Varaico: Literature-Extracted Genetic Variants

Gene:ERAP1
Variant:p.D575N
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ERAP1

NM_001040458.3:p.D575N

Associated Papers

The Genetic Background of Ankylosing Spondylitis Reveals a Distinct Overlap with Autoimmune Diseases: A Systematic Review.

Zormpa T et al.

Journal of Clinical Medicine, 2025

Defining a genetic background for bamboo spine and axial spondyloarthritis.

Özkaya ŞÇ et al.

Joint Bone Spine, 2025

Endogamy and high prevalence of deleterious mutations in India: evidence from strong founder events.

Machha P et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025

ERAP1 Gene Variants and Haplotypes Associated With Psoriasis Vulgaris of Han Chinese in Inner Mongolia.

Li X et al.

Molecular Genetics & Genomic Medicine, 2024

The Role of Aminopeptidase ERAP1 in Human Pathology-A Review.

Țiburcă L et al.

Current Issues in Molecular Biology, 2024

A large meta-analysis identifies genes associated with anterior uveitis.

Gelfman S et al.

Nature Communications, 2023

The association of Behçet's syndrome with HLA-B51 as understood in 2021.

Takeno M

Current Opinion in Rheumatology, 2022

Aberrant antigen processing and presentation: Key pathogenic factors leading to immune activation in Ankylosing spondylitis.

Nakamura A et al.

Seminars in Immunopathology, 2021

The association of HLA-C and ERAP1 polymorphisms in early and late onset psoriasis and psoriatic arthritis patients of Hungary.

Képíró L et al.

Postepy Dermatologii I Alergologii, 2021

Interaction between ERAP Alleles and HLA Class I Types Support a Role of Antigen Presentation in Hodgkin Lymphoma Development.

Jiang P et al.

Cancers, 2021

33499248 (PubMed )
Supplement: cancers-13-00414-s001.pdf

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s005.xlsx › Sheet1

Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.

Pongor LS et al.

Scientific Reports, 2020

32873813 (PubMed )
Supplement: 41598_2020_71382_MOESM6_ESM.xlsx › Hypermutating

Analysis of 47 Non-MHC Ankylosing Spondylitis Susceptibility Loci Regarding Associated Variants across Whites and Han Chinese.

Zheng X et al.

The Journal of Rheumatology, 2020

ERAP1 polymorphisms interactions and their association with Behçet's disease susceptibly: Application of Model-Based Multifactor Dimension Reduction Algorithm (MB-MDR).

Riahi P et al.

Plos One, 2020

Distribution of rs17482078 and rs27044 ERAP1 polymorphisms in a group of Italian Behçet's syndrome patients: a preliminary case-control study.

Padula MC et al.

Internal and Emergency Medicine, 2019

HPV Epitope Processing Differences Correlate with ERAP1 Allotype and Extent of CD8+ T-cell Tumor Infiltration in OPSCC.

Reeves E et al.

Cancer Immunology Research, 2019

Genotyping of Italian patients with Behçet syndrome identified two novel ERAP1 polymorphisms using sequencing-based approach.

Padula MC et al.

Human Immunology, 2019

Epistatic Interaction of ERAP1 and HLA-B*51 in Iranian Patients with Behçet's Disease.

Mahmoudi M et al.

Scientific Reports, 2018

The role of polymorphic ERAP1 in autoinflammatory disease.

Reeves E et al.

Bioscience Reports, 2018

Ranking the Contribution of Ankylosing Spondylitis-associated Endoplasmic Reticulum Aminopeptidase 1 (ERAP1) Polymorphisms to Shaping the HLA-B*27 Peptidome.

Sanz-Bravo A et al.

Molecular & Cellular Proteomics : Mcp, 2018

Genetic Variants in ERAP1 and ERAP2 Associated With Immune-Mediated Diseases Influence Protein Expression and the Isoform Profile.

Hanson AL et al.

Arthritis & Rheumatology (hoboken, N.j.), 2018

Immune Regulatory Genes Are Major Genetic Factors to Behcet Disease: Systematic Review.

Deng Y et al.

The Open Rheumatology Journal, 2018

How ERAP1 and ERAP2 Shape the Peptidomes of Disease-Associated MHC-I Proteins.

López de Castro JA

Frontiers in Immunology, 2018

Bioinformatics analysis of genetic variants of endoplasmic reticulum aminopeptidase 1 in ankylosing spondylitis.

Wang X et al.

Molecular Medicine Reports, 2017

The Behçet's disease-associated variant of the aminopeptidase ERAP1 shapes a low-affinity HLA-B*51 peptidome by differential subpeptidome processing.

Guasp P et al.

The Journal of Biological Chemistry, 2017

ERAP1 association with ankylosing spondylitis is attributable to common genotypes rather than rare haplotype combinations.

