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Titolo:
Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1)
Autore:
Sahoo, T; Johnson, EW; Thomas, JW; Kuehl, PM; Jones, TL; Dokken, CG; Touchman, JW; Gallione, CJ; Lee-Lin, SQ; Kosofsky, B; Kurth, JH; Louis, DN; Mettler, G; Morrison, L; Gil-Nagel, A; Rich, SS; Zabramski, JM; Boguski, MS; Green, ED; Marchuk, DA;
Indirizzi:
Duke Univ, Med Ctr, Dept Genet, Durham, NC 27710 USA Duke Univ Durham NC USA 27710 , Med Ctr, Dept Genet, Durham, NC 27710 USA St Joseph Hosp, Barrow Neurol Inst, Dept Neurogenet, Phoenix, AZ 85013 USASt Joseph Hosp Phoenix AZ USA 85013 ept Neurogenet, Phoenix, AZ 85013 USA St Joseph Hosp, Barrow Neurol Inst, Dept Neurosurg, Phoenix, AZ 85013 USA St Joseph Hosp Phoenix AZ USA 85013 Dept Neurosurg, Phoenix, AZ 85013 USA Natl Human Genome Res Inst, NIH, Genome Technol Branch, Bethesda, MD 20892USA Natl Human Genome Res Inst Bethesda MD USA 20892 h, Bethesda, MD 20892USA Natl Lib Med, Natl Ctr Biotechnol Informat, NIH, Bethesda, MD 20894 USA Natl Lib Med Bethesda MD USA 20894 Informat, NIH, Bethesda, MD 20894 USA Marshfield Clin, Ctr Med Genet, Marshfield, WI 54449 USA Marshfield Clin Marshfield WI USA 54449 d Genet, Marshfield, WI 54449 USA Massachusetts Gen Hosp, Mol Neurooncol Lab, Charlestown, MA 02129 USA Massachusetts Gen Hosp Charlestown MA USA 02129 Charlestown, MA 02129 USA Childrens Hosp Eastern Ontario, Div Genet, Ottawa, ON K1H 8L1, Canada Childrens Hosp Eastern Ontario Ottawa ON Canada K1H 8L1 N K1H 8L1, Canada Univ New Mexico, Sch Med, Dept Neurol, Albuquerque, NM 87131 USA Univ New Mexico Albuquerque NM USA 87131 eurol, Albuquerque, NM 87131 USA Hosp Ruber Int, Madrid 28034, Spain Hosp Ruber Int Madrid Spain 28034Hosp Ruber Int, Madrid 28034, Spain Bowman Gray Sch Med, Dept Publ Hlth Sci & Neurol, Winston Salem, NC 27157 USA Bowman Gray Sch Med Winston Salem NC USA 27157 inston Salem, NC 27157 USA
Titolo Testata:
HUMAN MOLECULAR GENETICS
fascicolo: 12, volume: 8, anno: 1999,
pagine: 2325 - 2333
SICI:
0964-6906(199911)8:12<2325:MITGEK>2.0.ZU;2-2
Fonte:
ISI
Lingua:
ENG
Soggetto:
CHROMOSOME 7Q; TUBEROUS SCLEROSIS; NATURAL-HISTORY; YAC CONTIG; HUMAN DNA; RAS; IDENTIFICATION; PRODUCT; LINKAGE; FAMILIES;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
55
Recensione:
Indirizzi per estratti:
Indirizzo: Marchuk, DA Duke Univ, Med Ctr, Dept Genet, Durham, NC 27710 USA Duke Univ Durham NC USA 27710 ept Genet, Durham, NC 27710 USA
Citazione:
T. Sahoo et al., "Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1)", HUM MOL GEN, 8(12), 1999, pp. 2325-2333

Abstract

Cerebral cavernous malformations (CCM) are congenital vascular anomalies of the brain that can cause significant neurological disabilities, includingintractable 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 similar to 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.

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Documento generato il 06/04/20 alle ore 08:44:42