Recombinant Haplotypes Narrow the ARMS2/HTRA1 Association Signal for Age-Related Macular Degeneration. (Q40460645)

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scientific article published on 22 November 2016

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English	Recombinant Haplotypes Narrow the ARMS2/HTRA1 Association Signal for Age-Related Macular Degeneration.	scientific article published on 22 November 2016

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5289859

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27879347%20AND%20SRC:MED&resulttype=core&format=json

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28 March 2020

title

Recombinant Haplotypes Narrow the ARMS2/HTRA1 Association Signal for Age-Related Macular Degeneration (English)

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Europe PubMed Central

PMC publication ID

5289859

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28 March 2020

author

Felix Grassmann

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1

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Europe PubMed Central

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5289859

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27879347%20AND%20SRC:MED&resulttype=core&format=json

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28 March 2020

Bernhard H Weber

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3

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5289859

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27879347%20AND%20SRC:MED&resulttype=core&format=json

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28 March 2020

author name string

Iris M Heid

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2

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5289859

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28 March 2020

International AMD Genomics Consortium (IAMDGC)

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4

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5289859

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language of work or name

English

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publication date

22 November 2016

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5289859

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28 March 2020

published in

Genetics

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Europe PubMed Central

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5289859

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27879347%20AND%20SRC:MED&resulttype=core&format=json

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28 March 2020

volume

205

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5289859

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issue

2

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5289859

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page(s)

919-924

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5289859

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28 March 2020

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Risk- and non-risk-associated variants at the 10q26 AMD locus influence ARMS2 mRNA expression but exclude pathogenic effects due to protein deficiency.

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Age-related macular degeneration-associated variants at chromosome 10q26 do not significantly alter ARMS2 and HTRA1 transcript levels in the human retina.

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22 September 2017

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

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22 September 2017

ARMS2 is a constituent of the extracellular matrix providing a link between familial and sporadic age-related macular degenerations

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Localization of age-related macular degeneration-associated ARMS2 in cytosol, not mitochondria

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Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA

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22 September 2017

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

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

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HTRA1 promoter polymorphism in wet age-related macular degeneration

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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

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Susceptibility genes for age-related maculopathy on chromosome 10q26

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Identifiers

DOI

10.1534/GENETICS.116.195966

1 reference

stated in

Europe PubMed Central

PMC publication ID

5289859

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27879347%20AND%20SRC:MED&resulttype=core&format=json

retrieved

28 March 2020

PMC publication ID

5289859

1 reference

stated in

Europe PubMed Central

PMC publication ID

5289859

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27879347%20AND%20SRC:MED&resulttype=core&format=json

retrieved

28 March 2020

PubMed publication ID

27879347

1 reference

stated in

Europe PubMed Central

PMC publication ID

5289859

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27879347%20AND%20SRC:MED&resulttype=core&format=json

retrieved

28 March 2020

 

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