(Q36228563)

12 August 2017

Rare Variants in the Functional Domains of Complement Factor H Are Associated With Age-Related Macular Degeneration (English)

1 reference

12 August 2017

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26501415%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Soumya Raychaudhuri

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26501415%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

author name string

Michael P Triebwasser

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26501415%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Yi Yu

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26501415%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Elizabeth C Schramm

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26501415%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Erin K Wagner

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26501415%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Johanna M Seddon

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26501415%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

John P Atkinson

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26501415%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

language of work or name

English

0 references

publication date

1 October 2015

1 reference

Investigative Ophthalmology Visual Science

12 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26501415%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

volume

56

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26501415%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

issue

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26501415%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

page(s)

6873-6878

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26501415%20AND%20SRC:MED&resulttype=core&format=json

Analysis of rare variants in the CFH gene in patients with the cuticular drusen subtype of age-related macular degeneration

5 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627248

Genetic variants in the complement system predisposing to age-related macular degeneration: a review

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627248

Rare complement factor H variant associated with age-related macular degeneration in the Amish

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627248

Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627248

Genetics of atypical hemolytic uremic syndrome (aHUS).

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627248

Nature and nurture- genes and environment- predict onset and progression of macular degeneration.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627248

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627248

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627248

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627248

Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degeneration

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627248

Immunology of age-related macular degeneration

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627248

Seven new loci associated with age-related macular degeneration

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627248

Tissue-specific host recognition by complement factor H is mediated by differential activities of its glycosaminoglycan-binding regions

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627248

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627248

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627248

Rare-variant association testing for sequencing data with the sequence kernel association test

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627248

A framework for variation discovery and genotyping using next-generation DNA sequencing data

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627248

Complement in age-related macular degeneration: a focus on function

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627248

Disease-associated N-terminal complement factor H mutations perturb cofactor and decay-accelerating activities

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627248

Integrative genomics viewer

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627248

Structures of C3b in complex with factors B and D give insight into complement convertase formation

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627248

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627248

Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627248

The pivotal role of the complement system in aging and age-related macular degeneration: hypothesis re-visited

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627248

Atypical hemolytic-uremic syndrome

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627248

Complement regulators and inhibitory proteins

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627248

Plasma complement components and activation fragments: associations with age-related macular degeneration genotypes and phenotypes

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627248

Fast and accurate short read alignment with Burrows-Wheeler transform

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627248

Prediction model for prevalence and incidence of advanced age-related macular degeneration based on genetic, demographic, and environmental variables

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627248

Variation near complement factor I is associated with risk of advanced AMD

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627248

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627248

Complement regulatory genes and hemolytic uremic syndromes

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627248

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627248

Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627248

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627248

Factor H and atypical hemolytic uremic syndrome: mutations in the C-terminus cause structural changes and defective recognition functions

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627248

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627248

Complement factor H polymorphism in age-related macular degeneration

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627248

Complement factor H polymorphism and age-related macular degeneration

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627248

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627248

The amplification loop of the complement pathways.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627248

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

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4627248

5 December 2018

Identifiers

DOI

10.1167/IOVS.15-17432

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26501415%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26501415%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26501415%20AND%20SRC:MED&resulttype=core&format=json