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

Feng-Yao WuRui-Meng YangHai-Yang ZhangMing ZhanPing-Hui TuYa FangCao-Xu ZhangShi-Yang SongMei DongRen-Jie CuiXiao-Yu LiuLiu YangChen-Yan YanFeng SunRui-Jia ZhangZheng WangJun LiangHuai-Dong SongFeng ChengShuang-Xia Zhao

Published in: Journal of medical genetics (2023)

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.

Keyphrases

copy number
genome wide
single cell
gene expression
dna methylation
cell wall
smoking cessation