Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.R133C
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NOTCH3

NM_000435.3:p.R133C

Associated Papers

Impairment of hippocampal gamma oscillations, mitochondria and neurovascular function in CADASIL.

Shao W et al.

Brain : a Journal of Neurology, 2026

[Geographic Distribution of Patients with CADASIL in Japan].

Mukai M et al.

Rinsho Shinkeigaku = Clinical Neurology, 2025

A Novel Mutation in Exon 10 of the NOTCH3 Gene in Human Cerebral Microvascular Endothelial Cells Induces CADASIL-Like Pathology and the Therapeutic Effect of Edaravone Dexborneol on Hereditary and Non-hereditary Cerebral Small Vessel Disease.

Liu Y et al.

Neurochemical Research, 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

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

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

40265482 (PubMed )
Supplement: ANA-98-273-s001.docx

Intracranial Large Artery Involvement in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy: A Tale of Two Genes?

Zedde M et al.

Genes, 2025

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

Peripapillary vessel wall changes correlate with disease severity in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Chi SC et al.

Journal of the Neurological Sciences, 2025

Generation of a human iPSC line with Notch3 R133C mutation by CRISPR/Cas9: A tool for investigating CADASIL and therapeutic targets.

Aygar S et al.

Stem Cell 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

Mechanistic advances in factors influencing phenotypic variability in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a review.

Zhao Y et al.

Frontiers in Neurology, 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

Clinical and neuroradiological spectrum of biallelic variants in NOTCH3.

Iruzubieta P et al.

Ebiomedicine, 2024

39191170 (PubMed )
Supplement: mmc6.xlsx › Hoja1

Distinct neurological phenotypes associated with biallelic loss of NOTCH3 function: evidence for recessive inheritance.

Tasharrofi B et al.

Molecular Biology Reports, 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

A Search for New Biological Pathways in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy by Proteomic Research.

Menéndez-Valladares P et al.

Journal of Clinical Medicine, 2024

Acute Fatal Leukoencephalopathic Presentation of CADASIL.

Huddar A et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 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

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

Hsu SL et al.

Brain Communications, 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

Mutant NOTCH3ECD Triggers Defects in Mitochondrial Function and Mitophagy in CADASIL Cell Models.

Wang W et al.

Journal of Alzheimer's Disease : Jad, 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

Autosomal Recessive NOTCH3-Related Leukodystrophy in Two Siblings and Review of the Literature.

Al-Amrani F et al.

Pediatric Neurology, 2023

Headache and NOTCH3 Gene Variants in Patients with CADASIL.

Szymanowicz O et al.

Neurology International, 2023

Management of Inherited CNS Small Vessel Diseases: The CADASIL Example: A Scientific Statement From the American Heart Association.

Meschia JF et al.

Stroke, 2023

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL): A Diagnosis to Consider in Atypical Stroke Presentations.

Goh JW et al.

Cureus, 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

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

Clinical and epidemiological profiles from a case series of 26 Brazilian CADASIL patients.

Nogueira R et al.

Arquivos De Neuro-psiquiatria, 2023

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Presenting During the Postpartum Period as Postpartum Depression and Postpartum Psychosis.

Zafar M et al.

Cureus, 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

Active immunotherapy reduces NOTCH3 deposition in brain capillaries in a CADASIL mouse model.

Oliveira DV et al.

Embo Molecular Medicine, 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

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

1–50 of 218 papers
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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."