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Items: 1 to 20 of 51

1.
A novel mutation in MIP associated with congenital nuclear cataract in a Chinese family
Kai Jie Wang, Sha Sha Li, Bo Yun, Wen Xian Ma, Tian Ge Jiang, Si Quan Zhu
Mol Vis. 2011; 17: 70–77. Published online 2011 Jan 8.
PMCID:
PMC3021572
AbstractArticlePDF–2.1M
2.
A Novel Insertion Variant of CRYGD Is Associated with Congenital Nuclear Cataract in a Chinese Family
Xiaotong Zhuang, Lianqing Wang, Zixun Song, Wei Xiao
PLoS One. 2015; 10(7): e0131471. Published online 2015 Jul 6. doi: 10.1371/journal.pone.0131471
PMCID:
PMC4493073
AbstractArticlePDF–4.0M
3.
Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans
Vanita Berry, Cheryl Gregory-Evans, Warren Emmett, Naushin Waseem, Jacob Raby, DeQuincy Prescott, Anthony T Moore, Shomi S Bhattacharya
Eur J Hum Genet. 2013 Dec; 21(12): 1356–1360. Published online 2013 Mar 27. doi: 10.1038/ejhg.2013.52
PMCID:
PMC3831071
AbstractArticlePDF–1.1M
4.
A recurrent mutation in CRYBA1 is associated with an autosomal dominant congenital nuclear cataract disease in a Chinese family
Guoxing Yang, Xinling Zhai, Jialiang Zhao
Mol Vis. 2011; 17: 1559–1563. Published online 2011 Jun 9.
PMCID:
PMC3115749
AbstractArticlePDF–2.9M
5.
A novel mutation in the MIP gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family
Guoxing Yang, Guisen Zhang, Qiang Wu, Jialiang Zhao
Mol Vis. 2011; 17: 1320–1323. Published online 2011 May 13.
PMCID:
PMC3107997
AbstractArticlePDF–4.2M
6.
A novel mutation in the GJA3 (connexin46) gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family
Guoxing Yang, Baogang Xing, Guangcai Liu, Xiangqing Lu, Xingang Jia, Xiangqing Lu, Xiuli Wang, Hongyan Yu, Yanjiang Fu, Jialiang Zhao
Mol Vis. 2011; 17: 1070–1073. Published online 2011 Apr 27.
PMCID:
PMC3086624
AbstractArticlePDF–414K
7.
Structural and aggregation behavior of the human γD-crystallin mutant E107A, associated with congenital nuclear cataract
Venkata Pulla Rao Vendra, Dorairajan Balasubramanian
Mol Vis. 2010; 16: 2822–2828. Published online 2010 Dec 17.
PMCID:
PMC3008718
AbstractArticlePDF–537K
8.
A novel mutation GJA8 NM_005267.5: c.124G > A, p.(E42K) causing congenital nuclear cataract
Ruru Guo, Dandan Huang, Jian Ji, Wei Liu
BMC Ophthalmol. 2022; 22: 172. Published online 2022 Apr 15. doi: 10.1186/s12886-022-02386-y
PMCID:
PMC9013174
AbstractArticlePDF–3.8M
9.
A novel mutation in CRYAB associated with autosomal dominant congenital nuclear cataract in a Chinese family
Qiang Chen, Junjie Ma, Ming Yan, Maneo Emily Mothobi, Yuanyuan Liu, Fang Zheng
Mol Vis. 2009; 15: 1359–1365. Published online 2009 Jul 10.
PMCID:
PMC2709425
AbstractArticlePDF–6.3M
10.
Deficiency of Jamc Leads to Congenital Nuclear Cataract and Activates the Unfolded Protein Response in Mouse Lenses
Jiani Li, Xuhua Tan, Qihang Sun, Xuri Li, Rongyuan Chen, Lixia Luo
Invest Ophthalmol Vis Sci. 2022 Sep; 63(10): 1. Published online 2022 Sep 1. doi: 10.1167/iovs.63.10.1
PMCID:
PMC9440611
AbstractArticlePDF–10M
11.
A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family
Ke Yao, Chongfei Jin, Ning Zhu, Wei Wang, Renyi Wu, Jin Jiang, Xingchao Shentu
Mol Vis. 2008; 14: 1272–1276. Published online 2008 Jul 9.
