Results 21 to 30 of about 825,099 (241)

Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles

open access: yeseLife, 2016
Premature fusion of the cranial sutures (craniosynostosis), affecting 1 in 2000 newborns, is treated surgically in infancy to prevent adverse neurologic outcomes.
Andrew T Timberlake   +23 more
doaj   +1 more source

Genetics of human obesity [PDF]

open access: yesComptes Rendus. Biologies, 2005
The rapid development of new concepts and tools has led to a change in the way in which researchers carry out nutrition-related research. Obesity is determined by the interaction between predisposing genetic and environmental aspects, but at present the gene–gene and gene–environment interactions contributing to the development of this complex disease ...
openaire   +4 more sources

Genetic similarity versus genetic ancestry groups as sample descriptors in human genetics [PDF]

open access: yesarXiv, 2022
A common sample descriptor in human genomics studies is that of 'genetic ancestry group', with terms such as 'European genetic ancestry' or 'East Asian genetic ancestry' frequently used in publications to describe the genetics of groups of individuals based on the analysis of their genotypes.
arxiv  

Resposta ao trabalho de Kent e Santos: "'Os charruas vivem' nos Gaúchos: a vida social de uma pesquisa de 'resgate' genético de uma etnia indígena extinta no Sul do Brasil"

open access: yesHorizontes Antropológicos, 2012
As atividades oriundas de ações humanas, incluindo pesquisas científicas, são estruturadas sob contextos individuais e coletivos. A artigo de Kent e Santos considera isso num cenário específico, mas ao descreverem tal fato eles também dão margem a ações ...
Maria Cátira Bortolini
doaj   +1 more source

Sex-specific differences in peripheral blood leukocyte transcriptional response to LPS are enriched for HLA region and X chromosome genes

open access: yesScientific Reports, 2021
Sex-specific differences in prevalence are well documented for many common, complex diseases, especially for immune-mediated diseases, yet the precise mechanisms through which factors associated with biological sex exert their effects throughout life are
Michelle M. Stein   +8 more
doaj   +1 more source

SHANK2 mutations impair apoptosis, proliferation and neurite outgrowth during early neuronal differentiation in SH-SY5Y cells

open access: yesScientific Reports, 2021
SHANK2 mutations have been identified in individuals with neurodevelopmental disorders, including intellectual disability and autism spectrum disorders (ASD).
Christine Unsicker   +5 more
doaj   +1 more source

Genetic evolution of a multi-generational population in the context of interstellar space travels -- Part I: Genetic evolution under the neutral selection hypothesis [PDF]

open access: yesarXiv, 2021
We updated the agent based Monte Carlo code HERITAGE that simulates human evolution within restrictive environments such as interstellar, sub-light speed spacecraft in order to include the effects of population genetics. We incorporated a simplified -- yet representative -- model of the whole human genome with 46 chromosomes (23 pairs), containing 2110
arxiv  

Human genetic admixture through the lens of population genomics [PDF]

open access: yesarXiv, 2021
Over the last fifty years, geneticists have made great strides in understanding how our species' evolutionary history gave rise to current patterns of human genetic diversity classically summarized by Lewontin in his 1972 paper, 'The Apportionment of Human Diversity'.
arxiv  

HUMAN TASTE GENETICS [PDF]

open access: yesAnnual Review of Genomics and Human Genetics, 2005
▪ Abstract  Humans show substantial differences in taste sensitivity to many different substances. Some of this variation is known to be genetic in origin, and many other inter-individual differences are likely to be partially or wholly determined by genetic mechanisms. Recent advances in the understanding of taste at the molecular level have provided
openaire   +3 more sources

Conflation of Short Identity-by-Descent Segments Bias Their Inferred Length Distribution

open access: yesG3: Genes, Genomes, Genetics, 2016
Identity-by-descent (IBD) is a fundamental concept in genetics with many applications. In a common definition, two haplotypes are said to share an IBD segment if that segment is inherited from a recent shared common ancestor without intervening ...
Charleston W. K. Chiang   +2 more
doaj   +1 more source

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