Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome - Wikidata - awgldk - TriplyDB

Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome

Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome

http://www.wikidata.org/entity/Q21145235

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Atypical hemolytic uremic syndrome Clinical features of anti-factor H autoantibody-associated hemolytic uremic syndrome Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome Complement in age-related macular degeneration: a focus on function Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee New developments in the genetics, pathogenesis, and therapy of IgA nephropathy Atypical hemolytic-uremic syndrome: a case report and literature review An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD)Patterns of somatically acquired amplifications and deletions in apparently normal tissues of ovarian cancer patients Comprehensive analysis of Copy Number Variation of genes at chromosome 1 and 10 loci associated with late age related macular degeneration cnvCapSeq: detecting copy number variation in long-range targeted resequencing data.Leptospira interrogans endostatin-like outer membrane proteins bind host fibronectin, laminin and regulators of complement Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degeneration Translational mini-review series on complement factor H: genetics and disease associations of human complement factor H.Translational mini-review series on complement factor H: renal diseases associated with complement factor H: novel insights from humans and animals.The complement factor H R1210C mutation is associated with atypical hemolytic uremic syndrome Plasma therapy in atypical haemolytic uremic syndrome: lessons from a family with a factor H mutation.Lack of association between polymorphisms in C4b-binding protein and atypical haemolytic uraemic syndrome in the Spanish population.Atypical hemolytic uremic syndrome associated with complement factor H autoantibodies and CFHR1/CFHR3 deficiency.Complement inhibitor eculizumab in atypical hemolytic uremic syndrome.A large family with a gain-of-function mutation of complement C3 predisposing to atypical hemolytic uremic syndrome, microhematuria, hypertension and chronic renal failure.Thrombomodulin mutations in atypical hemolytic-uremic syndrome.Genetics and complement in atypical HUS.Novel developments in thrombotic microangiopathies: is there a common link between hemolytic uremic syndrome and thrombotic thrombocytic purpura?Thrombotic microangiopathy mimicking membranoproliferative glomerulonephritis.Factor I autoantibodies in patients with atypical hemolytic uremic syndrome: disease-associated or an epiphenomenon?Atypical hemolytic uremic syndrome in children: complement mutations and clinical characteristics Renal transplantation under prophylactic eculizumab in atypical hemolytic uremic syndrome with CFH/CFHR1 hybrid protein.Thrombotic microangiopathy and associated renal disorders.Factor H autoantibodies and deletion of Complement Factor H-Related protein-1 in rheumatic diseases in comparison to atypical hemolytic uremic syndrome Complement factor H-related protein 1 deficiency and factor H antibodies in pediatric patients with atypical hemolytic uremic syndrome.Assesment, treatment and prevention of atypical hemolytic uremic syndrome.Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype.Two patients with history of STEC-HUS, posttransplant recurrence and complement gene mutations.Comprehensive genetic analysis of complement and coagulation genes in atypical hemolytic uremic syndrome.Successful treatment of DEAP-HUS with eculizumab.Atypical haemolytic-uraemic syndrome due to heterozygous mutations of CFH/CFHR1-3 and complement factor H 479.A novel atypical hemolytic uremic syndrome-associated hybrid CFHR1/CFH gene encoding a fusion protein that antagonizes factor H-dependent complement regulation.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.The role of ADAMTS-13 activity and complement mutational analysis in differentiating acute thrombotic microangiopathies

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P2860

Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome

http://www.wikidata.org/entity/Q21145235

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2007 nî lūn-bûn

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Bernd Hoppe

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Matthew Edey

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P2860

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

A novel short consensus repeat-containing molecule is related to human complement factor H

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

A radiation hybrid map of complement factor H and factor H-related genes

Functional properties of complement factor H-related proteins FHR-3 and FHR-4: binding to the C3d region of C3b and differential regulation by heparin

Complement factor H: sequence analysis of 221 kb of human genomic DNA containing the entire fH, fHR-1 and fHR-3 genes

Complement factor H and related proteins: an expanding family of complement-regulatory proteins?

A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration

Atypical haemolytic uraemic syndrome associated with a hybrid complement gene

Cutting edge: localization of the host recognition functions of complement factor H at the carboxyl-terminal: implications for hemolytic uremic syndrome.

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