Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome

Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of chronic kidney disease in children. Human 16p11.2 deletions have been associated with CAKUT, but the responsible molecular mechanism remains to be illuminated. To explore this, we investigated 102 carriers of 1...

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Vydáno v:Kidney Int
Hlavní autoři: Yang, Nan, Wu, Nan, Dong, Shuangshuang, Zhang, Ling, Zhao, Yanxue, Chen, Weisheng, Du, Renqian, Song, Chengcheng, Ren, Xiaojun, Liu, Jiaqi, Pehlivan, Davut, Liu, Zhenlei, Jia, Rao, Wang, Chunyan, Zhao, Sen, Breman, Amy M., Xue, Huadan, Sun, Hao, Shen, Jianxiong, Zhang, Shuyang, Posey, Jennifer E., Xu, Hong, Jin, Li, Zhang, Jianguo, Liu, Pengfei, Sanna-Cherchi, Simone, Qiu, Guixing, Wu, Zhihong, Lupski, James R., Zhang, Feng
Médium: Artigo
Jazyk:Inglês
Vydáno: 2020
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7673260/
https://ncbi.nlm.nih.gov/pubmed/32450157
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.kint.2020.04.045
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