Frontiers in Cardiovascular Medicine, 2022 BackgroundsGene polymorphisms are critical for variations in warfarin dose. To date, more than 70 CYP2C9 alleles have been identified. This study was designed to clarify the clinical significance of CYP2C9*non-3 variants to warfarin sensitivity in ...
Dongxu Wang +16 more
doaj +1 more source
Bayesian inference of natural selection from allele frequency time series
, 2016 The advent of accessible ancient DNA technology now allows the direct ascertainment of allele frequencies in ancestral populations, thereby enabling the use of allele frequency time series to detect and estimate natural selection.
Evans, Steven N. +2 more
core +1 more source
Delta-like and gtl2 are reciprocally expressed, differentially methylated linked imprinted genes on mouse chromosome 12 [PDF]
, 2000 The distal portion of mouse chromosome 12 is imprinted. To date, however, Gtl2 is the only imprinted gene identified on chromosome 12. Gtl2 encodes multiple alternatively spliced transcripts with no apparent open reading frame.
Baker, J +8 more
core +1 more source
Distortion of allele frequency distributions provides a test for recent population bottlenecks.
Journal of Heredity, 1998 We use population genetics theory and computer simulations to demonstrate that population bottlenecks cause a characteristic mode-shift distortion in the distribution of allele frequencies at selectively neutral loci.
G. Luikart +3 more
semanticscholar +1 more source
Correction to the pathogenic alternative splicing, caused by the common GNB3 c.825C>T allele, using a novel, antisense morpholino [PDF]
, 2016 The very common GNB3 c.825C>T polymorphism (rs5443), is present in approximately half of all human chromosomes. Significantly the presence of the GNB3 825T allele has been strongly associated, with predisposition to essential hypertension ...
Lester, Douglas H. +2 more
core +3 more sources
The association of 20 short tandem repeat loci of autosomal chromosome with male schizophrenia
Brain and Behavior, 2022 Introduction Schizophrenia's heritability and familial transmission have been known for several decades. The male‐specific Y chromosome plays an important role in schizophrenia.
Chun Yang +3 more
doaj +1 more source
Invasive Allele Spread under Preemptive Competition
, 2005 We study a discrete spatial model for invasive allele spread in which two alleles compete preemptively, initially only the "residents" (weaker competitors) being present.
A. Gandhi +19 more
core +2 more sources
Clinical pharmacology and therapy, 2017 The Human Cytochrome P450 (CYP) Allele Nomenclature Database, a critical resource for the pharmacogenetics and genomics communities, has transitioned to the Pharmacogene Variation (PharmVar) Consortium.
A. Gaedigk +5 more
semanticscholar +1 more source
Methods for Scarless, Selection-Free Generation of Human Cells and Allele-Specific Functional Analysis of Disease-Associated SNPs and Variants of Uncertain Significance. [PDF]
, 2017 With the continued emergence of risk loci from Genome-Wide Association studies and variants of uncertain significance identified from patient sequencing, better methods are required to translate these human genetic findings into improvements in public ...
Carvajal-Carmona, Luis G +4 more
core +4 more sources
Functional polymorphisms in the P2X7 receptor gene are associated with stress fracture injury [PDF]
, 2016 Context: Military recruits and elite athletes are susceptible to stress fracture injuries. Genetic predisposition has been postulated to have a role in their development.
A Gam +50 more
core +1 more source