Varaico: Literature-Extracted Genetic Variants

Gene:ITGAM
Variant:p.R77H
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ITGAM

NM_000632.4:p.R77H

Associated Papers

How loss-of-function mutations in IFIH1 contribute to infectious and/or inflammatory disease - a systematic review.

Ince I et al.

Journal of Translational Autoimmunity, 2026

Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease.

Rubino E et al.

Alzheimer's Research & Therapy, 2025

39810256 (PubMed )
Supplement: 13195_2024_1661_MOESM2_ESM.xlsx › Suppl._Table_2

CD11b suppresses TLR7-driven inflammatory signaling to protect against lupus nephritis.

Li X et al.

Biorxiv : the Preprint Server for Biology, 2024

Identifying the personalized driver gene sets maximally contributing to abnormality of transcriptome phenotype in glioblastoma multiforme individuals.

Xu J et al.

Molecular Oncology, 2023

37491836 (PubMed )
Supplement: MOL2-17-2472-s001.pdf

ITGAM rs1143679 Variant in Systemic Lupus Erythematosus Is Associated with Increased Serum Calcification Propensity.

Halfon M et al.

Genes, 2023

Integrin Subunit Alpha M, ITGAM Nonsynonymous SNP Is Associated with Knee Osteoarthritis among Thais: A Case-Control Study.

Intharanut K et al.

Current Issues in Molecular Biology, 2023

Genetic landscape of human neutrophil antigen variants in India from population-scale genomes.

Rophina M et al.

Hla, 2023

A physical wiring diagram for the human immune system.

Shilts J et al.

Nature, 2022

35922511 (PubMed )
Supplement: 41586_2022_5028_MOESM5_ESM.pdf

Loss of CD11b Accelerates Lupus Nephritis in Lyn-Deficient Mice Without Disrupting Glomerular Leukocyte Trafficking.

Gottschalk TA et al.

Frontiers in Immunology, 2022

Homozygous variant p. Arg90His in NCF1 is associated with early-onset Interferonopathy: a case report.

Schnappauf O et al.

Pediatric Rheumatology Online Journal, 2021

33892719 (PubMed )
Supplement: 12969_2021_536_MOESM1_ESM.docx

Clinical features and expression of type I interferon-inducible genes in systemic lupus erythematosus patients harboring rs1143679 polymorphism in China: a single-center, retrospective study.

Xu W et al.

Clinical Rheumatology, 2021

The Post-GWAS Era: How to Validate the Contribution of Gene Variants in Lupus.

Fike AJ et al.

Current Rheumatology Reports, 2019

MiR-21 binding site SNP within ITGAM associated with psoriasis susceptibility in women.

Hruska P et al.

Plos One, 2019

ITGAM is a risk factor to systemic lupus erythematosus and possibly a protection factor to rheumatoid arthritis in patients from Mexico.

Ramírez-Bello J et al.

Plos One, 2019

Cis interaction between sialylated FcγRIIA and the αI-domain of Mac-1 limits antibody-mediated neutrophil recruitment.

Saggu G et al.

Nature Communications, 2018

Modulation of human Th17 cell responses through complement receptor 3 (CD11 b/CD18) ligation on monocyte-derived dendritic cells.

Nowatzky J et al.

Journal of Autoimmunity, 2018

Association of the CD11b rs1143679 polymorphism with systemic lupus erythematosus in the Han Chinese population.

Li C et al.

The Journal of International Medical Research, 2018

CD11b Activity Modulates Pathogenesis of Lupus Nephritis.

Khan SQ et al.

Frontiers in Medicine, 2018

Genetics of human lupus nephritis.

Iwamoto T et al.

Clinical Immunology (orlando, Fla.), 2017

Updates in Lupus Genetics.

Deng Y et al.

Current Rheumatology Reports, 2017

Brief Report: Deficiency of Complement 1r Subcomponent in Early-Onset Systemic Lupus Erythematosus: The Role of Disease-Modifying Alleles in a Monogenic Disease.

Demirkaya E et al.

Arthritis & Rheumatology (hoboken, N.j.), 2017

CD11b activation suppresses TLR-dependent inflammation and autoimmunity in systemic lupus erythematosus.

Faridi MH et al.

The Journal of Clinical Investigation, 2017

Confirmation of five novel susceptibility loci for systemic lupus erythematosus (SLE) and integrated network analysis of 82 SLE susceptibility loci.

Molineros JE et al.

Human Molecular Genetics, 2017

The Systemic Lupus Erythematosus-Associated Single Nucleotide Polymorphism rs1143678 in Integrin αM Cytoplasmic Tail Generates a 14-3-3ζ Binding Site That Is Proinflammatory.

