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1

Separation of Pu-238 and Pu-242 from irradiated Am-241  

International Nuclear Information System (INIS)

... americium 241 americium 242 daughter products ion exchange chromatography isotope ratio neutron beams plutonium 238 plutonium 242 ... Authors Watanabe, Kenju; Sagawa, Chiaki; Ueno, Kaoru (Japan Atomic Energy Research Inst., Tokai, Ibaraki. Tokai Research Establishment)

2

Mutations in RNA Binding Protein Gene Cause Familial Dilated Cardiomyopathy  

UK PubMed Central (United Kingdom)

ObjectivesWe sought to identify a novel gene for dilated cardiomyopathy (DCM).BackgroundDCM is a heritable, genetically...Full Text Available

2009-09-01

3

Methods in DNA methylation profiling  

UK PubMed Central (United Kingdom)

Metastable and somatically heritable patterns of DNA methylation provide an important level of genomic regulation. In this article, we review methods for analyzing these genome-wide epigenetic...Full Text Available

2009-12-01

4

Cis-regulatory mutations in human disease  

UK PubMed Central (United Kingdom)

Cis-acting regulatory sequences are required for the proper temporal and spatial control of gene expression. Variation in gene expression is highly heritable and a significant determinant...Full Text Available

2009-07-01

5

Coupled-channels analysis of /sup 12/C and /sup 7/Li scattering using the Watanabe superposition model  

Energy Technology Data Exchange (ETDEWEB)

Angular distributions for the elastic and inelastic scattering of /sup 12/C at 80 MeV by /sup 88/Sr and of /sup 7/Li at 36, 42 and 48 MeV by /sup 54/Fe have been analysed. The optical potentials of /sup 12/C and /sup 7/Li ions are calculated in terms of the alpha-particle and triton optical potentials. Coupled-channels calculations using these potentials are performed. Good fits to the experimental data and the phenomenological calculations are obtained for /sup 12/C projectiles.

1983-11-01

6

Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1).  

UK PubMed Central (United Kingdom)

BACKGROUND: Epidermolysis bullosa (EB) is a group of heritable diseases that manifest as blistering and erosions of the skin and mucous membranes. In the dystrophic forms of EB (DEB), the diagnostic...Full Text Available

1996-01-01

7

Personalized Epigenomic Signatures That Are Stable Over Time and Covary with Body Mass Index  

UK PubMed Central (United Kingdom)

The epigenome consists of non–sequence-based modifications, such as DNA methylation, that are heritable during cell division and that may affect normal phenotypes and predisposition...Full Text Available

2010-09-15

8

Persistent Staphylococcus aureus Colonization Is Not a Strongly Heritable Trait in Amish Families  

UK PubMed Central (United Kingdom)

About 20% of adults are persistently colonized with S. aureus in the anterior nares. Host genetic factors could contribute susceptibility to this phenotype. The objective of...Full Text Available

9

Olfactory copy number association with age at onset of Alzheimer disease  

UK PubMed Central (United Kingdom)

Objectives:Copy number variants (CNVs) have been recognized as a source of genetic variation that contributes to disease phenotypes. Alzheimer disease (AD) has high heritability...Full Text Available

2011-04-12

10

Heritability of Measures of Kidney Disease Among Zuni Indians: The Zuni Kidney Project  

UK PubMed Central (United Kingdom)

BackgroundThe long-term goal of the GKDZI (Genetics of Kidney Disease in Zuni Indians) Study is to identify genes, environmental factors, and genetic-environmental...Full Text Available

2010-08-01

11

Heritability of Lumbar Trabecular Bone Mechanical Properties in Baboons  

UK PubMed Central (United Kingdom)

Genetic effects on mechanical properties have been demonstrated in rodents, but not confirmed in primates. Our aim was to quantify the proportion of variation in vertebral trabecular bone mechanical...Full Text Available

2010-03-01

12

Estimating Missing Heritability for Disease from Genome-wide Association Studies  

UK PubMed Central (United Kingdom)

Genome-wide association studies are designed to discover SNPs that are associated with a complex trait. Employing strict significance thresholds when testing individual SNPs avoids false positives at...Full Text Available

2011-03-11

13

Completely phased genome sequencing through chromosome sorting  

UK PubMed Central (United Kingdom)

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

14

Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study  

UK PubMed Central (United Kingdom)

Partial epilepsies have a substantial heritability. However, the actual genetic causes are largely unknown. In contrast to many other common diseases for which genetic association-studies have successfully...Full Text Available

2010-07-01

15

Air pollution induces heritable DNA mutations  

UK PubMed Central (United Kingdom)

Hundreds of thousands of people worldwide live or work in close proximity to steel mills. Integrated steel production generates chemical pollution containing compounds that can induce genetic damage...Full Text Available

2002-12-10

16

A Cytogenetic Abnormality and Rare Coding Variants Identify ABCA13 as a Candidate Gene in Schizophrenia, Bipolar Disorder, and Depression  

UK PubMed Central (United Kingdom)

Schizophrenia and bipolar disorder are leading causes of morbidity across all populations, with heritability estimates of ∼80% indicating a substantial genetic component. Population genetics...Full Text Available

