Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.S118C
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NOTCH3

NM_000435.3:p.S118C

Associated Papers

Commissural Fiber Disruption Is Associated With Symptom Onset in Cerebral Autosomal-Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.

Hsu SL et al.

Journal of the American Heart Association, 2025

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

Impaired cerebral interstitial fluid dynamics in cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy.

Hsu SL et al.

Brain Communications, 2024

Contribution of the APOE Genotype to Cognitive Impairment in Individuals With NOTCH3 Cysteine-Altering Variants.

Cheng YW et al.

Journal of the American Heart Association, 2023

37982214 (PubMed )
Supplement: JAH3-12-e032689-s001.pdf

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

Structural changes in NOTCH3 induced by CADASIL mutations: Role of cysteine and non-cysteine alterations.

Lee SJ et al.

The Journal of Biological Chemistry, 2023

Update on the Epidemiology, Pathogenesis, and Biomarkers of Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.

Yamamoto Y et al.

Journal of Clinical Neurology (seoul, Korea), 2023

Cerebral Microbleed Burdens in Specific Brain Regions Are Associated With Disease Severity of Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.

Chung CP et al.

Journal of the American Heart Association, 2020

Clinical and Genetic Aspects of CADASIL.

Mizuno T et al.

Frontiers in Aging Neuroscience, 2020

32457593 (PubMed )
Supplement: Table_1.DOCX

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

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

Spectrum of NOTCH3 mutations in Korean patients with clinically suspicious cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

Kim YE et al.

Neurobiology of Aging, 2014

Clinical and genetic features in a family with CADASIL and high lipoprotein (a) values.

Gong M et al.

Journal of Neurology, 2010

Population-specific spectrum of NOTCH3 mutations, MRI features and founder effect of CADASIL in Chinese.

Lee YC et al.

Journal of Neurology, 2009

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: two novel mutations in the NOTCH3 gene in Chinese.

Lee YC et al.

Journal of the Neurological Sciences, 2006

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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."