Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome. - Wikidata - wikimedia - TriplyDB

Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome.

Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome.

http://www.wikidata.org/entity/Q33373674

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Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome Atypical hemolytic uremic syndrome Recurrent atypical hemolytic uremic syndrome associated with factor I mutation in a living related renal transplant recipient 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 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 Pathogenesis of thrombotic microangiopathies Complement factor H and the hemolytic uremic syndrome Clinical Practice Guidelines for the Management of Atypical Hemolytic Uremic Syndrome in Korea Overview of C3 Glomerulopathy Advances and challenges in the management of complement-mediated thrombotic microangiopathies The complotype: dictating risk for inflammation and infection Atypical hemolytic-uremic syndrome: a case report and literature review 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 The development of atypical hemolytic uremic syndrome depends on complement C5 The systemic cytokine environment is permanently altered in multiple myeloma Haemolytic uraemic syndrome.Partial ADAMTS13 deficiency in atypical hemolytic uremic syndrome.Spontaneous hemolytic uremic syndrome triggered by complement factor H lacking surface recognition domains.Complement in glomerular injury.Successful liver-kidney transplantation in two children with aHUS caused by a mutation in complement factor H.Translational mini-review series on complement factor H: therapies of renal diseases associated with complement factor H abnormalities: atypical haemolytic uraemic syndrome and membranoproliferative glomerulonephritis.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 Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome Lack of association between polymorphisms in C4b-binding protein and atypical haemolytic uraemic syndrome in the Spanish population.Mutations of factor H impair regulation of surface-bound C3b by three mechanisms in atypical hemolytic uremic syndrome.Prophylactic plasma exchange in CD46-associated atypical haemolytic 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.Myocardial infarction is a complication of factor H-associated atypical HUS.Thrombotic microangiopathies: multimers, metalloprotease, and beyond.

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P2860

Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome.

http://www.wikidata.org/entity/Q33373674

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Proceedings of the National Academy of Sciences of the United States of America

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Gain-of-function mutations in ...... cal hemolytic uremic syndrome.

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B Paul Morgan

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Claire L Harris

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Cynthia Abarrategui Garrido

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Elena Aller Arranz

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Elena Goicoechea de Jorge

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Jorge Esparza-Gordillo

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Luis Carreras

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Pilar Sánchez-Corral

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P2860

A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration

Complement factor H polymorphism in age-related macular degeneration

Complement factor I deficiency associated with recurrent meningitis coinciding with menstruation

Complement factor H variant increases the risk of age-related macular degeneration

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

Structural analysis of engineered Bb fragment of complement factor B: insights into the activation mechanism of the alternative pathway C3-convertase

Complement factor H polymorphism and age-related macular degeneration

Crystal structure of the A domain from complement factor B reveals an integrin-like open conformation.

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.

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1

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104

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Santiago Rodriguez de Córdoba

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6617182

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