Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition (Q33335836)

25 July 2017

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

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25 July 2017

8

Goodship JA

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25 July 2017

9

Goodship TH

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25 July 2017

Richards A

1

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25 July 2017

Buddles MR

2

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25 July 2017

Donne RL

3

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25 July 2017

Kaplan BS

4

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25 July 2017

Kirk E

5

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25 July 2017

Venning MC

6

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25 July 2017

Tielemans CL

7

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25 July 2017

language of work or name

English

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publication date

17 January 2001

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American Journal of Human Genetics

25 July 2017

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25 July 2017

68

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25 July 2017

2

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25 July 2017

485-490

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Complement factor H: sequence analysis of 221 kb of human genomic DNA containing the entire fH, fHR-1 and fHR-3 genes

25 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235281

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235281

The factor H protein family

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235281

A radiation hybrid map of complement factor H and factor H-related genes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235281

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 [...]

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235281

Disruption of disulfide bonds is responsible for impaired secretion in human complement factor H deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235281

Human complement factor H deficiency associated with hemolytic uremic syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235281

Hypocomplementemic autosomal recessive hemolytic uremic syndrome with decreased factor H.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235281

Genetic studies into inherited and sporadic hemolytic uremic syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235281

The C-terminus of factor H: monoclonal antibodies inhibit heparin binding and identify epitopes common to factor H and factor H-related proteins

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235281

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235281

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235281

Familial hemolytic-uremic syndrome and homozygous factor H deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235281

Hereditary porcine membranoproliferative glomerulonephritis type II is caused by factor H deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235281

The complete amino acid sequence of human complement factor H

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235281

Recurrent haemolytic uraemic syndrome and acquired hypomorphic variant of the third component of complement

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235281

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235281

Molecular mechanisms of target recognition in an innate immune system: interactions among factor H, C3b, and target in the alternative pathway of human complement.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235281

Heterozygous and homozygous factor H deficiency states in a Dutch family

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235281

Bi-directional dideoxy fingerprinting (Bi-ddF): a rapid method for quantitative detection of mutations in genomic regions of 300-600 bp

31 October 2018

1 reference

12 December 2020

Identification of a heparin binding domain in the seventh short consensus repeat of complement factor H

1 reference

12 December 2020

Identification of the second heparin-binding domain in human complement factor H

1 reference

12 December 2020

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

1 reference

12 December 2020

Hypocomplementaemia due to a genetic deficiency of beta 1H globulin

1 reference

12 December 2020

H deficiency in two brothers with atypical dense intramembranous deposit disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Ordering of the human regulator of complement activation gene cluster on 1q32 by two-colour FISH

1 reference

12 December 2020

Identifiers

DOI

10.1086/318203

1 reference

25 July 2017

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25 July 2017

1 reference