Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome - Wikidata - wikimedia - TriplyDB

Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome

Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome

http://www.wikidata.org/entity/Q33381182

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Atypical hemolytic uremic syndrome Structural basis for engagement by complement factor H of C3b on a self surface Clinical features of anti-factor H autoantibody-associated hemolytic uremic syndrome Hemolytic uremic syndrome: new developments in pathogenesis and treatment Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis Dual interaction of factor H with C3d and glycosaminoglycans in host-nonhost discrimination by complement Pre-emptive eculizumab and plasmapheresis for renal transplant in atypical 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 Structure of complement fragment C3b-factor H and implications for host protection by complement regulators Overview of C3 Glomerulopathy Advances and challenges in the management of complement-mediated thrombotic microangiopathies Hemolytic uremic syndrome The complotype: dictating risk for inflammation and infection Current treatment of atypical hemolytic uremic syndrome Genetic variants in the complement system predisposing to age-related macular degeneration: a review Insights into complement convertase formation based on the structure of the factor B-cobra venom factor complex Complement System Part II: Role in Immunity An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD)The development of atypical hemolytic uremic syndrome depends on complement C5 Haemolytic uraemic syndrome.Analysis of rare variants in the C3 gene in patients with age-related macular degeneration.Mutations of factor H impair regulation of surface-bound C3b by three mechanisms in atypical hemolytic uremic syndrome.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.Pregnancy-associated hemolytic uremic syndrome revisited in the era of complement gene mutations.Myocardial infarction is a complication of factor H-associated atypical HUS.Thrombotic microangiopathies: multimers, metalloprotease, and beyond.Atypical hemolytic uremic syndrome in the Tunisian population.Genetics and complement in atypical HUS.aHUS caused by complement dysregulation: new therapies on the horizon.EspP, a serine protease of enterohemorrhagic Escherichia coli, impairs complement activation by cleaving complement factors C3/C3b and C5.Variant-specific quantification of factor H in plasma identifies null alleles associated with atypical hemolytic uremic syndrome.Advances in our understanding of the pathogenesis of glomerular thrombotic microangiopathy.Eculizumab induces long-term remission in recurrent post-transplant HUS associated with C3 gene mutation.Disease-associated N-terminal complement factor H mutations perturb cofactor and decay-accelerating activities.Novel developments in thrombotic microangiopathies: is there a common link between hemolytic uremic syndrome and thrombotic thrombocytic purpura?Crystallographic determination of the disease-associated T1184R variant of complement regulator factor H.

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P2860

Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome

http://www.wikidata.org/entity/Q33381182

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2008 nî lūn-bûn

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2008 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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Mutations in complement C3 pre ...... ical hemolytic uremic syndrome

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Mutations in complement C3 pre ...... ical hemolytic uremic syndrome

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Mutations in complement C3 pre ...... ical hemolytic uremic syndrome

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Mutations in complement C3 pre ...... ical hemolytic uremic syndrome

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Mutations in complement C3 pre ...... ical hemolytic uremic syndrome

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Alison L Brown

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Bernard S Kaplan

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Bruno Hurault de Ligny

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Chantal Loirat

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Elizabeth C Miller

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Gaurav Kapur

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Hubert Nivet

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Jacques Blouin

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John P Atkinson

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Karl Lhotta

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P2860

Structure of C3b reveals conformational changes that underlie complement activity

Structures of complement component C3 provide insights into the function and evolution of immunity

Atypical haemolytic uraemic syndrome associated with a hybrid complement gene

The molecular basis of familial hemolytic uremic syndrome: mutation analysis of factor H gene reveals a hot spot in short consensus repeat 20.

Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome.

Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition

Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome.

Familial haemolytic uraemic syndrome and an MCP mutation.

Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases.

Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome

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4948-4952

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scholarly article

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10.1182/BLOOD-2008-01-133702

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13

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Wolf Hervé Fridman

Marie-Agnès Dragon-Durey

Bert J C Janssen

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2008-09-16T00:00:00Z

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23260950

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