(Q34289655)

1 August 2017

Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy (English)

1 reference

Cadherin related family member 1

1 August 2017

1 reference

photoreceptor cell maintenance

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author name string

E Ostergaard

1

1 reference

1 August 2017

M Batbayli

2

1 reference

1 August 2017

M Duno

3

1 reference

1 August 2017

K Vilhelmsen

4

1 reference

1 August 2017

T Rosenberg

5

1 reference

1 August 2017

language of work or name

English

0 references

publication date

30 August 2010

1 reference

Journal of Medical Genetics

1 August 2017

1 reference

1 August 2017

47

1 reference

1 August 2017

665-669

1 reference

1 August 2017

10

1 reference

Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice

1 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976051

Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976051

Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976051

Protocadherin-21 (PCDH21), a candidate gene for human retinal dystrophies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976051

Proteolytic shedding of the extracellular domain of photoreceptor cadherin. Implications for outer segment assembly

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976051

PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976051

A photoreceptor-specific cadherin is essential for the structural integrity of the outer segment and for photoreceptor survival

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976051

Identification of three novel non-classical cadherin genes through comprehensive analysis of large cDNAs.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976051

Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976051

Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976051

Molecular cloning of a novel membrane glycoprotein, pal, specifically expressed in photoreceptor cells of the retina and containing leucine-rich repeat

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976051

Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976051

Alström syndrome. Report of 22 cases and literature review.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976051

Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976051

Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotype

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976051

Linkage disequilibrium and demographic history of the isolated population of the Faroe Islands

28 October 2018

1 reference

12 December 2020

High incidence of cystic fibrosis on the Faroe Islands: a molecular and genealogical study

1 reference

12 December 2020

easyLINKAGE: a PERL script for easy and automated two-/multi-point linkage analyses

1 reference

12 December 2020

Structure of the cadherin-related neuronal receptor/protocadherin-alpha first extracellular cadherin domain reveals diversity across cadherin families

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2009.069120

1 reference

1 August 2017

1 reference

1 August 2017

1 reference