Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.R182C
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NOTCH3

NM_000435.3:p.R182C

Associated Papers

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

Shao W et al.

Brain : a Journal of Neurology, 2026

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

Study of the NOTCH3 Gene Reveals the First CADASIL Cases in Crete and a Novel Pathogenic Variant.

Zaganas I et al.

Brain and Behavior, 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

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

Short-Term Frequently Relapsing Ischemic Strokes Followed by Rapidly Progressive Dementia in CADASIL: A Case Report and Literature Review.

Geng Y et al.

The Neurologist, 2025

The Pathobiology of Cerebrovascular Lesions in CADASIL Small Vessel Disease.

Joutel A

Basic & Clinical Pharmacology & Toxicology, 2025

Intracerebral hemorrhage in CADASIL.

Hsu SL et al.

Journal of the Chinese Medical Association : Jcma, 2025

Intracerebral Hemorrhage in Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.

Hu F et al.

European Journal of Neurology, 2025

NOTCH3 Variant Position Affects the Phenotype at the Pluripotent Stem Cell Level in CADASIL.

Bugallo-Casal A et al.

Neuromolecular Medicine, 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

CADASIL: A NOTCH3-associated cerebral small vessel disease.

Yuan L et al.

Journal of Advanced Research, 2024

Blood vessel organoids generated by base editing and harboring single nucleotide variation in Notch3 effectively recapitulate CADASIL-related pathogenesis.

Ahn Y et al.

Molecular Neurobiology, 2024

Prevalence and Influence of Genetic Variants on Follow-Up Results in Patients Surviving Thoracic Aortic Therapy.

Ghazy T et al.

Journal of Clinical Medicine, 2024

39274466 (PubMed )
Supplement: jcm-13-05254-s001.zip › jcm-3134559-supplementary.pdf

Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing.

Janssen AEJ et al.

Nature Communications, 2024

39223156 (PubMed )
Supplement: 41467_2024_51508_MOESM6_ESM.xlsx › SuppTable10

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

Protein aggregates containing wild-type and mutant NOTCH3 are major drivers of arterial pathology in CADASIL.

Dupré N et al.

The Journal of Clinical Investigation, 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

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

Analysis of the pathogenicity and pathological characteristics of NOTCH3 gene-sparing cysteine mutations in vitro and in vivo models.

Gong Z et al.

Frontiers in Molecular Neuroscience, 2024

Acute bilateral multiple subcortical infarcts as manifestation in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

Huang H et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023

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

36535904 (PubMed )
Supplement: awac486_supplementary_data.pdf

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

Nogueira R et al.

Arquivos De Neuro-psiquiatria, 2023

Prevalence of Mutations in Mendelian Stroke Genes in Early Onset Stroke Patients.

Park HK et al.

Annals of Neurology, 2023

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

Oliveira DV et al.

Embo Molecular Medicine, 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

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

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

Elderly CADASIL patients with intact neurological status.

Zhang R et al.

Journal of Stroke, 2022

CADASIL in Greece: Mutational spectrum and clinical characteristics based on a systematic review and pooled analysis of published cases.

Paraskevas GP et al.

European Journal of Neurology, 2022

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

Gravesteijn G et al.

Neuropathology and Applied Neurobiology, 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."