Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.R169C
Back to variants list

NOTCH3

NM_000435.3:p.R169C

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

PIP2 corrects an endothelial Piezo1 channelopathy.

Hashad AM et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

[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

41300806 (PubMed )
Supplement: genes-16-01353-s001.zip › genes-3932398-supplementary.pdf

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

Small Vessel Disease Phenotype Associated With Monoallelic NOTCH3 Loss-of-Function Variants.

van Asbeck JS et al.

Neurology, 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

Extracellular domain shedding of NOTCH3 during endocytosis associated with heterogeneity between different CADASIL mutant activation mechanisms.

Hosseini-Alghaderi S et al.

Cell Communication and Signaling : Ccs, 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

The pathogenesis of cerebral small vessel disease and vascular cognitive impairment.

Markus HS et al.

Physiological Reviews, 2025

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

Men X et al.

Annals of Clinical and Translational 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

Bilateral Middle Cerebellar Peduncle Sign in a Patient with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy and Coronavirus Disease 2019.

Mitsutake A et al.

Internal Medicine (tokyo, Japan), 2025

Is migraine a common manifestation of CADASIL? Arguments Pros.

Chabriat H

The Journal of Headache and Pain, 2025

Impaired Resting-State Functional Connectivity in Cerebral Autosomal-Dominant Arteriopathy, Subcortical Infarcts, and Leukoencephalopathy Mutant Mice.

Aykan SA et al.

Stroke, 2025

"Chocolate Chip Sign" on Susceptibility-Weighted Imaging: A Novel Neuroimaging Biomarker for HTRA1-Related Cerebral Small Vessel Disease.

Ando S et al.

Neurology. Genetics, 2025

Intracerebral hemorrhage in CADASIL.

Hsu SL et al.

Journal of the Chinese Medical Association : Jcma, 2025

NOTCH3 Mutation Causes Glymphatic Impairment and Promotes Brain Senescence in CADASIL.

Li C et al.

Cns Neuroscience & Therapeutics, 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

CADASIL: A NOTCH3-associated cerebral small vessel disease.

Yuan L et al.

Journal of Advanced Research, 2024

Microglial activation without peripheral immune cell infiltration characterises mouse and human cerebral small vessel disease.

Deshpande T et al.

Neuropathology and Applied Neurobiology, 2024

Rare Sequence Variation Underlying Suspected Familial Cerebral Small-Vessel Disease.

Cho BPH et al.

Journal of the American Heart Association, 2024

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

38520151 (PubMed )
Supplement: supplement_1.docx

Pathophysiology of cerebral small vessel disease: a journey through recent discoveries.

Dupré N et al.

The Journal of Clinical Investigation, 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

Impact of arterial stiffness on cerebrovascular function: a review of evidence from humans and preclincal models.

Reeve EH et al.

American Journal of Physiology. Heart and Circulatory Physiology, 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

Treatment with Cerebrolysin Prolongs Lifespan in a Mouse Model of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.

Kastberger B et al.

Advanced Biology, 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

Clinical impact of mixed pulmonary carcinoma and carcinoid: the driver from their mono-clonal origin.

Graziano P et al.

Virchows Archiv : an International Journal of Pathology, 2024

A multicenter, single-arm, phase II clinical trial of adrenomedullin in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

Washida K et al.

Cerebral Circulation - Cognition and Behavior, 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

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

The cysteine-altering p.R544C variant in the NOTCH3 gene is a probable candidate for blood pressure and relevant traits in the Taiwan Biobank.

Lin E et al.

Journal of Neurology, 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

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

1–50 of 186 papers
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."