Varaico: Literature-Extracted Genetic Variants

Gene:CFH
Variant:p.R1215Q
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CFH

NM_000186.4:p.R1215Q

Associated Papers

Comprehensive genetic analysis and genotype-phenotype correlations in pediatric patients with atypical hemolytic uremic syndrome.

Ni J et al.

Pediatric Nephrology (berlin, Germany), 2025

Approach to the prevention of atypical hemolytic uremic syndrome recurrence using eculizumab in a pregnant kidney transplant recipient with complement factor H gene mutation: a case report and literature review.

Zahran S et al.

Journal of Nephrology, 2025

The human factor H protein family - an update.

Sándor N et al.

Frontiers in Immunology, 2024

38410512 (PubMed )
Supplement: DataSheet_1.pdf

Atypical hemolytic uremic syndrome in the era of terminal complement inhibition: an observational cohort study.

Brocklebank V et al.

Blood, 2023

37369098 (PubMed )
Supplement: BLOOD_BLD-2022-018833R2-mmc1.pdf

Variants in complement genes are uncommon in patients with anti-factor H autoantibody-associated atypical hemolytic uremic syndrome.

Khandelwal P et al.

Pediatric Nephrology (berlin, Germany), 2023

Complement gene variant effect on relapse of complement-mediated thrombotic microangiopathy after eculizumab cessation.

Acosta-Medina AA et al.

Blood Advances, 2023

35533258 (PubMed )
Supplement: BLOODA_ADV-2021-006416-mmc1.pdf

Early Eculizumab Withdrawal in Patients With Atypical Hemolytic Uremic Syndrome in Native Kidneys Is Safe and Cost-Effective: Results of the CUREiHUS Study.

Bouwmeester RN et al.

Kidney International Reports, 2023

36644349 (PubMed )
Supplement: mmc1.pdf

Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification.

Martín Merinero H et al.

Blood, 2021

The long-acting C5 inhibitor, ravulizumab, is efficacious and safe in pediatric patients with atypical hemolytic uremic syndrome previously treated with eculizumab.

Tanaka K et al.

Pediatric Nephrology (berlin, Germany), 2021

Clinical and Genetic Characteristics of Atypical Hemolytic Uremic Syndrome in Children: A Chinese Cohort Study.

Wu D et al.

Nephron, 2021

Complement Factor H Gene Variant in a Patient with Thrombotic Microangiopathy on a Mixed Clinical Background.

Iwafuchi Y et al.

Case Reports in Nephrology, 2021

Sex Differences in Clinical Presentation and Outcomes among Patients with Complement-Gene-Variant-Mediated Thrombotic Microangiopathy.

Aigner C et al.

Journal of Clinical Medicine, 2020

32244370 (PubMed )
Supplement: jcm-09-00964-s001.pdf

Factor H Autoantibodies and Complement-Mediated Diseases.

Zhang Y et al.

Frontiers in Immunology, 2020

Genetic Analysis of 400 Patients Refines Understanding and Implicates a New Gene in Atypical Hemolytic Uremic Syndrome.

Bu F et al.

Journal of the American Society of Nephrology : Jasn, 2018

Clinical characteristics and genetic backgrounds of Japanese patients with atypical hemolytic uremic syndrome.

Fujisawa M et al.

Clinical and Experimental Nephrology, 2018

Genotype-phenotype correlations of low-frequency variants in the complement system in renal disease and age-related macular degeneration.

Geerlings MJ et al.

Clinical Genetics, 2018

29888403 (PubMed )
Supplement: CGE-94-330-s001.zip › Appendix_S1 › Table_S3.xlsx › CFH

Targeted exome sequencing in anti-factor H antibody negative HUS reveals multiple variations.

Thergaonkar RW et al.

Clinical and Experimental Nephrology, 2018

Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (CFH) gene family.

Cantsilieris S et al.

Proceedings of the National Academy of Sciences of the United States of America, 2018

Kidney Transplantation in Patients with Atypical Hemolytic Uremic Syndrome due to Complement Factor H Deficiency: Impact of Liver Transplantation.

Kim S et al.

Journal of Korean Medical Science, 2018

Atypical Hemolytic Uremic Syndrome Associated with Complement Factor H Mutation and IgA Nephropathy: A Case Report Successfully Treated with Eculizumab.

Nakamura H et al.

Nephron, 2018

FHR-1 Binds to C-Reactive Protein and Enhances Rather than Inhibits Complement Activation.

Csincsi ÁI et al.

