Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 125

1.

Dense cataract and microphthalmia (dcm) in BALB/c mice is caused by mutations in the GJA8 locus.

Bakthavachalu B, Kalanke S, Galande S, Ramanamurthy B, Parab P, Kohale KN, Seshadri V.

J Genet. 2010 Aug;89(2):147-54.

2.

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.

3.

Dense cataract and microphthalmia--new spontaneous mutation in BALB/c mice.

Kohale K, Ingle A, Kelkar A, Parab P.

Comp Med. 2004 Jun;54(3):275-9.

PMID:
15253273
4.

Microphthalmia and cataract in rats with a novel point mutation in connexin 50 - L7Q.

Liska F, Chylíková B, Martínek J, Kren V.

Mol Vis. 2008 May 7;14:823-8.

5.

Mutation in a novel connexin-like gene (Gjf1) in the mouse affects early lens development and causes a variable small-eye phenotype.

Puk O, Löster J, Dalke C, Soewarto D, Fuchs H, Budde B, Nürnberg P, Wolf E, de Angelis MH, Graw J.

Invest Ophthalmol Vis Sci. 2008 Apr;49(4):1525-32. doi: 10.1167/iovs.07-1033.

PMID:
18385072
6.

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.

7.

Cataracts and microphthalmia caused by a Gja8 mutation in extracellular loop 2.

Xia CH, Chang B, Derosa AM, Cheng C, White TW, Gong X.

PLoS One. 2012;7(12):e52894. doi: 10.1371/journal.pone.0052894. Epub 2012 Dec 26.

8.

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
9.

Microphakia and congenital cataract formation in a novel Lim2(C51R) mutant mouse.

Puk O, Ahmad N, Wagner S, de Angelis MH, Graw J.

Mol Vis. 2011;17:1164-71. Epub 2011 May 4.

10.

Knock-in of alpha3 connexin prevents severe cataracts caused by an alpha8 point mutation.

Xia CH, Cheung D, DeRosa AM, Chang B, Lo WK, White TW, Gong X.

J Cell Sci. 2006 May 15;119(Pt 10):2138-44. Erratum in: J Cell Sci. 2006 Jun 15;119(Pt 12):2632.

11.

New genetic model rat for congenital cataracts due to a connexin 46 (Gja3 ) mutation.

Yoshida M, Harada Y, Kaidzu S, Ohira A, Masuda J, Nabika T.

Pathol Int. 2005 Nov;55(11):732-7.

PMID:
16271086
12.

[A heterozygous transversion of connexin 50 in a family with congenital nuclear cataract in the northeast of China].

Zheng JQ, Ma ZW, Sun HM.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Feb;22(1):76-8. Chinese.

PMID:
15696487
13.

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
14.

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.

15.

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.

16.

Diverse gap junctions modulate distinct mechanisms for fiber cell formation during lens development and cataractogenesis.

Xia CH, Liu H, Cheung D, Cheng C, Wang E, Du X, Beutler B, Lo WK, Gong X.

Development. 2006 May;133(10):2033-40. Epub 2006 Apr 12.

17.

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.

18.

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. 2011 Mar 11;17:693-707.

19.

Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities.

Dansault A, David G, Schwartz C, Jaliffa C, Vieira V, de la Houssaye G, Bigot K, Catin F, Tattu L, Chopin C, Halimi P, Roche O, Van Regemorter N, Munier F, Schorderet D, Dufier JL, Marsac C, Ricquier D, Menasche M, Penfornis A, Abitbol M.

Mol Vis. 2007 Apr 2;13:511-23.

20.

Mapping of new recessive cataract gene (lr2) in the mouse.

Song CW, Okumoto M, Mori N, Kim JS, Han SS, Esaki K.

Mamm Genome. 1997 Dec;8(12):927-31.

PMID:
9383287
Items per page

Supplemental Content

Write to the Help Desk