Roberts AR et al.

Proceedings of the National Academy of Sciences of the United States of America, 2017

A single endoplasmic reticulum aminopeptidase-1 protein allotype is a strong risk factor for Behçet's disease in HLA-B*51 carriers.

Takeuchi M et al.

Annals of the Rheumatic Diseases, 2016

Molecular and pathogenic effects of endoplasmic reticulum aminopeptidases ERAP1 and ERAP2 in MHC-I-associated inflammatory disorders: Towards a unifying view.

López de Castro JA et al.

Molecular Immunology, 2016

ERAP1 reduces accumulation of aberrant and disulfide-linked forms of HLA-B27 on the cell surface.

Tran TM et al.

Molecular Immunology, 2016

Brief report: association of CCR1, KLRC4, IL12A-AS1, STAT4, and ERAP1 With Behçet's disease in Iranians.

Sousa I et al.

Arthritis & Rheumatology (hoboken, N.j.), 2015

Endoplasmic Reticulum Aminopeptidase 1 (ERAP1) Polymorphism Relevant to Inflammatory Disease Shapes the Peptidome of the Birdshot Chorioretinopathy-Associated HLA-A*29:02 Antigen.

Alvarez-Navarro C et al.

Molecular & Cellular Proteomics : Mcp, 2015

Endoplasmic reticulum-associated amino-peptidase 1 and rheumatic disease: genetics.

Ombrello MJ et al.

Current Opinion in Rheumatology, 2015

Endoplasmic reticulum aminopeptidase 1 and rheumatic disease: functional variation.

Tran TM et al.

Current Opinion in Rheumatology, 2015

ERAP1 variants are associated with ankylosing spondylitis in East Asian population: a new Chinese case-control study and meta-analysis of published series.

Chen C et al.

International Journal of Immunogenetics, 2015

Dominant role of the ERAP1 polymorphism R528K in shaping the HLA-B27 Peptidome through differential processing determined by multiple peptide residues.

Sanz-Bravo A et al.

Arthritis & Rheumatology (hoboken, N.j.), 2015

Genetic associations and functional characterization of M1 aminopeptidases and immune-mediated diseases.

Agrawal N et al.

Genes and Immunity, 2014

Combined effects of ankylosing spondylitis-associated ERAP1 polymorphisms outside the catalytic and peptide-binding sites on the processing of natural HLA-B27 ligands.

Martín-Esteban A et al.

The Journal of Biological Chemistry, 2014

ERAP1 structure, function and pathogenetic role in ankylosing spondylitis and other MHC-associated diseases.

Alvarez-Navarro C et al.

Molecular Immunology, 2014

Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Szeto CY et al.

Febs Open Bio, 2014

24490137 (PubMed )
Supplement: mmc5.xlsx › coding

Epistatic interaction of ERAP1 and HLA-B in Behçet disease: a replication study in the Spanish population.

Conde-Jaldón M et al.

Plos One, 2014

A role for naturally occurring alleles of endoplasmic reticulum aminopeptidases in tumor immunity and cancer pre-disposition.

Stratikos E et al.

Frontiers in Oncology, 2014

Endoplasmic reticulum aminopeptidase-1 alleles associated with increased risk of ankylosing spondylitis reduce HLA-B27 mediated presentation of multiple antigens.

Seregin SS et al.

Autoimmunity, 2013

Protective effect of an ERAP1 haplotype in ankylosing spondylitis: investigating non-MHC genes in HLA-B27-positive individuals.

Bettencourt BF et al.

Rheumatology (oxford, England), 2013

Functional variants of ERAP1 gene are associated with HLA-B27 positive spondyloarthritis.

Cherciu M et al.

Tissue Antigens, 2013

Naturally occurring ERAP1 haplotypes encode functionally distinct alleles with fine substrate specificity.

Reeves E et al.

Journal of Immunology (baltimore, Md. : 1950), 2013

ERAP1 in ankylosing spondylitis: genetics, biology and pathogenetic role.

Alvarez-Navarro C et al.

Current Opinion in Rheumatology, 2013

Investigating the genetic association between ERAP1 and spondyloarthritis.

Kadi A et al.

Annals of the Rheumatic Diseases, 2013

Genome-wide association analysis identifies new susceptibility loci for Behçet's disease and epistasis between HLA-B*51 and ERAP1.

Kirino Y et al.

Nature Genetics, 2013

Ankylosing spondylitis: from cells to genes.

Zambrano-Zaragoza JF et al.

International Journal of Inflammation, 2013

Functional interaction of the ankylosing spondylitis-associated endoplasmic reticulum aminopeptidase 1 polymorphism and HLA-B27 in vivo.

García-Medel N et al.

Molecular & Cellular Proteomics : Mcp, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."