부산대학교 도서관

Keywords: gene mutation; heritable pulmonary arterial hypertension; NOTCH3 mutation EN gene mutation heritable pulmonary arterial hypertension NOTCH3 mutation 1 4 4 03/30/22 20220101 NES 220101 INTRODUCTION Pulmonary arterial hypertension (PAH) is a progressively fatal disease process affecting the small distal arteries of the pulmonary vasculature. Missense mutations in I NOTCH3 i lead to pulmonary artery smooth muscle cell proliferation, vasoconstriction, and reduced apoptosis.5 Here, we report the first identified case of I NOTCH3 i mutation in an adult patient with IPAH. The mutation was found to affect the EGF-like repeat domain of the Notch signaling protein, which has been implicated in prior studies examining I NOTCH3 i mutations and PAH.5,6 Our case contributes to the limited literature on I NOTCH3 i in PAH and is the first to demonstrate that this association can be found in adults. [Extracted from the article]