Phenotypic Characterization of Complement Factor H R1210C Rare Genetic Variant in Age-Related Macular Degeneration (Q38423796)

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scientific article published on July 2015

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English	Phenotypic Characterization of Complement Factor H R1210C Rare Genetic Variant in Age-Related Macular Degeneration	scientific article published on July 2015

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instance of

scholarly article

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stated in

Europe PubMed Central

PMC publication ID

6516461

retrieved

30 June 2019

reference URL

http://europepmc.org/abstract/PMC/6516461

title

Phenotypic Characterization of Complement Factor H R1210C Rare Genetic Variant in Age-Related Macular Degeneration (English)

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stated in

Europe PubMed Central

PMC publication ID

6516461

retrieved

30 June 2019

reference URL

http://europepmc.org/abstract/PMC/6516461

author name string

Daniela Ferrara

series ordinal

1

1 reference

stated in

Europe PubMed Central

PMC publication ID

6516461

retrieved

30 June 2019

reference URL

http://europepmc.org/abstract/PMC/6516461

Johanna M Seddon

series ordinal

2

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stated in

Europe PubMed Central

PMC publication ID

6516461

retrieved

30 June 2019

reference URL

http://europepmc.org/abstract/PMC/6516461

language of work or name

English

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publication date

1 July 2015

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Europe PubMed Central

PMC publication ID

6516461

retrieved

30 June 2019

reference URL

http://europepmc.org/abstract/PMC/6516461

number of pages

7

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inferred from page(s)

published in

JAMA Ophthalmology

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stated in

Europe PubMed Central

PMC publication ID

6516461

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30 June 2019

reference URL

http://europepmc.org/abstract/PMC/6516461

volume

133

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stated in

Europe PubMed Central

PMC publication ID

6516461

retrieved

30 June 2019

reference URL

http://europepmc.org/abstract/PMC/6516461

issue

7

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stated in

Europe PubMed Central

PMC publication ID

6516461

retrieved

30 June 2019

reference URL

http://europepmc.org/abstract/PMC/6516461

page(s)

785-791

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stated in

Europe PubMed Central

PMC publication ID

6516461

retrieved

30 June 2019

reference URL

http://europepmc.org/abstract/PMC/6516461

cites work

The molecular basis of familial hemolytic uremic syndrome: mutation analysis of factor H gene reveals a hot spot in short consensus repeat 20.

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/25880396

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12 December 2020

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inferred from PubMed ID database lookup

Structure and composition of drusen associated with glomerulonephritis: implications for the role of complement activation in drusen biogenesis.

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/25880396

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12 December 2020

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inferred from PubMed ID database lookup

Structural and functional characterization of factor H mutations associated with atypical hemolytic uremic syndrome

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/25880396

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12 December 2020

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inferred from PubMed ID database lookup

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

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/25880396

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12 December 2020

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Haemolytic uraemic syndrome and mutations of the factor H gene: a registry-based study of German speaking countries

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/25880396

retrieved

12 December 2020

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inferred from PubMed ID database lookup

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

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/25880396

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12 December 2020

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inferred from PubMed ID database lookup

Complement factor H polymorphism in age-related macular degeneration

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/25880396

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12 December 2020

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inferred from PubMed ID database lookup

Membranoproliferative glomerulonephritis type II (dense deposit disease): an update

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/25880396

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/25880396

retrieved

12 December 2020

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inferred from PubMed ID database lookup

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/25880396

retrieved

12 December 2020

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inferred from PubMed ID database lookup

Evaluation of the clinical age-related maculopathy staging system

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/25880396

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/25880396

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/25880396

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/25880396

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Extension of the rank sum test for clustered data: two-group comparisons with group membership defined at the subunit level

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/25880396

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/25880396

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The complement factor H R1210C mutation is associated with atypical hemolytic uremic syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/25880396

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/25880396

retrieved

12 December 2020

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inferred from PubMed ID database lookup

Peripheral retinal drusen and reticular pigment: association with CFHY402H and CFHrs1410996 genotypes in family and twin studies

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/25880396

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12 December 2020

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The spectrum of phenotypes caused by variants in the CFH gene.

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/25880396

retrieved

12 December 2020

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inferred from PubMed ID database lookup

The binding of factor H to a complex of physiological polyanions and C3b on cells is impaired in atypical hemolytic uremic syndrome.

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/25880396

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/25880396

retrieved

12 December 2020

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inferred from PubMed ID database lookup

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

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/25880396

retrieved

12 December 2020

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inferred from PubMed ID database lookup

Prevalence and significance of subretinal drusenoid deposits (reticular pseudodrusen) in age-related macular degeneration

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/25880396

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/25880396

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Grading diabetic retinopathy from stereoscopic color fundus photographs--an extension of the modified Airlie House classification. ETDRS report number 10. Early Treatment Diabetic Retinopathy Study Research Group

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/25880396

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/25880396

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/25880396

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Age-related macular degeneration

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/25880396

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complement genes strongly predict recurrence and graft outcome in adult renal transplant recipients with atypical hemolytic and uremic syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/25880396

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/25880396

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Seven new loci associated with age-related macular degeneration

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/25880396

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/25880396

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cuticular drusen: stars in the sky.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/25880396

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/25880396

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/25880396

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/25880396

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Atypical hemolytic uremic syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/25880396

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Progress on retinal image analysis for age related macular degeneration

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/25880396

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/25880396

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Three new genetic loci (R1210C in CFH, variants in COL8A1 and RAD51B) are independently related to progression to advanced macular degeneration

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/25880396

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/25880396

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/25880396

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Risk Prediction for Progression of Macular Degeneration: 10 Common and Rare Genetic Variants, Demographic, Environmental, and Macular Covariates

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/25880396

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adult vitelliform macular detachment occurring in patients with basal laminar drusen

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/25880396

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An international classification and grading system for age-related maculopathy and age-related macular degeneration. The International ARM Epidemiological Study Group

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/25880396

retrieved

12 December 2020

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inferred from PubMed ID database lookup

Identifiers

DOI

10.1001/JAMAOPHTHALMOL.2015.0814

1 reference

stated in

Europe PubMed Central

PMC publication ID

6516461

retrieved

30 June 2019

reference URL

http://europepmc.org/abstract/PMC/6516461

PMC publication ID

6516461

1 reference

stated in

Europe PubMed Central

PMC publication ID

6516461

retrieved

30 June 2019

reference URL

http://europepmc.org/abstract/PMC/6516461

PubMed publication ID

25880396

1 reference

stated in

Europe PubMed Central

PMC publication ID

6516461

retrieved

30 June 2019

reference URL

http://europepmc.org/abstract/PMC/6516461

 

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