Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C106R
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NOTCH3

NM_000435.3:p.C106R

Associated Papers

The role of NOTCH3 in CADASIL pathogenesis: insights into novel therapies.

Felix-Ilemhenbhio F et al.

Brain Research, 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

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

Age-related loss of Notch3 underlies brain vascular contractility deficiencies, glymphatic dysfunction, and neurodegeneration in mice.

Romay MC et al.

The Journal of Clinical Investigation, 2024

38015629 (PubMed )
Supplement: jci-134-166134-s239.xlsx › 20220624_PAS_Sample_Sub

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

CADASIL from Bench to Bedside: Disease Models and Novel Therapeutic Approaches.

Manini A et al.

Molecular Neurobiology, 2021

Human iPS cell-derived mural cells as an in vitro model of hereditary cerebral small vessel disease.

Yamamoto Y et al.

Molecular Brain, 2020

Clinical and Genetic Aspects of CADASIL.

Mizuno T et al.

Frontiers in Aging Neuroscience, 2020

32457593 (PubMed )
Supplement: Table_1.DOCX

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

Simultaneous impairment of intracranial and peripheral artery vasoreactivity in CADASIL patients.

Fujiwara Y et al.

Cerebrovascular Diseases (basel, Switzerland), 2012

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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."