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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2007-3-28
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pubmed:abstractText |
We report a novel missense mutation of the Notch3 gene in a Japanese family with CADASIL. The Cys49Gly mutation in this family is located in exon 2 of the Notch3 gene. Most of the documented Notch3 gene mutations occur in exons 3 or 4. On the other hand, there are few reports around the world of mutations in exon 2 of the Notch3 gene, and this is the first report of a mutation in exon 2 of the gene in a Japanese family. In general, CADASIL mutations involve a cysteine residue. Such mutations may influence the tertiary structure of the Notch3 protein, resulting in protein dysfunction. Thus, the CADASIL in the present case may be a consequence of the mutation in exon 2 causing a structural change in the Notch3 protein.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
1468-1331
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
14
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
464-6
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pubmed:dateRevised |
2007-11-15
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pubmed:meshHeading |
pubmed-meshheading:17389000-Adult,
pubmed-meshheading:17389000-Asian Continental Ancestry Group,
pubmed-meshheading:17389000-Brain,
pubmed-meshheading:17389000-CADASIL,
pubmed-meshheading:17389000-Diagnosis, Differential,
pubmed-meshheading:17389000-Female,
pubmed-meshheading:17389000-Humans,
pubmed-meshheading:17389000-Magnetic Resonance Angiography,
pubmed-meshheading:17389000-Magnetic Resonance Imaging,
pubmed-meshheading:17389000-Male,
pubmed-meshheading:17389000-Meniere Disease,
pubmed-meshheading:17389000-Microscopy, Electron, Transmission,
pubmed-meshheading:17389000-Mutation, Missense,
pubmed-meshheading:17389000-Pedigree,
pubmed-meshheading:17389000-Receptors, Notch,
pubmed-meshheading:17389000-Skin,
pubmed-meshheading:17389000-Tinnitus,
pubmed-meshheading:17389000-Vertigo
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pubmed:year |
2007
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pubmed:articleTitle |
Novel mutation of the Notch3 gene in a Japanese patient with CADASIL.
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pubmed:affiliation |
Department of Neurology, Keio University School of Medicine, Tokyo, Japan. di045006@sc.itc.keio.ac.jp
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pubmed:publicationType |
Journal Article
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