An adult case of NOTCH3 mutation in pulmonary artery hypertension
Sign Up to like & getrecommendations! Published in 2022 at "Pulmonary Circulation"
DOI: 10.1002/pul2.12050
Abstract: Pulmonary arterial hypertension (PAH) is a progressively fatal disease process affecting the small distal arteries of the pulmonary vasculature. It is characterized by vascular remodeling, proliferation, and subsequent vasocontraction leading to right heart failure. In… read more here.
Keywords: case notch3; hypertension; notch3 mutation; pulmonary artery ... See more keywords
Generation and characterization of the human iPSC line IDISi001-A isolated from blood cells of a CADASIL patient carrying a NOTCH3 mutation.
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DOI: 10.1016/j.scr.2018.01.023
Abstract: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common form of hereditary stroke disorder. It is caused by mutations in NOTCH3 that lead to progressive degeneration of the smooth muscle… read more here.
Keywords: patient carrying; carrying notch3; notch3 mutation; blood ... See more keywords
A novel NOTCH3 mutation and its clinical, neuroimaging and pathological presentation in a Chinese patient with CADASIL: A case report.
Sign Up to like & getrecommendations! Published in 2022 at "Medicine"
DOI: 10.1097/md.0000000000028870
Abstract: RATIONALE Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common form of familial cerebral small vessel disease in adults, and is caused by NOTCH3 mutations. However, individual symptom types, onset,… read more here.
Keywords: patient; case; report; novel notch3 ... See more keywords