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Research Article

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

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Pages 883-889 | Published online: 02 Jul 2009

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Wei He, Xin Li, Jiajing Chen, Ling Xu, Feng Zhang, Qiushi Dai, Hao Cui, Duen-Mei Wang, Jun Yu, Songnian Hu & Shan Lu. (2011) Genetic linkage analyses and Cx50 mutation detection in a large multiplex Chinese family with hereditary nuclear cataract. Ophthalmic Genetics 32:1, pages 48-53.
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Jochen Graw & Jana Löster. (2003) Developmental genetics in ophthalmology. Ophthalmic Genetics 24:1, pages 1-33.
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Articles from other publishers (49)

Eric C. Beyer, Richard T. Mathias & Viviana M. Berthoud. (2022) Loss of fiber cell communication may contribute to the development of cataracts of many different etiologies. Frontiers in Physiology 13.
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Yumeng Shi, Xinbo Li & Jin Yang. (2022) Mutations of CX46/CX50 and Cataract Development. Frontiers in Molecular Biosciences 9.
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Viviana M. Berthoud, Junyuan Gao, Peter J. Minogue, Oscar Jara, Richard T. Mathias & Eric C. Beyer. (2020) Connexin Mutants Compromise the Lens Circulation and Cause Cataracts through Biomineralization. International Journal of Molecular Sciences 21:16, pages 5822.
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Viviana M. Berthoud, Junyuan Gao, Peter J. Minogue, Oscar Jara, Richard T. Mathias & Eric C. Beyer. (2019) The Connexin50D47A Mutant Causes Cataracts by Calcium Precipitation. Investigative Opthalmology & Visual Science 60:6, pages 2336.
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Kenta Wada, Shumpei P. Yasuda & Yoshiaki Kikkawa. (2019) Genetic modifiers of rodent animal models: the role in cataractogenesis. Experimental Animals 68:4, pages 397-406.
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Oscar Jara, Peter J. Minogue, Viviana M. Berthoud & Eric C. Beyer. (2018) Chemical chaperone treatment improves levels and distributions of connexins in Cx50D47A mouse lenses. Experimental Eye Research 175, pages 192-198.
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Chao Shen, Jingbing Wang, Xiaotang Wu, Fuchao Wang, Yang Liu, Xiaoying Guo, Lina Zhang, Yanfei Cao, Xiuhua Cao & Hongxing Ma. (2017) Next-generation sequencing for D47N mutation in Cx50 analysis associated with autosomal dominant congenital cataract in a six-generation Chinese family. BMC Ophthalmology 17:1.
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Viviana M. Berthoud, Peter J. Minogue, Paul A. Lambert, Joseph I. Snabb & Eric C. Beyer. (2016) The Cataract-linked Mutant Connexin50D47A Causes Endoplasmic Reticulum Stress in Mouse Lenses. Journal of Biological Chemistry 291:34, pages 17569-17578.
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Richard T. Mathias, Thomas W. White & Xiaohua Gong. (2010) Lens Gap Junctions in Growth, Differentiation, and Homeostasis. Physiological Reviews 90:1, pages 179-206.
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Jochen Graw. (2009) Mouse models of cataract. Journal of Genetics 88:4, pages 469-486.
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Lien Dejager, Claude Libert & Xavier Montagutelli. (2009) Thirty years of Mus spretus: a promising future. Trends in Genetics 25:5, pages 234-241.
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Adam M. DeRosa, Gülistan Meşe, Leping Li, Caterina Sellitto, Peter R. Brink, Xiaohua Gong & Thomas W. White. (2009) The cataract causing Cx50-S50P mutant inhibits Cx43 and intercellular communication in the lens epithelium. Experimental Cell Research 315:6, pages 1063-1075.
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Eric A. Banks, Masoud M. Toloue, Qian Shi, Zifei Jade Zhou, Jialu Liu, Bruce J. Nicholson & Jean X. Jiang. (2009) Connexin mutation that causes dominant congenital cataracts inhibits gap junctions, but not hemichannels, in a dominant negative manner. Journal of Cell Science 122:3, pages 378-388.
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Viviana M. Berthoud & Eric C. Beyer. (2009) Oxidative Stress, Lens Gap Junctions, and Cataracts. Antioxidants & Redox Signaling 11:2, pages 339-353.
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Eric A. Banks, X. Sean Yu, Qian Shi & Jean X. Jiang. (2007) Promotion of lens epithelial-fiber differentiation by the C-terminus of connexin 45.6 – a role independent of gap junction communication. Journal of Cell Science 120:20, pages 3602-3612.
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June Chung, Viviana M. Berthoud, Layne Novak, Rebecca Zoltoski, Benjamin Heilbrunn, Peter J. Minogue, Xiaoqin Liu, Lisa Ebihara, Jer Kuszak & Eric C. Beyer. (2007) Transgenic overexpression of connexin50 induces cataracts. Experimental Eye Research 84:3, pages 513-528.
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Chun-hong Xia, Debra Cheung, Adam M. DeRosa, Bo Chang, Woo-Kuen Lo, Thomas W. White & Xiaohua Gong. (2006) Knock-in of α3 connexin prevents severe cataracts caused by an α8 point mutation. Journal of Cell Science 119:10, pages 2138-2144.
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Chun-hong XiaHaiquan LiuDebra CheungCatherine ChengEddie WangXin DuBruce BeutlerWoo-Kuen LoXiaohua Gong. (2006) Diverse gap junctions modulate distinct mechanisms for fiber cell formation during lens development and cataractogenesis. Development 133:10, pages 2033-2040.
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Viviana M. Berthoud, Peter J. Minogue, Jun Guo, Edward K. Williamson, Xiaorong Xu, Lisa Ebihara & Eric C. Beyer. (2003) Loss of function and impaired degradation of a cataract-associated mutant connexin50. European Journal of Cell Biology 82:5, pages 209-221.
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Jay D. PalXiaoqin LiuDonna Mackay, Alan Shiels, Viviana M. Berthoud, Eric C. Beyer & Lisa Ebihara. (2000) Connexin46 mutations linked to congenital cataract show loss of gap junction channel function. American Journal of Physiology-Cell Physiology 279:3, pages C596-C602.
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