Haemolytic uraemic syndrome and mutations of the factor H gene: a registry-based study of German speaking countries - Wikidata - wikimedia - TriplyDB

Haemolytic uraemic syndrome and mutations of the factor H gene: a registry-based study of German speaking countries

Haemolytic uraemic syndrome and mutations of the factor H gene: a registry-based study of German speaking countries

http://www.wikidata.org/entity/Q33349831

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Atypical hemolytic uremic syndrome Structure of complement factor H carboxyl-terminus reveals molecular basis of atypical haemolytic 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 Pathogenesis of thrombotic microangiopathies Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome Advances and challenges in the management of complement-mediated thrombotic microangiopathies Atypical haemolytic uraemic syndrome associated with a hybrid complement gene The binding of factor H to a complex of physiological polyanions and C3b on cells is impaired in atypical hemolytic uremic syndrome.Calcineurin inhibitor-free immunosuppression in renal allograft recipients with thrombotic microangiopathy/hemolytic uremic syndrome.Favorable long-term outcome after liver-kidney transplant for recurrent hemolytic uremic syndrome associated with a factor H mutation.Genetic abnormalities of complement regulators in hemolytic uremic syndrome: how do they affect patient management?Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome.Normal levels of ADAMTS13 and factor H are present in the pharmaceutically licensed plasma for transfusion (Octaplas) and in the universally applicable plasma (Uniplas) in development.Spontaneous hemolytic uremic syndrome triggered by complement factor H lacking surface recognition domains.Recurrence of HUS due to CD46/MCP mutation after renal transplantation: a role for endothelial microchimerism.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 Successful split liver-kidney transplant for factor H associated hemolytic uremic syndrome.Atypical hemolytic uremic syndrome associated with complement factor H autoantibodies and CFHR1/CFHR3 deficiency.A large family with a gain-of-function mutation of complement C3 predisposing to atypical hemolytic uremic syndrome, microhematuria, hypertension and chronic renal failure.Successful renal transplantation in factor H autoantibody associated HUS with CFHR1 and 3 deficiency and CFH variant G2850T.Genetics and complement in atypical HUS.Disease-associated N-terminal complement factor H mutations perturb cofactor and decay-accelerating activities.Age-related penetrance of hereditary atypical hemolytic uremic syndrome.Factor H and CFHR1 polymorphisms associated with atypical Haemolytic Uraemic Syndrome (aHUS) are differently expressed in Tunisian and in Caucasian populations.STEC-HUS, atypical HUS and TTP are all diseases of complement activation.Comprehensive analysis of glomerular mRNA expression of pro- and antithrombotic genes in atypical haemolytic-uremic syndrome (aHUS).Complement therapy in atypical haemolytic uraemic syndrome (aHUS).De novo tacrolimus-induced thrombotic microangiopathy in the early stage after renal transplantation successfully treated with conversion to everolimus.Anti-complement-factor H-associated glomerulopathies.A haplotype in CFH family genes confers high risk of rare glomerular nephropathies.Exploring the genetic basis of early-onset chronic kidney disease.An allelic variant of Crry in the murine Sle1c lupus susceptibility interval is not impaired in its ability to regulate complement activation.Atypical hemolytic uremic syndrome and mutation analysis of factor H gene in two Tunisian families.A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.Mutations in genes encoding complement inhibitors CD46 and CFH affect the age at nephritis onset in patients with systemic lupus erythematosus.Turkish pediatric atypical hemolytic uremic syndrome registry: initial analysis of 146 patients

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Haemolytic uraemic syndrome and mutations of the factor H gene: a registry-based study of German speaking countries

http://www.wikidata.org/entity/Q33349831

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Journal of Medical Genetics

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Bender BU

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P2860

Thrombotic microangiopathy, hemolytic uremic syndrome, and thrombotic thrombocytopenic purpura

Human non-synonymous SNPs: server and survey

Hypocomplementemia discloses genetic predisposition to hemolytic uremic syndrome and thrombotic thrombocytopenic purpura: role of factor H abnormalities. Italian Registry of Familial and Recurrent Hemolytic Uremic Syndrome/Thrombotic Thrombocytopeni

Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome.

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

Hemolytic uremic syndrome in families.

Complement factor H and the haemolytic uraemic syndrome.

The haemolytic uraemic syndrome--a family study.

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