Abstract
The evolutionary highly conserved Notch pathway governs many cellular core processes including cell fate decisions. Although it is characterized by a simple molecular design, Notch signaling, which first developed in metazoans, represents one of the most important pathways that govern embryonic development. Consequently, a broad variety of independent inherited diseases linked to defective Notch signaling has now been identified, including Alagille, Adams-Oliver, and Hajdu-Cheney syndromes, CADASIL (cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy), early-onset arteriopathy with cavitating leukodystrophy, lateral meningocele syndrome, and infantile myofibromatosis. In this review, we give a brief overview on molecular pathology and clinical findings in congenital diseases linked to the Notch pathway. Moreover, we discuss future developments in basic science and clinical practice that may emerge from recent progress in our understanding of the role of Notch in health and disease.
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Abbreviations
- AD:
-
Autosomal dominant
- ALGS:
-
Alagille syndrome
- ARHGAP31:
-
RhoGTPase-activating protein 31
- BAV:
-
Bicuspid aortic valve
- BMP:
-
Bone morphogenetic protein
- CADASIL:
-
Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy
- CAVD:
-
Calcific aortic valve disease
- CHD:
-
Congenital heart disease
- cKO:
-
Conditional knockout
- CNS:
-
Central nervous system
- Dll:
-
Delta-like canonical Notch ligand
- DOCK:
-
Dedicator of cytokinesis
- E:
-
Embryonic day
- EGF:
-
Epidermal growth factor
- EMT:
-
Epithelial-to-mesenchymal transition
- ENU:
-
N-Ethyl N-nitrosourea
- EOGT:
-
EGF domain-specific O-linked N-acetylglucosamine transferase
- FGF:
-
Fibroblast growth factor
- HCS:
-
Hajdu-Cheney syndrome
- Hes:
-
Hairy and enhancer of split
- HLHS:
-
Hypoplastic left heart syndrome
- IM:
-
Infantile myofibromatosis
- Jag:
-
Jagged
- KO:
-
Knockout
- LMS:
-
Lateral meningocele syndrome
- LOF:
-
Loss of function
- LW:
-
Lateral wall
- MET:
-
Mesenchymal-to-epithelial transition
- NEPs:
-
Neuroepithelial cells
- NICD:
-
Notch intracellular domain
- NRR:
-
Negative regulatory region
- NSCs:
-
Neural stem cells
- OMIM:
-
Online Mendelian Inheritance in Man
- PEST sequence:
-
Peptide sequence that is rich in proline (P), glutamic acid (E), serine (S), and threonine (T)
- RBPJ:
-
Recombination signal binding protein for immunoglobulin kappa J region
- TAA:
-
Thoracic aortic aneurysms
- TOF:
-
Tetralogy of Fallot
- VSD:
-
Ventricular septal defect
- vSMC:
-
Vascular smooth muscle cell
- Wnt:
-
Wingless
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Reichrath, J., Reichrath, S. (2020). Notch Pathway and Inherited Diseases: Challenge and Promise. In: Reichrath, J., Reichrath, S. (eds) Notch Signaling in Embryology and Cancer. Advances in Experimental Medicine and Biology, vol 1218. Springer, Cham. https://doi.org/10.1007/978-3-030-34436-8_9
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