p102l inherited prion: Topics by WorldWideScience.org

Chronic Wasting Disease Prions in Elk Antler Velvet

BackgroundVariant Creutzfeldt–Jakob disease (vCJD) is a prion disease thought to be acquired by the consumption of prion-contaminated beef products. To date, over 200 cases...Full Text Available

Ovine reference materials and assays for prion genetic testing

Chronic wasting disease (CWD) is a contagious, fatal prion disease of deer and elk that continues to emerge in new locations. To explore the means by which prions are transmitted with high efficiency...Full Text Available

2009-05-01

Protein S inherited qualitative deficiency: novel mutations and phenotypic influence.

BackgroundGenetic predisposition to scrapie in sheep is associated with several variations in the peptide sequence of the prion protein gene (PRNP). DNA-based tests...Full Text Available

The retinoic acid receptor beta (Rarb) region of Mmu14 is associated with prion disease incubation time in mouse.

PMID:20880255

2010-12-01

Two amyloid states of the prion protein display significantly different folding patterns

In neurodegenerative conditions such as Alzheimer's and prion disease it has been shown that host genetic background can have a significant effect on susceptibility. Indeed, human genome-wide association studies (GWAS) have implicated several candidate genes. Understanding such genetic susceptibility is relevant to risks of developing variant CJD (vCJD) in populations exposed to bovine spongiform encephalopathy (BSE) and understanding mechanisms of neurodegeneration. In mice, aspects of prion disease susceptibility can be modelled by examining the incubation period following experimental inoculation. Quantitative trait linkage studies have already identified multiple candidate genes; however, it is also possible to take an individual candidate gene approach. Rarb and Stmn2 were selected as candidates based on the known association with vCJD. Because of the increasing overlap described between prion and Alzheimer's diseases ...

2010-12-06

Detection of Sub-Clinical CWD Infection in Conventional Test-Negative Deer Long after Oral Exposure to Urine and Feces from CWD+ Deer

SummaryIt has been well established that a single amino acid sequence can give rise to several conformationally distinct amyloid states. The extent to which amyloid structures...Full Text Available

2010-07-23

Decreased CSF Transferrin in sCJD: A Potential Pre-Mortem Diagnostic Test for Prion Disorders

BackgroundChronic wasting disease (CWD) of cervids is a prion disease distinguished by high levels of transmissibility, wherein bodily fluids and excretions are thought to play an...Full Text Available

Common Familial Colorectal Cancer Linked to Chromosome 7q31: a genome-wide analysis

Sporadic Creutzfeldt-Jakob-disease (sCJD) is a fatal neurodegenerative condition that escapes detection until autopsy. Recently, brain iron dyshomeostasis accompanied by increased transferrin (Tf) was...Full Text Available

Tau inhibits tubulin oligomerization induced by prion protein

Present investigations suggest that approximately 30% of colorectal cancer (CRC) cases arise on the basis of inherited factors. We hypothesize that the majority of inherited factors are moderately...Full Text Available

2008-11-01

British Library Electronic Table of Contents (United Kingdom)

In previous studies we have demonstrated that prion protein (PrP) interacts with tubulin and disrupts microtubular cytoskeleton by inducing tubulin oligomerization. These observations may explain the molecular mechanism of toxicity of cytoplasmic PrP in transmissible spongiform encephalopathies (TSEs). Here, we check whether microtubule associated proteins (MAPs) that regulate microtubule stability, influence the PrP-induced oligomerization of tubulin. We show that tubulin preparations depleted of MAPs are more prone to oligomerization by PrP than those containing traces of MAPs. Tau protein, a major neuronal member of the MAPs family, reduces the effect of PrP. Importantly, phosphorylation of Tau abolishes its ability to affect the PrP-induced oligomerization of tubulin. We propose that t...

2011-01-01

Genomic imprinting and the social brain

Bladder outlet obstruction in male cystinuria mice

Genomic imprinting refers to the parent-of-origin-specific epigenetic marking of a number of genes. This epigenetic mark leads to a bias in expression between maternally and paternally inherited imprinted...Full Text Available

2006-12-29

Cultural inheritance and diversification of diet in variable environments

BackgroundCystinuria is the most common inherited cause of urinary tract stones in children. It can lead to obstructive uropathy, which is a major cause of renal...Full Text Available

2010-03-01

British Library Electronic Table of Contents (United Kingdom)

Both cultural inheritance and cultural diversification of diets may play an important role in animal evolution. Here we studied how diet innovation and cultural change relate to cultural inheritance in a changing environment. We did this by studying diet cultures in group foragers adapting to environmental change through learning, and the consequences this has for diet differentiation between groups. We used an individual-based model of `monkeys' that learn what to eat in a rich environment, and we changed resource species that are available in the environment. Relative to social influences on learning that arise spontaneously in groups, we found that more direct social learning, in the sense of observing another individual and copying what it eats, helps groups deal with high levels of en...

2009-01-01

Use of Balloon Enteroscopy in Preoperative Diagnosis of Neurofibromatosis-Associated Gastrointestinal Stromal Tumours of the Small Bowel: A Case Report

The role of AMPK in psychosine mediated effects on oligodendrocytes and astrocytes: Implication for Krabbe Disease

Neurofibromatosis type I (NF1) is one of the most common inheritable disorders and is associated with an increased risk of gastrointestinal stromal tumours (GISTs). However, the predominant location...Full Text Available

The L-type calcium channel inhibitor diltiazem prevents cardiomyopathy in a mouse model

Krabbe disease (KD) is an inherited neurological disorder caused by the deficiency of galactocerebrosidase activity resulting in accumulation of psychosine, which leads to energy depletion,...Full Text Available

2008-06-01

Mutation Spectrum of EYS in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa

Dominant mutations in sarcomere protein genes cause hypertrophic cardiomyopathy, an inherited human disorder with increased ventricular wall thickness, myocyte hypertrophy, and disarray. To understand...Full Text Available

2002-04-15

Intragenomic conflict in populations infected by Parthenogenesis Inducing Wolbachia ends with irreversible loss of sexual reproduction

Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal dystrophies characterised ultimately by the loss of photoreceptor cells. We have recently identified a new gene (EYS) encoding...Full Text Available

2010-11-01

Inhibition of the visual cycle by A2E through direct interaction with RPE65 and implications in Stargardt disease

BackgroundThe maternally inherited, bacterial symbiont, parthenogenesis inducing (PI) Wolbachia, causes females in some haplodiploid insects to produce daughters...Full Text Available

Inheritable Effect of Unpredictable Maternal Separation on Behavioral Responses in Mice

Stargardt disease (STGD) is the major form of inherited juvenile macular degeneration. Pyridinium bis-retinoid A2E is a major component of lipofuscin which accumulates in retinal pigment epithelium...Full Text Available

2010-10-12

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Identification of genes and haplotypes that predict rheumatoid arthritis using random forests

The long-term impact of early stress on behavior and emotions is well documented in humans, and can be modeled in experimental animals. In mice, maternal separation during early postnatal development...Full Text Available

Functional interaction between the Werner Syndrome protein and DNA polymerase ?

