Varaico: Literature-Extracted Genetic Variants

Gene:CFH
Variant:p.E1172*
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CFH

NM_000186.4:p.E1172*

Associated Papers

Features of Postpartum Hemorrhage-Associated Thrombotic Microangiopathy and Role of Short-Term Complement Inhibition.

Kaufeld JK et al.

Kidney International Reports, 2024

38765599 (PubMed )
Supplement: mmc1.pdf

Atypical HUS with multiple complement system mutations triggered by synthetic psychoactive drug abuse: a case report.

Jelicic I et al.

Journal of Nephrology, 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

An ex vivo test to investigate genetic factors conferring susceptibility to atypical haemolytic uremic syndrome.

Gastoldi S et al.

Frontiers in Immunology, 2023

Phenotypic Expression of CFH Rare Variants in Age-Related Macular Degeneration Patients in the Coimbra Eye Study.

Farinha C et al.

Investigative Ophthalmology & Visual Science, 2022

35925583 (PubMed )
Supplement: iovs-63-9-5_s002.pdf

C5a and C5aR1 are key drivers of microvascular platelet aggregation in clinical entities spanning from aHUS to COVID-19.

Aiello S et al.

Blood Advances, 2022

Characteristics, management and outcomes of atypical haemolytic uraemic syndrome in kidney transplant patients: a retrospective national study.

Portoles J et al.

Clinical Kidney Journal, 2021

33841863 (PubMed )
Supplement: sfaa096_supplementary_data.zip › Supl_genetics_R2.docx

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

An adult case of atypical hemolytic uremic syndrome presented with posterior reversible encephalopathy syndrome: Successful response to late-onset eculizumab treatment.

Medeni SS et al.

Hematology Reports, 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

Diseases of complement dysregulation-an overview.

Wong EKS et al.

Seminars in Immunopathology, 2018

A haplotype in CFH family genes confers high risk of rare glomerular nephropathies.

Ding Y et al.

Scientific Reports, 2017

An update for atypical haemolytic uraemic syndrome: diagnosis and treatment. A consensus document.

Campistol JM et al.

Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia, 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

Dynamics of complement activation in aHUS and how to monitor eculizumab therapy.

Noris M et al.

Blood, 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

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

Preservation of renal function in atypical hemolytic uremic syndrome by eculizumab: a case report.

Giordano M et al.

Pediatrics, 2012

Rescue therapy with eculizumab in a transplant recipient with atypical haemolytic-uraemic syndrome.

Durán CE et al.

Clinical Kidney Journal, 2012

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

Impact of compound heterozygous complement factor H mutations on development of atypical hemolytic uremic syndrome-A pedigree revisited.

Johnson SA et al.

Molecular Immunology, 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

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

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

Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease.

Caprioli J et al.

Human Molecular Genetics, 2003

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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."