NOTCH3 variant position is associated with NOTCH3 aggregation load in CADASIL vasculature.

Gido Gravesteijn Remco J Hack Adriaan A Mulder Minne N Cerfontaine Remco van DoornIngrid M HegemanCarolina R Jost Julie W Rutten Saskia A J Lesnik Oberstein

Published in: Neuropathology and applied neurobiology (2021)

CADASIL patients with an EGFr 7-34 variant have significantly less vascular NOTCH3 aggregation than patients with an EGFr 1-6 variant. This may be one of the factors underlying the difference in disease severity between NOTCH3cys EGFr 7-34 and EGFr 1-6 variants.

Keyphrases

small cell lung cancer
epidermal growth factor receptor
tyrosine kinase
cell proliferation
copy number
dna methylation
genome wide