Random forest (RF) analysis of genetic data does not require specification of the mode of inheritance, and provides measures of variable importance that incorporate interaction effects. In this paper...Full Text Available

Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations

Werner Syndrome (WS) is an inherited disease characterized by premature onset of aging, increased cancer incidence, and genomic instability. The WS gene encodes a 1,432-amino acid polypeptide (WRN)...Full Text Available

2000-04-25

Congenital anal anomalies in two families with the Opitz G syndrome.

Carney-Stratakis syndrome, an inherited condition predisposing affected individuals to gastrointestinal stromal tumor (GIST) and paraganglioma, is caused by germline mutations in succinate dehydrogenase...Full Text Available

2011-01-04

Completely phased genome sequencing through chromosome sorting

Five children from two families presented to a regional neonatal surgical unit between 1959 and 1984 with congenital anal anomalies and other malformations resulting from an autosomal dominant inherited...Full Text Available

1987-11-01

Colonic polyps: inheritance, susceptibility, risk evaluation, and diagnostic management

The two haploid genome sequences that a person inherits from the two parents represent the most fundamentally useful type of genetic information for the study of heritable diseases and the development...Full Text Available

2011-01-04

Asynchronous Cell Cycle and Asymmetric Vacuolar Inheritance in True Hyphae of Candida albicans

Colorectal cancer (CRC) is the third-ranked neoplasm in order of incidence and mortality, worldwide, and the second cause of cancer death in industrialized countries. One of the most important environmental...Full Text Available

Analysis of European mtDNAs for Recombination

Candida albicans forms unconstricted hyphae in serum-containing medium that are divided into discrete compartments. Time-lapse photomicroscopy, flow cytometry, and a novel three-dimensional...Full Text Available

2003-06-01

A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features

The standard paradigm postulates that the human mitochondrial genome (mtDNA) is strictly maternally inherited and that, consequently, mtDNA lineages are clonal. As a result of mtDNA clonality, phylogenetic...Full Text Available

2001-01-01

A haplotype map of the human genome

PurposeTo detail the highly variable ocular phenotypes of a French family affected with an autosomal dominantly inherited vitreoretinopathy and to identify the disease gene.MethodsSixteen...Full Text Available

A faster pedigree-based generalized multifactor dimensionality reduction method for detecting gene-gene interactions

Inherited genetic variation has a critical but as yet largely uncharacterized role in human disease. Here we report a public database of common variation in the human genome: more than one million...Full Text Available

2005-10-27

Intermediate form of osteopetrosis with recessive inheritance

We proposed a faster pedigree-based generalized multifactor dimensionality reduction algorithm, called PedG-MDR II (PII), to detect gene-gene interactions underlying complex traits. Inherited...Full Text Available

2011-01-01

Variational derivation of improved KP-type of equations

The clinical and radiographic features of the intermediate form of osteopetrosis in two sibs are presented in which the disorder appears to have been inherited as a recessive trait. Although this form of osteopetrosis has been poorly delineated, its recognition is practically important in order to give an accurate prognosis. This paper also presents an unusual complication of bilateral avascular necrosis of the femoral head in the younger sib. Radiographic changes of the femoral heads suggest those of Legg-Calve-Perthes disease, though the possibility of avascular necrosis following unrecognized femoral neck fracture is not completely excluded. (orig.).

Amino acid substitutions in inherited albumin variants from Amerindian and Japanese populations

The Kadomtsev-Petviashvili equation describes nonlinear dispersive waves which travel mainly in one direction, generalizing the Korteweg-de Vries equation for purely uni-directional waves. In this Letter we derive an improved KP-equation that has exact dispersion in the main propagation direction and that is accurate in second order of the wave height. Moreover, different from the KP-equation, this new equation is also valid for waves on deep water. These properties are inherited from the AB-equation (E. van Groesen, Andonowati, 2007 ) which is the unidirectional improvement of the KdV equation. The derivation of the equation uses the variational formulation of surface water waves, and inherits the basic Hamiltonian structure.

2010-01-04

British Library Electronic Table of Contents (United Kingdom)

The authors report an effort to determine the basis for the altered migration of seven inherited albumin variants detected by one-dimensional electrophoresis in population surveys involving tribal Amerindians and Japanese children. An amino acid substitution has thus far been determined for four of the variants. The randomness in the albumin polypeptide of these and the other sixteen independently ascertained amino acid substitutions of albumin and proalbumin thus far established was analyzed; the clustering of eight of these at two positions in the six-amino acid propeptide sequence seems noteworthy. By comparison with other proteins studied by electrophoresis, albumin exhibits average variability. It is a paradox that individuals who, for genetic reasons, lack albumin exhibit no obvious ill effects; yet, electrophoretic variants of albumin are no more numerous than are variants of proteins, the absence of which results in severe disease.

What is `that'?

Davidsons paratactic account of indirect speech exploits the fact that `that' can be either a demonstrative pronoun or a subordinating conjunction. Davidson thinks that the fact that it is plausible to think that it inherited the latter function from the former lends support to his account. However, in other languages the two functions are performed by unrelated words, which makes the account impossible to apply to them. I argue that this shows that, rather than revealing the underlying form of indirect reports, the account reflects only a quirk of English.

