Publication
Title
Overlapping but distinct roles for NOTCH receptors in human cardiovascular disease
Author
Abstract
The NOTCH signalling pathway is an essential pathway, involved in many cellular processes, including cell fate decision, cell proliferation, and cell death and important in the development of most organs. Mutations in genes encoding components of the NOTCH signalling pathway lead to a spectrum of congenital disorders. Over the past decades, mutations in human NOTCH signalling genes have been identified in several diseases with cardiovascular involvement. NOTCH1 mutations have been described in bicuspid aortic valve disease, left‐sided congenital heart disease, and Adams‐Oliver syndrome. NOTCH2 mutations lead to the development of Alagille syndrome, while mutations in NOTCH3 cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. To date, mutations in NOTCH4 have not been associated with cardiovascular disease. This review focuses on the mutations described in NOTCH1, NOTCH2, and NOTCH3 and their associated cardiovascular phenotypes.
Language
English
Source (journal)
Clinical genetics. - Copenhagen
Publication
Hoboken : Wiley , 2019
ISSN
0009-9163
Volume/pages
95 :1 (2019) , p. 85-94
ISI
000453219300008
Pubmed ID
29767458
Full text (Publisher's DOI)
Full text (open access)
Full text (publisher's version - intranet only)
UAntwerpen
Faculty/Department
Research group
Project info
Bicuspid Related Aortopathy, a Vibrant Exploration (BRAVE).
GENOMED - Genomics in Medicine.
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identification
Creation 26.09.2018
Last edited 18.09.2021
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