(Q24655185)

English

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

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scholarly article

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

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author name string

A Arora

1

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P J Minogue

2

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X Liu

3

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M A Reddy

4

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J R Ainsworth

5

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S S Bhattacharya

6

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A R Webster

7

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D M Hunt

8

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L Ebihara

9

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A T Moore

10

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E C Beyer

11

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V M Berthoud

12

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language of work or name

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publication date

January 2006

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Journal of Medical Genetics

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43

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1

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e2

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Global data on visual impairment in the year 2002

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564510

7 April 2017

A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564510

7 April 2017

Connexin46 mutations in autosomal dominant congenital cataract

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564510

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564510

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564510

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564510

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564510

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564510

7 April 2017

Congenital hereditary cataracts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564510

28 September 2017

Exchange of gating properties between rat cx46 and chicken cx45.6.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564510

28 September 2017

Molecular genetic basis of inherited cataract and associated phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564510

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564510

28 September 2017

Plasma membrane channels formed by connexins: their regulation and functions.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564510

28 September 2017

Loss of function and impaired degradation of a cataract-associated mutant connexin50.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564510

28 September 2017

Connexin gene mutations in human genetic diseases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564510

28 September 2017

The role of a conserved proline residue in mediating conformational changes associated with voltage gating of Cx32 gap junctions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564510

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564510

28 September 2017

Distinct behavior of connexin56 and connexin46 gap junctional channels can be predicted from the behavior of their hemi-gap-junctional channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564510

28 September 2017

Lens gap junctions: a structural hypothesis for nonregulated low-resistance intercellular pathways

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564510

28 September 2017

Genetic factors influence cataract formation in alpha 3 connexin knockout mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564510

30 May 2018

Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564510

30 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564510

28 November 2018

Genetic background influences cataractogenesis, but not lens growth deficiency, in Cx50-knockout mice.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564510

28 November 2018

A Gja8 (Cx50) point mutation causes an alteration of alpha 3 connexin (Cx46) in semi-dominant cataracts of Lop10 mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564510

28 November 2018

Molecular mechanism underlying a Cx50-linked congenital cataract.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564510

28 November 2018

Identification of a proline residue as a transduction element involved in voltage gating of gap junctions.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564510

28 November 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16397066

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16397066

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Causes of childhood blindness: results from west Africa, south India and Chile

1 reference

https://pubmed.ncbi.nlm.nih.gov/16397066

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mutation in the connexin 50 (Cx50) gene is a candidate for the No2 mouse cataract

1 reference

https://pubmed.ncbi.nlm.nih.gov/16397066

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16397066

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.2005.034108

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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