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Journal Abstract Search

401 related items for PubMed ID: 25525273

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  • 4. A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion.
    Nardella G, Visci G, Guarnieri V, Castellana S, Biagini T, Bisceglia L, Palumbo O, Trivisano M, Vaira C, Scerrati M, Debrasi D, D'Angelo V, Carella M, Merla G, Mazza T, Castori M, D'Agruma L, Fusco C.
    Hum Mutat; 2018 Dec; 39(12):1885-1900. PubMed ID: 30161288
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  • 5. Comprehensive analysis of Novel mutations in CCM1/KRIT1 and CCM2/MGC4607 and their clinical implications in Cerebral Cavernous malformations.
    Galvão GDF, Trefilio LM, Salvio AL, da Silva EV, Alves-Leon SV, Fontes-Dantas FL, de Souza JM.
    J Stroke Cerebrovasc Dis; 2024 Nov; 33(11):107947. PubMed ID: 39181174
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  • 10. A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells.
    Pagenstecher A, Stahl S, Sure U, Felbor U.
    Hum Mol Genet; 2009 Mar 01; 18(5):911-8. PubMed ID: 19088124
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  • 11. Genetic variations within KRIT1/CCM1, MGC4607/CCM2 and PDCD10/CCM3 in a large Italian family harbouring a Krit1/CCM1 mutation.
    Pileggi S, Buscone S, Ricci C, Patrosso MC, Marocchi A, Brunori P, Battistini S, Penco S.
    J Mol Neurosci; 2010 Oct 01; 42(2):235-42. PubMed ID: 20419355
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  • 12. CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous malformations pathogenesis.
    Zawistowski JS, Stalheim L, Uhlik MT, Abell AN, Ancrile BB, Johnson GL, Marchuk DA.
    Hum Mol Genet; 2005 Sep 01; 14(17):2521-31. PubMed ID: 16037064
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  • 13. Structural basis for small G protein effector interaction of Ras-related protein 1 (Rap1) and adaptor protein Krev interaction trapped 1 (KRIT1).
    Li X, Zhang R, Draheim KM, Liu W, Calderwood DA, Boggon TJ.
    J Biol Chem; 2012 Jun 22; 287(26):22317-27. PubMed ID: 22577140
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  • 18. 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 22; 61(2):189-198. PubMed ID: 28000143
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