PubMed

Two novel mutations of connexin genes in Chinese families with autosomal dominant congenital nuclear cataract.

Ma ZW, Zheng JQ, Li J, Li XR, Tang X, Yuan XY, Zhang XM, Sun HM.

Br J Ophthalmol. 2005 Nov;89(11):1535-7. No abstract available. Erratum in: Br J Ophthalmol. 2006 Jan;90(1):125. Ma, Z [corrected to Ma, ZW]; Zheng, J [corrected to Zheng, JQ]; Yang, F [removed]; Ji, J [corrected to Li, J]; Li, X [corrected to Li, XR]; Yuan, X [corrected to Yuan, XY]; Zhang, X [corrected to Zhang, XM]; Sun, H [corrected to Sun, HM]. PMID: 16234473 [PubMed - indexed for MEDLINE]Related articlesFree article

A novel connexin46 (GJA3) mutation in autosomal dominant congenital nuclear pulverulent cataract.

Li Y, Wang J, Dong B, Man H.

Mol Vis. 2004 Sep 14;10:668-71.PMID: 15448617 [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

A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance.

Burdon KP, Wirth MG, Mackey DA, Russell-Eggitt IM, Craig JE, Elder JE, Dickinson JL, Sale MM.

J Med Genet. 2004 Aug;41(8):e106. No abstract available. Erratum in: J Med Genet. 2005 Mar;42(3):288. J Med Genet. 2008 Apr;45(4):256. PMID: 15286166 [PubMed - indexed for MEDLINE]Related articlesFree article

A novel mutation in the connexin 46 gene (GJA3) causes autosomal dominant zonular pulverulent cataract in a Hispanic family.

Addison PK, Berry V, Holden KR, Espinal D, Rivera B, Su H, Srivastava AK, Bhattacharya SS.

Mol Vis. 2006 Jul 20;12:791-5.PMID: 16885921 [PubMed - indexed for MEDLINE]Related articlesFree article

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. 2003 Oct 24;9:579-83.PMID: 14627959 [PubMed - indexed for MEDLINE]Related articlesFree article

A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract.

Yang J, Zhu Y, Gu F, He X, Cao Z, Li X, Tong Y, Ma X.

Mol Vis. 2008 Apr 18;14:727-31.PMID: 18432316 [PubMed - indexed for MEDLINE]Related articlesFree article

Crystallin gene mutations in Indian families with inherited pediatric cataract.

Devi RR, Yao W, Vijayalakshmi P, Sergeev YV, Sundaresan P, Hejtmancik JF.

Mol Vis. 2008 Jun 16;14:1157-70.PMID: 18587492 [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

Connexin46 mutations in autosomal dominant congenital cataract.

Mackay D, Ionides A, Kibar Z, Rouleau G, Berry V, Moore A, Shiels A, Bhattacharya S.

Am J Hum Genet. 1999 May;64(5):1357-64.PMID: 10205266 [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

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. 2007 Sep 11;13:1657-65.PMID: 17893674 [PubMed - indexed for MEDLINE]Related articlesFree article

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. 2000 Feb;106(2):206-9.PMID: 10746562 [PubMed - indexed for MEDLINE]Related articles

Novel mutations in GJA3 associated with autosomal dominant congenital cataract in the Indian population.

Devi RR, Reena C, Vijayalakshmi P.

Mol Vis. 2005 Oct 11;11:846-52.PMID: 16254549 [PubMed - indexed for MEDLINE]Related articlesFree article

Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract.

Cohen D, Bar-Yosef U, Levy J, Gradstein L, Belfair N, Ofir R, Joshua S, Lifshitz T, Carmi R, Birk OS.

Invest Ophthalmol Vis Sci. 2007 May;48(5):2208-13.PMID: 17460281 [PubMed - indexed for MEDLINE]Related articlesFree article

Two Chinese families with pulverulent congenital cataracts and deltaG91 CRYBA1 mutations.

Lu S, Zhao C, Jiao H, Kere J, Tang X, Zhao F, Zhang X, Zhao K, Larsson C.

Mol Vis. 2007 Jul 13;13:1154-60.PMID: 17653060 [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

The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46.

Hansen L, Yao W, Eiberg H, Funding M, Riise R, Kjaer KW, Hejtmancik JF, Rosenberg T.

Mol Vis. 2006 Sep 1;12:1033-9.PMID: 16971895 [PubMed - indexed for MEDLINE]Related articlesFree article

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

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. 2007 Sep;48(9):3937-44.PMID: 17724170 [PubMed - indexed for MEDLINE]Related articlesFree article