Genetic susceptibility to feline infectious peritonitis in Birman cats. [PDF]
, 2013 Genetic factors are presumed to influence the incidence of feline infectious peritonitis (FIP), especially among pedigreed cats. However, proof for the existence of such factors has been limited and mainly anecdotal.
Golovko, Lyudmila +5 more
core +1 more source
HLA Class I or Class II and Disease Association: Catch the Difference if You Can [PDF]
, 2017 The association of autoimmune diseases with HLA has been known for many decades. To date, however, the underlying mechanisms have not been fully understood. The recently introduced genome-wide association studies (GWAS) have suggested that several genes
Fiorillo, Mt +3 more
core +2 more sources
Genome-wide association study of nevirapine hypersensitivity in a sub-Saharan African HIV-infected population [PDF]
, 2016 The initial GWAS was funded by the International Serious Adverse Events Consortium (iSAEC). The iSAEC is a non-profit organization dedicated to identifying and validating DNA variants useful in predicting the risk of drug-related serious adverse events ...
Alfirevic, A +23 more
core +6 more sources
Properties of local interactions and their potential value in complementing genome-wide association studies [PDF]
, 2013 Local interactions between neighbouring SNPs are hypothesized to be able to capture variants missing from genome-wide association studies (GWAS) via haplotype effects but have not been thoroughly explored. We have used a new high-throughput analysis tool
A Dehghan +53 more
core +7 more sources
Autoimmune risk variants in ERAP2 are associated with gene-expression levels in thymus [PDF]
Genes & Immunity, 2016 Genetic polymorphisms in the endoplasmic reticulum aminopeptidase (ERAP)1 and ERAP2 genes have been associated with several autoimmune diseases (AIDs) at a genome-wide significance level. In this study, we performed a cis expression quantitative trait locus (eQTL) screen to investigate whether seven fine-mapped AID single-nucleotide polymorphisms (SNPs)
I S M, Gabrielsen +6 more
openaire +2 more sources
The Expanding Landscape of Alternative Splicing Variation in Human Populations. [PDF]
, 2018 Alternative splicing is a tightly regulated biological process by which the number of gene products for any given gene can be greatly expanded. Genomic variants in splicing regulatory sequences can disrupt splicing and cause disease.
Lin, Lan +4 more
core +1 more source
Balancing Selection on a Regulatory Region Exhibiting Ancient Variation That Predates Human–Neandertal Divergence [PDF]
, 2013 Ancient population structure shaping contemporary genetic variation has been recently appreciated and has important implications regarding our understanding of the structure of modern human genomes.
Austermann, Christian +12 more
core +8 more sources
Dominant role of the ERAP1 polymorphism R528K in shaping the HLA-B27 peptidome through differential processing determined by multiple peptide residues [PDF]
, 2016 Copyright © 2015 by the American College of Rheumatology. Objective To characterize the alterations, as well as their mechanisms, induced in the HLA-B27-bound peptidome expressed in live cells by the natural ERAP1 polymorphisms predisposing to ankylosing
Akram +35 more
core +1 more source
A novel class of microRNA-recognition elements that function only within open reading frames. [PDF]
, 2018 MicroRNAs (miRNAs) are well known to target 3' untranslated regions (3' UTRs) in mRNAs, thereby silencing gene expression at the post-transcriptional level.
A Aizer +85 more
core +2 more sources
Endoplasmic reticulum aminopeptidase 1 (ERAP1) polymorphism relevant to inflammatory disease shapes the peptidome of the birdshot chorioretinopathy-associated HLA-A∗29:02 Antigen [PDF]
, 2015 Birdshot chorioretinopathy is a rare ocular inflammation whose genetic association with HLA-A∗29:02 is the highest between a disease and a major histocompatibility complex (MHC) molecule.
Admon, A. +4 more
core +2 more sources