(Q24295954)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14512969%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14512969%20AND%20SRC:MED&resulttype=core&format=json

negative regulation of apoptotic process

19 December 2019

main subject

1 reference

GOA release 2020-03-11

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14512969%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

Usha P. Andley

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14512969%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

author name string

Alan Shiels

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14512969%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

language of work or name

English

0 references

publication date

1 October 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14512969%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

number of pages

10

1 reference

European Journal of Human Genetics

inferred from page(s)

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14512969%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

volume

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14512969%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

page(s)

784-793

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14512969%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

issue

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14512969%20AND%20SRC:MED&resulttype=core&format=json

Racial differences in the cause-specific prevalence of blindness in east Baltimore

19 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201046

A novel form of "central pouchlike" cataract, with sutural opacities, maps to chromosome 15q21-22.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201046

A progressive early onset cataract gene maps to human chromosome 17q24.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201046

An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201046

A progressive autosomal recessive cataract locus maps to chromosome 9q13-q22.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201046

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201046

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201046

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201046

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201046

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201046

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201046

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201046

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201046

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201046

Connexin46 mutations in autosomal dominant congenital cataract

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201046

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201046

Functional impairment of lens aquaporin in two families with dominantly inherited cataracts

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201046

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201046

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201046

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201046

A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201046

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201046

A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, "Osaka," in Asians

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201046

The function of alpha-crystallin in vision

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201046

A comprehensive genetic map of the human genome based on 5,264 microsatellites

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201046

Strategies for multilocus linkage analysis in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201046

Cloning, expression, and chaperone-like activity of human alphaA-crystallin

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201046

A pseudo-exon in the functional human alpha A-crystallin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201046

Detecting polymorphisms and mutations in candidate genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201046

The molecular chaperone alphaA-crystallin enhances lens epithelial cell growth and resistance to UVA stress

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201046

Differential protective activity of alpha A- and alphaB-crystallin in lens epithelial cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201046

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201046

Targeted disruption of the mouse alpha A-crystallin gene induces cataract and cytoplasmic inclusion bodies containing the small heat shock protein alpha B-crystallin

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201046

The R116C mutation in alpha A-crystallin diminishes its protective ability against stress-induced lens epithelial cell apoptosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201046

Structural and functional changes in the alpha A-crystallin R116C mutant in hereditary cataracts

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201046

Inherent toxicity of aggregates implies a common mechanism for protein misfolding diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201046

Folding pattern of the alpha-crystallin domain in alphaA-crystallin determined by site-directed spin labeling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201046

Polyglutamine pathogenesis: emergence of unifying mechanisms for Huntington's disease and related disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201046

Altered aggregation properties of mutant gamma-crystallins cause inherited cataract

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201046

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201046

7 January 2021

Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201046

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201046

7 January 2021

A locus for autosomal dominant anterior polar cataract on chromosome 17p

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201046

7 January 2021

Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201046

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201046

7 January 2021

Structural and functional consequences of the mutation of a conserved arginine residue in alphaA and alphaB crystallins

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201046

7 January 2021

Mutation of R116C results in highly oligomerized alpha A-crystallin with modified structure and defective chaperone-like function

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201046

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201046

2 references

Consolidated OpenCitations Corpus – April 2017

661915

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14512969%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

19 December 2019

1024512575

0 references

661915

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

661915