A novel missense mutation locus of cadherin 23 and the interaction of cadherin 23 and protocadherin 15 in a patient with usher syndrome

Zheng Chuanzhen; Ren Xinjun; Xing Dongjun; Bu Shaochong; Wen Dejia; He Ye; Zhang Jinping; Dong Lijie; Li Xiaorong

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A novel missense mutation locus of cadherin 23 and the interaction of cadherin 23 and protocadherin 15 in a patient with usher syndrome

机译：一种新的菌蛋白23的小说畸变突变基因座及钙粘蛋白23和Protocadherin 15在患者综合征患者中的相互作用

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《Ophthalmic genetics》 |2020年第5期|共4页
作者
Zheng Chuanzhen; Ren Xinjun; Xing Dongjun; Bu Shaochong; Wen Dejia; He Ye; Zhang Jinping; Dong Lijie; Li Xiaorong;
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正文语种 eng
中图分类眼科学;
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1. Phenotype of Usher syndrome type Ⅱ assosiated with compound missense mutations of c.721 CT and c.1969 CT in MYO7A in a Chinese Usher syndrome family [J] . Wei, Zhai, Xin, 国际眼科杂志：英文版 . 2015,第004期
2. A novel DLL4 missense mutation in a Chinese patient with Adams-Oliver syndrome [J] . Xue Yu, Xue Zhang, Rong-Rong Wang, 中华医学杂志（英文版） . 2019,第014期
3. A novel missense mutation of the ubiquitin protein ligase E3A gene in a patient with Angelman syndrome [J] . BAI Jin-li, QU Yu-jin, ZOU Li-ping, 中华医学杂志：英文版 . 2011,第001期
4. A novel missense mutation of the ubiquitin protein ligase E3A gene in a patient with Angelman syndrome [J] . BAI Jin-li, QU Yu-jin, ZOU Li-ping, 中华医学杂志（英文版） . 2011,第001期
5. Missense mutations of the fibrillin-1 gene in two Chinese patients with severe Marfan syndrome [J] . 中华医学杂志（英文版） . 2001,第005期
6. Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. [J] . Roux AF, Faugere V, Le Guedard S, Journal of Medical Genetics . 2006,第9期

机译：对一组Usher患者中USH1基因突变的频率进行的调查显示，钙粘着蛋白23和原粘连蛋白15基因的重要性，发现检出率超过90％。
7. Noddy, a mouse harboring a missense mutation in protocadherin-15, reveals the impact of disrupting a critical interaction site between tip-link cadherins in inner ear hair cells [J] . The Journal of Neuroscience: The Official Journal of the Society for Neuroscience . 2013,第10期

机译：Noddy，一种在protocadherin-15中带有错义突变的小鼠，揭示了破坏内耳毛细胞中尖端连接钙粘着蛋白之间关键相互作用位点的影响
8. Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans. [J] . Zheng QY, Yan D, Ouyang XM, Human Molecular Genetics . 2005,第1期

机译：小鼠和人类中编码钙粘蛋白23和原钙粘蛋白15的基因突变引起的耳聋双基因遗传。
9. Regulation of cadherin-cadherin interaction:secondary structure of the HAV and ADT peptides derived from human E-cadherin sequence [C] . Christine R.Xu, Ernawati Sinaga, Irwan T.Makagiansar, the International Peptide Symposium . 2001

机译：钙粘蛋白 - 钙粘蛋白相互作用的调节：衍生自人E-Cadherin序列的HAV和ADT肽的二级结构
10. Molecules of mechanotransduction. Cadherin 23 and protocadherin 15 interact to form tip-link filaments. [D] . Kazmierczak, Piotr. 2009

机译：机械转导的分子。钙黏着蛋白23和原钙黏着蛋白15相互作用形成末端连接长丝。
11. Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90 [O] . A‐F Roux, V Faugère, S Le Guédard, 2006

机译：对一组Usher患者中USH1基因突变的频率进行的调查显示钙粘着蛋白23和原钙粘着蛋白15基因的重要性并建立了90％以上的检出率
12. Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90% [O] . Roux, A‐F, Faugère, V, Guédard, S Le, 2006

机译：对一组Usher患者中USH1基因突变的频率进行的调查显示，钙粘着蛋白23和原钙粘着蛋白15基因的重要性，并建立了90％以上的检出率
13. E-Cadherin as a Chemotherapy Resistance Mechanism on Metastatic Breast Cancer. Annual Summary Report December 15, 2009-December 14, 2010 [R] . Chao, Y. 2011

机译：E-Cadherin作为转移性乳腺癌的化疗耐药机制。年度总结报告2009年12月15日 - 2010年12月14日

A novel missense mutation locus of cadherin 23 and the interaction of cadherin 23 and protocadherin 15 in a patient with usher syndrome

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