Results 41 to 50 of about 2,874 (176)

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, Paladini, F, Sorrentino, R., Tedeschi, V   +3 more
core   +2 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, M K, Viken, S S, Amundsen, H, Helgeland, K, Holm, S T, Flåm, B A, Lie   +6 more
openaire   +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., Alvarez-Navarro, C., Barnea, E., López De Castro, J.A., Martín-Esteban, A.   +4 more
core   +2 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, A Gyenesei, A Gyenesei, A Iida, AP Boyle, AT Kraja, Attila Gyenesei, C Sabatti, C Turnbull, Chris S. Haley, CM Wang, Colin A. M. Semple, D Haig, D Levy, DL Pearson, EB Schroeder, ES Snitkin, FW Tsui, G Hemani, HJ Cordell, J Becker, J Kettunen, JC Chambers, K Wang, Kai Wang, L Dumitrescu, L Ma, LA Hindorff, LS Yung, M Emily, M Ueki, MA Schaub, MB Gerstein, MI McCarthy, ML Summar, MS Breen, N Haroon, N Soranzo, O Zuk, P Pulimeno, RP Middelberg, SD Turner, T Becker, T Lappalainen, T Schupbach, W Huang, W Wei, W Wei, Wenhua Wei, WJ Gauderman, Y Kamatani, Y Liu, YS Aulchenko, YS Aulchenko   +53 more
core   +7 more sources

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, A Helwak, A Jakymiw, A Lal, AE Pasquinelli, AJ Giraldez, Alexander Dobin, AM Duursma, AR Buskirk, AR Quinlan, B Langmead, Bing Zhou, CJ Decker, CJ Shoemaker, CJ Woolstenhulme, CP Petersen, Dehe Wang, DP Bartel, DT Humphreys, E Huntzinger, EL Nostrand Van, GB Loeb, Guangqiao Liu, H Guo, HA Meijer, HO Iwakawa, I Behm-Ansmant, I Elcheva, J Hausser, J Liu, J Liu, JH Kim, Jie Zhou, JJ Forman, JP Broughton, K Seggerson, KA O’Donnell, Kai Zhang, L Wu, Ligang Wu, M Hafner, M Kouwenhove van, M Rehmsmeier, MD Robinson, MK Doma, ML Donnelly, N Rajewsky, NT Schirle, PA Maroney, Qian Zhao, R Ishimura, R Ishimura, R Parker, Ran Cao, RS Pillai, S Bagga, S Djuranovic, S Grosswendt, S Gu, S Jonas, S Nottrott, S Takagi, SN Bhattacharyya, SW Chi, SW Eichhorn, Timothy Nilsen, TT Tat, V Presnyak, W Filipowicz, Wen Ruan, X Adiconis, Xiang-Dong Fu, Xiaorong Zhang, Y Ishigaki, Y Liao, Y Tay, Y Wang, Y Xue, Y Zhao, Ya Zhao, Yan Qin, Yu Zhou, Yuanchao Xue, Z Cai, Zhiqiang Cai, Zonggui Chen   +85 more
core   +2 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, Alvarez-Navarro, Andres, Brown, Burton, Calvo, Chang, Chen, Constantino, Cortes, Ellis, Evans, Evnouchidou, Evnouchidou, Garcia-Medel, Garcia-Medel, Garcia-Medel, Goto, Haroon, Harvey, Hearn, James, Kirino, Kochan, Manz, Marcilla, Martin-Esteban, Nguyen, Paradela, Paradela, Reeves, Saric, Seregin, Serwold, Strange, Zemmour   +35 more
core   +1 more source

Identification of Structural Variation in Chimpanzees Using Optical Mapping and Nanopore Sequencing. [PDF]

, 2020
Recent efforts to comprehensively characterize great ape genetic diversity using short-read sequencing and single-nucleotide variants have led to important discoveries related to selection within species, demographic history, and lineage-specific traits.
Andrés, Aida M, Dennis, Megan Y, Kaya, Gulhan, Mastoras, Mira, Sahasrabudhe, Ruta, Schmidt, Joshua M, Shew, Colin, Soto, Daniela C   +7 more
core   +3 more sources

Association of an ERAP1 ERAP2 haplotype with familial ankylosing spondylitis

Annals of the Rheumatic Diseases, 2010
To assess whether there is excess transmission of alleles from the ERAP1 ERAP2 locus in families with ankylosing spondylitis (AS).199 multiplex families with AS with four non-synonymous single nucleotide polymorphisms (SNPs), three in the endoplasmic reticulum aminopeptidase 1 (ERAP1) gene (rs27044, rs10050860 and rs30187) and one in the endoplasmic ...
Florence W L, Tsui, Nigil, Haroon, John D, Reveille, Proton, Rahman, Basil, Chiu, Hing Wo, Tsui, Robert D, Inman   +6 more
openaire   +3 more sources

Bimodal distribution of RNA expression levels in human skeletal muscle tissue [PDF]

, 2011
Background Many human diseases and phenotypes are related to RNA expression, levels of which are influenced by a wide spectrum of genetic and exposure-related factors.
Clinton C Mason, Robert L Hanson, Vicky Ossowski, Li Bian, Leslie J Baier, Jonathan Krakoff, Clifton Bogardus   +6 more
core   +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, Pan, Zhicheng, Park, Eddie, Xing, Yi, Zhang, Zijun   +4 more
core   +1 more source