Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome (Q24685473)

18

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John P Atkinson

17

object named as

John P Atkinson

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Marina Noris

2

object named as

Marina Noris

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author name string

Jessica Caprioli

1

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Simona Brioschi

3

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Gaia Pianetti

4

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Federica Castelletti

5

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Paola Bettinaglio

6

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Caterina Mele

7

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Elena Bresin

8

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Linda Cassis

9

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Sara Gamba

10

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Francesca Porrati

11

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Sara Bucchioni

12

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Giuseppe Monteferrante

13

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Celia J Fang

14

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M K Liszewski

Thrombotic microangiopathy, hemolytic uremic syndrome, and thrombotic thrombocytopenic purpura

15

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language of work or name

English

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publication date

15 August 2006

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published in

Blood

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volume

108

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page(s)

1267-79

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issue

4

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cites work

1 reference

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Insights into hemolytic uremic syndrome: segregation of three independent predisposition factors in a large, multiple affected pedigree

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Factor H and atypical hemolytic uremic syndrome: mutations in the C-terminus cause structural changes and defective recognition functions

28 September 2017

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Binding of complement factor H to endothelial cells is mediated by the carboxy-terminal glycosaminoglycan binding site

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28 September 2017

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Hemolytic uremic syndrome: a fatal outcome after kidney and liver transplantation performed to correct factor h gene mutation

28 September 2017

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The development of atypical haemolytic-uraemic syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: evidence from two independent cohorts

28 September 2017

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Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32.

28 September 2017

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

28 September 2017

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Clinico-pathological findings in diarrhoea-negative haemolytic uraemic syndrome

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

28 September 2017

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Attachment of the soluble complement regulator factor H to cell and tissue surfaces: relevance for pathology

28 September 2017

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Familial haemolytic uraemic syndrome and an MCP mutation

28 September 2017

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Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease

28 September 2017

1 reference

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

28 September 2017

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Renal transplantation in patients with hemolytic uremic syndrome: high rate of recurrence and increased incidence of acute rejections

28 September 2017

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The risk of recurrence of hemolytic uremic syndrome after renal transplantation in children

28 September 2017

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

28 September 2017

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The association of pregnancy with thrombotic thrombocytopenic purpura-hemolytic uremic syndrome

28 September 2017

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

28 September 2017

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

28 September 2017

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Cutting edge: localization of the host recognition functions of complement factor H at the carboxyl-terminal: implications for hemolytic uremic syndrome

28 September 2017

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Combined kidney and liver transplantation for familial haemolytic uraemic syndrome

28 September 2017

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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

28 September 2017

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28 September 2017

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

28 September 2017

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

28 September 2017

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

28 September 2017

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28 September 2017

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28 September 2017

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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 [...]

28 September 2017

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The pathogenesis and treatment of hemolytic uremic syndrome.

28 September 2017

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Genetic studies into inherited and sporadic hemolytic uremic syndrome

28 September 2017

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Recurrence of haemolytic-uraemic syndrome in renal transplants: a single-centre report

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895874

The organization of the human complement factor I gene (IF): a member of the serine protease gene family

28 September 2017

1 reference

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Escherichia coli O157:H7 and the hemolytic-uremic syndrome

28 September 2017

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Familial hypocomplementemic hemolytic uremic syndrome with HLA-A3,B7 haplotype

28 September 2017

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Letter: Haemolytic-uraemic syndrome: evidence for intravascular C3 activation

28 September 2017

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Renal function at hospital admission as a prognostic factor in adult hemolytic uremic syndrome. The Italian Registry of Haemolytic Uremic Syndrome

28 September 2017

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Inherited hemolytic uremic syndrome in adults

28 September 2017

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Dissecting Sites Important for Complement Regulatory Activity in Membrane Cofactor Protein (MCP; CD46)

28 September 2017

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Identification and characterization of membrane cofactor protein (CD46) in the human kidneys

28 November 2018

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Complement C3b/C3d and cell surface polyanions are recognized by overlapping binding sites on the most carboxyl-terminal domain of complement factor H

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Membrane cofactor protein: importance of N- and O-glycosylation for complement regulatory function

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Single Strand Conformation Polymorphism (SSCP) as a quick and reliable method to genotype M235T polymorphism of angiotensinogen gene

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Identifiers

DOI

1 reference

2355606

2355606

1 reference

1 reference

1 reference