Varaico: Literature-Extracted Genetic Variants

Gene:CFH
Variant:p.R1182S
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CFH

NM_000186.4:p.R1182S

Associated Papers

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

Podocytes Produce and Secrete Functional Complement C3 and Complement Factor H.

Mühlig AK et al.

Frontiers in Immunology, 2020

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

Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders.

Mallett AJ et al.

Kidney International, 2017

VEGF regulates local inhibitory complement proteins in the eye and kidney.

Keir LS et al.

The Journal of Clinical Investigation, 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

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

Atypical hemolytic uremic syndrome-associated variants and autoantibodies impair binding of factor h and factor h-related protein 1 to pentraxin 3.

Kopp A et al.

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

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

Bu F et al.

Clinical & Developmental Immunology, 2012

Plasma therapy for atypical haemolytic uraemic syndrome associated with heterozygous factor H mutations.

Kim JJ et al.

Pediatric Nephrology (berlin, Germany), 2011

Age-related penetrance of hereditary atypical hemolytic uremic syndrome.

Sullivan M et al.

Annals of Human Genetics, 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

Association of a factor H mutation with hemolytic uremic syndrome following a diarrheal illness.

Edey MM et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2008

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

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