| 1 | GJA8, MIP
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| Aquaporin 0 enhances gap junction coupling via its cell adhesion function and interaction with connexin 50.
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| Liu J, Xu J, Gu S, Nicholson BJ, Jiang JX.
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| J Cell Sci 124(Pt 2):198-206. Epub 2010 Dec 20.
2011
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| 2 | CRYAB, CRYGC, CRYGD, GJA8
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| Mutation screening and genotype phenotype correlation of α-crystallin, γ-crystallin and GJA8 gene in congenital cataract.
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| Kumar M, Agarwal T, Khokhar S, Kumar M, Kaur P, Roy TS, Dada R.
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| Mol Vis. 17:693-707. 2011
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| 3 | GJA8
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| Molecular interaction and functional regulation of connexin50 gap junctions by calmodulin.
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| Chen Y, Zhou Y, Lin X, Wong HC, Xu Q, Jiang J, Wang S, Lurtz MM, Louis CF, Veenstra RD, Yang JJ.
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| Biochem J 435(3):711-22.
2011
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| 4 | GJA8, TJP1
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| Cx50 requires an intact PDZ-binding motif and ZO-1 for the formation of functional intercellular channels.
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| Chai Z, Goodenough DA, Paul DL.
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| Mol Biol Cell 22(23):4503-12. doi: 10.1091/mbc.E11-05-0438. Epub 2011 Sep 30.
2011
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| 5 | GJA8, CZP1
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| A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts.
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| Arora A, Minogue PJ, Liu X, Addison PK, Russel-Eggitt I, Webster AR, Hunt DM, Ebihara L, Beyer EC, Berthoud VM, Moore AT.
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| J Med Genet 45(3):155-60. Epub 2007 Nov 15. 2008
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| 6 | CZP1, GJA8
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| A novel connexin 50 (GJA8) mutation in a Chinese family with a dominant congenital pulverulent nuclear cataract.
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| Yan M, Xiong C, Ye SQ, Chen Y, Ke M, Zheng F, Zhou X.
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| Mol Vis 14:418-24.PMID: 18334966 2008
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| 7 | CATR, GJA8
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| A novel GJA8 mutation causing a recessive triangular cataract.
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| Schmidt W, Klopp N, Illig T, Graw J.
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| Mol Vis 14:851-6.PMID: 18483562 2008
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| 8 | DEL1Q21D, GJA8
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| Connexin 50 gene on human chromosome 1q21 is associated with schizophrenia in matched case control and family-based studies.
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| Ni X, Valente J, Azevedo MH, Pato MT, Pato CN, Kennedy JL.
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| J Med Genet 44(8):532-6. Epub 2007 Apr 5. 2007
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| 9 | ADCC1, CCL, CRYAA, CRYGD, CZP1, GJA8
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| Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.
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| Hansen L, Yao W, Eiberg H, Kjaer KW, Baggesen K, Hejtmancik JF, Rosenberg T.
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| Invest Ophthalmol Vis Sci 48(9):3937-44. 2007
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| 10 | CZP1, GJA8
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| The cataract-inducing S50P mutation in Cx50 dominantly alters the channel gating of wild-type lens connexins.
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| DeRosa AM, Xia CH, Gong X, White TW.
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| J Cell Sci 120(Pt 23):4107-16. Epub 2007 Nov 14.PMID: 18003700 2007
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| 11 | GJA8, CZP1
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| Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea.
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| Devi RR, Vijayalakshmi P.
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| Mol Vis 12:190-5. 2006
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| 12 | CZP1, GJA8
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| A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family of Indian origin.
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| Vanita V, Hennies HC, Singh D, Nürnberg P, Sperling K, Singh JR.
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| Mol Vis 12:1217-22.
2006
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| 13 | GJA8
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| The gating effect of calmodulin and calcium on the connexin50 hemichannel.
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| Zhang X, Zou T, Liu Y, Qi Y.
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| Biol Chem 387(5):595-601.
2006
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| 14 | ACP6, DEL1Q21D, GJA5, GJA8
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| Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease.
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| Christiansen J, Dyck JD, Elyas BG, Lilley M, Bamforth JS, Hicks M, Sprysak KA, Tomaszewski R, Haase SM, Vicen-Wyhony LM, Somerville MJ.
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| Circ Res 94(11):1429-35. Epub 2004 Apr 29. 2004
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| 15 | GJA3, GJA8, PRKCG
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| Differential phosphorylation of connexin46 and connexin50 by H2O2 activation of protein kinase Cgamma.
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| Lin D, Lobell S, Jewell A, Takemoto DJ.
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| Mol Vis 10:688-95.
2004
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| 16 | GJA8
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| Functional role of the carboxyl terminal domain of human connexin 50 in gap junctional channels.
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| Xu X, Berthoud VM, Beyer EC, Ebihara L.
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| J Membr Biol 186(2):101-12. 2002
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| 17 | GJA8
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| Unique and redundant connexin contributions to lens development.
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| White TW.
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| Science. 295(5553):319-20. 2002
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| 18 | ADCC1, CRYAA, CZP1, GJA8
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| Genetically distinct autosomal dominant posterior polar cataract in a four-generation Japanese family.
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| Yamada K, Tomita HA, Kanazawa S, Mera A, Amemiya T, Niikawa N.
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| Am J Ophthalmol 129(2):159-65. 2000
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| 19 | CZP1, GJA8
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| Connexin 50 mutation in a family with congenital zonular nuclear pulverulent cataract of Pakistani origin.
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| Berry V, et al.
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| Hum Genet 105(1-2):168-70. 1999
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| 20 | CZP1, GJA8
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| A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant zonular pulverulent cataract, on chromosome 1q.
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| Shiels A, et al.
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| Am J Hum Genet 62 : 526-532. 1998
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| 21 | GJA8
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| Targeted ablation of connexin50 in mice results in microphthalmia and zonular pulverulent cataracts.
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| White TW, Goodenough DA, Paul DL.
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| J Cell Biol. 143(3):815-25. 1998
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| 22 | CZP1, GJA8
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| Regional mapping of the human MP70 (Cx50; connexin 50) gene by fluorescence in situ hybridization to 1q21.1.
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| Geyer DD, et al.
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| Mol Vis http/www.emory.edu/molvis/v3/geyer 1997
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| 23 | GJA8
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| The human lens intrinsic membrane protein MP70 (Cx50) gene : clonal analysis and chromosome mapping : erratum.
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| Church RL, et al.
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| Curr Eye Res 14 : 979-981. 1995
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| 24 | GJA8
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| The human lens intrinsic membrane protein MP70 (Cx50) gene : clonal analysis and chromosome mapping.
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| Church RL, et al.
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| Curr Eye Res 14 : 215-221. 1995
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