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
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Distinct mechanisms survey the structural integrity of HLA-B*27:05 intracellularly and at the surface [PDF]
, 2018 HLA-B*27:05 is associated with the development of autoimmune spondyloarthropathies, but the precise causal relationship between the MHC haplotype and disease pathogenesis is yet to be elucidated. Studies focusing on the structure and cellular trafficking
Abualrous, Esam Tolba +3 more
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BMC Cancer, 2020 Background Antigen-processing machinery molecules play crucial roles in infectious diseases and cancers. Studies have shown that polymorphisms in endoplasmic reticulum aminopeptidase (ERAP) genes can influence the enzymatic activity of ERAP proteins and ...
Chuanyin Li +9 more
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TAPBPR: a new player in the MHC class I presentation pathway. [PDF]
, 2015 In order to provide specificity for T cell responses against pathogens and tumours, major histocompatibility complex (MHC) class I molecules present high-affinity peptides at the cell surface to T cells.
Abe +106 more
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A cautionary note on the impact of protocol changes for Genome-Wide Association SNP x SNP Interaction studies: an example on ankylosing spondylitis [PDF]
, 2015 Genome-wide association interaction (GWAI) studies have increased in popularity. Yet to date, no standard protocol exists. In practice, any GWAI workflow involves making choices about quality control strategy, SNP filtering, linkage disequilibrium (LD)
Bessonov, Kyrylo +2 more
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Scientific Reports, 2021 The clinical spectrum of hypertensive disorders of pregnancy (HDP) is determined by the interplay between environmental and genetic factors, most of which remains unknown.
Leonardo Capistrano Ferreira +6 more
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To Be or Not to Be: The Case of Endoplasmic Reticulum Aminopeptidase 2
Frontiers in Immunology, 2022 To be, or not to be, that is the question. (William Shakespeare, Hamlet)Endoplasmic reticulum aminopeptidases 1 and 2 (ERAP1 and ERAP2, respectively) play a role in trimming peptides that are too long to be bound and presented by class I HLA (HLA-I ...
Piotr Kuśnierczyk
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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
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Cell Reports, 2017 Herein, we demonstrate that HCMV miR-UL112-5p targets ERAP1, thereby inhibiting the processing and presentation of the HCMV pp65495-503 peptide to specific CTLs. In addition, we show that the rs17481334 G variant, naturally occurring in the ERAP1 3′ UTR,
Paolo Romania +22 more
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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
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