A hybrid CFHR3-1 gene causes familial C3 glomerulopathy. (Q36050943)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22626820%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

title

A hybrid CFHR3-1 gene causes familial C3 glomerulopathy (English)

1 reference

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Elena Goicoechea de Jorge

2 February 2020

author

3

1 reference

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2 February 2020

Matthew C Pickering

11

1 reference

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2 February 2020

author name string

Talat H Malik

1

1 reference

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2 February 2020

Peter J Lavin

2

1 reference

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2 February 2020

Katherine A Vernon

4

1 reference

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2 February 2020

Kirsten L Rose

5

1 reference

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2 February 2020

Mitali P Patel

6

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2 February 2020

Marcel de Leeuw

7

1 reference

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2 February 2020

John J Neary

8

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2 February 2020

Peter J Conlon

9

1 reference

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2 February 2020

Michelle P Winn

10

1 reference

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2 February 2020

publication date

24 May 2012

1 reference

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Journal of the American Society of Nephrology

2 February 2020

published in

1 reference

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2 February 2020

volume

23

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2 February 2020

page(s)

1155-1160

1 reference

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2 February 2020

issue

7

1 reference

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A novel hybrid CFH/CFHR3 gene generated by a microhomology-mediated deletion in familial atypical hemolytic uremic syndrome

2 February 2020

cites work

1 reference

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Genome-wide association study identifies susceptibility loci for IgA nephropathy

2 October 2017

1 reference

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An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD)

2 October 2017

1 reference

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Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3380655

C3 glomerulopathy: a new classification

2 October 2017

1 reference

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Constitutional translocation breakpoint mapping by genome-wide paired-end sequencing identifies HACE1 as a putative Wilms tumour susceptibility gene

2 October 2017

1 reference

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Computational methods for discovering structural variation with next-generation sequencing

2 October 2017

1 reference

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Translational mini-review series on complement factor H: genetics and disease associations of human complement factor H.

2 October 2017

1 reference

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Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration: characterization, ethnic distribution and evolutionary implications

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3380655

Atypical haemolytic uraemic syndrome associated with a hybrid complement gene

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3380655

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3380655

Human factor H-related protein 5 has cofactor activity, inhibits C3 convertase activity, binds heparin and C-reactive protein, and associates with lipoprotein.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3380655

Linkage of a gene causing familial membranoproliferative glomerulonephritis type III to chromosome 1

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3380655

Familial membranoproliferative glomerulonephritis type III

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3380655

2 October 2017

1 reference

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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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3380655

Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3380655

5 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22626820

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1681/ASN.2012020166

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22626820%20AND%20SRC:MED&resulttype=core&format=json

release_oso3zesrsvbynk35k3b7xo3ble

2 February 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/oso3zesrsvbynk35k3b7xo3ble

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22626820%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

1 reference