(Q28181790)

English

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

scientific article published on November 4, 2003

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scholarly article

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A deletion mutation in the betaA1/A3 crystallin gene ( CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family (English)

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

1 reference

10.1007/S00439-003-1049-7

https://api.crossref.org/works/10.1007/S00439-003-1049-7

28 March 2024

congenital disorder

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human chromosome 17

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14598164

28 March 2024

sequence deletion

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14598164

28 March 2024

1 reference

10.1007/S00439-003-1049-7

https://api.crossref.org/works/10.1007/S00439-003-1049-7

28 March 2024

author name string

Yanhua Qi

1

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Hongyan Jia

2

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Shangzhi Huang

3

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Hui Lin

4

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Jingzhi Gu

5

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Hong Su

6

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Tieying Zhang

7

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Ya Gao

8

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Lijun Qu

9

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Dandan Li

10

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Ying Li

11

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language of work or name

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publication date

January 2004

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4 November 2003

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14598164

28 March 2024

full work available at URL

http://link.springer.com/content/pdf/10.1007/s00439-003-1049-7.pdf

Portable Document Format

1 reference

10.1007/S00439-003-1049-7

https://api.crossref.org/works/10.1007/S00439-003-1049-7

28 March 2024

http://link.springer.com/article/10.1007/s00439-003-1049-7/fulltext.html

1 reference

10.1007/S00439-003-1049-7

https://api.crossref.org/works/10.1007/S00439-003-1049-7

28 March 2024

http://link.springer.com/content/pdf/10.1007/s00439-003-1049-7

1 reference

10.1007/S00439-003-1049-7

https://api.crossref.org/works/10.1007/S00439-003-1049-7

28 March 2024

0 references

114

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2

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192-7

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Clinical and genetic heterogeneity in autosomal dominant cataract

1 reference

https://pubmed.ncbi.nlm.nih.gov/14598164

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/14598164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene

1 reference

https://pubmed.ncbi.nlm.nih.gov/14598164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-ray analysis of beta B2-crystallin and evolution of oligomeric lens proteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/14598164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The elusive role of the N-terminal extension of beta A3- and beta A1-crystallin

1 reference

https://pubmed.ncbi.nlm.nih.gov/14598164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Direct assignment of the human beta B2 and beta B3 crystallin genes to 22q11.2----q12: markers for neurofibromatosis 2

1 reference

https://pubmed.ncbi.nlm.nih.gov/14598164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Construction of a genetic map of human chromosome 17 by use of chromosome-mediated gene transfer

1 reference

https://pubmed.ncbi.nlm.nih.gov/14598164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14598164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract

1 reference

https://pubmed.ncbi.nlm.nih.gov/14598164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Global cataract blindness: the unmet challenge

1 reference

https://pubmed.ncbi.nlm.nih.gov/14598164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract

1 reference

https://pubmed.ncbi.nlm.nih.gov/14598164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Interaction of an altered beta-crystallin with other proteins in the Philly mouse lens

1 reference

https://pubmed.ncbi.nlm.nih.gov/14598164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family

1 reference

https://pubmed.ncbi.nlm.nih.gov/14598164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14598164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2

1 reference

https://pubmed.ncbi.nlm.nih.gov/14598164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of the human beta A2 crystallin gene (CRYBA2): localization of the gene on human chromosome 2 and of the homologous gene on mouse chromosome 1.

1 reference

https://pubmed.ncbi.nlm.nih.gov/14598164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Connexin46 mutations in autosomal dominant congenital cataract

1 reference

https://pubmed.ncbi.nlm.nih.gov/14598164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Crystallin gene expression during rat lens development

1 reference

https://pubmed.ncbi.nlm.nih.gov/14598164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14598164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14598164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Bovine beta-crystallin complementary DNA clones. Alternating proline/alanine sequence of beta B1 subunit originates from a repetitive DNA sequence

1 reference

https://pubmed.ncbi.nlm.nih.gov/14598164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family

1 reference

https://pubmed.ncbi.nlm.nih.gov/14598164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/14598164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14598164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structure of the crystallins

1 reference

https://pubmed.ncbi.nlm.nih.gov/14598164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14598164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14598164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2

1 reference

https://pubmed.ncbi.nlm.nih.gov/14598164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Short-range order of crystallin proteins accounts for eye lens transparency

1 reference

https://pubmed.ncbi.nlm.nih.gov/14598164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14598164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14598164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A superfamily in the mammalian eye lens: the beta/gamma-crystallins

1 reference

https://pubmed.ncbi.nlm.nih.gov/14598164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Assignment of a human beta-crystallin gene to 17cen-q23

1 reference

https://pubmed.ncbi.nlm.nih.gov/14598164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel locus for autosomal dominant nuclear cataract mapped to chromosome 2p12 in a Pakistani family

1 reference

https://pubmed.ncbi.nlm.nih.gov/14598164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alteration of protein-protein interactions of congenital cataract crystallin mutants

1 reference

https://pubmed.ncbi.nlm.nih.gov/14598164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14598164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14598164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14598164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of the human beta-crystallin gene Hu beta A3/A1 reveals ancestral relationships among the beta gamma-crystallin superfamily

1 reference

https://pubmed.ncbi.nlm.nih.gov/14598164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14598164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14598164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Infantile cataracts

1 reference

https://pubmed.ncbi.nlm.nih.gov/14598164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q

1 reference

https://pubmed.ncbi.nlm.nih.gov/14598164

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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