Schmidt(Werner),Klopp(Norman),Illig(Thomas... Mol Vis 2008-07-15

...GJA8 gene, leading to a frame shift and 123 novel amino acids. The homozygous mutation was confirmed in the genomic DNA ...

Vanita(Vanita),Singh(Jai Rup),Singh(Daljit... Mol Vis 2008-07-17

...GJA8), was performed by bidirectional sequencing of the amplified products.,Affected individuals had "balloon-like" cata...

Vanita(Vanita),Singh(Jai Rup),Singh(Daljit... Mol Vis 2008-05-06

...GJA8, was performed by bidirectional sequencing of the amplified products.,Affected individuals had a jellyfish-like cat...

Yan(Ming),Xiong(Chenling),Ye(Shui Qing),Ch... Mol Vis 2008-05-06

...GJA8) gene. This mutation led to a serine (S) to phenylalanine (F) amino acid substitution in amino acid position 276 wh...

Liska(Frantisek),Chylíková(Blanka),Martíne... Mol Vis 2008-06-09

...Gja8 (coding for connexin 50), we found a T to A transversion at codon 7, leading to a substitution of glutamine for leu...

Ponnam(Surya Prakash G),Ramesha(Kekunnaya)... J Med Genet 2008-03-06

GJA8 encodes connexin-50, a gap junction protein in the eye lens. Mutations in GJA8 have been reported in families with ...

Arora(A),Minogue(P J),Liu(X),Addison(P K),... J Med Genet 2008-04-03

To screen for mutations of connexin50 (Cx50)/GJA8 in a panel of patients with inherited cataract and to determine the ce...

Gong(Xiaohua),Cheng(Catherine),Xia(Chun-hong) J Membr Biol 2008-04-17

...Gja8), are utilized to transport metabolites, ions and water in the lens. In combination with physiological and biochemi...

Hansen(Lars),Yao(Wenliang),Eiberg(Hans),Kj... Invest Ophthalmol Vis Sci 2007-10-11

...GJA8), and one mutation (Y134X) was detected in crystallin gamma-D (CRYGD).,The identification of a CRYGD mutation adds ...

Graw(Jochen),Klopp(Norman),Illig(Thomas),P... Graefes Arch Clin Exp Ophth... 2007-03-26

...GJA8) or macular hypoplasia (OA1, P) or both (PAX6) were analyzed.,The proband showed bilateral cataracts at the age of ...