2011-01-01

Organizational options for a future Romanian electricity market

Linkage analysis in familial Angelman syndrome

All over the world the implementation of energy efficient and clean technologies can be hardly considered without opening the way to competition and the involvement of private investment. If such terms are valid for reach countries there are even more adequate for economies in transition like Romania's, which inherited and obsolete productive equipment, can mobilize insufficient resources for development-modernization and exhibits a quasi-unanimous option of adhering at European Union. (author). 3 tabs., 11 refs.

1996-09-01

Homozygosity Mapping Reveals Null Mutations in FAM161A as a Cause of Autosomal-Recessive Retinitis Pigmentosa

Familial Angelman syndrome (AS) can result from mutations in chromosome 15q11q13 that, when transmitted from father to child, result in no phenotypic abnormality but, when transmitted from mother to child, cause AS. These mutations therefore behave neither as dominant nor as recessive mutations but, rather, show an imprinted mode of inheritance. The authors have analyzed two sibling pairs with AS and a larger family with four AS offspring of three sisters with several recently described microsatellite polymorphisms in the AS region. AS siblings inherited the same maternal alleles at the GABRB3 and GABRA5 loci, and the unaffected siblings of AS individuals inherited the other maternal alleles at these loci. In one of the AS sibling pairs, analysis of a recombination event indicates that the mutation responsible for AS is distal to locus D15S63. This result is consistent with a previously described imprinted submicroscopic ...

1993-07-01

Expression of V642 APP mutant causes cellular apoptosis as Alzheimer trait-linked phenotype.

Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal degenerations caused by mutations in at least 45 genes. Using homozygosity mapping, we identified a ∼4 Mb homozygous region...Full Text Available

2010-09-10

Disruption of the ATP-binding Cassette B7 (ABTM-1/ABCB7) Induces Oxidative Stress and Premature Cell Death in Caenorhabditis elegans*

APP is a transmembrane precursor of beta-amyloid. In dominantly inherited familial Alzheimer's disease (FAD), point mutations V6421, V642F and V642G have been discovered in APP695. Here we show that...Full Text Available

1996-02-01

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Age at onset in Huntington?s disease is modified by the autophagy pathway: implication of the V471A polymorphism in Atg7

X-linked sideroblastic anemia with ataxia (XLSA/A) is a rare inherited disorder characterized by mild anemia and ataxia. XLSA/A is caused by mutations in the ABCB7 gene, which encodes...Full Text Available

2011-06-17

British Library Electronic Table of Contents (United Kingdom)

Huntington?s disease (HD) is caused by an expansion of a polyglutamine repeat of more than 35?units in the huntingtin protein. The expanded repeat length is inversely correlated with the age at onset (AAO); however, additional genetic factors apart from the expanded CAG repeat length can modify the course and the AAO in HD. Aberrations in macroautophagy have been observed in Huntington, Alzheimer, Parkinson, motor neuron and prion diseases. Therefore, we hypothesized that polymorphisms in autophagy-related (Atg) genes might contribute to the variation in the AAO. We initially tested eight single nucleotide polymorphisms in five Atg genes (Atg3, Atg5, Atg7, Atg16L1 and Beclin-1) for their frequency of ?1%. Subsequently, we investigated the polymorphisms Atg7 V471A and Atg16L1 T281A for a di...

2010-01-01

Inherited sterility induced in progeny of gamma irradiated males and females spiny bollworm, Earias Insulana boisd ,effect on fecundity, fertility and mating

Chemical aspects of uranium behavior in soils: A review

adult males and females, less than 24 hours old, of the spiny bollworm, Earias Insulana boisd. were irradiated with sub sterilizing doses of 50,80,100 and 150 gray (Gy). treated moths were out crossed with normal adults and observed for their ability to reproduce. inherited deleterious effects resulting from irradiation of p_1 moths were recorded for several generations. the reduction in both fecundity and egg viability increased by increasing the dose applied to p_1 adult moths .at all tested doses, the females were more radiosensitive than males, as for reduction in fecundity and egg viability. the progeny from irradiated parental females are not as sterile as the progeny from irradiated parental males. the reduction of egg hatching continued in the progeny of irradiated males through F_1 and to lesser extent through F_2 .on the other hand , irradiation of P_1 females reduced the rate of egg hatching among parental generation and to lesser extent among the first ...

2004-02-01

British Library Electronic Table of Contents (United Kingdom)

Uranium has varying degrees of oxidation (+4 and +6) and is responsive to changes in the redox potential of the environment. It is deposited at the reduction barrier with the participation of biota and at the sorption barrier under oxidative conditions. Iron (hydr)oxides are the strongest sorbents of uranium. Uranium, being an element of medium biological absorption, can accumulate (relative to thorium) in the humus horizons of some soils. The high content of uranium in uncontaminated soils is most frequently inherited from the parent rocks in the regions of positive U anomalies: in the soils developed on oil shales and in the marginal zone of bogs at the reduction barrier. The development of nuclear and coal-fired power engineering resulted in the environmental contamination with uranium....

2011-01-01

Novel pseudo-morphotactic synthesis and characterization of tungsten nitride nanoplates

The minimal series of N=1 and N=2 superconformal topological field theory

A novel pseudo-morphotactic transformation route was developed to synthesize polycrystalline ?-W2N nanoplates by thermally treating tungstate-based inorganic-organic hybrid nanobelts with a lamellar microstructure in an NH3 flow. The tungstate-based hybrid nanobelts were formed in a water-in-oil-microemulsion-like 'commercial H2WO4 powders/n-octylamine/heptane' reaction system. The as-obtained hybrid nanobelts were thermally treated in an NH3 atmosphere at 650-800 oC for 2 h to form cubic ?-W2N nanoplates. XRD, SEM, TEM, FT-IR and TG-DTA were used to characterize the precursors and their final products. The polycrystalline ?-W2N nanoplates derived from hybrid nanobelts, with side lengths of several hundred nanometers, consist of small nanocrystals with an average grain size of 3.2 nm. The formation of ?-W2N nanoplates involved two steps: decomposing tungstate-based hybrid nanobelts into WOy and W species and then nitridizing the active W-containing species to ?-W2N nanocrystals in an ...

