Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C144S
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NOTCH3

NM_000435.3:p.C144S

Associated Papers

Genetic and imaging features of CADASIL patients with acute ischemic stroke.

Park JY et al.

Scientific Reports, 2025

40379656 (PubMed )
Supplement: 41598_2025_220_MOESM1_ESM.docx

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

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

Headache and NOTCH3 Gene Variants in Patients with CADASIL.

Szymanowicz O et al.

Neurology International, 2023

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

Genetic spectrum of NOTCH3 and clinical phenotype of CADASIL patients in different populations.

Ni W et al.

Cns Neuroscience & Therapeutics, 2022

Clinical and Genetic Aspects of CADASIL.

Mizuno T et al.

Frontiers in Aging Neuroscience, 2020

32457593 (PubMed )
Supplement: Table_1.DOCX

Clinical and imaging features of patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy and cysteine-sparing NOTCH3 mutations.

Kim H et al.

Plos One, 2020

32555735 (PubMed )
Supplement: pone.0234797.s002.xlsx › Dataset

CADASIL brain vessels show a HTRA1 loss-of-function profile.

Zellner A et al.

Acta Neuropathologica, 2018

Clinical features and mutation spectrum in Chinese patients with CADASIL: A multicenter retrospective study.

Chen S et al.

Cns Neuroscience & Therapeutics, 2017

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: Phenotypic and mutational spectrum in patients from mainland China.

Yin X et al.

The International Journal of Neuroscience, 2015

Sequestration of latent TGF-β binding protein 1 into CADASIL-related Notch3-ECD deposits.

Kast J et al.

Acta Neuropathologica Communications, 2014

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

Genetics of ischemic stroke: inheritance of a sporadic disorder.

Ross OA et al.

Current Neurology and Neuroscience Reports, 2009

NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL.

Dichgans M et al.

Neurology, 2001

Characteristics of CADASIL in Chinese mainland patients.

Tan QC et al.

Neurology India, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."