| 1 | CZP3, GJA3
|
| A recurrent missense mutation in GJA3 associated with autosomal dominant cataract linked to chromosome 13q.
|
| Bennett TM, Shiels A.
|
| Mol Vis. 17:2255-62. 2011
|
| 2 | CZP3, GJA3
|
| A novel GJA3 mutation associated with congenital nuclear pulverulent and posterior polar cataract in a Chinese family.
|
| Yao K, Wang W, Zhu Y, Jin C, Shentu X, Jiang J, Zhang Y, Ni S.
|
| Hum Mutat 32(12):1367-70. doi: 10.1002/humu.21552. Epub 2011 Sep 9.
2011
|
| 3 | CZP3, GJA3
|
| A novel mutation in the connexin 46 (GJA3) gene associated with autosomal dominant congenital cataract in an Indian family.
|
| Guleria K, Sperling K, Singh D, Varon R, Singh JR, Vanita V.
|
| Mol Vis 13:1657-65.
2007
|
| 4 | GJA3, CZP3
|
| An aberrant sequence in a connexin46 mutant underlies congenital cataracts.
|
| Minogue PJ, Liu X, Ebihara L, Beyer EC, Berthoud VM.
|
| J Biol Chem 280(49):40788-95. Epub 2005 Oct 3. 2005
|
| 5 | GJA3, GJA8, PRKCG
|
| Differential phosphorylation of connexin46 and connexin50 by H2O2 activation of protein kinase Cgamma.
|
| Lin D, Lobell S, Jewell A, Takemoto DJ.
|
| Mol Vis 10:688-95.
2004
|
| 6 | GJA3, CZP3
|
| A novel mutation in GJA3 (connexin46) for autosomal dominant congenital nuclear pulverulent cataract.
|
| Jiang H, Jin Y, Bu L, Zhang W, Liu J, Cui B, Kong X, Hu L.
|
| Mol Vis 9:579-83. 2003
|
| 7 | GJA3
|
| Lens connexins alpha3Cx46 and alpha8Cx50 interact with zonula occludens protein-1 (ZO-1).
|
| Nielsen PA, Baruch A, Shestopalov VI, Giepmans BN, Dunia I, Benedetti EL, Kumar NM.
|
| Mol Biol Cell. 14(6):2470-81. 2003
|
| 8 | GJA3
|
| A Gja8 (Cx50) point mutation causes an alteration of alpha 3 connexin (Cx46) in semi-dominant cataracts of Lop10 mice.
|
| Chang B, Wang X, Hawes NL, Ojakian R, Davisson MT, Lo WK, Gong X.
|
| Hum Mol Genet. 11(5):507-13. 2002
|
| 9 | GJA1, GJA3
|
| Multimeric connexin interactions prior to the trans-Golgi network.
|
| Das Sarma J, Meyer RA, Wang F, Abraham V, Lo CW, Koval M.
|
| J Cell Sci. 114(Pt 22):4013-24. 2001
|
| 10 | CZP3, GJA3
|
| Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3).
|
| Rees MI, Watts P, Fenton I, Clarke A, Snell RG, Owen MJ, Gray J.
|
| Hum Genet 106(2):206-9. 2000
|
| 11 | CZP3, GJA3
|
| Connexin46 mutations in autosomal dominant congenital cataract.
|
| Mackay D, et al.
|
| Am J Hum Genet 64(5):1357-64. 1999
|
| 12 | GJA3
|
| Disruption of alpha3 connexin gene leads to proteolysis and cataractogenesis in mice.
|
| Gong X, Li E, Klier G, Huang Q, Wu Y, Lei H, Kumar NM, Horwitz J, Gilula NB.
|
| Cell. 91(6):833-43. 1997
|
| 13 | GJA1, GJA3, GJB1, GJB2
|
| Distribution of genes for Gap junction membrane channel proteins on human and mouse chromosomes.
|
| Hsieh CL, et al.
|
| Somat Cell Mol Genet 17 : 191-200. 1991
|