Article
Mutated SASH1 promotes Mitf expression in a heterozygous mutated SASH1 knock‑in mouse model.
International journal of molecular medicine - 1 Sept 2020
Xu Zexi, Li Yadong, Wang Dahong, Wu Daoqiu, Wang Jinyun, Chen Lian, Deng Yinqian, Zhang Jing, Wu Zhixiong, Wan Xin, Liu Qianfan, Huang Hai, Hu Pingsheng, Zeng Jiawei, Zhou Ding'an
Abstract excerpt
The SAM and SH3 domain‑containing 1 (SASH1) genes have been identified as the causal genes of dyschromatosis universalis hereditaria (DUH); these genes cause the pathological phenotypes of DUH, and SASH1 variants have been shown to regulate the abnormal pigmentation phenotype in human skin in various genodermatoses. However, investigations into the mutated SASH1 gene have been limited to in vitro studies. In the...
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