Association between ARID2 and RAS-MAPK pathway in intellectual disability and short stature.

Eungu KangMinji KangYounghee JuSang-Joon LeeYong-Seok LeeDong-Cheol WooYoung Hoon SungIn-Jeoung BaekWoo Hyun ShimWoo-Chan SonIn Hee ChoiEul-Ju SeoHan-Wook YooYong-Mahn HanBeom-Hee Lee

Published in: Journal of medical genetics (2020)

ARID2 haploinsufficiency is associated with enhanced RAS-MAPK activity, leading to reduced IFITM1 and CAV-1 expression, thereby increasing ERK activity. This altered interaction might lead to abnormal neuronal development and a short stature.

Keyphrases

intellectual disability
signaling pathway
pi k akt
autism spectrum disorder
oxidative stress
poor prognosis
wild type
cell proliferation
growth hormone
binding protein
subarachnoid hemorrhage