Cataract
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
In mice, missense mutations and homozygous Gja8 deletions lead to smaller lenses and microphthalmia in addition to cataract, suggesting that Gja8 may play a role in both lens development and ocular growth.
|
29464339 |
2019 |
Cataract
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Because the expression of Cx46fs380 leads to decreased gap junctional coupling and formation of calcium precipitates, we studied Cx50D47A lenses to test whether Cx50 mutants also cause cataracts due to calcium precipitation.
|
31117126 |
2019 |
Cataract
|
0.500 |
Biomarker
|
disease |
BEFREE |
The results showed that GJA8 may participate in autophagy to maintain the intracellular environment, which may be a novel mechanism for cataract formation induced by GJA8.
|
30349978 |
2018 |
Cataract
|
0.500 |
Biomarker
|
disease |
BEFREE |
Taken together, these data suggest that the novel insert mutation in the TM2 domain of Cx50 protein, which impairs its trafficking to the cell membrane and gap-junction function, is associated with the cataract formation in this Chinese pedigree.
|
29489419 |
2018 |
Cataract
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Exome sequencing identifies a novel mutation in GJA8 associated with inherited cataract in a Chinese family.
|
27785597 |
2017 |
Cataract
|
0.500 |
Biomarker
|
disease |
BEFREE |
The deletion, concerned with an in-frame deletion of 5 amino acid residues in a highly evolutionarily conserved region within the cytoplasmic loop domain of the gap junction channel protein connexin 50 (Cx50), was in full cosegregation with the cataract phenotypes in the family but not found in 1100 control exomes.
|
26996484 |
2016 |
Cataract
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In this study, a cataract model with GJA8 gene knockout was developed via co-injection of Cas9/sgRNA mRNA into rabbit zygotes.
|
26912477 |
2016 |
Cataract
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Such hereditary disorders include nonsyndromic or syndromic deafness (Cx26, Cx30), Charcot Marie Tooth disease (Cx32), occulodentodigital dysplasia and cardiopathies (Cx43), and cataracts (Cx46, Cx50).
|
27228968 |
2016 |
Cataract
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract.
|
25403472 |
2014 |
Cataract
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
To examine the mechanism by which a novel connexin 50 (Cx50) mutation, Cx50 V44A, in a Chinese family causes suture-sparing autosomal dominant congenital nuclear cataracts.
|
25517998 |
2014 |
Cataract
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in connexin50 (Cx50) cause dominant cataracts in both humans and mice.
|
24005045 |
2014 |
Cataract
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These changes include a homozygous missense change of c.649G>A (Val196Met) in GJA8/connexin 50 (Cx50) in a family with autosomal recessive cataract, two heterozygous missense changes, c.658C>T (Pro199Ser) in GJA8/Cx50 and c.589C>T (Pro197Ser) in GJA3/connexin 46 (Cx46) in two separate families with autosomal dominant cataract, and a silent change ( c.84G>A/p.Val28Val, predicted to result in the creation of a new potential branch point) in GJA8 one family with an autosomal dominant inheritance of cataract.
|
23734083 |
2013 |
Cataract
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These findings imply that the Gja8(R205G) mutation differentially impairs the functions of Cx50 and Cx46 to cause cataracts, small lenses and microphthalmia.
|
23300808 |
2012 |
Cataract
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We studied the consequences of two cataract-associated mutations at adjacent positions at the first extracellular boundary in human connexin50 (Cx50), W45S and G46V.
|
21228318 |
2011 |
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 |
We also tested some polymorphic markers; two (GJA8, CRYBB3) were significantly associated with cataracts.
|
21873656 |
2011 |
Cataract
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Although the CX50I247M substitution has previously been suggested to cause cataracts, our genetic, cellular, and electrophysiological data suggest that this allele more likely represents a rare silent, polymorphic variant.
|
19756179 |
2009 |
Cataract
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Here, we tested whether the cataract inducing Cx50-S50P mutant interacts with wild-type Connexin43 (Cx43) to form mixed channels with attenuated function.
|
19331825 |
2009 |
Cataract
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
To determine the consequences of expression of a novel connexin50 (CX50) mutant identified in a child with congenital total cataracts.
|
19684000 |
2009 |
Cataract
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
To screen for mutations of connexin50 (Cx50)/GJA8 in a panel of patients with inherited cataract and to determine the cellular and functional consequences of the identified mutation.
|
18006672 |
2008 |
Cataract
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
We report a p.P88Q mutation in GJA8 associated with Y-sutural cataract in a family of Indian origin.
|
18587493 |
2008 |
Cataract
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A novel GJA8 mutation causing a recessive triangular cataract.
|
18483562 |
2008 |
Cataract
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian origin.
|
18587493 |
2008 |
Cataract
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin.
|
18334946 |
2008 |
Cataract
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Mutation screening was performed in the cataract candidate genes coding for crystallins and connexin 50 by sequencing of polymerase chain reaction (PCR) products amplified from blood leukocyte DNA samples of eight family members.
|
18334966 |
2008 |