Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration (Q36031664)

11 August 2017

Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration (English)

1 reference

genome-wide association study

11 August 2017

0 references

6

N. S. Peachey

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20861866

18 July 2024

20

S. K. Iyengar

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20861866

18 July 2024

author name string

L. J. Kopplin

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20861866

18 July 2024

R. P. Igo

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20861866

18 July 2024

Y. Wang

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20861866

18 July 2024

T. A. Sivakumaran

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20861866

18 July 2024

S. A. Hagstrom

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20861866

18 July 2024

P. J. Francis

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20861866

18 July 2024

M. L. Klein

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20861866

18 July 2024

J. P. SanGiovanni

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20861866

18 July 2024

E. Y. Chew

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20861866

18 July 2024

G. J T. Pauer

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20861866

18 July 2024

G. M. Sturgill

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20861866

18 July 2024

T. Joshi

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20861866

18 July 2024

L. Tian

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20861866

18 July 2024

Q. Xi

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20861866

18 July 2024

A. K. Henning

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20861866

18 July 2024

K. E. Lee

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20861866

18 July 2024

R. Klein

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20861866

18 July 2024

B. E K. Klein

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20861866

18 July 2024

language of work or name

1 reference

23 September 2010

1 reference

full work available at URL

11 August 2017

https://europepmc.org/articles/pmc3375062?pdf=render

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20861866

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20861866/?tool=EBI

18 July 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20861866

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20861866/pdf/?tool=EBI

18 July 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20861866

https://europepmc.org/articles/PMC3375062

18 July 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20861866

https://europepmc.org/articles/PMC3375062?pdf=render

18 July 2024

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20861866

https://www.nature.com/articles/gene201039.pdf

18 July 2024

https://api.crossref.org/works/10.1038/GENE.2010.39

1 reference

https://www.nature.com/articles/gene201039

18 July 2024

1 reference

https://api.crossref.org/works/10.1038/GENE.2010.39

18 July 2024

1 reference

11 August 2017

11

1 reference

11 August 2017

8

1 reference

11 August 2017

609-621

1 reference

Analysis of the indel at the ARMS2 3'UTR in age-related macular degeneration

11 August 2017

1 reference

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Genetic and functional dissection of HTRA1 and LOC387715 in age-related macular degeneration

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375062

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

2 October 2017

1 reference

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Mitochondrial DNA variants of respiratory complex I that uniquely characterize haplogroup T2 are associated with increased risk of age-related macular degeneration

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375062

Genome-wide association study identifies eight loci associated with blood pressure

2 October 2017

1 reference

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The complement fitness factor H: role in human diseases and for immune escape of pathogens, like pneumococci

2 October 2017

1 reference

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Myrip uses distinct domains in the cellular activation of myosin VA and myosin VIIA in melanosome transport.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375062

Autophagy and exosomes in the aged retinal pigment epithelium: possible relevance to drusen formation and age-related macular degeneration

2 October 2017

1 reference

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Common variants at 30 loci contribute to polygenic dyslipidemia

2 October 2017

1 reference

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Evaluation of clustering and genotype distribution for replication in genome wide association studies: the age-related eye disease study

2 October 2017

1 reference

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The exosome: a multipurpose RNA-decay machine

2 October 2017

1 reference

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Association of CFH, LOC387715, and HTRA1 polymorphisms with exudative age-related macular degeneration in a northern Chinese population

2 October 2017

1 reference

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The NEI/NCBI dbGAP database: genotypes and haplotypes that may specifically predispose to risk of neovascular age-related macular degeneration

2 October 2017

1 reference

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Inflammation, complement factor h, and age-related macular degeneration: the Multi-ethnic Study of Atherosclerosis

2 October 2017

1 reference

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2 October 2017

1 reference

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Trafficking of vesicular neurotransmitter transporters

2 October 2017

1 reference

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Mitochondrial DNA polymorphism A4917G is independently associated with age-related macular degeneration

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375062

Identification of two independent risk factors for lupus within the MHC in United Kingdom families

2 October 2017

1 reference

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Complement factor H deficiency in aged mice causes retinal abnormalities and visual dysfunction

2 October 2017

1 reference

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The Framingham Heart Study 100K SNP genome-wide association study resource: overview of 17 phenotype working group reports

2 October 2017

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The NCBI dbGaP database of genotypes and phenotypes

