Article
Rare Loss-of-Function Variants in NPC1 Predispose to Human Obesity.
Diabetes - 1 Apr 2017
Liu Ruixin, Zou Yaoyu, Hong Jie, Cao Min, Cui Bin, Zhang Huiwen, Chen Maopei, Shi Juan, Ning Tinglu, Zhao Shaoqian, Liu Wen, Xiong Hui, Wei Cuijie, Qiu Zhengqing, Gu Weiqiong, Zhang Yifei, Li Wanyu, Miao Lin, Sun Yingkai, Yang Minglan, Wang Rui, Ma Qinyun, Xu Min, Xu Yu, Wang Tiange, Chan Kei-Hang Katie, Zuo Xianbo, Chen Haoyan, Qi Lu, Lai Shenghan, Duan Shumin, Song Baoliang, Bi Yufang, Liu Simin, Wang Weiqing, Ning Guang, Wang Jiqiu
Abstract excerpt
Some Shanghai Clinical Center f a role of Niemann-Pick type C1 (NPC1) for obesity traits. However, whether the loss-of-function mutations in NPC1 cause adiposity in humans remains unknown. We recruited 25 probands with rare autosomal-recessive Niemann-Pick type C (NP-C) disease and their parents in assessment of the effect of heterozygous NPC1 mutations on adiposity. We found that male NPC1+/- carriers had a...
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