2011-02-01

Immunomodulatory strategies for relapse after haploidentical hematopoietic stem cell transplantation in hematologic malignancy patients

We obtain conformal invariant topological field theories with N = 2 supersymmetry by twisting Sevrin, Troost and Van Proeyen's SU(2) x SU(2) x U(1) extended N = 4 superconformal field theories. We expect that the number of physical states is finite although the original N = 4 theories have continuous spectra. It is shown that the number of physical states is actually finite when the central charge c < 6 in the corresponding N = 4 theories. The physical states inherit the structure of the chiral ring in N = 2 superconformal minimal series which is obtained by the reduction from N = 4 theories. We also show that the algebra contains the topological N = 4 superconformal algebra as subalgebra. Therefore a closed set of a finite number of physical states in the topological N = 1 superconformal algebra can also be obtained. (orig.).

1991-06-01

British Library Electronic Table of Contents (United Kingdom)

Currently, human leukocyte antigen (HLA)-mismatched/haploidentical allografts have been validated as an alternative stem cell source for patients who have no immediate access to an HLA-matched related or unrelated donor. However, relapse remains a challenge after HLA-mismatched/haploidentical hematopoietic stem cell transplantation (HSCT) that is employed in the treatment of patients with hematological malignancies. In recent years, newly developed immunomodulatory strategies, which include prophylactic and therapeutic donor lymphocyte/natural killer (NK) cell infusion, donor selection based on NK alloreactivity/non-inherited maternal antigen (NIMA), immune reconstitution promotion, and application of exogenous cytokines, have made it possible to decrease the relapse rate and improve outco...

2011-01-01

Emerging global divides in media and communication theory: European universalism versus non-Western reactions

British Library Electronic Table of Contents (United Kingdom)

What Wallerstein described as European universalism dominated media and communication theory until the end of the twentieth century. The three-tier divide of the global economic system (center, semi-periphery, and periphery) explicated in world-system analysis was equally applicable to the global academic/scholarship structure. The non-traditional fields of study, such as media and (mass) communication, inherited the full flavor of European universalism because they originated in the academic institutions of the center countries. The turn of the century saw a dramatic reaction to the Euro-American rhetoric of power. Organized groups of scholars have begun to question the presumption of European universalism in media and communication theory, encompassing its axiology, epistemology/methodol...

2009-01-01

Crystal structure of the human centromeric nucleosome containing CENP-A

British Library Electronic Table of Contents (United Kingdom)

In eukaryotes, accurate chromosome segregation during mitosis and meiosis is coordinated by kinetochores, which are unique chromosomal sites for microtubule attachment. Centromeres specify the kinetochore formation sites on individual chromosomes, and are epigenetically marked by the assembly of nucleosomes containing the centromere-specific histone H3 variant, CENP-A. Although the underlying mechanism is unclear, centromere inheritance is probably dictated by the architecture of the centromeric nucleosome. Here we report the crystal structure of the human centromeric nucleosome containing CENP-A and its cognate ?-satellite DNA derivative (147 base pairs). In the human CENP-A nucleosome, the DNA is wrapped around the histone octamer, consisting of two each of histones H2A, H2B, H4 and CENP...

2011-01-01

ALK, the Key Gene for Gelatinization Temperature, is a Modifier Gene for Gel Consistency in Rice

British Library Electronic Table of Contents (United Kingdom)

Abstract Gelatinization temperature (GT) is an important parameter in evaluating the cooking and eating quality of rice. Indeed, the phenotype, biochemistry and inheritance of GT have been widely studied in recent times. Previous map-based cloning revealed that GT was controlled by ALK gene, which encodes a putative soluble starch synthase II-3. Complementation vector and RNAi vector were constructed and transformed into Nipponbare mediated by Agrobacterium. Phenotypic and molecular analyses of transgenic lines provided direct evidence for ALK as a key gene for GT. Meanwhile, amylose content, gel consistency and pasting properties were also affected in transgenic lines. Two of four nonsynonymous single nucleotide polymorphisms in coding sequence of ALK were identified as essential for GT. ...

2011-01-01

Le leucodistrofie: aspetti clinici e quadri con Tomografia Computerizzata e con Risonanza Magnetica

Inherited sterility progeny gamma irradiated male Spiny Bollworm Earias Insulana Boisd

Leukodystrophies are inherited white matter diseases due to abnormalities occurring in myelin synthesis and/or maintenance. The most common types of these rare childhood conditions are represented by adrenoleukodystrophy, metachromatic leukodystrophy, Canavan's, Alexander's, Krabbe's, and Pelizaeus-Merzbacher's diseases. Most of them are lethal during childhood, with the exception of the adrenoleukodystrophy-adrenomyeloneuropathy complex, which sometimes, during its early phases, may be cured with a dietary therapy. The aims of this paper are: 1) the description of inheritance factors, pathogenesis, pathological and clinical findings of each of the most frequent childhood leukodystrophies; 2) the description of the most common patterns of these conditions on CT and MR imaging; 3) the evaluation of the diagnostic capabilities of these two imaging techniques and the comparison of their results. Finally, some of the therapies suggested for the ...

1991-01-01

Inherited Sterility in Progeny of Gamma-Irradiated Spiny Bollworm, Earias Insulana Boisd

The present work studies the fecundity, egg batching and mating of normal females of Earias Insulana Boisd. crossed with males irradiated as 24 h adult moths with two doses (80 and 100 Gy.) of gamma radiation. The male progeny were out bred or inbred with untreated individuals for two successive generations F_1and F_2 and their progeny was observed for any inherited deleterious effects on reproduction. The female fecundity and egg hatch were significantly reduced among P1,F1 and F2 generations by increasing the dosages applied to P_1 males as compared with the untreated control. The percentage of mating of P_1 females was significantly reduced at the two doses as compared to the untreated control. The average number of spermatophores per mated female was reduced among P_1,F_1 and F_2 generations when parental males were irradiated with 100 Gy. The larval and pupal mortality a,o mg F_1, F_2 and F_3 generations was high and dose dependent. The average developmental ...

