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Items: 12

1.
X-linked inheritances recessive of congenital nystagmus and autosomal dominant inheritances of congenital cataracts coexist in a Chinese family: a case report and literature review
Naihong Yan, Lirong Xiao, Chen Hou, Bo Guo, Wei Fan, Yingping Deng, Ke Ma
BMC Med Genet. 2019; 20: 41. Published online 2019 Mar 19. doi: 10.1186/s12881-019-0780-4
PMCID:
PMC6423883
AbstractArticlePDF–1.1M
2.
Structure of native lens connexin-46/50 intercellular channels by CryoEM
Janette B. Myers, Bassam G. Haddad, Susan E. O’Neill, Dror S. Chorev, Craig C. Yoshioka, Carol V. Robinson, Daniel M. Zuckerman, Steve L. Reichow
Nature. Author manuscript; available in PMC 2019 Jun 12.
Published in final edited form as: Nature. 2018 Dec; 564(7736): 372–377. Published online 2018 Dec 12. doi: 10.1038/s41586-018-0786-7
PMCID:
PMC6309215
AbstractArticlePDF–7.8M
3.
A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q.
A Shiels, D Mackay, A Ionides, V Berry, A Moore, S Bhattacharya
Am J Hum Genet. 1998 Mar; 62(3): 526–532. doi: 10.1086/301762
PMCID:
PMC1376956
SummaryPDF–405K
4.
GJA8 missense mutation disrupts hemichannels and induces cell apoptosis in human lens epithelial cells
Li Li, Da-Bei Fan, Ya-Ting Zhao, Yun Li, Zi-Bing Yang, Guang-Ying Zheng
Sci Rep. 2019; 9: 19157. Published online 2019 Dec 16. doi: 10.1038/s41598-019-55549-1
PMCID:
PMC6915756
AbstractArticlePDF–2.0M
5.
A Cell Junctional Protein Network Associated with Connexin-26
Ana C. Batissoco, Rodrigo Salazar-Silva, Jeanne Oiticica, Ricardo F. Bento, Regina C. Mingroni-Netto, Luciana A. Haddad
Int J Mol Sci. 2018 Sep; 19(9): 2535. Published online 2018 Aug 27. doi: 10.3390/ijms19092535
PMCID:
PMC6163694
AbstractArticlePDF–7.9M
6.
A novel truncation mutation in CRYBB1 associated with autosomal dominant congenital cataract with nystagmus
Yan Rao, Sufang Dong, Zuhua Li, Guohua Yang, Chunyan Peng, Ming Yan, Fang Zheng
Mol Vis. 2017; 23: 624–637. Published online 2017 Sep 1.
PMCID:
PMC5595272
AbstractArticlePDF–1.6M
7.
Exome Sequencing of 18 Chinese Families with Congenital Cataracts: A New Sight of the NHS Gene
Wenmin Sun, Xueshan Xiao, Shiqiang Li, Xiangming Guo, Qingjiong Zhang
PLoS One. 2014; 9(6): e100455. Published online 2014 Jun 26. doi: 10.1371/journal.pone.0100455
PMCID:
PMC4072665
AbstractArticlePDF–1.9M
8.
Structure-Function Correlation Analysis of Connexin50 Missense Mutations Causing Congenital Cataract: Electrostatic Potential Alteration Could Determine Intracellular Trafficking Fate of Mutants
Devroop Sarkar, Kunal Ray, Mainak Sengupta
Biomed Res Int. 2014; 2014: 673895. Published online 2014 May 6. doi: 10.1155/2014/673895
PMCID:
PMC4066682
AbstractArticlePDF–1.1M
9.
Mutation analysis of 12 genes in Chinese families with congenital cataracts
Wenmin Sun, Xueshan Xiao, Shiqiang Li, Xiangming Guo, Qingjiong Zhang
Mol Vis. 2011; 17: 2197–2206. Published online 2011 Aug 16.
PMCID:
PMC3159683
AbstractArticlePDF–7.5M
10.
Mutational screening of six genes in Chinese patients with congenital cataract and microcornea
Wenmin Sun, Xueshan Xiao, Shiqiang Li, Xiangming Guo, Qingjiong Zhang
Mol Vis. 2011; 17: 1508–1513. Published online 2011 Jun 7.
PMCID:
PMC3115747
AbstractArticlePDF–2.1M
11.
Microphthalmia and cataract in rats with a novel point mutation in connexin 50 - L7Q
František Liška, Blanka Chylíková, Jindřich Martínek, Vladimír Křen
Mol Vis. 2008; 14: 823–828. Published online 2008 May 7.
PMCID:
PMC2373795
AbstractArticlePDF–4.0M
12.
Two novel mutations of connexin genes in Chinese families with autosomal dominant congenital nuclear cataract
Z Ma, J Zheng, F Yang, J Ji, X Li, X Tang, X Yuan, X Zhang, H Sun
Br J Ophthalmol. 2005 Nov; 89(11): 1535–1537. doi: 10.1136/bjo.2005.075184
Correction in:
Br J Ophthalmol. 2006 Jan; 90(1): 125.
PMCID:
PMC1772944
ArticlePDF–1.1M

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