Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome (Q21145235)

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Deletion of Complement Factor H–Related Genes CFHR1 and CFHR3 Is Associated with Atypical Hemolytic Uremic Syndrome

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English	Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome	scientific article	Deletion of Complement Factor H–Related Genes CFHR1 and CFHR3 Is Associated with Atypical Hemolytic Uremic Syndrome

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scholarly article

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

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atypical hemolytic uremic syndrome

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object named as

Stefan Heinen

3

author given names

Stefan

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Heinen

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PubMed publication ID

17 August 2022

object named as

Mihály Józsi

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author given names

Mihály

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Józsi

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PubMed publication ID

17 August 2022

1

object named as

Peter F Zipfel

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Peter F

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Zipfel

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PubMed publication ID

17 August 2022

Christine Skerka

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object named as

Christine Skerka

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Christine

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Skerka

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PubMed publication ID

17 August 2022

Judith A Goodship

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Judith A

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Goodship

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Judith A Goodship

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PubMed publication ID

17 August 2022

Timothy H J Goodship

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author given names

Timothy H J

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Goodship

object named as

Timothy H J Goodship

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PubMed publication ID

17 August 2022

9

author given names

Lisa

author last names

Strain

object named as

Lisa Strain

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PubMed publication ID

17 August 2022

Joachim Misselwitz

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author given names

Joachim

author last names

Misselwitz

object named as

Joachim Misselwitz

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PubMed publication ID

17 August 2022

7

author given names

Bernd

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Hoppe

object named as

Bernd Hoppe

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PubMed publication ID

17 August 2022

Christoph Licht

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author given names

Christoph

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Licht

object named as

Christoph Licht

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PubMed publication ID

17 August 2022

2

author given names

Matthew

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Edey

object named as

Matthew Edey

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PubMed publication ID

17 August 2022

author name string

Heiko Richter

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author given names

Heiko

author last names

Richter

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PubMed publication ID

17 August 2022

Danny Routledge

8

author given names

Danny

author last names

Routledge

1 reference

PubMed publication ID

17 August 2022

Anne E Hughes

10

author given names

Anne E

author last names

Hughes

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PubMed publication ID

17 August 2022

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publication date

16 March 2007

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3

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3

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e41

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copyright license

Creative Commons Attribution 4.0 International

16 March 2007

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April 2022 Public Data File from Crossref

copyright status

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Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828695

19 March 2017

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828695

19 March 2017

A novel short consensus repeat-containing molecule is related to human complement factor H

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828695

19 March 2017

A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828695

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828695

19 March 2017

Functional properties of complement factor H-related proteins FHR-3 and FHR-4: binding to the C3d region of C3b and differential regulation by heparin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828695

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828695

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828695

19 March 2017

Atypical haemolytic uraemic syndrome associated with a hybrid complement gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828695

19 March 2017

Hemolytic uremic syndrome: a factor H mutation (E1172Stop) causes defective complement control at the surface of endothelial cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828695

12 September 2017

Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828695

12 September 2017

Atypical haemolytic uraemic syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828695

12 September 2017

Complement dysfunction in hemolytic uremic syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828695

12 September 2017

De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828695

12 September 2017

Anti-Factor H autoantibodies associated with atypical hemolytic uremic syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828695

12 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828695

12 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828695

12 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828695

12 September 2017

The factor H protein family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828695

12 September 2017

The C-terminus of complement regulator Factor H mediates target recognition: evidence for a compact conformation of the native protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/17367211

12 December 2020

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inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PGEN.0030041

1 reference

Consolidated OpenCitations Corpus – April 2017

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OpenCitations bibliographic resource ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

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