Results 91 to 100 of about 236,698 (345)
Spatially explicit non-Mendelian diploid model
, 2009 We introduce a spatially explicit model for the competition between type $a$ and type $b$ alleles. Each vertex of the $d$-dimensional integer lattice is occupied by a diploid individual, which is in one of three possible states or genotypes: $aa$, $ab ...
Lanchier, N., Neuhauser, C.
core +1 more source
Inflammation, Insulin Resistance, and Diabetes—Mendelian Randomization Using CRP Haplotypes Points Upstream [PDF]
, 2008 Background Raised C-reactive protein (CRP) is a risk factor for type 2 diabetes. According to the Mendelian randomization method, the association is likely to be causal if genetic variants that affect CRP level are associated with markers of diabetes ...
Brunner, Eric J +15 more
core +5 more sources
Advanced Science, EarlyView.Box C/D snoRNP complex regulates protein translation. This study identifies ZNHIT3 as a key component of the complex and ensures normal protein expression, including transcription factors orchestrating cell fate commitment, during early mouse embryogenesis.
Guanghui Yang, Qiliang Xin, Jurrien Dean
wiley +1 more source
Relationship between NAFLD and coronary artery disease: A Mendelian randomization study
Hepatology, EarlyView., 2022 Abstract Background and Aims There is an ongoing debate on whether NAFLD is an active contributor or an innocent bystander in the pathogenesis of coronary artery disease (CAD). The aim of the present study was to assess the causal relationship between NAFLD and CAD.
Zhewen Ren +4 more
wiley +1 more source
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone
Annals of Clinical and Translational NeurologyObjective Most families with heritable neuromuscular disorders do not receive a molecular diagnosis. Here we evaluate diagnostic utility of exome, genome, RNA sequencing, and protein studies and provide evidence‐based recommendations for their ...
Rhett G. Marchant +29 more
doaj +1 more source
A Model of Epigenetic Inheritance Accounts for Unexpected Adaptation to Unforeseen Challenges
Advanced Science, EarlyView.A general model of inheriting changes that are acquired during the lifetime of individuals demonstrates tremendous benefits to the population, including escape from extinction in changing environments. Contrasting the model with experimental data shows that inheritance of acquired changes enables rapid adaptation to unforeseen challenges, and accounts ...
Dino Osmanović +2 more
wiley +1 more source
Hepatology, EarlyView., 2022 A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan +19 more
wiley +1 more source
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases. [PDF]
, 2018 PurposeTo describe examples of missed pathogenic variants on whole-exome sequencing (WES) and the importance of deep phenotyping for further diagnostic testing.MethodsGuided by phenotypic information, three children with negative WES underwent targeted ...
Bellet, Jane +27 more
core +1 more source
Advanced Science, EarlyView.This study highlights the critical role of IRF8 in the development of AAA. IRF8 activation promotes the differentiation of cDC1s, which in turn recruit and activate CD8+ T cells, contributing to aortic wall degradation. The study identifies the IRF8‐cDC1‐CD8+ T cell axis as a key pathway in AAA progression, offering new potential therapeutic targets to
Zhen Yuan +11 more
wiley +1 more source