Frequency of null allele of Human Leukocyte Antigen-G (HLA-G) locus in subjects to recurrent miscarriage [PDF]
Iranian Journal of Reproductive Medicine, 2016 Background: Human leukocyte antigen-G (HLA-G) is a non-classical class I molecule highly expressed by extravillous cytotrophoblast cells. Due to a single base pair deletion, its function can be compensated by other isoforms.
Nazila Alizadeh +6 more
doaj +2 more sources
Frontiers in Immunology, 2023 Pemphigus vulgaris (PV) is an acquired autoimmune blistering disease characterized by the production of autoantibodies targeting desmosomal cadherins, primarily desmoglein 1 and desmoglein 3, leading to acantholysis. The etiology of PV is multifactorial,
Ines Lakoš Jukić +4 more
doaj +1 more source
A genetic map of human metabolism across the allele frequency spectrum. [PDF]
Nat GenetZoodsma M +10 more
europepmc +2 more sources
Non-equilibrium theory of the allele frequency spectrum [PDF]
, 2006 A forward diffusion equation describing the evolution of the allele frequency spectrum is presented. The influx of mutations is accounted for by imposing a suitable boundary condition.
Evans, Steven N. +2 more
core +2 more sources
Heterogenous Distribution of MTHFR Gene Variants among Mestizos and Diverse Amerindian Groups from Mexico. [PDF]
PLoS ONE, 2016 Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in folate metabolism. Folate deficiency has been related to several conditions, including neural tube defects (NTDs) and cardiovascular diseases.
Cecilia Contreras-Cubas +15 more
doaj +1 more source
Selection Mapping Identifies Loci Underpinning Autumn Dormancy in Alfalfa (Medicago sativa). [PDF]
, 2018 Autumn dormancy in alfalfa (Medicago sativa) is associated with agronomically important traits including regrowth rate, maturity, and winter survival. Historical recurrent selection experiments have been able to manipulate the dormancy response.
Brummer, E Charles +3 more
core +3 more sources
Gene Frequency of ABO Blood Group and Rh Factor Allele among the People of Sylhet, Bangladesh. [PDF]
Journal of EpigeneticsKnowledge of blood grouping is very important, especially for safer blood transfusions. The blood group and Rh factor of an individual is determined by the presence or absence of different antigens and Rh factor on the surface of the RBC, respectively ...
Sharmin Akter +3 more
doaj +1 more source
Profiling allele-specific gene expression in brains from individuals with autism spectrum disorder reveals preferential minor allele usage. [PDF]
, 2019 One fundamental but understudied mechanism of gene regulation in disease is allele-specific expression (ASE), the preferential expression of one allele.
A Chess +68 more
core +1 more source
Multiple Haplotype Reconstruction from Allele Frequency Data [PDF]
Nature Computational Science, 2020 AbstractSince haplotype information is of widespread interest in biomedical applications, effort has been put into their reconstruction. Here, we propose a new, computationally efficient method, calledhaploSep, that is able to accurately infer major haplotypes and their frequencies just from multiple samples of allele frequency data. Our approach seems
Marta Pelizzola +4 more
openaire +5 more sources
Warmblood fragile foal syndrome type 1 mutation (PLOD1 c.2032G>A) is not associated with catastrophic breakdown and has a low allele frequency in the Thoroughbred breed. [PDF]
, 2020 BackgroundCatastrophic fractures are among the most common cause of fatalities in racehorses. Several factors, including genetics, likely contribute to increased risk for fatal injuries.
Arthur, R +6 more
core +1 more source