2003-01-01

The mouse formin (Fmn) gene: Genomic structure, novel exons, and genetic mapping

The inherited sterility of the spiny bollworm Earias Insulana Boisd. Irradiated as parental male adults, with sub sterilizing doses of 100-200 Gy has been studied throughout three successive generations. In general, the female fecundity decreased at the three doses of irradiations (100, 150 and 200 Gy) throughout P_1. F_1, F_2 and F_3 generations as compared to control. The reduction was insignificant in all treatments with some exceptions at 200 Gy, in the parental generation and 150 and 200 Gy bin F_2 generation. Egg hatch of the parental generation was obviously reduced at 100, 150 and 200 Gy treatments as compared to the control. The progeny of F_1 males were evidently more sterile than their irradiated male parents. The effect continued in the F_2, population, however F_3 males almost regained their fertility. Irradiation of P_1 males did not greatly affect mating ability among P_1, F_1, F_2 and F_3 generations. The reduction in mating ability was significant ...

1999-01-01

Species abundance distributions in neutral models with immigration or mutation and general lifetimes

Mutations in the mouse formin (Fmn) gene, formerly known as the limb deformity (ld) gene, give rise to recessively inherited limb deformities and renal malformations or aplasia. The Fmn gene encodes many differentially processed transcripts that are expressed in both adult and embryonic tissues. To study the genomic organization of the Fmn locus, we have used Fmn probes to isolate and characterize genomic clones spanning 500 kb. Our analysis of these clones shows that the Fmn gene is composed of at least 24 exons and spans 400 kb. We have identified two novel exons that are expressed in the developing embryonic limb bud as well as adult tissues such as brain and kidney. We have also used a microsatellite polymorphism from within the Fmn gene to map it genetically to a 2.2-cM interval between D2Mit58 and D2Mit103. 36 refs., 6 figs., 1 tab.

1997-02-01

CERN Document Server

We consider a general, neutral, dynamical model of biodiversity. Individuals have i.i.d. lifetime durations, which are not necessarily exponentially distributed, and each individual gives birth independently at constant rate \\lambda. We assume that types are clonally inherited. We consider two classes of speciation models in this setting. In the immigration model, new individuals of an entirely new species singly enter the population at constant rate \\mu (e.g., from the mainland into the island). In the mutation model, each individual independently experiences point mutations in its germ line, at constant rate \\theta. We are interested in the species abundance distribution, i.e., in the numbers, denoted I_n(k) in the immigration model and A_n(k) in the mutation model, of species represented by k individuals, k=1,2,...,n, when there are n individuals in the total population. In the immigration model, we prove that the numbers (I_t(k);k\\ge 1) of species ...

2010-01-01

Molecular characterization of cytoplasmic male sterility conditioned by Gossypium harknessii cytoplasm (CMS-D2) in upland cotton

British Library Electronic Table of Contents (United Kingdom)

Cytoplasmic male sterility (CMS) is a maternally inherited trait that fails to produce functional pollen grains. The CMS system is widely employed to facilitate the utilization of heterosis in major crops. However, little is known about the CMS associated genes in Upland cotton (Gossypium hirsutum). The objective of this study was to compare CMS cotton (CMS-D2) with the cytoplasm from G. harknessii and its isogenic maintainer line with the normal fertile Upland cotton cytoplasm to identify CMS-D2 specific gene(s) and to develop CMS-specific sequence characterized amplified region (SCAR) markers. Based on Southern blot analysis using 10 mitochondrial gene-specific probes (cob, cox2, atp6, atp9, nad3, cox3, atpA, cox1, nad6 and nad9), three probes (cox3, atpA, and nad6) revealed restriction ...

2011-01-01

Identification of the binding domain for NADP"+ of human glucose-6-phosphate dehydrogenase by sequence analysis of mutants

Histological changes in the ovaries of the females in three filial generations of spodoptera littoralis (boisd.) after being irradiated as full- grown Male pupae

Human erythrocyte glucose-6-phosphate is normally quite stable in the presence of 10 #mu#M NADP"+. Certain glucose-6-phosphate dehydrogenase variants lose virtually all their activity at this concentration of NADP"+ but are reactivated by 200 #mu#M NADP"+. Such variants presumably have a defect in their NADP"+-binding site. The authors analyzed the sequence of cDNA or genomic DNA from seven unrelated patients with hemolytic anemia due to the inheritance of variants that are reactivated by NADP"+. Six patients had substitutions of one of three adjacent amino acids, and the seventh patient had another amino acid substitution 23 residues downstream. These amino acids are highly conserved, all being present in rat and all but one being found also in Drosophila. The anomalous electrophoretic behavior of some of the variants can be explained by their loss of ability to bind NADP"+. The conclude that the region in which these mutations occur defines the binding domain for ...

Gene linked to Lou Gehrig's disease

the cotton leaf worm, Spodoptera littoralis (boisd.) were irradiated with 100,150 and 200 Gy to induce inherited sterility. the effects of the tested doses applied to these pupae through three consequent fillial generations and the retarded influence on their F_1,F_2 and F_3 generations progeny were examined . irradiation of parental male induced damage to their daughter females ovaries. the overioles of females among P_1 ,F_1 and F_2 generations showed that the follicular epithelial cells appeared abnormal beside their limited separation from developing oocytes which became shrinked, semi absorbed or completely absorbed leaving vacuoles. the nurse cells were reduced or absent in some parts. damage was obvious through the first and second generations especially at 150 and 200 Gy. in the third generation, ovaries were not greatly affected

2004-02-01

Epigenomic disruption: the effects of early developmental exposures.

Scientists have just taken a big step toward understanding the cause of Lou Gehrig's disease, one of the most devastating nerve degenerative diseases. A large team of researchers, led by Robert Brown Jr. of Harvards's Massachusetts General Hospital and Robert Horvitz, a Howard Hughes Medical Institute investigator at the Massachusetts Institute of Technology, report in the 4 March Nature that they've identified the gene that causes a hereditary form of the condition, which also goes by the name amyothophic lateral sclerosis (ALS). While most ALS cases - approximately 90% - are apparently sporadic' and not caused by an inherited gene defect, all the patients have such similar symptons that researchers are hopeful that what they learn about hereditary ALS will also apply to the sporadic form, possibly leading to new therapeutic strategies that will help both. It's a very important finding,' says neurobiologist ...

