Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.Y1069C
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NOTCH3

NM_000435.3:p.Y1069C

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

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 features and spectrum of NOTCH3 variants in Finnish patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Mönkäre S et al.

Acta Neurologica Scandinavica, 2022

Clinical and Genetic Aspects of CADASIL.

Mizuno T et al.

Frontiers in Aging Neuroscience, 2020

32457593 (PubMed )
Supplement: Table_1.DOCX

Aggregation of population-based genetic variation over protein domain homologues and its potential use in genetic diagnostics.

Wiel L et al.

Human Mutation, 2017

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

Hypomorphic Notch 3 alleles link Notch signaling to ischemic cerebral small-vessel disease.

Arboleda-Velasquez JF et al.

Proceedings of the National Academy of Sciences of the United States of America, 2011

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in an Israeli family.

Shahien R et al.

Neuropsychiatric Disease and Treatment, 2011

Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients.

Tikka S et al.

Brain : a Journal of Neurology, 2009

Autosomal dominant cerebral arteriopathy: neuropsychiatric syndrome in a family.

Adair JC et al.

Neuropsychiatry, Neuropsychology, and Behavioral Neurology, 1998

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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."