An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD) (Q28293350)

9

Peter F Zipfel

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Christine Skerka

11

Christine Skerka

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Bernhard H Weber

10

Bernhard H F Weber

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Nadine Lauer

2

Nadine Lauer

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Claudia N Keilhauer

5

Claudia N Keilhauer

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Martin Oppermann

6

Martin Oppermann

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author name string

Andrea Hartmann

3

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Selina Stippa

4

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Manoj K Pandey

7

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Jörg Köhl

2002 global update of available data on visual impairment: a compilation of population-based prevalence studies

8

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language of work or name

English

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publication date

1 December 2010

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published in

Human Molecular Genetics

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volume

19

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page(s)

4694-704

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issue

23

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cites work

1 reference

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Complement factor H polymorphism and age-related macular degeneration

21 January 2018

1 reference

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

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDQ399

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

21 January 2018

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Complement factor H polymorphism in age-related macular degeneration

21 January 2018

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CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses

21 January 2018

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Defective complement control of factor H (Y402H) and FHL-1 in age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ399

Biochemical analysis of a common human polymorphism associated with age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ399

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ399

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

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ399

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

21 January 2018

1 reference

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Anti factor H autoantibodies block C-terminal recognition function of factor H in hemolytic uremic syndrome

21 January 2018

1 reference

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Platelet-associated complement factor H in healthy persons and patients with atypical HUS.

21 January 2018

1 reference

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A radiation hybrid map of complement factor H and factor H-related genes

21 January 2018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ399

Complement factor H related proteins in immune diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ399

Plasma lipopolysaccharide-binding protein is found associated with a particle containing apolipoprotein A-I, phospholipid, and factor H-related proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ399

Haplotypes in the complement factor H (CFH) gene: associations with drusen and advanced age-related macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ399

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

21 January 2018

1 reference

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Systemic complement activation in age-related macular degeneration

21 January 2018

1 reference

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Characterization of complement factor H-related (CFHR) proteins in plasma reveals novel genetic variations of CFHR1 associated with atypical hemolytic uremic syndrome

21 January 2018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ399

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ399

Functional properties of complement factor H-related proteins FHR-3 and FHR-4: binding to the C3d region of C3b and differential regulation by heparin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ399

Structure of complement fragment C3b-factor H and implications for host protection by complement regulators

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ399

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ399

Factor H mediated cell surface protection from complement is critical for the survival of PNH erythrocytes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ399

Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ399

PLINK: a tool set for whole-genome association and population-based linkage analyses

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDQ399

Haploview: analysis and visualization of LD and haplotype maps

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ399

Likelihood-based association analysis for nuclear families and unrelated subjects with missing genotype data

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ399