Cataract
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In this study, we screened for polymorphisms in crystallin alpha A (CRYAA) and alpha B (CRYAB) genes in 200 patients over 40 years of age, diagnosed with age-related cataract (ARC; nuclear and cortical cataracts).
|
28146420 |
2017 |
Cataract
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The most promising compound improved lens transparency in the R49C cryAA and R120G cryAB mouse models of hereditary cataract.
|
26542570 |
2015 |
Cataract
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A R54L mutation of CRYAA associated with autosomal dominant nuclear cataracts in a Chinese family.
|
24074001 |
2013 |
Cataract
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This is the first report relating a G→C mutation in CRYAA leading to congenital Y-suture cataract.
|
23288997 |
2012 |
Cataract
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in GJA8 and CRYAA were identified in three families with cataract and microcornea.
|
21686328 |
2011 |
Cataract
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The present study identified a missense mutation (R116H) in the CRYAA gene that causes autosomal dominant congenital anterior polar cataracts in a Chinese family.
|
22065922 |
2011 |
Cataract
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This study identified a mutation in the CRYAA gene causing autosomal dominant nuclear cataracts and some patients show nystagmus or small blepharophimosis clinical features.
|
20465443 |
2010 |
Cataract
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Non-syndromic, hereditary human cataract development is linked to point mutations in the CRYAA and CRYAB genes which encode alphaA and alphaB-crystallin.
|
19860667 |
2009 |
Cataract
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
It is expressed mainly in the lens - mutations in the Cryaa gene lead to recessive or dominant cataracts.
|
19007775 |
2009 |
Cataract
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The purpose of this study was to investigate the biological effects of the cataract-causing G98R mutation on the alphaA-crystallin (CRYAA) protein and to test the capability of chemical chaperone trimethylamine N-oxide (TMAO) to reverse such effects.
|
20029648 |
2009 |
Cataract
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Cataract mutation P20S of alphaB-crystallin impairs chaperone activity of alphaA-crystallin and induces apoptosis of human lens epithelial cells.
|
18343237 |
2008 |
Cataract
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Homologous recombination in embryonic stem cells was performed using a plasmid containing the C to T transition in exon 1 of the cryaa gene. alphaA-R49C heterozygosity led to early cataracts characterized by nuclear opacities.
|
18056999 |
2008 |
Cataract
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Recessive congenital total cataract with microcornea and heterozygote carrier signs caused by a novel missense CRYAA mutation (R54C).
|
17937925 |
2007 |
Cataract
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.
|
17724170 |
2007 |
Cataract
|
0.500 |
Biomarker
|
disease |
BEFREE |
Blood was taken from the proband and his parents, genomic DNA was isolated and some candidate genes for cataract (CRYAA, CRYBB2, GJA8) or macular hypoplasia (OA1, P) or both (PAX6) were analyzed.
|
16453125 |
2006 |
Cataract
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
The mutation observed in CRYAA in the present family highlights the phenotypic heterogeneity of the disorder in relation to the genotype, as an identical mutation has previously been reported in an American family with a different type of cataract.
|
16735993 |
2006 |
Cataract
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
It represents very likely the fourth dominant cataract-causing allele in CRYAA.
|
16862070 |
2006 |
Cataract
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The mutation observed in CRYAA in the present family highlights the phenotypic heterogeneity of the disorder in relation to the genotype, as an identical mutation has previously been reported in an American family with a different type of cataract.
|
16735993 |
2006 |
Cataract
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A nonsense mutation in the CRYAA gene causes autosomal recessive cataract in one family.
|
11006246 |
2000 |
Cataract
|
0.500 |
Biomarker
|
disease |
CTD_human |
Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA.
|
9467006 |
1998 |
Cataract
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|