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Journal Abstract Search

577 related items for PubMed ID: 19088123

  • 1. Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis.
    Akers AL, Johnson E, Steinberg GK, Zabramski JM, Marchuk DA.
    Hum Mol Genet; 2009 Mar 01; 18(5):919-30. PubMed ID: 19088123
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  • 2. Lesions from patients with sporadic cerebral cavernous malformations harbor somatic mutations in the CCM genes: evidence for a common biochemical pathway for CCM pathogenesis.
    McDonald DA, Shi C, Shenkar R, Gallione CJ, Akers AL, Li S, De Castro N, Berg MJ, Corcoran DL, Awad IA, Marchuk DA.
    Hum Mol Genet; 2014 Aug 15; 23(16):4357-70. PubMed ID: 24698976
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  • 3. Sporadic cerebral cavernous malformations: report of further mutations of CCM genes in 40 Italian patients.
    D'Angelo R, Alafaci C, Scimone C, Ruggeri A, Salpietro FM, Bramanti P, Tomasello F, Sidoti A.
    Biomed Res Int; 2013 Aug 15; 2013():459253. PubMed ID: 24058906
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  • 4. A novel mouse model of cerebral cavernous malformations based on the two-hit mutation hypothesis recapitulates the human disease.
    McDonald DA, Shenkar R, Shi C, Stockton RA, Akers AL, Kucherlapati MH, Kucherlapati R, Brainer J, Ginsberg MH, Awad IA, Marchuk DA.
    Hum Mol Genet; 2011 Jan 15; 20(2):211-22. PubMed ID: 20940147
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  • 5. Biallelic somatic and germ line CCM1 truncating mutations in a cerebral cavernous malformation lesion.
    Gault J, Shenkar R, Recksiek P, Awad IA.
    Stroke; 2005 Apr 15; 36(4):872-4. PubMed ID: 15718512
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  • 7. Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex.
    Stahl S, Gaetzner S, Voss K, Brackertz B, Schleider E, Sürücü O, Kunze E, Netzer C, Korenke C, Finckh U, Habek M, Poljakovic Z, Elbracht M, Rudnik-Schöneborn S, Bertalanffy H, Sure U, Felbor U.
    Hum Mutat; 2008 May 15; 29(5):709-17. PubMed ID: 18300272
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  • 9. Update on Novel CCM Gene Mutations in Patients with Cerebral Cavernous Malformations.
    Scimone C, Bramanti P, Alafaci C, Granata F, Piva F, Rinaldi C, Donato L, Greco F, Sidoti A, D'Angelo R.
    J Mol Neurosci; 2017 Feb 15; 61(2):189-198. PubMed ID: 28000143
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  • 15. Cerebral cavernous malformations: from CCM genes to endothelial cell homeostasis.
    Fischer A, Zalvide J, Faurobert E, Albiges-Rizo C, Tournier-Lasserve E.
    Trends Mol Med; 2013 May 15; 19(5):302-8. PubMed ID: 23506982
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  • 20. Molecular Genetic Features of Cerebral Cavernous Malformations (CCM) Patients: An Overall View from Genes to Endothelial Cells.
    Riolo G, Ricci C, Battistini S.
    Cells; 2021 Mar 22; 10(3):. PubMed ID: 33810005
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