|
Congenital cataract
|
0.700 |
Biomarker
|
disease |
BEFREE |
These results provide evidence that CRYAA is a pathogenic gene for congenital cataracts, congenital cataracts are a clinically and genetically heterogeneous lens condition; at the same time, demonstrates a possible mechanism of action for the mutant gene.
|
20465443 |
2010 |
|
Congenital cataract
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in the CRYAA gene associated with congenital cataract and microphthalmia in a Chinese family.
|
30340470 |
2018 |
|
Congenital cataract
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutation analyses of CC candidate genes by next-generation sequencing (NGS) and Sanger sequencing revealed a novel missense mutation in CRYBB2 (p.V146L) and a deletion mutation in CRYAA (p.116_118del).
|
29259299 |
2017 |
|
Congenital cataract
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A novel disease-causing mutation, c.246_248delCGC (p.117delR), of the CRYAA gene has been identified in a Chinese family with autosomal-type perinuclear congenital cataracts.
|
25729975 |
2015 |
|
Congenital cataract
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The c.61C>T (p.R21W) mutation in CRYAA has been previously reported in a family with congenital cataract and microcornea.
|
23441109 |
2013 |
|
Congenital cataract
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The current study extends those findings to the following crystallin genes involved in some congenital cataracts: CRYAA (R116C), CRYAB (R120G), and CRYGC (T5P).
|
12601044 |
2003 |
|
Congenital cataract
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Two mutations at arginine 21 in the N-terminal domain of αA-crystallin - αA-R21L and αA-R21W have been associated with congenital cataract.
|
29782825 |
2018 |
|
Congenital cataract
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
TA of CRYAB gene might increase congenital cataract risk in children, while GCG of CRYAA gene and GC of CRYAB gene might decrease congenital cataract risk in children.
|
28640093 |
2017 |
|
Congenital cataract
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA.
|
9467006 |
1998 |
|
Congenital cataract
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P.
|
16453125 |
2006 |
|
Nuclear cataract
|
0.520 |
GeneticVariation
|
disease |
BEFREE |
To our knowledge, this is the first case to date in which an Arg116Cys mutation in the CRYAA gene was associated with nuclear cataract and iris coloboma.
|
17296897 |
2007 |
|
Nuclear cataract
|
0.520 |
GeneticVariation
|
disease |
BEFREE |
The rest one, a heterozygous c.34C>T (p.Arg12Cys) mutation in CRYAA, was identified in three patients from a family with nuclear cataract, microcornea with axial elongation.
|
21686328 |
2011 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Mutations in GJA8 and CRYAA were identified in three families with cataract and microcornea.
|
21686328 |
2011 |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
It represents very likely the fourth dominant cataract-causing allele in CRYAA.
|
16862070 |
2006 |