1993-03-05

Ectopic expression of Cux1 is associated with reduced p27 expression and increased apoptosis during late stage cyst progression upon inactivation of Pkd1 in collecting ducts

Through DNA methylation, histone modifications, and small regulatory RNAs the epigenome systematically controls gene expression during development, both in utero and throughout life. The epigenome is also a very reactive system; its labile nature allows it to sense and respond to environmental perturbations to ensure survival during fetal growth. This pliability can lead to aberrant epigenetic modifications that persist into later life and induce numerous disease states. Endocrine-disrupting compounds (EDCs) are ubiquitous chemicals that interfere with growth and development. Several EDCs also interfere with epigenetic programming. The investigation of the epigenotoxic effects of bisphenol A (BPA), an EDC used in the production of plastics and resins, has further raised concern over the impact of EDCs on the epigenome. Using the Agouti viable yellow (A(vy)) mouse model, dietary BPA exposure was shown to hypomethylate both the A(vy) and the Cabp(IAP) metastable epialleles. This ...

2010-10-01

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British Library Electronic Table of Contents (United Kingdom)

Abstract Polycystic kidney diseases (PKD) are inherited disorders characterized by fluid-filled cysts primarily in the kidneys. We previously reported differences between the expression of Cux1, p21, and p27 in the cpk and Pkd1 null mouse models of PKD. Embryonic lethality of Pkd1 null mice limits its study to early stages of kidney development. Therefore, we examined mice with a collecting duct specific deletion in the Pkd1 gene. Cux1 was ectopically expressed in the cyst lining epithelial cells of newborn, P7 and P15 Pkd1CD mice. Cux1 expression correlated with cell proliferation in early stages of cystogenesis, however, as the disease progressed, fewer cyst lining cells showed increased cell proliferation. Rather, Cux1 expression in late stage cystogenesis was associated with increased ...

2011-01-01

Early cretaceous age of orthogneiss from the Charleston Metamorphic Group, New Zealand

Cyst-like cortical tubers in patients with tuberous sclerosis complex: MR imaging with the FLAIR sequence

Discordant U-Pb zircon isotopic data from amphibolite facies orthogneisses of the Charleston Metamorphic Group, western South Island, New Zealand, define a lower intercept age of 114#+-#18 m.y. that is interpreted as the crystallization age of the orthogneiss magmas. The upper intercept age of 1026#+-#97 m.y. reflects inherited components of Precambrian zircon derived from the source region of the magmas. The age, and whole rock chemical characteristics, indicate that the orthogneisses are part of the same phase of Early cretaceous magmatic activity that produced voluminous arc-related calc-alkaline plutonic rocks throughout western South Island. Previously published K-Ar and Rb-Sr mineral ages indicate uplift and cooling of the Charleston Metamorphic Group to less than 400deg C by 110-90 m.y. This uplift occurred as a consequence of low-angle normal faulting related to the Late Cretaceous breakup of Gondwana, and suggests that regional continental lithospheric ...

Comparison of power system stabilizer design using H{sub {infinity}} optimization and {mu}-synthesis approach

Tuberous sclerosis complex (TSC) is an inherited disorder characterized by the presence of cortical tubers, the majority of which are solid and show high signal on FLAIR images. Low-signal tubers are less frequent. To evaluate cystic cortical tubers in patients with TSC on the basis of their appearance on FLAIR images. MR examinations of 73 patients were retrospectively reviewed and 17 children (aged 25 days to 12.3 years) with a typical cyst-like tubers were selected for further analysis. The age of the patients, the number of lesions, and the shape and MR intensity were analyzed. Cyst-like cortical tubers were detected in 82% of children below 7 years of age and in 18% of those older then 7 years (P=0.00086). Most of the cystic lesions were of the shrunken type (72%), the expansile type being less frequently seen (28%). FLAIR images confirm the cystic character of some of the cortical tubers in TSC patients although the pathogenesis of cystic change is still ...

2006-06-15

Chromosome aberrations in human lymphocytes from the plateau region of the Bragg curve for a carbon-ion beam

Power system operating conditions vary with system configurations and loading conditions. Coefficients in nominal system model change in a complex manner with different operating point and so does system dynamic behavior. With the aid of unstructured and structured uncertainty descriptions, the worst system variations can be estimated and formulated into two different uncertainty models in frequency domain; multiplicative unstructured uncertainty in the form of transfer function and structured uncertainty with the parametric uncertainty description. The uncertainty descriptions are then incorporated into system nominal model to perform H{sub {infinity}} and {mu} based robust power system stabilizer (PSS) design. Both approaches to the PSS design enable the power system to remain stable over a wide range of system operating conditions but the different performance can be observed due to the inheritance of the ways to handle the system uncertainty. 8 refs, 8 figs, 1 ...

1995-11-01

Absence of linkage of apparently single gene mediated ADHD with the human syntenic region of the mouse mutant coloboma

Radiotherapy with high-energy carbon ion beams can be more advantageous compared to photons because of better physical dose distribution and higher biological efficiency in tumour cell sterilization. Despite enhanced normal tissue sparing, damage incurred by normal cells at the beam entrance is unavoidable and may affect the progeny of surviving cells in the form of inheritable cytogenetic alterations. Furthermore, the quality of the beam along the Bragg curve is modified by nuclear fragmentation of projectile and target nuclei in the body. We present an experimental approach based on the use of a polymethylmethacrylate (PMMA) phantom that allows the simultaneous exposure to a particle beam of several biological samples positioned at various depths along the beam path. The device was used to measure the biological effectiveness of a 60 MeV/amu carbon-ion beam at inducing chromosomal aberrations in G{sub 0}-human peripheral blood lymphocytes. Chromosome spreads were ...

2007-06-15

An ELISA-based high throughput protein truncation test for inherited breast cancer

Attention deficit disorder (ADHD) is a complex biobehavioral phenotype which affects up to 8% of the general population and often impairs social, academic, and job performance. Its origins are heterogeneous, but a significant genetic component is suggested by family and twin studies. The murine strain, coloboma, displays a spontaneously hyperactive phenotype that is responsive to dextroamphetamine and has been proposed as a genetic model for ADHD. Coloboma is a semi-dominant mutation that is caused by a hemizygous deletion of the SNAP-25 and other genes on mouse chromosome 2q. To test the possibility that the human homolog of the mouse coloboma gene(s) could be responsible for ADHD, we have carried out linkage studies with polymorphic markers in the region syntenic to coloboma (20p11-p12). Five families in which the pattern of inheritance of ADHD appears to be autosomal dominant were studied. Segregation analysis of the traits studied suggested that the best ...

