Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family (Q35736331)

10 August 2017

title

Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family (English)

1 reference

10 August 2017

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Xiaohui Zhang

1

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10 August 2017

Lina Wang

2

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10 August 2017

Jun Wang

3

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10 August 2017

Bing Dong

4

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10 August 2017

Yang Li

5

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10 August 2017

publication date

25 January 2012

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10 August 2017

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10 August 2017

volume

18

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10 August 2017

page(s)

203-210

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A novel mutation in the connexin 46 (GJA3) gene associated with congenital cataract in a Chinese pedigree

10 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272055

A recurrent mutation in CRYGD is associated with autosomal dominant congenital coralliform cataract in two unrelated Chinese families

27 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272055

Mutation analysis of congenital cataract in a Chinese family identified a novel missense mutation in the connexin 46 gene (GJA3)

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272055

Lens gap junctions in growth, differentiation, and homeostasis.

27 July 2018

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Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families

27 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272055

Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts.

27 July 2018

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Congenital cataracts and their molecular genetics

27 July 2018

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A novel "pearl box" cataract associated with a mutation in the connexin 46 (GJA3) gene

27 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272055

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272055

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272055

Autosomal dominant coralliform cataract related to a missense mutation of the gammaD-crystallin gene.

27 July 2018

1 reference

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Molecular genetic basis of inherited cataract and associated phenotypes

27 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272055

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272055

Human non-synonymous SNPs: server and survey

27 July 2018

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The genetics of childhood cataract

27 July 2018

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272055

Connexin46 mutations in autosomal dominant congenital cataract

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272055

A novel mutation in the GJA3 (connexin46) gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272055

Mutations in connexin genes and disease

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272055

High resolution melting (HRM) analysis for the detection of ER22/23EK, BclI, and N363S polymorphisms of the glucocorticoid receptor gene.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272055

A novel mutation in the connexin 46 (GJA3) gene associated with autosomal dominant congenital cataract in an Indian family.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272055

The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272055

A novel mutation in the connexin 46 gene (GJA3) causes autosomal dominant zonular pulverulent cataract in a Hispanic family

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272055

Novel mutations in GJA3 associated with autosomal dominant congenital cataract in the Indian population

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272055

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272055

A missense mutation in the gammaD crystallin gene (CRYGD) associated with autosomal dominant "coral-like" cataract linked to chromosome 2q.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272055

Connexin46 mutations linked to congenital cataract show loss of gap junction channel function

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272055

GOR method for predicting protein secondary structure from amino acid sequence.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272055

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

25 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22312188

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22312188

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

PMC publication ID

3272055

1 reference

10 August 2017

1 reference