Notch signalling is an evolutionarily highly conserved signalling mechanism governing
differentiation and regulating homeostasis in many tissues. In this review, we discuss recent …

Vascular aging affects multiple organ systems, including the brain, where it can lead to
vascular dementia. However, a concrete understanding of how aging specifically affects the …

Notch signaling is conserved in C. elegans, Drosophila, and mammals. Among the four
NOTCH genes in humans, NOTCH1, NOTCH2, and NOTCH3 are known to cause …

Loss of arterial smooth muscle cells (SMCs) and abnormal accumulation of the extracellular
domain of the NOTCH3 receptor (Notch3ECD) are the 2 core features of CADASIL, a …

Cerebral small vessel disease (cSVD) encompasses a heterogeneous group of age-related
small vessel pathologies that affect multiple regions. Disease manifestations range from …

Mutations in the NOTCH3 gene can lead to small-vessel disease in humans, including the
well-characterized cerebral autosomal dominant arteriopathy with subcortical infarcts and …

Purpose This report describes two cases with homozygous loss of function variants in
NOTCH3 along with their clinical manifestations. Findings These patients presented with a …

Objective Heterozygous NOTCH3 variants are known to cause cerebral autosomal dominant
arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), with patients …

Background NOTCH3 encodes a transmembrane receptor critical for vascular smooth
muscle cell function. NOTCH3 variants are the leading cause of hereditary cerebral small …

SNPs associated with human stroke risk have been identified in the intergenic region
between Forkhead family transcription factors FOXF2 and FOXQ1, but we lack a mechanism …