2009-12-11

17

Genetic variability, heritability and genetic advance for seedling traits in sorghum genotypes  

International Nuclear Information System (INIS)

Analysis of data on seedling traits from 20 diverse genotypes revealed significant differences fro most of the seedling traits. Significant estimates of broad-sense heritability were observed for VI, ERI, FRTW, DRTW and R/S ratio. Genetic advance was maximum for VI,ERI and E%. The correlation of VI with ERI and R/S ratio was negative and significant, whereas it was positive and significant with E%, FSHW and DSHW. Characterization of the sorghum genotypes according to Anderson's Metro glyph Statistics revealed five different groups for seedling trails. (authors)

1999-01-01

18

What is the heritable component of spinal deformities in the European sea bass (Dicentrarchus labrax)?  

British Library Electronic Table of Contents (United Kingdom)

Malformations in farmed fish are a prime research topic as it has a major impact on fish welfare and on the economical value of the product. In this study, the genetic component of spine deformities was estimated in European sea bass, a major species of Mediterranean aquaculture, with the use of a posteriori reconstruction of pedigree with microsatellites. Our population exhibited a very high malformation rate (81%), probably due to intense swimming of fish during pre-growing. The heritability of global spine deformities was evaluated to be 0.21?0.04 on the underlying scale (0.33?0.06 for lordosis, 0.13?0.04 for scoliosis). Deformities scored by an internal or external examination turned out to be genetically the same trait (genetic correlations>0.9), although phenotypic correlations were ...

2009-01-01

19

Estimates of quantitative genetic parameters of immunological traits in the chicken.  

Science.gov (United States)

Three in vivo assays were used to measure the immunocompetence of chickens in two generations of a selection experiment. The obtained data were used to estimate the variance components for sire and dam for antibody production to Pasteurella multocida and Mycoplasma gallisepticum vaccines, for T-cell-mediated immunity evaluated by a phytohemagglutinin wing web assay, and for clearance of foreign particles from the circulatory system. Heritabilities of and genetic correlations among these immunological traits were calculated from the sire variance components. Heritability estimates of the immunological traits based on the sire component of variance ranged from .06 to .53, and genetic correlations among immunological traits were generally negative. PMID:1956847

1991-10-01

20

Abnormalities of polymorphonuclear leukocyte function associated with a heritable deficiency of high molecular weight surface glycoproteins (GP138): common relationship to diminished cell adherence.  

UK PubMed Central (United Kingdom)

Investigations of polymorphonuclear leukocyte (PMN) function were performed in a 5-yr-old white female with delayed umbilical cord separation, impaired pus formation, and a severe defect of PMN chemotaxis....Full Text Available

1984-08-01

 
 
 
 
21

Genome lability in radiation-induced transformants of C3H 10T1/2 mouse fibroblasts  

Energy Technology Data Exchange (ETDEWEB)

We have been investigating radiation-induced neoplastic transformants of C3H 10T1/2 mouse fibroblasts for evidence of heritable changes. C3H 10T1/2 cells were treated with 8 Gy X rays. After approximately 8 weeks of culture, type II/III foci were isolated from the monolayer using cloning rings. Cell lines developed from these foci, and clones established from these cell lines, were examined for DNA content. The isolated focus-derived populations and derived clones often display aneuploidy and/or polyploidization. In one instance a clone (derived from a single cell) displayed multiple polyploidies. During passage the ploidy of many of the anomalous populations gradually reverted to the ploidy of the non-neoplastically transformed state. The morphological features associated with the neoplastic transformation event were nevertheless retained. The results demonstrate that exposure to radiation can induce, in association with morphological neoplastic transformation, a ...

1994-04-01

22

Update on Environmental Risk Factors for Attention-Deficit/Hyperactivity Disorder  

British Library Electronic Table of Contents (United Kingdom)

Attention-deficit/hyperactivity disorder (ADHD) is a prevalent neurobehavioral disorder affecting 5% to 10% of children. Although considered to be a highly familial disorder, ADHD heritability estimates of 60% to 80% highlight the considerable role that environmental factors may still play in disorder susceptibility. Proposed ADHD environmental risk factors include prenatal substance exposures, heavy metal and chemical exposures, nutritional factors, and lifestyle/psychosocial factors. This paper reviews the literature published in 2010 investigating the association between environmental risk factors and ADHD or related symptomatology. Sources of risk factor exposure and the proposed mechanism by which each exposure is linked to ADHD-related neurobehavioral changes are also reported. Metho...

2011-01-01

23

The epidemiology of Graves' disease: Evidence of a genetic and an environmental contribution  

British Library Electronic Table of Contents (United Kingdom)

Previous family and twin studies have indicated that Graves' disease has a heritable component. Family studies have also shown that some autoimmune disease cluster in families and genetic studies have been able to show shared susceptibility genes. In the present nation-wide study we describe familial risk for Graves' disease among parents and offspring, singleton siblings, twins and spouses with regard to age of onset, gender and number and type of affected family members. Additionally familial association of Graves' disease with any of 33 other autoimmune and related conditions was analyzed. The Swedish Multigeneration Register on 0-75-year-old subjects was linked to the Hospital Discharge Register from years 1987-2007. Standardized incidence ratios (SIRs) were calculated for individuals ...