Ong LT et al.

Journal of Immunology (baltimore, Md. : 1950), 2017

The genetic basis of systemic lupus erythematosus: What are the risk factors and what have we learned.

Teruel M et al.

Journal of Autoimmunity, 2016

The complement receptor 3 (CD11b/CD18) agonist Leukadherin-1 suppresses human innate inflammatory signalling.

Roberts AL et al.

Clinical and Experimental Immunology, 2016

Complement gene variants in relation to autoantibodies to beta cell specific antigens and type 1 diabetes in the TEDDY Study.

Törn C et al.

Scientific Reports, 2016

Genetic association study of systemic lupus erythematosus and disease subphenotypes in European populations.

Ruiz-Larrañaga O et al.

Clinical Rheumatology, 2016

Genetic Variants That Are Associated with Neuropsychiatric Systemic Lupus Erythematosus.

Ho RC et al.

The Journal of Rheumatology, 2016

The crossroads of autoimmunity and immunodeficiency: Lessons from polygenic traits and monogenic defects.

Grimbacher B et al.

The Journal of Allergy and Clinical Immunology, 2016

Serological and Genetic Evidence for Altered Complement System Functionality in Systemic Lupus Erythematosus: Findings of the GAPAID Consortium.

Prechl J et al.

Plos One, 2016

Genetic Variation in Pattern Recognition Receptors and Adaptor Proteins Associated With Development of Chronic Q Fever.

Schoffelen T et al.

The Journal of Infectious Diseases, 2015

Genetics of Lupus Nephritis: Clinical Implications.

Munroe ME et al.

Seminars in Nephrology, 2015

Association between the functional ITGAM rs1143679 G/A polymorphism and systemic lupus erythematosus/lupus nephritis or rheumatoid arthritis: an update meta-analysis.

Lee YH et al.

Rheumatology International, 2015

A Lupus-Associated Mac-1 Variant Has Defects in Integrin Allostery and Interaction with Ligands under Force.

Rosetti F et al.

Cell Reports, 2015

Advances in lupus genetics and epigenetics.

Deng Y et al.

Current Opinion in Rheumatology, 2014

Chance, genetics, and the heterogeneity of disease and pathogenesis in systemic lupus erythematosus.

Marion TN et al.

Seminars in Immunopathology, 2014

Combined protein- and nucleic acid-level effects of rs1143679 (R77H), a lupus-predisposing variant within ITGAM.

Maiti AK et al.

Human Molecular Genetics, 2014

Resequencing the susceptibility gene, ITGAM, identifies two functionally deleterious rare variants in systemic lupus erythematosus cases.

Roberts AL et al.

Arthritis Research & Therapy, 2014

The variant of CD11b, rs1143679 within ITGAM, is associated with systemic lupus erythematosus and clinical manifestations in Brazilian patients.

Toller-Kawahisa JE et al.

Human Immunology, 2014

Multiple lupus-associated ITGAM variants alter Mac-1 functions on neutrophils.

Zhou Y et al.

Arthritis and Rheumatism, 2013

Gene-function studies in systemic lupus erythematosus.

Crispín JC et al.

Nature Reviews. Rheumatology, 2013

The CD11b-integrin (ITGAM) and systemic lupus erythematosus.

Fagerholm SC et al.

Lupus, 2013

Recent insights into the genetic basis of systemic lupus erythematosus.

Rullo OJ et al.

Annals of the Rheumatic Diseases, 2013

Phagocytosis is the main CR3-mediated function affected by the lupus-associated variant of CD11b in human myeloid cells.

Fossati-Jimack L et al.

Plos One, 2013

Integrin CD11b negatively regulates BCR signalling to maintain autoreactive B cell tolerance.

Ding C et al.

Nature Communications, 2013

The rs1143679 (R77H) lupus associated variant of ITGAM (CD11b) impairs complement receptor 3 mediated functions in human monocytes.

Rhodes B et al.

Annals of the Rheumatic Diseases, 2012

Variation in the ICAM1-ICAM4-ICAM5 locus is associated with systemic lupus erythematosus susceptibility in multiple ancestries.

Kim K et al.

Annals of the Rheumatic Diseases, 2012

Human lupus serum induces neutrophil-mediated organ damage in mice that is enabled by Mac-1 deficiency.

Rosetti F et al.

Journal of Immunology (baltimore, Md. : 1950), 2012

Genetic susceptibility to lupus: the biological basis of genetic risk found in B cell signaling pathways.

Vaughn SE et al.

Journal of Leukocyte Biology, 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."