Varaico: Literature-Extracted Genetic Variants

Gene:CFH
Variant:p.S1191W
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CFH

NM_000186.4:p.S1191W

Associated Papers

Bone impairment in atypical hemolytic and uremic syndrome treated by long-term eculizumab.

Regnier M et al.

Pediatric Nephrology (berlin, Germany), 2025

Ex vivo C5b-9 Deposition Test to Monitor Complement Activity in Clinical and Subclinical Atypical Hemolytic Uremic Syndrome and in Transplantation-Associated Thrombotic Microangiopathy.

Martin M et al.

Kidney International Reports, 2024

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

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

Martín Merinero H et al.

Blood, 2021

Eculizumab discontinuation in children and adults with atypical hemolytic-uremic syndrome: a prospective multicenter study.

Fakhouri F et al.

Blood, 2021

An Atypical Case of Atypical Hemolytic Uremic Syndrome.

Francois T et al.

Journal of Pediatric Hematology/oncology, 2019

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_S4.xlsx › CFH

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

Pathogenic Variants in Complement Genes and Risk of Atypical Hemolytic Uremic Syndrome Relapse after Eculizumab Discontinuation.

Fakhouri F et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2017

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

Blaum BS et al.

Nature Chemical Biology, 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

Prophylactic eculizumab for kidney transplantation in a child with atypical hemolytic uremic syndrome due to complement factor H mutation.

Ranch D et al.

Pediatric Transplantation, 2014

Atypical hemolytic uremic syndrome.

Kavanagh D et al.

Seminars in Nephrology, 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

Acute Progression of Adult-Onset Atypical Hemolytic-Uremic Syndrome due to CFH Mutation: A Case Report.

Posnik B et al.

Case Reports in Nephrology, 2013

Genetics and complement in atypical HUS.

Kavanagh D et al.

Pediatric Nephrology (berlin, Germany), 2010

Atypical hemolytic uremic syndrome: update on the complement system and what is new.

Hirt-Minkowski P et al.

Nephron. Clinical Practice, 2010

Translational mini-review series on complement factor H: genetics and disease associations of human complement factor H.

de Córdoba SR et al.

Clinical and Experimental Immunology, 2008

Pathogenesis of thrombotic microangiopathies.

Zheng XL et al.

Annual Review of Pathology, 2008

Complement dysfunction in hemolytic uremic syndrome.

Zipfel PF et al.

Current Opinion in Rheumatology, 2006

Structure of complement factor H carboxyl-terminus reveals molecular basis of atypical haemolytic uremic syndrome.

Jokiranta TS et al.

The Embo Journal, 2006

An interactive web database of factor H-associated hemolytic uremic syndrome mutations: insights into the structural consequences of disease-associated mutations.

Saunders RE et al.

Human Mutation, 2006

Atypical haemolytic uraemic syndrome.

Kavanagh D et al.

British Medical Bulletin, 2006

[Development and application of a new ADAMTS13 assay for TTP diagnosis].

Kokame K et al.

Rinsho Byori. the Japanese Journal of Clinical Pathology, 2005

The human complement factor H: functional roles, genetic variations and disease associations.

Rodríguez de Córdoba S et al.

Molecular Immunology, 2004

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