Genetic variation in low-to-medium-affinity Fcγ receptors: functional consequences, disease associations, and opportunities for personalized medicine

SQ Nagelkerke, DE Schmidt, M De Haas… - Frontiers in …, 2019 - frontiersin.org
Fc-gamma receptors (FcγR) are the cellular receptors for Immunoglobulin G (IgG). Upon
binding of complexed IgG, FcγRs can trigger various cellular immune effector functions …

Copy number variation disorders

TH Shaikh - Current genetic medicine reports, 2017 - Springer
Abstract Purpose of Review Copy number variation (CNV) disorders arise from the dosage
imbalance of one or more gene (s), resulting from deletions, duplications, or other genomic …

Protein-altering variants at copy number-variable regions influence diverse human phenotypes

MLA Hujoel, RE Handsaker, MA Sherman… - Nature Genetics, 2024 - nature.com
Copy number variants (CNVs) are among the largest genetic variants, yet CNVs have not
been effectively ascertained in most genetic association studies. Here we ascertained …

Polymorphisms of immunoglobulin receptors and the effects on clinical outcome in cancer immunotherapy and other immune diseases: a general review

T Kaifu, A Nakamura - International Immunology, 2017 - academic.oup.com
Receptors for the Fc domain of immunoglobulins [Fc receptors (FcRs)] are essential for the
maintenance of antibody-mediated immune responses. FcRs consist of activating-and …

Identification of common differentially expressed genes and potential therapeutic targets in ulcerative colitis and rheumatoid arthritis

Y Chen, H Li, L Lai, Q Feng, J Shen - Frontiers in Genetics, 2020 - frontiersin.org
Ulcerative colitis (UC) and rheumatoid arthritis (RA) are immune-mediated inflammatory
diseases (IMIDs) with similar symptoms and common genomics. However, the relationship …

Genetic variations in low‐to‐medium‐affinity Fcγ receptors and autoimmune neutropenia in early childhood in a Danish cohort

K Kløve‐Mogensen, R Steffensen… - International Journal …, 2023 - Wiley Online Library
Autoimmune neutropenia (AIN) in early childhood is caused by autoantibodies directed
against antigens on the neutrophil membrane and is a frequent cause of neutropenia in …

FCGR Genetic Variation in Two Populations From Ecuador Highlands—Extensive Copy-Number Variation, Distinctive Distribution of Functional Polymorphisms, and a Novel …

M Moraru, A Perez-Portilla, K Al-Akioui Sanz… - Frontiers in …, 2021 - frontiersin.org
Fcγ receptors (FcγR), cell-surface glycoproteins that bind antigen-IgG complexes, control
both humoral and cellular immune responses. The FCGR locus on chromosome 1q23. 3 …

An update evolving view of copy number variations in autoimmune diseases

R Song, C Gao, J Zhao, J Zhang - Frontiers in Genetics, 2022 - frontiersin.org
Autoimmune diseases (AIDs) usually share possible common mechanisms, ie, a defect in
the immune tolerance exists due to diverse causes from central and peripheral tolerance …

[HTML][HTML] Comparison of real-time quantitative PCR and two digital PCR platforms to detect copy number variation in FCGR3B

K Kløve-Mogensen, SK Terp, R Steffensen - Journal of Immunological …, 2024 - Elsevier
The importance of structural genetic variants, such as copy number variations (CNVs), in
modulating human disease is being increasingly recognized. Several clinical conditions …

Copy number variation in the susceptibility to systemic lupus erythematosus

FB Barbosa, M Simioni, CEV Wiezel, FR Torres… - PLoS …, 2018 - journals.plos.org
Systemic lupus erythematosus (SLE) is an autoimmune disease with a strong genetic
component and etiology characterized by chronic inflammation and autoantibody …