The complement factor H R1210C mutation is associated with atypical hemolytic uremic syndrome - Wikidata - wikimedia - TriplyDB

The complement factor H R1210C mutation is associated with atypical hemolytic uremic syndrome

The complement factor H R1210C mutation is associated with atypical hemolytic uremic syndrome

http://www.wikidata.org/entity/Q33378469

about

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 The complotype: dictating risk for inflammation and infection Pregnancy-associated hemolytic uremic syndrome revisited in the era of complement gene mutations.Genetics and complement in atypical HUS.Variant-specific quantification of factor H in plasma identifies null alleles associated with atypical hemolytic uremic syndrome.A prevalent C3 mutation in aHUS patients causes a direct C3 convertase gain of function.Familial atypical hemolytic uremic syndrome: a review of its genetic and clinical aspects.Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype.Eculizumab long-term therapy for pediatric renal transplant in aHUS with CFH/CFHR1 hybrid gene.Dynamics of complement activation in aHUS and how to monitor eculizumab therapy Factors determining penetrance in familial atypical haemolytic uraemic syndrome.Atypical hemolytic uremic syndrome post-kidney transplantation: two case reports and review of the literature The molecular and structural bases for the association of complement C3 mutations with atypical hemolytic uremic syndrome.Role of the skin biopsy in the diagnosis of atypical hemolytic uremic syndrome.Molecular Basis of Factor H R1210C Association with Ocular and Renal Diseases.Anti-complement-factor H-associated glomerulopathies.Variants in Complement Factor H and Complement Factor H-Related Protein Genes, CFHR3 and CFHR1, Affect Complement Activation in IgA Nephropathy A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.Links between coagulation, inflammation, regeneration, and fibrosis in kidney pathology.Risk factors and biomarkers of age-related macular degeneration.Complement factor H R1210C among Japanese patients with age-related macular degeneration.Murine systemic thrombophilia and hemolytic uremic syndrome from a factor H point mutation.Postpartum aHUS secondary to a genetic abnormality in factor H acquired through liver transplantation.

P2860

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P2860

The complement factor H R1210C mutation is associated with atypical hemolytic uremic syndrome

http://www.wikidata.org/entity/Q33378469

description

2008 nî lūn-bûn

@nan

2008 թուականի Յունուարին հրատարակուած գիտական յօդուած

@hyw

2008 թվականի հունվարին հրատարակված գիտական հոդված

@hy

2008年の論文

@ja

2008年論文

@yue

2008年論文

@zh-hant

2008年論文

@zh-hk

2008年論文

@zh-mo

2008年論文

@zh-tw

2008年论文

@wuu

name

The complement factor H R1210C ...... ical hemolytic uremic syndrome

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The complement factor H R1210C ...... ical hemolytic uremic syndrome

@en

type

label

The complement factor H R1210C ...... ical hemolytic uremic syndrome

@ast

The complement factor H R1210C ...... ical hemolytic uremic syndrome

@en

prefLabel

The complement factor H R1210C ...... ical hemolytic uremic syndrome

@ast

The complement factor H R1210C ...... ical hemolytic uremic syndrome

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P1433

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P1433

Journal of the American Society of Nephrology

P1476

The complement factor H R1210C ...... ical hemolytic uremic syndrome

@en

P2093

Christine Skerka

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European Working Party on the Genetics of HUS

http://www.w3.org/2001/XMLSchema#string

Gaia Pianetti

http://www.w3.org/2001/XMLSchema#string

Joachim Misselwitz

http://www.w3.org/2001/XMLSchema#string

Lisa Strain

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Marina Noris

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Ruben Martinez-Barricarte

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Ruxandra Gautard

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Tim Goodship

http://www.w3.org/2001/XMLSchema#string

Veronique Fremeaux-Bacchi

http://www.w3.org/2001/XMLSchema#string

P2860

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

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

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

Molecular modelling of the C-terminal domains of factor H of human complement: a correlation between haemolytic uraemic syndrome and a predicted heparin binding site.

Structural and functional characterization of factor H mutations associated with atypical hemolytic uremic syndrome

Mutations in factor H reduce binding affinity to C3b and heparin and surface attachment to endothelial cells in hemolytic uremic syndrome.

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

P304

639-646

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scholarly article

P356

10.1681/ASN.2007080923

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3

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P478

19

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P50

Giuseppe Remuzzi

Véronique Frémeaux-Bacchi

Santiago Rodriguez de Córdoba

P577

2008-01-30T00:00:00Z

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5617086

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18235085

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2391060

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