(Q36572660)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18432316%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

title

A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract (English)

1 reference

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6 January 2020

0 references

Juhua Yang

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18432316%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Yihua Zhu

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18432316%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Feng Gu

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18432316%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Xiang He

4

1 reference

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6 January 2020

Zongfu Cao

5

1 reference

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6 January 2020

Xuexi Li

6

1 reference

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6 January 2020

Yi Tong

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18432316%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Xu Ma

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18432316%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

publication date

18 April 2008

1 reference

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6 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18432316%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

volume

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18432316%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

page(s)

727-731

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18432316%20AND%20SRC:MED&resulttype=core&format=json

Two Chinese families with pulverulent congenital cataracts and deltaG91 CRYBA1 mutations

6 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=2324115

Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 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=2324115

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=2324115

Homozygous CRYBB1 deletion mutation underlies autosomal recessive 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=2324115

Genetic origins of 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=2324115

CRYBA4, a novel human cataract gene, is also involved in microphthalmia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2324115

Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2324115

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=2324115

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=2324115

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2324115

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=2324115

Characterization of the G91del CRYBA1/3-crystallin protein: a cause of human inherited 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=2324115

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2324115

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=2324115

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2324115

Association behaviour of human betaB1-crystallin and its truncated forms

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2324115

Genetic heterogeneity of the Coppock-like cataract: a mutation in CRYBB2 on chromosome 22q11.2

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2324115

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=2324115

Progressive juvenile-onset punctate cataracts caused by 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=2324115

Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-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=2324115

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=2324115

The crystallins: genes, proteins and diseases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2324115

Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2324115

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=2324115

Assignment of the zeta-crystallin gene (CRYZ) to human chromosome 1p22-p31 and identification of restriction fragment length polymorphisms

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2324115

Lens crystallins: the evolution and expression of proteins for a highly specialized tissue

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2324115

Deletion mutation in an eye lens beta-crystallin. An animal model for inherited 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=2324115

A novel mutation in major intrinsic protein of the lens gene (MIP) underlies autosomal dominant cataract in a Chinese family

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2324115

Progressive polymorphic congenital cataract caused by a CRYBB2 mutation in a Chinese family.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2324115

Mutation analysis of congenital cataracts in Indian families: identification of SNPS and a new causative allele in CRYBB2 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=2324115

Effects of controlled mutations on the N- and C-terminal extensions of chick lens beta B1 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=2324115

Dimerization of beta B2-crystallin: the role of the linker peptide and the N- and C-terminal extensions

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2324115

Gene conversion mutation in crystallin, beta-B2 (CRYBB2) in a Chilean family with autosomal dominant cataract

21 September 2018

1 reference

12 December 2020

Interaction and biophysical properties of human lens Q155* betaB2-crystallin mutant

1 reference

12 December 2020

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

1 reference

12 December 2020

[Autosomal dominant congenital nuclear cataract caused by a deletion mutation in the beta A1-crystallin gene]

1 reference

12 December 2020

The molecular structure and stability of the eye lens: X-ray analysis of γ-crystallin II

1 reference

12 December 2020

Primary gene products of bovine beta-crystallin and reassociation behavior of its aggregates

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18432316%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

1 reference