(Q43006704)

12 November 2017

Two novel mutations of connexin genes in Chinese families with autosomal dominant congenital nuclear cataract (English)

1 reference

12 November 2017

0 references

Ma ZW

1

1 reference

12 November 2017

Zheng JQ

2

1 reference

12 November 2017

Li J

3

1 reference

12 November 2017

Li XR

4

1 reference

12 November 2017

Tang X

5

1 reference

12 November 2017

Yuan XY

6

1 reference

12 November 2017

Zhang XM

7

1 reference

12 November 2017

Sun HM

8

1 reference

12 November 2017

language of work or name

English

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publication date

1 November 2005

1 reference

British Journal of Ophthalmology

12 November 2017

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12 November 2017

89

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12 November 2017

11

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12 November 2017

1535-1537

1 reference

A novel missense mutation in the gene for gap-junction protein alpha3 (GJA3) associated with autosomal dominant "nuclear punctate" cataracts linked to chromosome 13q

12 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772944

Connexin disorders of the ear, skin, and lens.

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772944

A novel mutation in GJA3 (connexin46) for autosomal dominant congenital nuclear pulverulent cataract

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772944

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

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772944

Unique and redundant connexin contributions to lens development

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772944

Disruption of Gja8 (alpha8 connexin) in mice leads to microphthalmia associated with retardation of lens growth and lens fiber maturation

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772944

The HMMTOP transmembrane topology prediction server

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772944

Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3)

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772944

Connexin46 mutations in autosomal dominant congenital cataract

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772944

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

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772944

A domain substitution procedure and its use to analyze voltage dependence of homotypic gap junctions formed by connexins 26 and 32

26 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1772944

A novel connexin46 (GJA3) mutation in autosomal dominant congenital nuclear pulverulent cataract

26 May 2018

1 reference

PubMed

12 December 2020

1 reference

12 December 2020

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

1 reference

PubMed

12 December 2020

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

1 reference

PubMed

12 December 2020

Identifiers

DOI

10.1136/BJO.2005.075184

1 reference

12 November 2017

1 reference

12 November 2017

1 reference