Source:http://linkedlifedata.com/resource/pubmed/id/10545614
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
12
|
| pubmed:dateCreated |
1999-12-14
|
| pubmed:databankReference | |
| pubmed:abstractText |
Cerebral cavernous malformations (CCM) are congenital vascular anomalies of the brain that can cause significant neurological disabilities, including intractable seizures and hemorrhagic stroke. One locus for autosomal dominant CCM ( CCM1 ) maps to chromosome 7q21-q22. Recombination events in linked family members define a critical region of approximately 2 Mb and a shared disease haplotype associated with a presumed founder effect in families of Mexican-American descent points to a potentially smaller region of interest. Using a genomic sequence-based positional cloning strategy, we have identified KRIT1, encoding a protein that interacts with the Krev-1/rap1a tumor suppressor, as the CCM1 gene. Seven different KRIT1 mutations have been identified in 23 distinct CCM1 families. The identical mutation is present in 16 of 21 Mexican-American families analyzed, substantiating a founder effect in this population. Other Mexican-American and non-Hispanic Caucasian CCM1 kindreds harbor other KRIT1 mutations. Identification of a common Mexican-American mutation has potential clinical significance for presymptomatic diagnosis of CCM in this population. In addition, these data point to a key role for the Krev-1/rap1a signaling pathway in angiogenesis and cerebrovascular disease.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Nov
|
| pubmed:issn |
0964-6906
|
| pubmed:author |
pubmed-author:BoguskiM SMS,
pubmed-author:DokkenC GCG,
pubmed-author:GallioneC JCJ,
pubmed-author:Gil-NagelAA,
pubmed-author:GreenE DED,
pubmed-author:JohnsonE WEW,
pubmed-author:JonesT LTL,
pubmed-author:KosofskyBB,
pubmed-author:KumarK KKK,
pubmed-author:KurthJ HJH,
pubmed-author:Lee-LinS QSQ,
pubmed-author:LouisD NDN,
pubmed-author:MarchukD ADA,
pubmed-author:MettlerGG,
pubmed-author:MorrisonLL,
pubmed-author:RichS SSS,
pubmed-author:SahooTT,
pubmed-author:ThomasJ WJW,
pubmed-author:TouchmanJ WJW,
pubmed-author:ZabramskiJ MJM
|
| pubmed:issnType |
Print
|
| pubmed:volume |
8
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
2325-33
|
| pubmed:dateRevised |
2010-11-18
|
| pubmed:meshHeading |
pubmed-meshheading:10545614-Blood Vessels,
pubmed-meshheading:10545614-Brain,
pubmed-meshheading:10545614-Ethnic Groups,
pubmed-meshheading:10545614-Genetic Linkage,
pubmed-meshheading:10545614-Humans,
pubmed-meshheading:10545614-Microtubule-Associated Proteins,
pubmed-meshheading:10545614-Molecular Sequence Data,
pubmed-meshheading:10545614-Mutation,
pubmed-meshheading:10545614-Physical Chromosome Mapping,
pubmed-meshheading:10545614-Proto-Oncogene Proteins
|
| pubmed:year |
1999
|
| pubmed:articleTitle |
Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1).
|
| pubmed:affiliation |
Department of Genetics, Duke University Medical Center, Durham, NC 27710, USA.
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|