Analysis of rare variants in the CFH gene in patients with the cuticular drusen subtype of age-related macular degeneration (Q35178889)

7 August 2017

title

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

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7 August 2017

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8

Lies H Hoefsloot

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7 August 2017

9

Carel B Hoyng

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7 August 2017

11

Anneke I den Hollander

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7 August 2017

7

Sascha Fauser

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7 August 2017

Maheswara R Duvvari

1

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7 August 2017

Nicole T M Saksens

2

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7 August 2017

Johannes P H van de Ven

3

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7 August 2017

Yvonne de Jong-Hesse

4

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7 August 2017

Tina Schick

5

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7 August 2017

Willy M Nillesen

6

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7 August 2017

Eiko K de Jong

10

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7 August 2017

publication date

15 March 2015

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7 August 2017

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7 August 2017

volume

21

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7 August 2017

page(s)

285-292

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

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360166

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360166

Cuticular drusen: stars in the sky.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360166

Predicting functional effect of human missense mutations using PolyPhen-2.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360166

Association analysis of genetic and environmental risk factors in the cuticular drusen subtype of age-related macular degeneration.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360166

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360166

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360166

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360166

Genes mirror geography within Europe

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360166

Basal laminar drusen caused by compound heterozygous variants in the CFH gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360166

Spontaneous hemolytic uremic syndrome triggered by complement factor H lacking surface recognition domains

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360166

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360166

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360166

Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360166

Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360166

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360166

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360166

The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360166

Complement. First of two parts

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360166

Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360166

The Wisconsin age-related maculopathy grading system

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360166

Clinical evaluation of 3 families with basal laminar drusen caused by novel mutations in the complement factor H gene.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360166

Angiography features of early onset drusen

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360166

Complement factor H polymorphism p.Tyr402His and cuticular Drusen.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360166

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=4360166

Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360166

A rare nonsynonymous sequence variant in C3 is associated with high risk of 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=4360166

His-384 Allotypic Variant of Factor H Associated with Age-related Macular Degeneration Has Different Heparin Binding Properties from the Non-disease-associated Form

15 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4360166

Age-Specific Prevalence and Causes of Blindness and Visual Impairment in an Older Population

15 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25814826

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

[Association study between age-related macular degeneration and R1210C mutation of CFH gene in Chinese population]

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25814826

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

PMC publication ID

4360166

1 reference

7 August 2017

1 reference