Varaico: Literature-Extracted Genetic Variants

Gene:CFH
Variant:p.T1184R
Back to variants list

CFH

NM_000186.4:p.T1184R

Associated Papers

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

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

Martín Merinero H et al.

Blood, 2021

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

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

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

Hyvärinen S et al.

Blood, 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

Mapping the Complement Factor H-Related Protein 1 (CFHR1):C3b/C3d Interactions.

Hannan JP et al.

Plos One, 2016

27814381 (PubMed )
Supplement: pone.0166200.s003.docx

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

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

Recognition of malondialdehyde-modified proteins by the C terminus of complement factor H is mediated via the polyanion binding site and impaired by mutations found in atypical hemolytic uremic syndrome.

Hyvärinen S et al.

The Journal of Biological Chemistry, 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

Successful simultaneous liver-kidney transplant in an adult with atypical hemolytic uremic syndrome associated with a mutation in complement factor H.

Wilson C et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 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

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

Hirt-Minkowski P et al.

Nephron. Clinical Practice, 2010

Mutations of factor H impair regulation of surface-bound C3b by three mechanisms in atypical hemolytic uremic syndrome.

Lehtinen MJ et al.

The Journal of Biological Chemistry, 2009

The binding of factor H to a complex of physiological polyanions and C3b on cells is impaired in atypical hemolytic uremic syndrome.

Ferreira VP et al.

Journal of Immunology (baltimore, Md. : 1950), 2009

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

The interactive Factor H-atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and Factor I mutations with structural models.

Saunders RE et al.

Human Mutation, 2007

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

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

Rodríguez de Córdoba S et al.

Molecular Immunology, 2004

Structural and functional characterization of factor H mutations associated with atypical hemolytic uremic syndrome.

Sánchez-Corral P et al.

American Journal of Human Genetics, 2002

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."