Analysis of rare variants in the C3 gene in patients with age-related macular degeneration (Q30439919)

22 August 2017

Analysis of rare variants in the C3 gene in patients with age-related macular degeneration (English)

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22 August 2017

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13

André G Uitterlinden

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Elena B Volokhina

object named as

Elena B Volokhina

5

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Albert Hofman

11

object named as

Albert Hofman

1 reference

22 August 2017

17

Anneke I den Hollander

1 reference

22 August 2017

Maheswara R Duvvari

1

1 reference

22 August 2017

Codrut C Paun

2

1 reference

22 August 2017

Gabriëlle H S Buitendijk

3

1 reference

22 August 2017

Nicole T M Saksens

4

1 reference

22 August 2017

Tina Ristau

6

1 reference

22 August 2017

Frederieke E Schoenmaker-Koller

7

1 reference

22 August 2017

Johannes P H van de Ven

8

1 reference

22 August 2017

Joannes M M Groenewoud

9

1 reference

22 August 2017

Lambertus P W J van den Heuvel

10

1 reference

22 August 2017

Sascha Fauser

12

1 reference

22 August 2017

Caroline C W Klaver

14

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22 August 2017

Carel B Hoyng

15

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22 August 2017

Eiko K de Jong

16

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22 August 2017

language of work or name

English

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publication date

15 April 2014

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22 August 2017

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22 August 2017

9

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22 August 2017

4

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22 August 2017

e94165

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Creative Commons Attribution 4.0 International

22 August 2017

start time

15 April 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Rare variants in CFI, C3 and C9 are associated with high risk of advanced 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=3988049

Identification of a rare coding variant in complement 3 associated with age-related macular degeneration

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988049

Complement factor C3a alters proteasome function in human RPE cells and in an animal model of age-related RPE degeneration

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988049

Complement anaphylatoxin C3a is a potent inducer of embryonic chick retina regeneration

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988049

Best practices and joint calling of the HumanExome BeadChip: the CHARGE Consortium

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988049

Seven new loci associated with age-related macular degeneration

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988049

Novel C3 mutation p.Lys65Gln in aHUS affects complement factor H binding

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988049

A prevalent C3 mutation in aHUS patients causes a direct C3 convertase gain of function

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988049

A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988049

The Rotterdam Study: 2012 objectives and design update

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988049

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988049

A method and server for predicting damaging missense mutations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988049

Mutations in components of complement influence the outcome of Factor I-associated atypical hemolytic uremic syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988049

Genetic profile for five common variants associated with age-related macular degeneration in densely affected families: a novel analytic approach

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988049

Finding the missing heritability of complex diseases

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988049

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988049

The Sequence Alignment/Map format and SAMtools

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988049

Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988049

The spectrum of complement alternative pathway-mediated diseases

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988049

Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988049

Missense variations in the fibulin 5 gene and age-related macular degeneration

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988049

Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988049

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988049

Complement. First of two parts

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988049

Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3988049

Age-Related Macular Degeneration

20 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0094165

A functional variant in the CFI gene confers a high risk of age-related macular degeneration

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0094165

A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0094165

Risk Alleles in CFH and ARMS2 Are Independently Associated with Systemic Complement Activation in Age-related Macular Degeneration

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24736606

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0094165

1 reference

22 August 2017

0 references

1 reference

22 August 2017

1 reference