A novel connexin 50 (GJA8) mutation in a Chinese family with a dominant congenital pulverulent nuclear cataract. (Q33323353)

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4 January 2020

title

A novel connexin 50 (GJA8) mutation in a Chinese family with a dominant congenital pulverulent nuclear cataract (English)

1 reference

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4 January 2020

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Ming Yan

1

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4 January 2020

Chenling Xiong

2

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4 January 2020

Shui Qing Ye

3

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4 January 2020

Yongmei Chen

4

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4 January 2020

Min Ke

5

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4 January 2020

Fang Zheng

6

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4 January 2020

Xin Zhou

7

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4 January 2020

publication date

4 March 2008

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4 January 2020

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4 January 2020

volume

14

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4 January 2020

page(s)

418-424

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A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family of Indian origin.

4 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268715

Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268715

A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268715

Molecular genetic basis of inherited cataract and associated phenotypes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268715

A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268715

Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268715

Data analysis on epidemiologic survey of cataract in China

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268715

Molecular genetics of cataract

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268715

A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268715

Targeted ablation of connexin50 in mice results in microphthalmia and zonular pulverulent cataracts.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268715

A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268715

A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268715

Disruption of alpha3 connexin gene leads to proteolysis and cataractogenesis in mice

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268715

Connections with connexins: the molecular basis of direct intercellular signaling

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268715

The human lens intrinsic membrane protein MP70 (Cx50) gene: clonal analysis and chromosome mapping

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268715

Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268715

An efficient and simple method of DNA extraction from whole blood and cell lines to identify infectious agents

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268715

Progressive polymorphic congenital cataract caused by a CRYBB2 mutation in a Chinese family.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268715

A heterozygous transversion of connexin 50 in a family with congenital nuclear cataract in the northeast of China

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268715

Characterization of a mouse Cx50 mutation associated with the No2 mouse cataract.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268715

Mutations in the founder of the MIP gene family underlie cataract development in the mouse.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268715

Cellular localization of gap junction mRNAs in developing rat brain.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268715

Diverse gap junctions modulate distinct mechanisms for fiber cell formation during lens development and cataractogenesis

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268715

Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract

10 December 2018

1 reference

12 December 2020

Molecular genetics of cataract

1 reference

12 December 2020

Immunohistochemical analysis of rat liver using a monoclonal antibody (HAM8) against gap junction

1 reference

12 December 2020

Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin

1 reference

12 December 2020

A missense mutation in the gammaD-crystallin gene CRYGD associated with autosomal dominant congenital cataract in a Chinese family

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18334966%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

PubMed publication ID

18334966

1 reference