Human peripheral blood lymphocytes and fibroblasts as Notch3 expression models.
Notch3 is a single pass transmembrane protein belonging to the Notch receptor family. Notch proteins are involved in a very conserved signaling system (Notch signaling) with a broad spectrum of functions, from cell proliferation and differentiation to ...
FEDERICO, ANTONIO +15 more
core +1 more source
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal-dominantly inherited cerebral small-vessel disease (SVD). CADASIL has diverse clinical features such as migraine with aura, dementia, and
Parasta Heidari +2 more
doaj +1 more source
Precise detection of a murine germline mutation of the <i>Notch3</i> gene associated with kyphosis and developmental disorders. [PDF]
Torres HM +6 more
europepmc +1 more source
Common NOTCH3 variants and cerebral small-vessel disease
Background and Purpose—The most common monogenic cause of cerebral small-vessel disease is cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, caused by NOTCH3 gene mutations.
Ahamad Hassan (787126) +14 more
core +1 more source
A Novel Mutation of the NOTCH3 Gene in A Young Patient Presenting with an Acute Stroke: Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL). [PDF]
Ragab I +5 more
europepmc +1 more source
A Japanese Case of CADASIL with a Rare Mutation in Exon 24 of the NOTCH3 Gene. [PDF]
Ebihara Y +6 more
europepmc +1 more source
Correction: Szymanowicz et al. Headache and NOTCH3 Gene Variants in Patients with CADASIL. Neurol. Int. 2023, 15, 1238-1252. [PDF]
Szymanowicz O +8 more
europepmc +1 more source
NOTCH3 Internal Tandem Duplication Defines a Novel Oncogenic Activation Mechanism of NOTCH Signaling. [PDF]
Gao H +11 more
europepmc +1 more source

