Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.R141C
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NOTCH3

NM_000435.3:p.R141C

Associated Papers

Assessment of Small Vessel Density Changes in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalophy (CADASIL) by High-Resolution Black-Blood MRI.

Yang Z et al.

Journal of Magnetic Resonance Imaging : Jmri, 2026

40838861 (PubMed )
Supplement: JMRI-63-157-s001.pdf

[Geographic Distribution of Patients with CADASIL in Japan].

Mukai M et al.

Rinsho Shinkeigaku = Clinical Neurology, 2025

The Spectrum of NOTCH3 Variants in an Australian CADASIL Cohort.

Guyler SK et al.

Genes, 2025

Comorbidity Between Recurrent Major Depressive Disorder and CADASIL: A Case Report With a Brief Review of Published Cases.

Wang YM et al.

Clinical Case Reports, 2025

Association between ischemic stroke, hemorrhagic stroke, dementia, and rs201118034 among general Taiwanese population.

Liaw YC et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2025

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

Felix-Ilemhenbhio F et al.

Brain Research, 2025

Meningeal lymphatic dysfunction in sporadic cerebral small vessel diseases and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy by DCE-MRI.

Wang H et al.

Quantitative Imaging in Medicine and Surgery, 2025

Association Between Vascular NOTCH3 Aggregation and Disease Severity in a CADASIL Cohort - Implications for NOTCH3 Variant-Specific Disease Prediction.

Cerfontaine MN et al.

Annals of Neurology, 2025

Occurrence, Risk Factors, and Prognosis of Acute Cerebral Microinfarcts in CADASIL.

Men X et al.

Annals of Clinical and Translational Neurology, 2025

Inducing mononuclear cells of patients with CADASIL to construct a CSVD disease model.

Wang Z et al.

European Journal of Medical Research, 2025

Intracerebral hemorrhage in CADASIL.

Hsu SL et al.

Journal of the Chinese Medical Association : Jcma, 2025

Synergistic effects of mutation and glycosylation on disease progression.

Suzuki S et al.

Frontiers in Molecular Biosciences, 2025

CADASIL or NOTCH3 mutaion spectrum diseases? Interpretation of NOTCH3 mutations and clinical heterogeneity in CADASIL.

Wang Y et al.

Frontiers in Neurology, 2025

The N-acetylglucosaminyltransferase Radical fringe contributes to defects in JAG1-dependent turnover and signaling of NOTCH3 CADASIL mutants.

Suzuki S et al.

The Journal of Biological Chemistry, 2024

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

First report of a p.Cys484Tyr Notch3 mutation in a CADASIL patient with acute bilateral multiple subcortical infarcts-case report and brief review.

Liu W et al.

Bmc Neurology, 2024

Progress to Clarify How NOTCH3 Mutations Lead to CADASIL, a Hereditary Cerebral Small Vessel Disease.

Mizuta I et al.

Biomolecules, 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

Most common NOTCH3 mutations causing CADASIL or CADASIL-like cerebral small vessel disease: A systematic review.

Boston G et al.

Cerebral Circulation - Cognition and Behavior, 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

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

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

ER stress induced immunopathology involving complement in CADASIL: implications for therapeutics.

Panahi M et al.

Acta Neuropathologica Communications, 2023

Neuropathology of microbleeds in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Magaki S et al.

Journal of Neuropathology and Experimental Neurology, 2023

Influence of different spectra of NOTCH3 variants on the clinical phenotype of CADASIL - experience from Slovakia.

Juhosová M et al.

Neurogenetics, 2023

Microbleed clustering in thalamus sign in CADASIL patients with NOTCH3 R75P mutation.

Takei J et al.

Frontiers in Neurology, 2023

Association of Vascular Risk Factors and Genetic Factors With Penetrance of Variants Causing Monogenic Stroke.

Cho BPH et al.

Jama Neurology, 2022

36300346 (PubMed )
Supplement: jamaneurol-e223832-s001.pdf

Evidence of beta amyloid independent small vessel disease in familial Alzheimer's disease.

Littau JL et al.

Brain Pathology (zurich, Switzerland), 2022

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

Ni W et al.

Cns Neuroscience & Therapeutics, 2022

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

Effect of NOTCH3 EGFr Group, Sex, and Cardiovascular Risk Factors on CADASIL Clinical and Neuroimaging Outcomes.

Hack RJ et al.

Stroke, 2022

35862191 (PubMed )
Supplement: str-53-3133-s001.pdf

Genotype and Phenotype Differences in CADASIL from an Asian Perspective.

Kim Y et al.

International Journal of Molecular Sciences, 2022

Small Fiber Pathology in CADASIL: Clinical Correlation With Cognitive Impairment.

Cheng YW et al.

Neurology, 2022

Oligomerization, trans-reduction, and instability of mutant NOTCH3 in inherited vascular dementia.

Young KZ et al.

Communications Biology, 2022

Trans-Reduction of Cerebral Small Vessel Disease Proteins by Notch-Derived EGF-like Sequences.

Cartee NMP et al.

International Journal of Molecular Sciences, 2022

Specific Abnormalities in White Matter Pathways as Interface to Small Vessels Disease and Cognition in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Individuals.

Jacobs HIL et al.

Brain Connectivity, 2022

NOTCH3 variant position is associated with NOTCH3 aggregation load in CADASIL vasculature.

Gravesteijn G et al.

Neuropathology and Applied Neurobiology, 2022

Reduced macular vessel density and inner retinal thickness correlate with the severity of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Lin CW et al.

Plos One, 2022

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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."