Pathogenic variations in MAML2 and MAMLD1 contribute to congenital hypothyroidism due to dyshormonogenesis by regulating the Notch signalling pathway.

Feng-Yao Wu,Rui-Meng Yang,Hai-Yang Zhang,Ming Zhan,Ping-Hui Tu,Ya Fang,Cao-Xu Zhang, Shi-Yang Song,Mei Dong,Ren-Jie Cui,Xiao-Yu Liu,Liu Yang,Chen-Yan Yan,Feng Sun,Rui-Jia Zhang,Zheng Wang,Jun Liang,Huai-Dong Song,Feng Cheng,Shuang-Xia Zhao

Journal of medical genetics（2023）

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摘要

This study identified three mastermind-like family gene variants in CH and revealed that both canonical and non-canonical Notch signalling affected thyroid hormone biosynthesis.

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关键词

congenital, hereditary, and neonatal diseases and abnormalities,endocrine system diseases,genetics, medical

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