide the fuel rods from the conveyor means into the longitudinal passages. The fuel elements are vibrated to cause the fuel rods to fall into the longitudinal passages through the adapter means

  17. Genetic Recombination

    Science.gov (United States)

    Whitehouse, H. L. K.

    1973-01-01

    Discusses the mechanisms of genetic recombination with particular emphasis on the study of the fungus Sordaria brevicollis. The study of recombination is facilitated by the use of mutants of this fungus in which the color of the ascospores is affected. (JR)

  18. Load responsive hydrodynamic bearing

    Science.gov (United States)

    Kalsi, Manmohan S.; Somogyi, Dezso; Dietle, Lannie L.

    2002-01-01

    A load responsive hydrodynamic bearing is provided in the form of a thrust bearing or journal bearing for supporting, guiding and lubricating a relatively rotatable member to minimize wear thereof responsive to relative rotation under severe load. In the space between spaced relatively rotatable members and in the presence of a liquid or grease lubricant, one or more continuous ring shaped integral generally circular bearing bodies each define at least one dynamic surface and a plurality of support regions. Each of the support regions defines a static surface which is oriented in generally opposed relation with the dynamic surface for contact with one of the relatively rotatable members. A plurality of flexing regions are defined by the generally circular body of the bearing and are integral with and located between adjacent support regions. Each of the flexing regions has a first beam-like element being connected by an integral flexible hinge with one of the support regions and a second beam-like element having an integral flexible hinge connection with an adjacent support region. A least one local weakening geometry of the flexing region is located intermediate the first and second beam-like elements. In response to application of load from one of the relatively rotatable elements to the bearing, the beam-like elements and the local weakening geometry become flexed, causing the dynamic surface to deform and establish a hydrodynamic geometry for wedging lubricant into the dynamic interface.

  19. Genetics of Hearing and Deafness

    Science.gov (United States)

    ANGELI, SIMON; LIN, XI; LIU, XUE ZHONG

    2015-01-01

    This article is a review of the genes and genetic disorders that affect hearing in humans and a few selected mouse models of deafness. Genetics is playing an increasingly critical role in the practice of medicine. This is not only in part to the importance that genetic knowledge has on traditional genetic diseases but also in part to the fact that genetic knowledge provides an understanding of the fundamental biological process of most diseases. The proteins coded by the genes related to hearing loss (HL) are involved in many functions in the ear, such as cochlear fluid homeostasis, ionic channels, stereocilia morphology and function, synaptic transmission, gene regulation, and others. Mouse models play a crucial role in understanding of the pathogenesis associated with these genes. Different types of familial HL have been recognized for years; however, in the last two decades, there has been tremendous progress in the discovery of gene mutations that cause deafness. Most of the cases of genetic deafness recognized today are monogenic disorders that can be broadly classified by the mode of inheritance (i.e., autosomal dominant, autosomal recessive, X-linked, and mitochondrial inheritance) and by the presence of associated phenotypic features (i.e., syndromic; and nonsyndromic). In terms of nonsyndromic HL, the chromosomal locations are currently known for ~ 125 loci (54 for dominant and 71 for recessive deafness), 64 genes have been identified (24 for dominant and 40 for recessive deafness), and there are many more loci for syndromic deafness and X-linked and mitochondrial DNA disorders (http://hereditaryhearingloss.org). Thus, today’s clinician must understand the science of medical genetics as this knowledge can lead to more effective disease diagnosis, counseling, treatment, and prevention. PMID:23044516

  20. J. Genet. classic 235

    Indian Academy of Sciences (India)

    Unknown

    Journal of Genetics, Vol. 83, No. 3, December 2004. 235. Page 2. J. Genet. classic. Journal of Genetics, Vol. 83, No. 3, December 2004. 236. Page 3. J. Genet. classic. Journal of Genetics, Vol. 83, No. 3, December 2004. 237. Page 4. J. Genet. classic. Journal of Genetics, Vol. 83, No. 3, December 2004. 238. Page 5 ...