1995-12-18

Studies on inherited sterility induced in the progeny of gamma irradiated cotton leaf worm, Spodoptera littorals (Boisd.)

IntroductionBreast cancer is the most diagnosed and second leading cause of cancer deaths in the U.S. female population. An estimated 5 to 10 percent of all breast cancers are inherited, caused by mutations in the breast cancer susceptibility genes (BRCA1/2). As many as 90% of all mutations are nonsense mutations, causing a truncated polypeptide product. A popular and low cost method of mutation detection has been the protein truncation test (PTT), where target regions of BRCA1/2 are PCR amplified, transcribed/translated in a cell-free protein synthesis system and analyzed for truncated polypeptides by sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS-PAGE) and autoradiography. We previously reported a novel High Throughput Solid-Phase PTT (HTS-PTT) based on an enzyme-linked immunosorbent assay (ELISA) format that eliminates the need for radioactivity, SDS-PAGE and subjective interpretation of the results. Here, we report the next generation HTS-PTT ...

2010-10-04

Missense mutations in the growth hormone receptor dimerization region in Laron syndrome

Full - grown pupae of the cotton leaf worm Spodoptera littorals (Boisd.) were gamma - irradiated with low doses of 25,50,75, or 100 Gy for male line and with 50 or 100 Gy for female line . The effects on reproduction, development and sex ratio were the biological aspects studied among P1,F1,F2 and F 3 generations . Also, the effects of dose accumulation applied grown male pupae through two or three filial generations and the retarded influence on their F1,F2,and F 3 progeny were examined. In another trial the histological examinations for ovaries and testes of irradiated parents and for their generation were made . The F1 males were more sterile than irradiated parental males while F1 females were more fertile than their irradiated parental females. Irradiation of P1 males did not clearly affect neither the percentage of mated females nor the average number of spermatophores per mated female among the individuals of P1,F1,F2 and F 3 generations. Irradiation of P1 females did not affect ...

Inherited partial direct duplication of 11q: First report and possible association with a midline developmental field defect

Laron syndrome (LS) is an autosomal recessively inherited condition characterized by insensitivity to endogenous and exogenous GH. Affected individuals have severe episodes and other characteristic features. GH receptor gene mutations are present in all affected individuals in whom molecular studies have been reported. The GH receptor is a plasma membrane-spanning protein in which the extracellular domain binds circulating GH and the intracellular domain interacts with the JAK-2 kinase and possibly other intracellular signaling molecules. GH receptor dimerization occurs on GH binding and is thought to be required for normal signal transduction. We have studied the GH receptor genes of four unrelated individuals affected with LS from the United States, Italy, Saudi Arabia, and India. We have identified four different missense mutations that alter consecutive amino acids 152 to 155 in or near the dimerization domain of the GH receptor. One of these mutations, D152H, ...

1994-09-01

Harm to the cell and harm to the individual

A 36-year-old woman underwent amniocentesis for advanced maternal age. The fetal karyotype had an extra dark staining G band on the long arm of chromosome 11 with no other identifiable abnormalities. FISH studies using a chromosome 11 paint probe confirmed the origin of the extra band. The abnormality was identified as a partial duplication of 11q: 46,XX dir dup (11)(q13.5q21) or (q21q23.1). The specific duplicated band could not be identified with certainty. Detailed fetal sonograms were normal. Family studies revealed the identical duplication in the mother but normal karyotypes in both maternal grandparents. The mother had strabismus and a short tongue frenulum which required surgical correction. Menses occurred late in adolescence and complete development of secondary sexual characteristics was delayed until adulthood. An infertility evaluation revealed duplication of the uterus, cervix, and vagina. An evaluation for metorrhagia identified a pituitary adenoma which was resected. ...

1994-09-01

Genetic and physical location of the gene for Stargardt`s disease and further evidence for genetic homogeneity

Exposures from most natural and artificial sources, with the exception of those from medical radiology, are received at average dose rates of only a few microsieverts a day. Such risks as may be caused by these exposures are most unlikely to be determined with precision directly by epidemiological studies of populations exposed at these low rates. They may, however, be reliably inferred from the observed risks of exposure to rather larger doses delivered at higher dose rates in the light of the increasing knowledge of the phenomena involved in the initial cellular damage, the extent to which such damage is incorrectly repaired, and the processes which intervene between the genetic or other harm to cells and the likelihood of its final expression in inherited abnormality, in cancer development, or in defective foetal or embryonic growth. Current studies are of great importance, therefore, in examining the circumstances in which coding sections of the chromosomal DNA ...

1983-04-11

Fifty years of federal radioactive waste management: Policies and practices

Stargardt`s disease is inherited as an autosomal recessive condition characterized by a juvenile macular dystrophy. Genetic linkage analysis recently assigned the disease locus to chromosome 1p21-p13 with the best estimate for location of the gene near the locus D1S435. We performed linkage analysis in 34 North American families and 2 inbred families from the Kingdom of Saudi Arabia with 12 highly polymorphic markers on chromosome 1p flanking D1S435 between D1S207 and D1S223 and report significant linkage for all 12 markers with no evidence for genetic heterogeneity. Two-point linkage analysis demonstrated the Stargardt`s disease locus and D1S435 are linked with a maximum lod score of 17.17 at a recombination fraction of 1%. The markers UT851, D1S188, D1S424, UT2069, and D1S236 also demonstrated recombination fractions of 1% or less with two-point lod scores of 15.86, 21.93, 16.41, 20.36, and 17.37, respectively. To characterize this region further, fifty-five YACs ...

