Results 91 to 100 of about 79,198 (289)
Using GWAS Data to Identify Copy Number Variants Contributing to Common Complex Diseases
, 2010 Copy number variants (CNVs) account for more polymorphic base pairs in the human genome than do single nucleotide polymorphisms (SNPs). CNVs encompass genes as well as noncoding DNA, making these polymorphisms good candidates for functional variation ...
Teslovich, Tanya M., Zöllner, Sebastian
core +1 more source
Engineered non-Mendelian inheritance of entire parental genomes in C. elegans [PDF]
Nature Biotechnology, 2016 The ability to rewrite the rules of genetic segregation would open new possibilities in diverse areas of biotechnology ranging from breeding to epigenetics. Here we engineer non-Mendelian inheritance of the entire maternal or paternal genome in Caenorhabditis elegans by changing the structure of the mitotic spindle during the first cell division of the
Besseling, J., Bringmann, H.
openaire +3 more sources
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
Hyper-IgE syndrome. Lessons from function and defects of STAT-3 or DOCK-8
Revista Alergia México, 2016 In the classification of primary immunodeficiencies, hyper-IgE syndrome, identified with OMIM code # 147060 in the Online Mendelian Inheritance in Man catalog, belongs to the group of syndromes associated with combined immunodeficiencies.
Julio César Alcántara-Montiel +1 more
doaj +1 more source
Annals of Neurology, EarlyView.Objective Identifying modifiable factors influencing amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) risk is important for prevention. Blood biomarkers, particularly cholesterol, have been associated with neurodegenerative risk, but findings in ALS are inconsistent, and data on FTD are limited.
Christos V. Chalitsios +5 more
wiley +1 more source
, 1951 The field under review is growing so rapidly that it is impossible to cover more than a sampling of recent papers in the allotted space. Important subjects such as the genetics and chemistry of viruses and certain topics in bacterial genetics have had ...
Horowitz, N. H., Mitchell, H. K.
core +1 more source
Identification of novel genes regulating the development of the palate
Developmental Dynamics, EarlyView.Abstract Background The International Mouse Phenotyping Consortium (IMPC) has generated thousands of knockout mouse lines, many of which exhibit embryonic or perinatal lethality. Using micro‐computed tomography (micro‐CT), the IMPC has created and publicly released three‐dimensional image data sets of embryos from these lethal and subviable lines.
Ashwin Bhaskar, Sophie Astrof
wiley +1 more source
SNP Miniplexes for Individual Identification of Random-Bred Domestic Cats. [PDF]
, 2016 Phenotypic and genotypic characteristics of the cat can be obtained from single nucleotide polymorphisms (SNPs) analyses of fur. This study developed miniplexes using SNPs with high discriminating power for random-bred domestic cats, focusing on ...
Brooks, Ashley +5 more
core +2 more sources
Algebraic model of non-Mendelian inheritance
Discrete & Continuous Dynamical Systems - S, 2011 Evolution algebra theory is used to study non-Mendelian inheritance, particularly organelle heredity and population genetics of Phytophthora infectans. We not only can explain a puzzling feature of establishment of homoplasmy from heteroplasmic cell population and the coexistence of mitochondrial triplasmy, but also can predict all mechanisms to ...
openaire +1 more source
Non-Mendelian Inheritance of DNA-Induced Inositol Independence in Neurospora [PDF]
Proceedings of the National Academy of Sciences, 1973 Inositol-independent ( inos + ) revertants of Neurospora induced in inositol-requiring mutants by treatment with wild-type DNA in previous studies were found to be stable and to grow well in the absence of inositol. Genetic data presented in this paper show that a major proportion
N C, Mishra, E L, Tatum
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