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CRYAA gene

Known as: CRYSTALLIN, ALPHA-1, CRYA1, crystallin alpha A 
National Institutes of Health

Related topics

Related topics

2 relations
CATARACT, AUTOSOMAL RECESSIVE, EARLY-ONSET, PULVERULENTalpha-Crystallin A Chain

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2018
Highly Cited
2018
Circular RNA HIPK3 regulates human lens epithelial cells proliferation and apoptosis by targeting the miR-193a/CRYAA axis.
Highly Cited
2015
Highly Cited
2015
Pharmacological chaperone for α-crystallin partially restores transparency in cataract models
A visionary approach to transparency Cataracts are the most common cause of vision loss, especially in our ever-increasing… 
Review
2012
Review
2012
sHSP in the eye lens: crystallin mutations, cataract and proteostasis.
Highly Cited
2008
Highly Cited
2008
Crystallin gene mutations in Indian families with inherited pediatric cataract
Purpose Pediatric cataract is the most common form of treatable childhood blindness and is both clinically and genetically… 
Highly Cited
2007
Highly Cited
2007
Recessive congenital total cataract with microcornea and heterozygote carrier signs caused by a novel missense CRYAA mutation (R54C).
Highly Cited
2007
Highly Cited
2007
Genome-wide analysis and expression profiling of the small heat shock proteins in zebrafish.
Highly Cited
2006
Highly Cited
2006
Identification of a novel, putative cataract-causing allele in CRYAA (G98R) in an Indian family.
PURPOSE The aim of the present study was to investigate the molecular basis underlying a nonsyndromic presenile autosomal… 
Highly Cited
2003
Highly Cited
2003
Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q
Hereditary cataract is a clinically and genetically heterogeneous lens disease that accounts for a significant proportion of… 
Highly Cited
2000
Highly Cited
2000
A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family.
PURPOSE To identify the genetic defect causing autosomal recessive cataract in two inbred families. METHODS Linkage analysis… 
Highly Cited
1998
Highly Cited
1998
Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA.
Congenital cataracts are a common major abnormality of the eye that frequently cause blindness in infants. At least a third of… 
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