A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree (Q33632166)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20142846 AND SRC:MED&resulttype=core&format=json

18 January 2020

title

A splice site mutation in CRYBA1/A3 causing autosomal dominant posterior polar cataract in a Chinese pedigree (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20142846 AND SRC:MED&resulttype=core&format=json

18 January 2020

main subject

posterior polar cataract

1 reference

Zhensheng Gu

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20142846 AND SRC:MED&resulttype=core&format=json

18 January 2020

Baohu Ji

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20142846 AND SRC:MED&resulttype=core&format=json

18 January 2020

Chunling Wan

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20142846 AND SRC:MED&resulttype=core&format=json

18 January 2020

Guang He

4

1 reference

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18 January 2020

Juan Zhang

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20142846 AND SRC:MED&resulttype=core&format=json

18 January 2020

Ming Zhang

6

1 reference

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18 January 2020

Guoyin Feng

7

1 reference

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18 January 2020

Lin He

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20142846 AND SRC:MED&resulttype=core&format=json

18 January 2020

Linghan Gao

9

1 reference

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18 January 2020

publication date

5 February 2010

1 reference

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18 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20142846 AND SRC:MED&resulttype=core&format=json

18 January 2020

volume

16

1 reference

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18 January 2020

page(s)

154-160

1 reference

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Mutation analysis of congenital cataract in a Basotho family identified a new missense allele in CRYBB2.

18 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=2817011

Genetics of crystallins: cataract and beyond.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817011

The EPHA2 gene is associated with cataracts linked to chromosome 1p

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817011

Crystallin gene mutations in Indian families with inherited pediatric 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=2817011

Congenital cataracts and their molecular genetics

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817011

CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817011

Two Chinese families with pulverulent congenital cataracts and deltaG91 CRYBA1 mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817011

Deamidation alters the structure and decreases the stability of human lens betaA3-crystallin

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817011

The PITX3 gene in posterior polar congenital cataract in Australia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817011

Posterior polar cataract is the predominant consequence of a recurrent mutation in the PITX3 gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817011

Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817011

CRYBA3/A1 gene mutation associated with suture-sparing autosomal dominant congenital nuclear cataract: a novel phenotype

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817011

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=2817011

Characterization of the G91del CRYBA1/3-crystallin protein: a cause of human inherited 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=2817011

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817011

A deletion mutation in the ?A1/A3 crystallin gene (CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract 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=2817011

Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817011

Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817011

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=2817011

Classification of Hereditary Cataracts in Children by Linkage Analysis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817011

Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital 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=2817011

A new locus for autosomal dominant posterior polar cataract in Moroccan Jews maps to chromosome 14q22-23.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2817011

A new betaA1-crystallin splice junction mutation in autosomal dominant cataract

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20142846

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A locus for autosomal dominant posterior polar cataract on chromosome 1p

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20142846

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20142846

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20142846 AND SRC:MED&resulttype=core&format=json

18 January 2020

PubMed publication ID

20142846

1 reference