PMCID:
PMC2447816
AbstractArticlePDF–3.5M
12.
A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family
Kaijie Wang, Binbin Wang, Jing Wang, Shiyi Zhou, Bo Yun, Peisu Suo, Jie Cheng, Xu Ma, Siquan Zhu
Mol Vis. 2009; 15: 2813–2820. Published online 2009 Dec 16.
PMCID:
PMC2794658
AbstractArticlePDF–3.7M
13.
Mutation analysis of congenital cataract in a Chinese family identified a novel missense mutation in the connexin 46 gene (GJA3)
Zhou Zhou, Shanshan Hu, Binbin Wang, Nan Zhou, Shiyi Zhou, Xu Ma, Yanhua Qi
Mol Vis. 2010; 16: 713–719. Published online 2010 Apr 21.
PMCID:
PMC2861125
AbstractArticlePDF–2.3M
14.
A novel WFS1 variant associated with isolated congenital cataracts
Angela Krutish, James Elmore, Werner Ilse, Janine L. Johnston, Dustin Hittel, Marina Kerr, Aneal Khan, Cheryl Rockman-Greenberg, Aizeddin A. Mhanni, on behalf of the Canadian Prairie Metabolic Network (CPMN)
Cold Spring Harb Mol Case Stud. 2023 Feb; 9(1): a006259. doi: 10.1101/mcs.a006259
PMCID:
PMC10111794
AbstractArticlePDF–527K
15.
A Novel CRYGD Mutation (p.Trp43Arg) Causing Autosomal Dominant Congenital Cataract in a Chinese Family
Binbin Wang, Changhong Yu, Yi-Bo Xi, Hong-Chen Cai, Jing Wang, Sirui Zhou, Shiyi Zhou, Yi Wu, Yong-Bin Yan, Xu Ma, Lixin Xie
Hum Mutat. 2011 Jan; 32(1): E1939–E1947. doi: 10.1002/humu.21386
PMCID:
PMC3035819
AbstractArticlePDF–206K
16.
A novel mutation in γD-crystallin associated with autosomal dominant congenital cataract in a Chinese family
Li Wang, Xueli Chen, Yi Lu, Jihong Wu, Boqi Yang, Xinghuai Sun
Mol Vis. 2011; 17: 804–809. Published online 2011 Mar 26.
PMCID:
PMC3081795
AbstractArticlePDF–1.0M
17.
A novel T→G splice site mutation of CRYBA1/A3 associated with autosomal dominant nuclear cataracts in a Chinese family
Zhenfei Yang, Dongmei Su, Qian Li, Fan Yang, Zicheng Ma, Siquan Zhu, Xu Ma
Mol Vis. 2012; 18: 1283–1288. Published online 2012 May 15.
PMCID:
PMC3365137
AbstractArticlePDF–839K
18.
A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract
Juhua Yang, Yihua Zhu, Feng Gu, Xiang He, Zongfu Cao, Xuexi Li, Yi Tong, Xu Ma
Mol Vis. 2008; 14: 727–731. Published online 2008 Apr 18.
PMCID:
PMC2324115
AbstractArticlePDF–13M
19.
A novel beaded filament structural protein 1 (BFSP1) gene mutation associated with autosomal dominant congenital cataract in a Chinese family
Han Wang, Tianxiao Zhang, Di Wu, Jinsong Zhang
Mol Vis. 2013; 19: 2590–2595. Published online 2013 Dec 27.
PMCID:
PMC3874047
AbstractArticlePDF–880K
20.
Endogenous retroviral insertion in Cryge in the mouse No3 cataract mutant
Nabanita Nag, Katherine Peterson, Keith Wyatt, Sonja Hess, Sugata Ray, Jack Favor, Debora Bogani, Mary Lyon, Graeme Wistow
Genomics. Author manuscript; available in PMC 2008 Apr 1.
Published in final edited form as: Genomics. 2007 Apr; 89(4): 512–520. Published online 2007 Jan 12. doi: 10.1016/j.ygeno.2006.12.003
PMCID:
PMC1868556
AbstractArticlePDF–528K

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