1994-09-01

Closed string tachyons, AdS/CFT, and large N QCD

This report provides a chronological history of policies and practices relating to the management of radioactive waste for which the US Atomic Energy Commission and its successor agencies, the Energy Research and Development Administration and the Department of Energy, have been responsible since the enactment of the Atomic Energy Act in 1946. The defense programs and capabilities that the Commission inherited in 1947 are briefly described. The Commission undertook a dramatic expansion nationwide of its physical facilities and program capabilities over the five years beginning in 1947. While the nuclear defense activities continued to be a major portion of the Atomic Energy Commission`s program, there was added in 1955 the Atoms for Peace program that spawned a multiplicity of peaceful use applications for nuclear energy, e.g., the civilian nuclear power program and its associated nuclear fuel cycle; a variety of industrial applications; and medical research, ...

1997-04-01

Closed String Tachyons, AdS/CFT, and QCD

We find that tachyonic orbifold examples of AdS/CFT have corresponding instabilities at small radius, and can decay to more generic gauge theories. We do this by computing a destabilizing Coleman-Weinberg effective potential for twisted operators of the corresponding quiver gauge theories, generalizing calculations of Tseytlin and Zarembo, and interpreting them in terms of the large-N behavior of twisted-sector modes. The dynamically generated potential involves double-trace operators, which affect large-N correlators involving twisted fields but not those involving only untwisted fields, in line with large-N inheritance arguments. We point out a simple reason that no such small radius instability exists in gauge theories arising from freely acting orbifolds, which are tachyon free at large radius. When an instability is present, twisted gauge theory operators with the quantum numbers of the large-radius tachyons aquire vacuum expectation values, leaving a gauge ...

2001-10-15

Cloning of Drosophila transcription factor Adf-1 reveals homology to Myb oncoproteins.

We find that tachyonic orbifold examples of AdS/CFT have corresponding instabilities at small radius, and can decay to more generic gauge theories. We do this by computing a destabilizing Coleman-Weinberg effective potential for twisted operators of the corresponding quiver gauge theories, generalizing calculations of Tseytlin and Zarembo and interpreting them in terms of the large-N behavior of twisted-sector modes. The dynamically generated potential involves double-trace operators, which affect large-N correlators involving twisted fields but not those involving only untwisted fields, in line with large-N inheritance arguments. We point out a simple reason that no such small radius instability exists in gauge theories arising from freely acting orbifolds, which are tachyon-free at large radius. When an instability is present, twisted gauge theory operators with the quantum numbers of the large-radius tachyons acquire VEVs, leaving a gauge theory with fewer ...

2001-07-25

Case report: Denys- Drash syndrome.

The Drosophila sequence-specific DNA binding protein, Adf-1, is capable of activating transcription of the alcohol dehydrogenase gene, Adh, and is implicated in the transcriptional control of other developmentally regulated genes. We have cloned the cDNA encoding Adf-1 by generating specific DNA probes deduced from partial amino acid sequence of the protein. Several cDNA clones encoding an extended open reading frame were isolated from a phage lambda library. The complete amino acid sequence of Adf-1 deduced from the longest cDNA reveals structural similarities to the putative helix-turn-helix DNA binding motif of Myb and Myb-related proteins. DNA sequence analysis of genomic clones and Northern blot analysis of mRNA suggest that Adf-1 is a single-copy gene encoding a 1.9-kb transcript. Purified recombinant Adf-1 expressed in Escherichia coli binds specifically to Adf-1 recognition sites and activates transcription of a synthetic Adh promoter in vitro in a manner indistinguishable from ...

1992-01-15

Uranium-lead zircon ages from the Median Tectonic Zone, New Zealand

BACKGROUND: Denys-Drash Syndrome (DDS) is an uncommon disorder that appears sporadically and in rare cases may be inherited as an autosomal dominant trait It manifests either at birth or within the first year of life and typically consists of the triad of congenital nephropathy, Wilms tumour and intersex disorder. CASE REPORT: A 10 year-old Caucasian girl was referred to the Dental Department, at Glasgow Royal Hospital for Sick Children by her Paediatric Nephrologist Consultant. The patient was being teased by her peers over her markedly discoloured teeth. The dental history revealed that the patient was a regular dental attendee from an early age. She was dentally anxious having only experienced dental treatment under general anaesthesia (GA) when she was 4 years old. Apparently her primary dentition also showed a generalised discolouration. TREATMENT: This consisted of multiple visits for diet analysis and tooth brushing instruction with the use of disclosing ...

2007-12-01

Functional imaging of neurocognitive dysfunction in attention deficit hyperactivity disorder; Bildgebende Darstellung neurokognitiver Dysfunktionen bei der Aufmerksamkeitsdefizit-/Hyperaktivitaetsstoerung

The Median Tectonic Zone (MTZ) of New Zealand is a generally north trending belt of Mesozoic subduction related I-type plutonic, volcanic, and sedimentary rocks in South Island and Stewart Island that separates Permian strata of the Eastern Province Brook Street Terrane from lower to mid Gondwana margin assemblages of the Western Province. High precision isotope dilution U/Pb ages of zircons from 30 rocks are reported. Pre-digestion leaching of zircon in hydrofluoric acid yielded significantly more concordant residues by removing common Pb and dissolving more soluble high-U domains that have been more affected by relatively recent Pb loss. The results show that MTZ magmatism ranges in age from at least Early Triassic to Early Cretaceous (247-131 Ma), with a pronounced gap in the Middle Jurassic. Triassic plutons tend to occur on the eastern side of the MTZ, and they intrude volcanic/sedimentary sequences of the MTZ in Nelson and eastern Fiordland. These sequences are in turn intruded ...

Challenges for Lithuania: Ignalina NPP Early Closure

Attention Deficit Hyperactivity Disorder (ADHD) is a neurobiological disorder of early childhood onset. Defining symptoms are chronic impairments of attention, impulse control and motor hyperactivity that frequently persist until adulthood. Miscellaneous causes of the disorder have been discussed. Accumulating evidence from imaging- and molecular genetic studies strengthened the theory of ADHS being a predominantly inherited disorder of neurobiological origin. In the last 15 years, non-invasive brain imaging methods were successfully implemented in pediatric research. Functional magnetic resonance imaging studies gave major insight into the neurobiological correlates of executive malfunction, inhibitory deficits and psychomotoric soft signs. These findings are in good accordance with brain morphometric data indicating a significant volumetric decrease of major components of striato-thalamo-cortical feedback loops, primarily influencing prefrontal executive ...

2005-02-01