De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome.
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Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndromeAtypical hemolytic uremic syndromeExtended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration: characterization, ethnic distribution and evolutionary implicationsGenetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcomeCurrent treatment of atypical hemolytic uremic syndromeA common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degenerationAtypical haemolytic uraemic syndrome associated with a hybrid complement geneThe binding of factor H to a complex of physiological polyanions and C3b on cells is impaired in atypical hemolytic uremic syndrome.Gene conversion causing human inherited disease: evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair.Complement factor h gene abnormalities in haemolytic uraemic syndrome: from point mutations to hybrid geneAge-related macular degeneration--emerging pathogenetic and therapeutic concepts.Translational mini-review series on complement factor H: genetics and disease associations of human complement factor H.Successful split liver-kidney transplant for factor H associated hemolytic uremic syndrome.Complement factor H: using atomic resolution structure to illuminate disease mechanisms.Atypical hemolytic uremic syndrome associated with complement factor H autoantibodies and CFHR1/CFHR3 deficiency.Genetics and complement in atypical HUS.Age-related penetrance of hereditary atypical hemolytic uremic syndrome.Renal transplantation under prophylactic eculizumab in atypical hemolytic uremic syndrome with CFH/CFHR1 hybrid protein.Complement therapy in atypical haemolytic uraemic syndrome (aHUS).Analysis of patients with atypical hemolytic uremic syndrome treated at the Mie University Hospital: concentration of C3 p.I1157T mutation.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.A De Novo Deletion in the Regulators of Complement Activation Cluster Producing a Hybrid Complement Factor H/Complement Factor H-Related 3 Gene in Atypical Hemolytic Uremic Syndrome.Liver transplantation for aHUS: still needed in the eculizumab era?Anti-complement-factor H-associated glomerulopathies.Complement control protein factor H: the good, the bad, and the inadequate.Gene conversion and evolution of gene families: an overview.MLC1 mutations in Japanese patients with megalencephalic leukoencephalopathy with subcortical cysts.C3 glomerulopathy-associated CFHR1 mutation alters FHR oligomerization and complement regulation.The Genetics of Ultra-Rare Renal Disease.Translational mini-review series on complement factor H: structural and functional correlations for factor H.Factor h: a complement regulator in health and disease, and a mediator of cellular interactions.New functional and structural insights from updated mutational databases for complement factor H, Factor I, membrane cofactor protein and C3.The complement factor H-related proteins.The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment.Complementopathies.Disease-linked mutations in factor H reveal pivotal role of cofactor activity in self-surface-selective regulation of complement activation.Safety and effectiveness of restrictive eculizumab treatment in atypical haemolytic uremic syndrome.Factor H Competitor Generated by Gene Conversion Events Associates with Atypical Hemolytic Uremic Syndrome.Hemolytic Uremic Syndrome in Pregnancy and Postpartum.FHR-1 Binds to C-Reactive Protein and Enhances Rather than Inhibits Complement Activation.
P2860
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P2860
De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome.
description
2006 nî lūn-bûn
@nan
2006 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի մարտին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
De novo gene conversion in the ...... cal hemolytic uremic syndrome.
@ast
De novo gene conversion in the ...... cal hemolytic uremic syndrome.
@en
type
label
De novo gene conversion in the ...... cal hemolytic uremic syndrome.
@ast
De novo gene conversion in the ...... cal hemolytic uremic syndrome.
@en
prefLabel
De novo gene conversion in the ...... cal hemolytic uremic syndrome.
@ast
De novo gene conversion in the ...... cal hemolytic uremic syndrome.
@en
P2093
P50
P356
P1433
P1476
De novo gene conversion in the ...... cal hemolytic uremic syndrome.
@en
P2093
Christine Skerka
Elizabeth J Kemp
Eric Wagner
Jorge Esparza-Gordillo
Judith A Goodship
Kevin Meyers
Lisa Strain
Pierre Robitaille
Pilar Sanchez-Corral
Santiago Rodriguez de Cordoba
P304
P356
10.1002/HUMU.9408
P577
2006-03-01T00:00:00Z