(Q34511566)

2 August 2017

title

Disease mechanisms in late-onset retinal macular degeneration associated with mutation in C1QTNF5. (English)

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2 August 2017

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6

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2 August 2017

Xinhua Shu

1

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2 August 2017

Brian Tulloch

2

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2 August 2017

Alan Lennon

3

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2 August 2017

Dafni Vlachantoni

4

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2 August 2017

Xinzhi Zhou

5

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2 August 2017

Alan F Wright

7

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2 August 2017

publication date

6 April 2006

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2 August 2017

published in

Human Molecular Genetics

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2 August 2017

volume

15

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2 August 2017

issue

10

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2 August 2017

page(s)

1680-1689

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Prevalence of age-related macular degeneration in the United States

2 August 2017

cites work

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Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration

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Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation.

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Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein

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Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6

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Molecular cloning and characterization of MFRP, a novel gene encoding a membrane-type Frizzled-related protein

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The fibrillar collagens, collagen VIII, collagen X and the C1q complement proteins share a similar domain in their C-terminal non-collagenous regions

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Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy

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Sorsby's fundus dystrophy tissue inhibitor of metalloproteinases-3 (TIMP-3) mutants have unimpaired matrix metalloproteinase inhibitory activities, but affect cell adhesion to the extracellular matrix

21 January 2018

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Expression of Sorsby's fundus dystrophy mutations in human retinal pigment epithelial cells reduces matrix metalloproteinase inhibition and may promote angiogenesis

21 January 2018

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Sorsby's fundus dystrophy mutations impair turnover of TIMP-3 by retinal pigment epithelial cells

21 January 2018

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Genetics. Was the Human Genome Project worth the effort?

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An integrated hypothesis that considers drusen as biomarkers of immune-mediated processes at the RPE-Bruch's membrane interface in aging and age-related macular degeneration

21 January 2018

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Developmental and tissue expression of Xenopus laevis RPGR.

21 January 2018

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Properties of the extracellular calcium binding module of the proteoglycan testican

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Proteasome inhibitors: valuable new tools for cell biologists

21 January 2018

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RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin

21 January 2018

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Dominant late-onset retinal degeneration with regional variation of sub-retinal pigment epithelium deposits, retinal function, and photoreceptor degeneration

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDL091

21 January 2018

Identifiers

DOI

10.1093/HMG/DDL091

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2 August 2017

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