Disease mechanisms in late-onset retinal macular degeneration associated with mutation in C1QTNF5. (Q34511566)

2 August 2017

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

1 reference

2 August 2017

1 reference

6

1 reference

2 August 2017

Xinhua Shu

1

1 reference

2 August 2017

Brian Tulloch

2

1 reference

2 August 2017

Alan Lennon

3

1 reference

2 August 2017

Dafni Vlachantoni

4

1 reference

2 August 2017

Xinzhi Zhou

5

1 reference

2 August 2017

Alan F Wright

7

1 reference

2 August 2017

6 April 2006

1 reference

2 August 2017

Human Molecular Genetics

1 reference

2 August 2017

15

1 reference

2 August 2017

10

1 reference

2 August 2017

1680-1689

1 reference

Prevalence of age-related macular degeneration in the United States

2 August 2017

1 reference

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

Drusen in age-related macular degeneration: pathogenesis, natural course, and laser photocoagulation-induced regression

21 January 2018

1 reference

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

Drusen proteome analysis: an approach to the etiology of age-related macular degeneration.

21 January 2018

1 reference

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

Apolipoprotein B in cholesterol-containing drusen and basal deposits of human eyes with age-related maculopathy

21 January 2018

1 reference

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

Genetic influence on early age-related maculopathy: a twin study

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Expression and supramolecular assembly of recombinant alpha1(viii) and alpha2(viii) collagen homotrimers.

21 January 2018

1 reference

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

Cross-regulation of Wnt signaling and cell adhesion

21 January 2018

1 reference

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

Endoplasmic reticulum stress: cell life and death decisions.

21 January 2018

1 reference

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

Quality control in the endoplasmic reticulum

21 January 2018

1 reference

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

Quality Control and Protein Folding in the Secretory Pathway

21 January 2018

1 reference

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

WW domains provide a platform for the assembly of multiprotein networks

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Genetics. Was the Human Genome Project worth the effort?

21 January 2018

1 reference

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

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

1 reference

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

Developmental and tissue expression of Xenopus laevis RPGR.

21 January 2018

1 reference

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

Properties of the extracellular calcium binding module of the proteoglycan testican

21 January 2018

1 reference

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

Proteasome inhibitors: valuable new tools for cell biologists

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

21 January 2018

Identifiers

DOI

10.1093/HMG/DDL091

1 reference

2 August 2017

1 reference