Phenotypic expression of factor H mutations in patients with atypical hemolytic uremic syndrome. (Q33370511)

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17 January 2020

title

Phenotypic expression of factor H mutations in patients with atypical hemolytic uremic syndrome (English)

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17 January 2020

9

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author name string

Vaziri-Sani F

1

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17 January 2020

Holmberg L

2

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17 January 2020

Sjöholm AG

3

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17 January 2020

Kristoffersson AC

4

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17 January 2020

Manea M

5

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17 January 2020

Frémeaux-Bacchi V

6

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17 January 2020

Fehrman-Ekholm I

7

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17 January 2020

Raafat R

8

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language of work or name

English

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publication date

1 March 2006

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17 January 2020

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17 January 2020

volume

69

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17 January 2020

issue

6

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page(s)

981-988

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Complement factor H and related proteins: an expanding family of complement-regulatory proteins?

17 January 2020

cites work

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7 January 2021

Complement. First of two parts

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FHL-1/reconectin and factor H: two human complement regulators which are encoded by the same gene are differently expressed and regulated

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Host recognition and target differentiation by factor H, a regulator of the alternative pathway of complement

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Regulation of the activity of platelet-bound C3 convertase of the alternative pathway of complement by platelet factor H

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7 January 2021

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

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

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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

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7 January 2021

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

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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

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7 January 2021

H deficiency in two brothers with atypical dense intramembranous deposit disease

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Inherited factor H deficiency and collagen type III glomerulopathy

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Glomerular paramesangial deposits: association with hypocomplementemia in membranoproliferative glomerulonephritis types I and III

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7 January 2021

Haemolytic uraemic syndrome and thrombotic thrombocytopenic purpura

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7 January 2021

Membranoproliferative glomerulonephritis type III

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7 January 2021

Factor H and the pathogenesis of renal diseases

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7 January 2021

Factor H family proteins: on complement, microbes and human diseases

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7 January 2021

Molecular basis for factor H and FHL-1 deficiency in an Italian family

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7 January 2021

The molecular basis for hereditary porcine membranoproliferative glomerulonephritis type II: point mutations in the factor H coding sequence block protein secretion

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7 January 2021

Human factor H deficiency. Mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism

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7 January 2021

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

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7 January 2021

Complement factor H and the haemolytic uraemic syndrome

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7 January 2021

Functional analysis in serum from atypical Hemolytic Uremic Syndrome patients reveals impaired protection of host cells associated with mutations in factor H.

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7 January 2021

Differential expression of complement components in human fetal and adult kidneys

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7 January 2021

Compartmental localization of complement component transcripts in the normal human kidney

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7 January 2021

Regulation of C3 and factor H synthesis of human glomerular mesangial cells by IL-1 and interferon-gamma

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7 January 2021

Human complement factor H. Tissue specificity in the expression of three different mRNA species

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7 January 2021

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7 January 2021

Factor H binds to washed human platelets.

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Discrimination between activators and nonactivators of the alternative pathway of complement: regulation via a sialic acid/polyanion binding site on factor H

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7 January 2021

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

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7 January 2021

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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7 January 2021

Hemolytic uremic syndrome: how do factor H mutants mediate endothelial damage?

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Hereditary, complete deficiency of complement factor H associated with recurrent meningococcal disease

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7 January 2021

Hemolytic uremic syndrome associated with glomerular disease

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7 January 2021

Membranoproliferative glomerulonephritis and haemolytic-uraemic syndrome in a patient with congenital chloride diarrhoea

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7 January 2021

Secondary membranoproliferative glomerulonephritis due to hemolytic uremic syndrome: an unusual presentation

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7 January 2021

Mapping of the domains required for decay acceleration activity of the human factor H-like protein 1 and factor H.

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7 January 2021

Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channel

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7 January 2021

Contact-system activation in children with vasculitis

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7 January 2021

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7 January 2021

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7 January 2021

Platelet activation by Shiga toxin and circulatory factors as a pathogenetic mechanism in the hemolytic uremic syndrome.

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7 January 2021

Identifiers

DOI

10.1038/SJ.KI.5000155

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16528247%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

17 January 2020

1017508847

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1 reference