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