|
CATARACT 4, MULTIPLE TYPES
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel CRYGD mutation (p.Trp43Arg) causing autosomal dominant congenital cataract in a Chinese family.
|
21031598 |
2011 |
|
CATARACT 4, MULTIPLE TYPES
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Conversion and compensatory evolution of the gamma-crystallin genes and identification of a cataractogenic mutation that reverses the sequence of the human CRYGD gene to an ancestral state.
|
17564961 |
2007 |
|
CATARACT 4, MULTIPLE TYPES
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Two affected siblings with nuclear cataract associated with a novel missense mutation in the CRYGD gene.
|
16943771 |
2006 |
|
CATARACT 4, MULTIPLE TYPES
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Decrease in protein solubility and cataract formation caused by the Pro23 to Thr mutation in human gamma D-crystallin.
|
15709761 |
2005 |
|
CATARACT 4, MULTIPLE TYPES
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts.
|
12676897 |
2003 |
|
CATARACT 4, MULTIPLE TYPES
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts.
|
12011157 |
2002 |
|
CATARACT 4, MULTIPLE TYPES
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Crystal cataracts: human genetic cataract caused by protein crystallization.
|
11371638 |
2001 |
|
CATARACT 4, MULTIPLE TYPES
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Link between a novel human gammaD-crystallin allele and a unique cataract phenotype explained by protein crystallography.
|
10915766 |
2000 |
|
CATARACT 4, MULTIPLE TYPES
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular basis of a progressive juvenile-onset hereditary cataract.
|
10688888 |
2000 |
|
CATARACT 4, MULTIPLE TYPES
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The gamma-crystallins and human cataracts: a puzzle made clearer.
|
10521291 |
1999 |
|
CATARACT 4, MULTIPLE TYPES
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene.
|
9927684 |
1999 |
|
CATARACT 4, MULTIPLE TYPES
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
CATARACT, CRYSTALLINE ACULEIFORM
|
|
0.700 |
CausalMutation
|
CLINVAR |
The gamma-crystallins and human cataracts: a puzzle made clearer.
|
10521291 |
1999 |
|
Cataract
|
|
0.030 |
GeneticVariation
|
BEFREE |
In a nutshell, the increased surface hydrophobicity could be the cause of self-aggregation of mutant R58H leading to aculeiform cataract.
|
29532225 |
2018 |
|
Cataract
|
|
0.030 |
GeneticVariation
|
BEFREE |
Interestingly, a mutation of different codon, i.e., p.Arg58His in CRYGD has been reported to be linked with aculeiform cataract in four different families; two from Switzerland, one from Macedonia and in a Mexican family.
|
22669729 |
2012 |
|
Cataract
|
|
0.030 |
GeneticVariation
|
BEFREE |
The R58H mutation described in this Mexican family is identical to that demonstrated previously in three unrelated families with aculeiform cataract, suggesting that this type of cataract has a specific molecular basis represented by the Arg to His change at residue 58 of CRYGD.
|
16030500 |
2005 |