Article
Truncated C-terminus of fibrillin-1 induces Marfanoid-progeroid-lipodystrophy (MPL) syndrome in rabbit.
Disease models & mechanisms - 9 Apr 2018
Chen Mao, Yao Bing, Yang Qiangbing, Deng Jichao, Song Yuning, Sui Tingting, Zhou Lina, Yao HaoBing, Xu Yuanyuan, Ouyang Hongsheng, Pang Daxin, Li Zhanjun, Lai Liangxue
Abstract excerpt
Various clinical differences have been observed between patients with the FBN1 gene mutation and those with the classical Marfan phenotype. Although FBN1 knockout (KO) or dominant-negative mutant mice are widely used as an animal model for Marfan syndrome (MFS), these mice cannot recapitulate the genotype/phenotype relationship of Marfanoid-progeroid-lipodystrophy (MPL) syndrome, which is caused by a mutation in...
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