2026-07-21T08:24:34Zhttps://repisalud.isciii.es/rest/oai/requestoai:repisalud.isciii.es:20.500.12105/73182024-09-27T08:28:43Zcom_20.500.12105_19604com_20.500.12105_2051col_20.500.12105_19605
Repisalud
author
Luxan, Guillermo
author
D’Amato, Gaetano
author
de la Pompa, Jose Luis
funder
Ministerio de Economía y Competitividad (España)
funder
Unión Europea. Comisión Europea
funder
Fundación ProCNIC
2019-03-11T14:13:52Z
2019-03-11T14:13:52Z
2016
En: Nakanishi, T. et al. Etiology and Morphogenesis of Congenital Heart Disease. Tokyo: Springer; 2016. 103-114
10.1007/978-4-431-54628-3_12
978-4-431-54628-3
http://hdl.handle.net/20.500.12105/7318
The heart is the first organ to develop in the embryo, and its formation is an exquisitely regulated process. Inherited mutations in genes required for cardiac development may cause congenital heart disease (CHD), manifested in the newborn or in the adult. Notch is an ancient, highly conserved signaling pathway that communicates adjacent cells to regulate cell fate specification, differentiation, and tissue patterning. Mutations in Notch signaling elements result in cardiac abnormalities in mice and humans, demonstrating an essential role for Notch in heart development. Recent work has shown that endocardial Notch activity orchestrates the early events as well as the patterning and morphogenesis of the ventricular chambers in the mouse and that inactivating mutations in the NOTCH pathway regulator MIND BOMB-1 (MIB1) cause left ventricular non-compaction (LVNC), a cardiomyopathy of poorly understood etiology. Here, we review these data that shed some light on the etiology of LVNC that at least in the case of that caused by MIB1 mutations has a developmental basis.
eng
Ventricles
Trabeculation
Compaction
Cardiomyopathy
LVNC
NOTCH
Intercellular Signaling in Cardiac Development and Disease: The NOTCH pathway
book part
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URL
https://repisalud.isciii.es/bitstreams/6e9b6f33-533c-43f4-bfd0-227351d25f4d/download
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application/pdf
IntercellularSignalingCardiacDevelopment_2016.pdf
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IntercellularSignalingCardiacDevelopment_2016.pdf.txt