PubMed

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. 2008 Mar;45(3):155-60. Epub 2007 Nov 15.PMID: 18006672 [PubMed - indexed for MEDLINE]Related articlesFree article

A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract.

Arora A, Minogue PJ, Liu X, Reddy MA, Ainsworth JR, Bhattacharya SS, Webster AR, Hunt DM, Ebihara L, Moore AT, Beyer EC, Berthoud VM.

J Med Genet. 2006 Jan;43(1):e2.PMID: 16397066 [PubMed - indexed for MEDLINE]Related articlesFree article

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

Graw J, Schmidt W, Minogue PJ, Rodriguez J, Tong JJ, Klopp N, Illig T, Ebihara L, Berthoud VM, Beyer EC.

Mol Vis. 2009 Sep 14;15:1881-5.PMID: 19756179 [PubMed - indexed for MEDLINE]Related articlesFree article

Characterization of a mouse Cx50 mutation associated with the No2 mouse cataract.

Xu X, Ebihara L.

Invest Ophthalmol Vis Sci. 1999 Jul;40(8):1844-50.PMID: 10393059 [PubMed - indexed for MEDLINE]Related articlesFree article

Cataracts are caused by alterations of a critical N-terminal positive charge in connexin50.

Thomas BC, Minogue PJ, Valiunas V, Kanaporis G, Brink PR, Berthoud VM, Beyer EC.

Invest Ophthalmol Vis Sci. 2008 Jun;49(6):2549-56. Epub 2008 Mar 7.PMID: 18326694 [PubMed - indexed for MEDLINE]Related articlesFree article

Connexin mutation that causes dominant congenital cataracts inhibits gap junctions, but not hemichannels, in a dominant negative manner.

Banks EA, Toloue MM, Shi Q, Zhou ZJ, Liu J, Nicholson BJ, Jiang JX.

J Cell Sci. 2009 Feb 1;122(Pt 3):378-88. Epub 2009 Jan 6.PMID: 19126675 [PubMed - indexed for MEDLINE]Related articlesFree article

The cataract causing Cx50-S50P mutant inhibits Cx43 and intercellular communication in the lens epithelium.

DeRosa AM, Meşe G, Li L, Sellitto C, Brink PR, Gong X, White TW.

Exp Cell Res. 2009 Apr 1;315(6):1063-75. Epub 2009 Jan 30.PMID: 19331825 [PubMed - indexed for MEDLINE]Related articles

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. 2007 Dec 1;120(Pt 23):4107-16. Epub 2007 Nov 14.PMID: 18003700 [PubMed - indexed for MEDLINE]Related articlesFree article

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. 2002 Mar 1;11(5):507-13.PMID: 11875045 [PubMed - indexed for MEDLINE]Related articlesFree article

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. 2008 Mar 4;14:418-24.PMID: 18334966 [PubMed - indexed for MEDLINE]Related articlesFree article

Molecular mechanism underlying a Cx50-linked congenital cataract.

Pal JD, Berthoud VM, Beyer EC, Mackay D, Shiels A, Ebihara L.

Am J Physiol. 1999 Jun;276(6 Pt 1):C1443-6. Erratum in: Am J Physiol 1999 Dec;277(6 Pt 1):section C followi. PMID: 10362609 [PubMed - indexed for MEDLINE]Related articlesFree article

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. 2006 Oct 18;12:1217-22.PMID: 17110920 [PubMed - indexed for MEDLINE]Related articlesFree article

A mutation in the connexin 50 (Cx50) gene is a candidate for the No2 mouse cataract.

Steele EC Jr, Lyon MF, Favor J, Guillot PV, Boyd Y, Church RL.

Curr Eye Res. 1998 Sep;17(9):883-9.PMID: 9746435 [PubMed - indexed for MEDLINE]Related articles

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

Lin Y, Liu NN, Lei CT, Fan YC, Liu XQ, Yang Y, Wang JF, Liu B, Yang ZL.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Feb;25(1):59-62. Chinese. PMID: 18247306 [PubMed - indexed for MEDLINE]Related articles

Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea.

Devi RR, Vijayalakshmi P.

Mol Vis. 2006 Mar 23;12:190-5.PMID: 16604058 [PubMed - indexed for MEDLINE]Related articlesFree article

A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin.

Vanita V, Singh JR, Singh D, Varon R, Sperling K.

Mol Vis. 2008 Feb 9;14:323-6.PMID: 18334946 [PubMed - indexed for MEDLINE]Related articlesFree article

A mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian origin.

Vanita V, Singh JR, Singh D, Varon R, Sperling K.

Mol Vis. 2008 Jun 17;14:1171-5.PMID: 18587493 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract.

Ponnam SP, Ramesha K, Tejwani S, Ramamurthy B, Kannabiran C.

J Med Genet. 2007 Jul;44(7):e85.PMID: 17601931 [PubMed - indexed for MEDLINE]Related articles

Transgenic overexpression of connexin50 induces cataracts.

Chung J, Berthoud VM, Novak L, Zoltoski R, Heilbrunn B, Minogue PJ, Liu X, Ebihara L, Kuszak J, Beyer EC.

Exp Eye Res. 2007 Mar;84(3):513-28. Epub 2007 Jan 10.PMID: 17217947 [PubMed - indexed for MEDLINE]Related articlesFree article

Loss of function and impaired degradation of a cataract-associated mutant connexin50.

Berthoud VM, Minogue PJ, Guo J, Williamson EK, Xu X, Ebihara L, Beyer EC.

Eur J Cell Biol. 2003 May;82(5):209-21.PMID: 12800976 [PubMed - indexed for MEDLINE]Related articlesFree article