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

Moss-Produced, Glycosylation-Optimized Human Factor H for Therapeutic Application in Complement Disorders.

Michelfelder S et al.

Journal of the American Society of Nephrology : Jasn, 2017

Turkish pediatric atypical hemolytic uremic syndrome registry: initial analysis of 146 patients.

Besbas N et al.

Bmc Nephrology, 2017

Complement Activation Induces Neutrophil Adhesion and Neutrophil-Platelet Aggregate Formation on Vascular Endothelial Cells.

Riedl M et al.

Kidney International Reports, 2017

Analysis of Linear Antibody Epitopes on Factor H and CFHR1 Using Sera of Patients with Autoimmune Atypical Hemolytic Uremic Syndrome.

Trojnár E et al.

Frontiers in Immunology, 2017

Disturbed sialic acid recognition on endothelial cells and platelets in complement attack causes atypical hemolytic uremic syndrome.

Hyvärinen S et al.

Blood, 2016

Eculizumab for the treatment of atypical hemolytic uremic syndrome recurrence after kidney transplantation associated with complement factor H mutations: a case report with a 5-year follow-up.

Okumi M et al.

International Urology and Nephrology, 2016

Mutations in Complement Factor H Impair Alternative Pathway Regulation on Mouse Glomerular Endothelial Cells in Vitro.

Loeven MA et al.

The Journal of Biological Chemistry, 2016

Genetic analysis and functional characterization of novel mutations in a series of patients with atypical hemolytic uremic syndrome.

Szarvas N et al.

Molecular Immunology, 2016

Atypical hemolytic uremic syndrome: Korean pediatric series.

Lee JM et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2015

Functional characterization of two novel non-synonymous alterations in CD46 and a Q950H change in factor H found in atypical hemolytic uremic syndrome patients.

Mohlin FC et al.

Molecular Immunology, 2015

The major autoantibody epitope on factor H in atypical hemolytic uremic syndrome is structurally different from its homologous site in factor H-related protein 1, supporting a novel model for induction of autoimmunity in this disease.

Bhattacharjee A et al.

The Journal of Biological Chemistry, 2015

Structural basis for sialic acid-mediated self-recognition by complement factor H.

Blaum BS et al.

Nature Chemical Biology, 2015

A novel quantitative hemolytic assay coupled with restriction fragment length polymorphisms analysis enabled early diagnosis of atypical hemolytic uremic syndrome and identified unique predisposing mutations in Japan.

Yoshida Y et al.

Plos One, 2015

New functional and structural insights from updated mutational databases for complement factor H, Factor I, membrane cofactor protein and C3.

Rodriguez E et al.

Bioscience Reports, 2014

Use of eculizumab and plasma exchange in successful combined liver-kidney transplantation in a case of atypical HUS associated with complement factor H mutation.

Tran H et al.

Pediatric Nephrology (berlin, Germany), 2014

Comprehensive genetic analysis of complement and coagulation genes in atypical hemolytic uremic syndrome.

Bu F et al.

Journal of the American Society of Nephrology : Jasn, 2014

Postoperative atypical hemolytic uremic syndrome associated with complement c3 mutation.

Matsukuma E et al.

Case Reports in Nephrology, 2014

Atypical hemolytic uremic syndrome.

Kavanagh D et al.

Seminars in Nephrology, 2013

Analysis of genetic and predisposing factors in Japanese patients with atypical hemolytic uremic syndrome.

Fan X et al.

Molecular Immunology, 2013

Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype.

Bresin E et al.

Journal of the American Society of Nephrology : Jasn, 2013

Familial atypical hemolytic uremic syndrome: a review of its genetic and clinical aspects.

Bu F et al.

Clinical & Developmental Immunology, 2012

Complement activation during liver transplantation-special emphasis on patients with atypical hemolytic uremic syndrome.

Koskinen AR et al.

American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 2011

Structural basis for engagement by complement factor H of C3b on a self surface.

Morgan HP et al.

Nature Structural & Molecular Biology, 2011

Genetics and complement in atypical HUS.

Kavanagh D et al.

Pediatric Nephrology (berlin, Germany), 2010

Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype.

Noris M et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2010

Successful isolated liver transplantation in a child with atypical hemolytic uremic syndrome and a mutation in complement factor H.

Haller W et al.

American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 2010

Transplantation in atypical hemolytic uremic syndrome.

Kavanagh D et al.

Seminars in Thrombosis and Hemostasis, 2010

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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."