2 October 2017

1 reference

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A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375062

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

2 October 2017

1 reference

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375062

A new multipoint method for genome-wide association studies by imputation of genotypes

2 October 2017

1 reference

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The ternary Rab27a-Myrip-Myosin VIIa complex regulates melanosome motility in the retinal pigment epithelium

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375062

Proteomic and phototoxic characterization of melanolipofuscin: correlation to disease and model for its origin

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375062

Neuronal and non-neuronal functions of the AP-3 sorting machinery

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375062

A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375062

HTRA1 promoter polymorphism in wet age-related macular degeneration

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375062

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375062

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

2 October 2017

1 reference

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

2 October 2017

1 reference

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Comprehensive mutational analysis of yeast DEXD/H box RNA helicases involved in large ribosomal subunit biogenesis

2 October 2017

1 reference

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A simplified severity scale for age-related macular degeneration: AREDS Report No. 18

2 October 2017

1 reference

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

2 October 2017

1 reference

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Susceptibility genes for age-related maculopathy on chromosome 10q26

2 October 2017

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375062

Complement factor H polymorphism in age-related macular degeneration

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375062

Complement factor H polymorphism and age-related macular degeneration

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375062

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375062

Accounting for decay of linkage disequilibrium in haplotype inference and missing-data imputation

2 October 2017

1 reference

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Dissection of genomewide-scan data in extended families reveals a major locus and oligogenic susceptibility for age-related macular degeneration

2 October 2017

1 reference

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Abnormal phagocytosis by retinal pigmented epithelium that lacks myosin VIIa, the Usher syndrome 1B protein

2 October 2017

1 reference

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MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375062

AU binding proteins recruit the exosome to degrade ARE-containing mRNAs

2 October 2017

1 reference

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Features of the two gene pairs RD-SKI2W and DOM3Z-RP1 located between complement component genes factor B and C4 at the MHC class III region

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375062

Genomic control for association studies

2 October 2017

1 reference

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A New Statistical Method for Haplotype Reconstruction from Population Data

2 October 2017

1 reference

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The cerebellum-specific Munc13 isoform Munc13-3 regulates cerebellar synaptic transmission and motor learning in mice

2 October 2017

1 reference

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Risk factors associated with age-related macular degeneration. A case-control study in the age-related eye disease study: Age-Related Eye Disease Study Report Number 3

2 October 2017

1 reference

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Drusen associated with aging and age-related macular degeneration contain proteins common to extracellular deposits associated with atherosclerosis, elastosis, amyloidosis, and dense deposit disease

2 October 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375062

2 October 2017

https://api.crossref.org/works/10.1038%2FGENE.2010.39

7 January 2021

inferred from DOI database lookup

Current understanding on the role of retinal pigment epithelium and its pigmentation

1 reference

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Munc13-1 is essential for fusion competence of glutamatergic synaptic vesicles

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375062

Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375062

Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375062

Defective myosin VIIA gene responsible for Usher syndrome type 1B

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375062

Identification and characterization of a human cDNA homologous to yeast SKI2.

2 October 2017

1 reference

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Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375062

Changes in abdominal obesity and age-related macular degeneration: the Atherosclerosis Risk in Communities Study

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375062

Analysis of the linkage of MYRIP and MYO7A to melanosomes by RAB27A in retinal pigment epithelial cells

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375062

Melanin granules of retinal pigment epithelium are connected with the lysosomal degradation pathway

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375062

Genetic variants in three genes and smoking show strong associations with susceptibility to exudative age-related macular degeneration in a Chinese population

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375062

Further assessment of the complement component 2 and factor B region associated with age-related macular degeneration

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375062

Monte Carlo model for studying the effects of melanin concentrations on retina light absorption.

23 September 2018

1 reference

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Population-based study of early age-related macular degeneration: role of the complement factor H Y402H polymorphism in bilateral but not unilateral disease.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375062

Ten-year incidence and progression of age-related maculopathy: the blue Mountains Eye Study.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3375062

A mutation in the silver gene leads to defects in melanosome biogenesis and alterations in the visual system in the zebrafish mutant fading vision

23 September 2018

1 reference

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Identifiers

DOI

10.1038/GENE.2010.39

1 reference

Dimensions Publication ID

11 August 2017

0 references

1 reference

11 August 2017

1 reference