(Q36499492)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18334953%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

title

Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts (English)

1 reference

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4 January 2020

0 references

Feifeng Li

1

1 reference

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4 January 2020

Shuzhen Wang

2

1 reference

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4 January 2020

Chang Gao

3

1 reference

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4 January 2020

Shiguo Liu

4

1 reference

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4 January 2020

Baojian Zhao

5

1 reference

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4 January 2020

Meng Zhang

6

1 reference

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4 January 2020

Shangzhi Huang

7

1 reference

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4 January 2020

Siquan Zhu

8

1 reference

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4 January 2020

Xu Ma

9

1 reference

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4 January 2020

publication date

4 March 2008

1 reference

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4 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18334953%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

volume

14

1 reference

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4 January 2020

page(s)

378-386

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18334953%20AND%20SRC:MED&resulttype=core&format=json

Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.

4 January 2020

cites work

1 reference

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Conversion and compensatory evolution of the gamma-crystallin genes and identification of a cataractogenic mutation that reverses the sequence of the human CRYGD gene to an ancestral state

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268897

A missense mutation S228P in the CRYBB1 gene causes autosomal dominant congenital cataract

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268897

CRYBB1 mutation associated with congenital cataract and microcornea

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268897

[Ultrastructure and crystallin mutant molecular modeling of hereditary coralliform cataract].

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268897

Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268897

Ageing and vision: structure, stability and function of lens crystallins

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268897

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268897

Molecular genetic basis of inherited cataract and associated phenotypes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268897

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268897

Investigation of crystallin genes in familial cataract, and report of two disease associated mutations.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268897

Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268897

Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268897

A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268897

Link between a novel human gammaD-crystallin allele and a unique cataract phenotype explained by protein crystallography

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268897

The genetics of childhood cataract

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268897

The gamma-crystallins and human cataracts: a puzzle made clearer

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268897

The genetics of cataract: our vision becomes clearer

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268897

Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268897

Sequence analysis of betaA3, betaB3, and betaA4 crystallins completes the identification of the major proteins in young human lens

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268897

Sequence analysis of lens beta-crystallins suggests involvement of calpain in cataract formation.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268897

Relationship between proteins encoded by three human gamma-crystallin genes and distinct polypeptides in the eye lens

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268897

Human gamma-crystallin genes. A gene family on its way to extinction

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268897

Expression and regulation of alpha-, beta-, and gamma-crystallins in mammalian lens epithelial cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268897

Autosomal dominant congenital cataract. Interocular phenotypic variability.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268897

Isolation and characterization of cDNAs encoding beta A2- and beta A4-crystallins: heterologous interactions in the predicted beta A4-beta B2 heterodimer

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268897

A new congenital nuclear cataract caused by a missense mutation in the gammaD-crystallin gene (CRYGD) in a Chinese family.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268897

CRYGD gene analysis in a family with autosomal dominant congenital cataract: evidence for molecular homogeneity and intrafamilial clinical heterogeneity in aculeiform cataract.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268897

The P23T cataract mutation causes loss of solubility of folded gammaD-crystallin.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268897

Special fasciculiform cataract caused by a mutation in the gammaD-crystallin gene.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268897

Localization and screening of autosomal dominant coralliform cataract associated gene

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2268897

21 September 2018

1 reference

12 December 2020

PROBABLE LINKAGE BETWEEN A CONGENITAL CATARACT LOCUS AND THE DUFFY BLOOD GROUP LOCUS

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

Two affected siblings with nuclear cataract associated with a novel missense mutation in the CRYGD gene

1 reference

12 December 2020

[Autosomal dominant congenital golden crystal nuclear cataract caused by a missense mutation in gammaD crystallin gene (CRYGD) in a Chinese family]

1 reference

12 December 2020

[Study on ultrastructure changes and the genetic locus for a special phenotype cataract]

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18334953%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

PubMed publication ID

18334953

1 reference