| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8633083 | Metabolism | 2018 | 9 Pages |
Abstract
In conclusion, HCS is a serious genetic disorder associated with NOTCH2 mutations. New experimental models have offered insight on mechanisms responsible for the manifestations of HCS.
Keywords
EGFMAMLNegative regulatory regionRbpjκCSLANKHeterodimerization domainTMDLNRNICDNLSCADASILHCsμCTRANKLNRRLMSlFngMESPDllcerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathyPestAnkyrinGenetic disordersHESMicrocomputed tomographyJaggedLunatic fringeNotch intracellular domaintransmembrane domainnuclear localization sequenceMastermind-likeRamepidermal growth factorDelta-likeJAGmarginal zonehairy and enhancer of splitNotchHeyOsteoporosisLeader peptidereceptor activator of nuclear factor kappa B ligand
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Authors
Ernesto Canalis,