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A novel mutation in the connexin 50 gene (GJA8) associated with autosomal dom...

Gao(Xiaobo),Cheng(Jie),Lu(Cailing),Li(Xiao... Curr Eye Res 2010-09-23

...GJA8). Sequencing the coding regions of GJA8 revealed a novel, heterozygous c.773C > T transition that resulted in the s...

A novel human CRYGD mutation in a juvenile autosomal dominant cataract.

Roshan(Mascarenhas),Vijaya(Pai H),Lavanya(... Mol Vis 2010-08-25

...GJA8), and PAX6 based on polymerase chain reaction and single strand conformation polymorphism (PCR-SSCP) analysis. Samp...

[A heterozygous transversion of connexin 50 in a family with congenital nucle...

Zheng(Jian-qiu),Ma(Zhi-wei),Sun(Hui-min) Zhonghua Yi Xue Yi Chuan Xu... 2009-03-19

...GJA8). Sequencing of the coding region of GJA8 gene showed a heterozygous transversion T>G in exon 2, which resulted in ...

[A novel GJA8 mutation in a Chinese family with autosomal dominant congenital...

Lin(Ying),Liu(Ni-ni),Lei(Chun-tao),Fan(Yin... Zhonghua Yi Xue Yi Chuan Xu... 2009-03-13

To identify the mutations in the gap junction protein alpha3/alpha8 gene (GJA3 or GJA8) in the Chinese family with autos...

Scanning 17 candidate genes for association with primary cataracts in the wir...

Müller(Christina),Distl(Ottmar) Vet J 2009-12-17

...GJA8, HSF4, MAF, MIP, PAX6, PITX3, SIX5, SORD, SOX1, SPARC, TRNT1) were evaluated as candidates for primary non-congenit...

Novel mutation in the gamma-S crystallin gene causing autosomal dominant cata...

Vanita(Vanita),Singh(Jai Rup),Singh(Daljit... Mol Vis 2009-04-21

...GJA8]), 2q33-36 (crystallin, gamma A [CRYGA], crystallin, gamma B [CRYGB], crystallin, gamma C [CRYGC], crystallin, gamm...

Mutation analysis of congenital cataract in a Basotho family identified a new...

Mothobi(Maneo Emily),Guo(Shuren),Liu(Yuany... Mol Vis 2009-10-27

...GJA8 (Gap junction protein, alpha 8), CRY (AA & AB; Crystallin, alpha A and Crystallin, alpha B), CRYBA (Crystallin, bet...

The GJA8 allele encoding CX50I247M is a rare polymorphism, not a cataract-cau...

Graw(Jochen),Schmidt(Werner),Minogue(Peter... Mol Vis 2009-10-28

...GJA8 gene, encoding the exchange of methionine for isoleucine at position 247 of CX50 (CX50I247M). The mutation was conf...

The membrane proteome of the mouse lens fiber cell.

Bassnett(Steven),Wilmarth(Phillip A),David... Mol Vis 2009-12-30

...Gja8, and Gje1. Significantly, many proteins previously unsuspected in the lens were also detected, including proteins w...

A mutant connexin50 with enhanced hemichannel function leads to cell death.

Minogue(Peter J),Tong(Jun-Jie),Arora(Anita... Invest Ophthalmol Vis Sci 2009-12-23

...GJA8 gene was directly sequenced. Formation of functional channels was assessed by the two-microelectrode voltage-clamp,...

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