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Article

CADASIL: Notch signaling defect or protein accumulation problem?

The Journal of clinical investigation - 1 Mar 2000

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 10712425
DOI: 10.1172/JCI9511
PMCID: PMC292459

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

CADASIL: Notch signaling defect or protein accumulation problem?PMID 10712425Read ↗

Novel human pathological mutations. Gene symbol: NOTCH3. Disease: CADASIL, exon 2 mutation.Semantic proximity Read ↗

Notch3 mutations and the potential for diagnostic testing for CADASIL.Semantic proximity Read ↗

Overlapping Protein Accumulation Profiles of CADASIL and CAASemantic proximity Read ↗

Cysteine-sparing notch3 mutations: cadasil or cadasil variants?Semantic proximity Read ↗

A Japanese CADASIL patient with homozygous NOTCH3 p.Arg544Cys mutation confirmed pathologically.Semantic proximity Read ↗

Homozygosity for a NOTCH3 mutation in a 65-year-old CADASIL patient with mild symptoms: a family report.Semantic proximity Read ↗

Hypomorphic NOTCH3 mutation in an Italian family with CADASIL featuresSemantic proximity Read ↗

Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL.Semantic proximity Read ↗

First evidence of a pathogenic insertion in the NOTCH3 gene causing CADASIL.Semantic proximity Read ↗

Notch3 ectodomain is a major component of granular osmiophilic material (GOM) in CADASILSemantic proximity Read ↗

Clinical spectrum of CADASIL: a study of 7 familiesSemantic proximity Read ↗

Palliative care in CADASIL: diagnosis is only the first step.Semantic proximity Read ↗

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