Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C212Y
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NOTCH3

NM_000435.3:p.C212Y

Associated Papers

Extracellular domain shedding of NOTCH3 during endocytosis associated with heterogeneity between different CADASIL mutant activation mechanisms.

Hosseini-Alghaderi S et al.

Cell Communication and Signaling : Ccs, 2025

Pro-Hemorrhagic Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Associated with NOTCH3 p.R75P Mutation with Low Vascular NOTCH3 Aggregation Property.

Ishiyama H et al.

Annals of Neurology, 2024

38520151 (PubMed )
Supplement: supplement_1.docx

SNP and Structural Study of the Notch Superfamily Provides Insights and Novel Pharmacological Targets against the CADASIL Syndrome and Neurodegenerative Diseases.

Papageorgiou L et al.

Genes, 2024

Three-tiered EGFr domain risk stratification for individualized NOTCH3-small vessel disease prediction.

Hack RJ et al.

Brain : a Journal of Neurology, 2023

36535904 (PubMed )
Supplement: awac486_supplementary_data.pdf

Clinical and Genetic Aspects of CADASIL.

Mizuno T et al.

Frontiers in Aging Neuroscience, 2020

32457593 (PubMed )
Supplement: Table_1.DOCX

Multiple sclerosis or "inflammatory CADASIL?": Case Report and review of the literature.

Schiess N et al.

Clinical Neurology and Neurosurgery, 2018

Genotype-phenotype correlations of cysteine replacement in CADASIL.

Matsushima T et al.

Neurobiology of Aging, 2017

Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL.

Rutten JW et al.

Annals of Clinical and Translational Neurology, 2016

Genotypic and phenotypic spectrum of CADASIL in Japan: the experience at a referral center in Kumamoto University from 1997 to 2014.

Ueda A et al.

Journal of Neurology, 2015

Cysteine-sparing CADASIL mutations in NOTCH3 show proaggregatory properties in vitro.

Wollenweber FA et al.

Stroke, 2015

Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.

Rutten JW et al.

Expert Review of Molecular Diagnostics, 2014

24844136 (PubMed )
Supplement: supplement_2.doc

CADASIL and autoimmunity: coexistence in a family with the R169C mutation at exon 4 of the NOTCH3 gene.

Paraskevas GP et al.

Cerebrovascular Diseases (basel, Switzerland), 2014

CADASIL with cord involvement associated with a novel and atypical NOTCH3 mutation.

Bentley P et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2011

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