Cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma gene.

Ying HongAnnette KeylockBarbara JensenThomas S JacquesOlumide OgunbiyiEbun OmoyinmiDawn SaundersAndrew A MallickMadeleine TooleyRuth Newbury-EcobJulia RankinHywel J WilliamsVijeya GanesanPaul A BroganDespina Eleftheriou

Published in: Neurology. Genetics (2020)

We provide a possible mechanism for the arteriopathy associated with heterozygous CBL variants. Identification of the key role for the RAS-MAPK pathway in CBL-mediated cerebral arteriopathy could facilitate identification of novel or repurposed druggable targets for treating these patients and may also provide therapeutic clues for other cerebral arteriopathies.

Keyphrases

subarachnoid hemorrhage
copy number
end stage renal disease
early onset
ejection fraction
newly diagnosed
cerebral ischemia
oxidative stress
signaling pathway
peritoneal dialysis
genome wide
diffuse large b cell lymphoma
dna methylation
gene expression
pi k akt
blood brain barrier
patient reported