Copy number variation in the complement factor H-related genes and age-related macular degeneration (Q35166647)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21850184 AND SRC:MED&resulttype=core&format=json

11 February 2020

title

Copy number variation in the complement factor H-related genes and age-related macular degeneration (English)

1 reference

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11 February 2020

1 reference

2

Nirubol Tosakulwong

1 reference

PubMed publication ID

6 August 2017

Katharina E Kubista

1

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11 February 2020

Yanhong Wu

3

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11 February 2020

Euijung Ryu

4

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11 February 2020

Jaime L Roeder

5

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11 February 2020

Laura A Hecker

6

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11 February 2020

Keith H Baratz

7

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11 February 2020

William L Brown

8

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11 February 2020

Albert O Edwards

9

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11 February 2020

Nirubol Tosakulwong

2

1 reference

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11 February 2020

publication date

6 August 2011

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11 February 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21850184 AND SRC:MED&resulttype=core&format=json

11 February 2020

volume

17

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11 February 2020

page(s)

2080-2092

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

11 February 2020

cites work

1 reference

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

13 July 2018

1 reference

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Associations of CFHR1-CFHR3 deletion and a CFH SNP to age-related macular degeneration are not independent

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156785

Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC)

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156785

Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome

13 July 2018

1 reference

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Genetic control of the alternative pathway of complement in humans and age-related macular degeneration

13 July 2018

1 reference

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The disease-protective complement factor H allotypic variant Ile62 shows increased binding affinity for C3b and enhanced cofactor activity

13 July 2018

1 reference

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The spectrum of ocular phenotypes caused by mutations in the BEST1 gene

13 July 2018

1 reference

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Genetic analysis of complement factor H related 5, CFHR5, in patients with age-related macular degeneration.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156785

Functional basis of protection against age-related macular degeneration conferred by a common polymorphism in complement factor B

13 July 2018

1 reference

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Common variation in the SERPING1 gene is not associated with age-related macular degeneration in two independent groups of subjects.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156785

Evaluation of clustering and genotype distribution for replication in genome wide association studies: the age-related eye disease study

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156785

Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156785

The NEI/NCBI dbGAP database: genotypes and haplotypes that may specifically predispose to risk of neovascular age-related macular degeneration

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156785

Probe-specific mixed-model approach to detect copy number differences using multiplex ligation-dependent probe amplification (MLPA).

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156785

Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156785

Variation in complement factor 3 is associated with risk of age-related macular degeneration

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156785

Complement C3 variant and the risk of age-related macular degeneration

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156785

Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European A

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156785

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156785

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156785

Global variation in copy number in the human genome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156785

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156785

CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156785

A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156785

Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156785

Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans

13 July 2018

1 reference

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Fine-scale structural variation of the human genome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156785

A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156785

Complement factor H polymorphism in age-related macular degeneration

13 July 2018

1 reference

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Complement factor H polymorphism and age-related macular degeneration

13 July 2018

1 reference

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Complement factor H variant increases the risk of age-related macular degeneration

13 July 2018

1 reference

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The human complement factor H: functional roles, genetic variations and disease associations

13 July 2018

1 reference

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The epidemiology of age-related macular degeneration

13 July 2018

1 reference

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13 July 2018

1 reference

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156785

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156785

The Wisconsin age-related maculopathy grading system

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156785

Contribution of copy number variation in the regulation of complement activation locus to development of age-related macular degeneration.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156785

Complement component 3 (C3) haplotypes and risk of advanced age-related macular degeneration.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156785

Multiplex ligation-dependent probe amplification analysis on capillary electrophoresis instruments for a rapid gene copy number study.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156785

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156785

Evidence for an influence of chemokine ligand 3-like 1 (CCL3L1) gene copy number on susceptibility to rheumatoid arthritis

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3156785

Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration

16 November 2018

1 reference

12 December 2020

Designing a simple multiplex ligation-dependent probe amplification (MLPA) assay for rapid detection of copy number variants in the genome

1 reference

12 December 2020

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12 December 2020

Molecular basis of C-reactive protein binding and modulation of complement activation by factor H-related protein 4

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21850184 AND SRC:MED&resulttype=core&format=json

11 February 2020

PubMed publication ID

21850184

1 reference