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7. Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1). 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 Hum Mol Genet; 1999 Nov; 8(12):2325-33. PubMed ID: 10545614 [TBL] [Abstract][Full Text] [Related]
8. Loss of p53 sensitizes mice with a mutation in Ccm1 (KRIT1) to development of cerebral vascular malformations. Plummer NW; Gallione CJ; Srinivasan S; Zawistowski JS; Louis DN; Marchuk DA Am J Pathol; 2004 Nov; 165(5):1509-18. PubMed ID: 15509522 [TBL] [Abstract][Full Text] [Related]
9. Identification of a Novel Deletion Mutation (c.1780delG) and a Novel Splice-Site Mutation (c.1412-1G>A) in the CCM1/KRIT1 Gene Associated with Familial Cerebral Cavernous Malformation in the Chinese Population. Yang C; Zhao J; Wu B; Zhong H; Li Y; Xu Y J Mol Neurosci; 2017 Jan; 61(1):8-15. PubMed ID: 27649701 [TBL] [Abstract][Full Text] [Related]
10. Familial cerebral cavernous malformations: Rio de Janeiro study and review of the recommendations for management. Domingues F; Gasparetto EL; Andrade R; Noro F; Eiras A; Gault J; Correia CE; de Souza JM Arq Neuropsiquiatr; 2008 Dec; 66(4):795-9. PubMed ID: 19099113 [TBL] [Abstract][Full Text] [Related]
11. Identification of Krit1B: a novel alternative splicing isoform of cerebral cavernous malformation gene-1. Retta SF; Avolio M; Francalanci F; Procida S; Balzac F; Degani S; Tarone G; Silengo L Gene; 2004 Jan; 325():63-78. PubMed ID: 14697511 [TBL] [Abstract][Full Text] [Related]
12. Novel KRIT1/CCM1 mutation in a patient with retinal cavernous hemangioma and cerebral cavernous malformation. Reddy S; Gorin MB; McCannel TA; Tsui I; Straatsma BR Graefes Arch Clin Exp Ophthalmol; 2010 Sep; 248(9):1359-61. PubMed ID: 20306072 [TBL] [Abstract][Full Text] [Related]
14. [Cerebral cavernous malformations]. Koht J; Braathen GJ; Neubert D; Russell MB Tidsskr Nor Laegeforen; 2005 Aug; 125(15):2008-10. PubMed ID: 16100539 [TBL] [Abstract][Full Text] [Related]
15. Small deletion at the 7q21.2 locus in a CCM family detected by real-time quantitative PCR. Muscarella LA; Guarnieri V; Coco M; Belli S; Parrella P; Pulcrano G; Catapano D; D'Angelo VA; Zelante L; D'Agruma L J Biomed Biotechnol; 2010; 2010():. PubMed ID: 20798775 [TBL] [Abstract][Full Text] [Related]
16. Fasudil decreases lesion burden in a murine model of cerebral cavernous malformation disease. McDonald DA; Shi C; Shenkar R; Stockton RA; Liu F; Ginsberg MH; Marchuk DA; Awad IA Stroke; 2012 Feb; 43(2):571-4. PubMed ID: 22034008 [TBL] [Abstract][Full Text] [Related]
18. Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations. Cavé-Riant F; Denier C; Labauge P; Cécillon M; Maciazek J; Joutel A; Laberge-Le Couteulx S; Tournier-Lasserve E Eur J Hum Genet; 2002 Nov; 10(11):733-40. PubMed ID: 12404106 [TBL] [Abstract][Full Text] [Related]
19. A Novel KRIT1/CCM1 Gene Insertion Mutation Associated with Cerebral Cavernous Malformations in a Chinese Family. Wang H; Pan Y; Zhang Z; Li X; Xu Z; Suo Y; Li W; Wang Y J Mol Neurosci; 2017 Feb; 61(2):221-226. PubMed ID: 28160210 [TBL] [Abstract][Full Text] [Related]
20. Cerebral venous malformations have distinct genetic origin from cerebral cavernous malformations. Guclu B; Ozturk AK; Pricola KL; Seker A; Ozek M; Gunel M Stroke; 2005 Nov; 36(11):2479-80. PubMed ID: 16239636 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]