2010-01-01

24

Subjective effects to cannabis are associated with use, abuse and dependence after adjusting for genetic and environmental influences  

British Library Electronic Table of Contents (United Kingdom)

Background Previous reports in adults have suggested that the effects experienced after cannabis use can be described in terms of positive and negative subtypes that are heritable and are associated with abuse and dependence. This study extends existing research by inclusion of adolescents and young adults in an offspring of twins design which makes it possible to take into account genetic and environmental risks for substance use disorder. Methods Data were collected from 725 twin members of the Vietnam Era Twin Registry, 839 of their 12-32 year old biological offspring and 427 mothers. Offspring who had ever used cannabis (n=464) were asked the degree to which they typically experienced 13 subjective effects shortly after using cannabis. Latent class analysis (LCA) was used to derive sub...

2009-01-01

25

Ectopic mineralization of connective tissue in Abcc6-/- mice: effects of dietary modifications and a phosphate binder - a preliminary study  

British Library Electronic Table of Contents (United Kingdom)

Please cite this paper as: Ectopic mineralization of connective tissue in Abcc6-/- mice: effects of dietary modifications and a phosphate binder - a preliminary study. Experimental Dermatology 2008; 17: 203-207. Abstract: Pseudoxanthoma elasticum (PXE), a heritable multisystem disorder, is caused by mutations in the ABCC6 gene. We have developed a murine model for PXE by targeted inactivation of the corresponding mouse gene. A feature of this mouse model is ectopic mineralization of connective tissue capsule surrounding the bulb of vibrissae. This study was designed to investigate the effect of dietary sevelamer hydrochloride (Renagel), a phosphate binder, and specific mineral modifications on ectopic mineralization of connective tissue in Abcc6-/- mice. Three groups were fed a specific di...

2008-01-01

26

Darwinian Controversies: An Historiographical Recounting  

British Library Electronic Table of Contents (United Kingdom)

This essay reviews key controversies in the history of the Darwinian research tradition: the Wilberforce-Huxley debate in 1860, early twentieth-century debates about the heritability of acquired characteristics and the consistency of Mendelian genetics with natural selection; the 1925 Scopes trial about teaching evolution; tensions about race, culture, and eugenics at the 1959 centenary celebration Darwin?s Origin of Species; adaptationism and its critics in the Sociobiology debate of 1970s and, more recently, Evolutionary Psychology; and current disputes about Intelligent Design. These controversies, I argue, are etched into public memory because they occur at the emotionally charged boundaries between public-political, technical-scientific, and personal-religious spheres of discourse. Ov...

2010-01-01

27

Genetic control of immune response to pseudorabies and atrophic rhinitis vaccines: II. Comparison of additive direct and maternal genetic effects.  

Science.gov (United States)

Data from 52 litters farrowed in two seasons of a cross-fostering experiment were analyzed to estimate variances and covariances for additive direct and maternal genetic effects on immune response to pseudorabies virus and B. bronchiseptica vaccine. Twenty purebred boars and 44 sows of the Duroc, Landrace and Yorkshire breeds were used. Immune response was measured after vaccine challenge. A modified-live pseudorabies (PR) vaccine was administered to piglets at 28 d of age; response was measured by log2 serum neutralization titers at 56 d. An inactivated B. bronchiseptica bacterin was administered at 28, 42 and 112 d. Antibody levels were measured relative to positive and negative controls at 28, 56 and 119 d by using an enzyme-linked immunosorbent assay (ELISA). Results from this study for heritability were .18 +/- .09 for PR titer and .15 +/- .07 and .52 +/- .15 for 56- and 119-d ELISA values, respectively. The variability due to nurse environment (maternal ...

1987-02-01

28

Epigenomic disruption: the effects of early developmental exposures.  

Science.gov (United States)

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

29

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

Energy Technology Data Exchange (ETDEWEB)

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

30

Association of attention-deficit disorder and the dopamine transporter gene  

Energy Technology Data Exchange (ETDEWEB)

Attention-deficit hyperactivity disorder (ADHD) has been shown to be familial and heritable, in previous studies. As with most psychiatric disorders, examination of pedigrees has not revealed a consistent Mendelian mode of transmission. The response of ADHD patients to medications that inhibit the dopamine transporter, including methylphenidate, amphetamine, pemoline, and bupropion, led us to consider the dopamine transporter as a primary candidate gene for ADHD. To avoid effects of population stratification and to avoid the problem of classification of relatives with other psychiatric disorders as affected or unaffected, we used the haplotype-based haplotype relative risk (HHRR) method to test for association between a VNTR polymorphism at the dopamine transporter locus (DAT1) and DSM-III-R-diagnosed ADHD (N = 49) and undifferentiated attention-deficit disorder (UADD) (N = 8) in trios composed of father, mother, and affected offspring. HHRR analysis revealed ...

1995-04-01