|
Congenital cataract
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This is the first time that FRMD7 and GJA8 gene mutations have been linked to the pathogenesis of a family with both CN and congenital cataracts.
|
30890130 |
2019 |
|
Congenital cataract
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Identification and preliminary functional analysis of two novel congenital cataract associated mutations of Cx46 and Cx50.
|
31618082 |
2019 |
|
Congenital cataract
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A <i>new mutation</i> (c.166A>C) in <i>GJA8 underlying a nuclear congenital cataract was identified in this study.</i> Its segregation with the phenotype might be useful as a predicting marker of the disease.
|
30373400 |
2019 |
|
Congenital cataract
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A Novel Cx50 Insert Mutation from a Chinese Congenital Cataract Family Impairs Its Cellular Membrane Localization and Function.
|
29489419 |
2018 |
|
Congenital cataract
|
0.400 |
Biomarker
|
disease |
BEFREE |
The gap junction protein alpha 8 (GJA8) gene has been widely studied in human congenital cataracts.
|
30349978 |
2018 |
|
Congenital cataract
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Delineation of Novel Autosomal Recessive Mutation in GJA3 and Autosomal Dominant Mutations in GJA8 in Pakistani Congenital Cataract Families.
|
29461512 |
2018 |
|
Congenital cataract
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This project expands the disease spectrum for mutations in GJA8 to include total sclerocornea, rudimentary lenses and microphthalmia, in addition to this gene's previously known role in isolated congenital cataracts.
|
28455998 |
2018 |
|
Congenital cataract
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, c.10T>A (p.W4R) in GJA8 is the newly identified genetic cause of familial congenital cataract.
|
29434075 |
2018 |
|
Congenital cataract
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The missense mutation c.139G > A in GJA8 gene is associated with autosomal dominant congenital cataract in a six-generation Chinese family.
|
28526010 |
2017 |
|
Congenital cataract
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We identified a variant in transmembrane domain 4 of Cx50 in a family with autosomal dominant congenital cataracts.
|
28827829 |
2017 |
|
Congenital cataract
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The results of our study would further broaden the mutation spectrum of GJA8 associated with congenital cataract.
|
27785597 |
2017 |
|
Congenital cataract
|
0.400 |
Biomarker
|
disease |
BEFREE |
CRISPR/Cas9-mediated GJA8 knockout in rabbits recapitulates human congenital cataracts.
|
26912477 |
2016 |
|
Congenital cataract
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our study constitutes the first report that the Cx50P59A and Cx50R76H mutations are associated with ADCC and expands the mutation spectrum of Cx50 in association with congenital cataracts.
|
27216975 |
2016 |
|
Congenital cataract
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.
|
26694549 |
2016 |
|
Congenital cataract
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The above results support the pathogenic role of the 15 bp deletion on GJA8 in the Chinese family and demonstrate targeted genes sequencing as a resolution to molecular diagnosis of CCs.
|
26996484 |
2016 |
|
Congenital cataract
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.
|
26694549 |
2016 |
|
Congenital cataract
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A novel Cx50 (GJA8) p.H277Y mutation associated with autosomal dominant congenital cataract identified with targeted next-generation sequencing.
|
25947639 |
2015 |
|
Congenital cataract
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A novel GJA8 mutation (p.V44A) causing autosomal dominant congenital cataract.
|
25517998 |
2014 |
|
Congenital cataract
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Functional effects of Cx50 mutations associated with congenital cataracts.
|
24005045 |
2014 |
|
Congenital cataract
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Connexin50 (Cx50) mutations are reported to cause congenital cataract probably through the disruption of intercellular transport in the lens.
|
25003127 |
2014 |
|
Congenital cataract
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Identification of a novel GJA8 (Cx50) point mutation causes human dominant congenital cataracts.
|
24535056 |
2014 |
|
Congenital cataract
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We investigated the cellular and functional behavior of CX50fs, a mutant CX50 that has a frameshift after amino acid 255 and causes recessive congenital cataracts.
|
23720739 |
2013 |
|
Congenital cataract
|
0.400 |
Biomarker
|
disease |
BEFREE |
Our study provides important evidence that GJA8 is a disease-causing gene for congenital cataract and that mutation of GJA8 has a potential causative effect.
|
23555834 |
2013 |
|
Congenital cataract
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our study has identified a novel connexin 50 gene (GJA8) mutation, resulting in the amino substitution p. D47H in a Chinese family with nuclear and zonular pulverulent congenital cataracts.
|
23592913 |
2013 |
|
Congenital cataract
|
0.400 |
Biomarker
|
disease |
MGD |
Cataracts and microphthalmia caused by a Gja8 mutation in extracellular loop 2.
|
23300808 |
2012 |