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Results found new NOTCH3 missenses mutations in patients with pulmonary hypertension that were predicted to be likely pathogenic.
We present a Polish family with a previously unreported novel mutation in exon 12 c.1851C>C/G of the NOTCH3 gene and varying disease expression. One of the two family members with the confirmed mutation presented with all the main CADASIL symptoms; while, his affected father was nearly asymptomatic.
Overexpressing Notch3 protein upregulated Cdh1 expression and resulted in p27(Kip) accumulation by accelerating Skp2 degradation.
Notch2 (show NOTCH2 Proteins) and Notch3 inhibited both cell proliferation and cell apoptosis in BeWo and JAR (show MYO6 Proteins) trophoblast cell lines.
A rare 2182C>T mutation in exon 14 of the NOTCH3 gene was identified in all available cases
Loss of Notch3 expression is associated with small cell lung carcinoma.
Immunohistochemistry showed a reverse correlation between MUC2 and Notch3 or Jagged1 (P = 0.033 and P = 0.005, respectively) and between MUC5AC and Jagged1 or Hes1
Transfection of antisense oligonucleotides into CADASIL patient-derived cerebral vascular smooth muscle cells resulted in exon skipping in NOTCH3 protein without abrogating signalling.
The therapeutic potential of PKCiota-ELF3-NOTCH3 signal inhibition to more effectively treat KRAS LADC.
IL6 (show IL6 Proteins)/Notch3 signaling mediates hormone therapy resistance in metastatic breast cancer via self renewal of cancer stem cells.
Data indicate that Notch (show NOTCH1 Proteins) receptors Notch1 (show NOTCH1 Proteins) and Notch3 deficiency compromises pericyte function and contributes to vascular pathologies.
In this study, authors use a smooth muscle-specific (show EIF3K Proteins) deletion of Notch2 (show NOTCH2 Proteins) together with a global Notch3 deletion to produce mice with combinations of mutant and wild-type Notch2 (show NOTCH2 Proteins)/3 alleles in vascular smooth muscle cells
Elevated levels of TIMP3 and vitronectin, acting downstream of Notch3(ECD) deposition, play a role in CADASIL, producing divergent influences on early CBF deficits and later white matter lesions.
Mutant Notch3 accumulates in pericytes and causes progressive pericyte loss and BBB leakage in the cerebral cortex in CADASIL mouse model.
Relative to air-exposed controls, ozone increased bronchoalveolar lavage fluid protein, a marker of lung permeability, in all genotypes, but significantly greater concentrations were found in Notch4 (show NOTCH4 Proteins)-/- compared with wild-type and Notch3-/- mice.
The mechanism of Oncostatin M (show OSM Proteins) on cardiac ischemia/reperfusion injury is partly mediated by the Notch3/Akt (show AKT1 Proteins) pathway.
miR (show MLXIP Proteins)-7a regulates the differentiation of Muller glia through the suppression of Notch3 expression.
Study showed Notch3 expressed in proliferating hippocampal precursor cells and down-regulates their activation and proliferation; adult neurogenesis in CADASIL transgenic mice was altered prior to vascular abnormalities due to deficits in Notch3 signaling
NOTCH3, but not NOTCH2 (show NOTCH2 Proteins) protects vascular smooth muscle cell from apoptosis.
Notch3 protein activation in glomeruli promotes the development of progressive renal disease.
The Notch3 receptor is required earlier within the developing somite to regulate hematopoietic stem cell (HSC (show FUT1 Proteins)) emergence in a non-cell-autonomous manner.
90 % of proliferating radial glia express notch1a, notch1b and notch3. In contrast, the proliferating non-glial populations of the dorsal telencephalon and hypothalamus rarely express notch3 and about half express notch1a/1b.
Notch3 regulates oligodendrocyte precursor cells development and mbp (show MBP Proteins) gene expression in larvae, and maintains vascular integrity in adults.
new role for Notch (show NOTCH1 Proteins) signaling in brain vascular development whereby Notch3 signaling promotes expansion of the brain pericyte population
Notch3 activity gates neural stem cell activation in the adult pallium.
Cellular correlates of Notch (show NOTCH1 Proteins)-delta gene expression in the regenerating zebrafish retina.
knockdown of notch3 function in notch1a mutants leads to the loss of rhombomere boundary cells and causes neuronal hyperplasia
This gene encodes the third discovered human homologue of the Drosophilia melanogaster type I membrane protein notch. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signalling pathway that plays a key role in neural development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remains to be determined. Mutations in NOTCH3 have been identified as the underlying cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
Notch homolog 3
, neurogenic locus notch homolog protein 3
, Notch gene homolog 3