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References

These sources were used to develop the Genetics Home Reference gene summary on the KRIT1 gene.

Cavé-Riant F, Denier C, Labauge P, Cécillon M, Maciazek J, Joutel A, Laberge-Le Couteulx S, Tournier-Lasserve E. Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations. Eur J Hum Genet. 2002 Nov;10(11):733-40. PubMed citation
Eerola I, McIntyre B, Vikkula M. Identification of eight novel 5'-exons in cerebral capillary malformation gene-1 (CCM1) encoding KRIT1. Biochim Biophys Acta. 2001 Feb 16;1517(3):464-7. PubMed citation
Entrez Gene
Gunel M, Laurans MS, Shin D, DiLuna ML, Voorhees J, Choate K, Nelson-Williams C, Lifton RP. KRIT1, a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein. Proc Natl Acad Sci U S A. 2002 Aug 6;99(16):10677-82. Epub 2002 Jul 24. PubMed citation
Guzeloglu-Kayisli O, Kayisli UA, Amankulor NM, Voorhees JR, Gokce O, DiLuna ML, Laurans MS, Luleci G, Gunel M. Krev1 interaction trapped-1/cerebral cavernous malformation-1 protein expression during early angiogenesis. J Neurosurg. 2004 May;100(5 Suppl Pediatrics):481-7. PubMed citation
Laberge-le Couteulx S, Jung HH, Labauge P, Houtteville JP, Lescoat C, Cecillon M, Marechal E, Joutel A, Bach JF, Tournier-Lasserve E. Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas. Nat Genet. 1999 Oct;23(2):189-93. PubMed citation
Marini V, Ferrera L, Pigatto F, Origone P, Garrè C, Dorcaratto A, Viale G, Alberti F, Mareni C. Search for loss of heterozygosity and mutation analysis of KRIT1 gene in CCM patients. Am J Med Genet A. 2004 Sep 15;130A(1):98-101. PubMed citation
OMIM: KREV INTERACTION TRAPPED 1
Plummer NW, Zawistowski JS, Marchuk DA. Genetics of cerebral cavernous malformations. Curr Neurol Neurosci Rep. 2005 Sep;5(5):391-6. Review. PubMed citation
Sahoo T, Goenaga-Diaz E, Serebriiskii IG, Thomas JW, Kotova E, Cuellar JG, Peloquin JM, Golemis E, Beitinjaneh F, Green ED, Johnson EW, Marchuk DA. Computational and experimental analyses reveal previously undetected coding exons of the KRIT1 (CCM1) gene. Genomics. 2001 Jan 1;71(1):123-6. PubMed citation
Seker A, Pricola KL, Guclu B, Ozturk AK, Louvi A, Gunel M. CCM2 expression parallels that of CCM1. Stroke. 2006 Feb;37(2):518-23. Epub 2005 Dec 22. PubMed citation
Verlaan DJ, Davenport WJ, Stefan H, Sure U, Siegel AM, Rouleau GA. Cerebral cavernous malformations: mutations in Krit1. Neurology. 2002 Mar 26;58(6):853-7. Review. PubMed citation
Verlaan DJ, Laurent SB, Sure U, Bertalanffy H, Andermann E, Andermann F, Rouleau GA, Siegel AM. CCM1 mutation screen of sporadic cases with cerebral cavernous malformations. Neurology. 2004 Apr 13;62(7):1213-5. PubMed citation
Whitehead KJ, Plummer NW, Adams JA, Marchuk DA, Li DY. Ccm1 is required for arterial morphogenesis: implications for the etiology of human cavernous malformations. Development. 2004 Mar;131(6):1437-48. PubMed citation
Zawistowski JS, Stalheim L, Uhlik MT, Abell AN, Ancrile BB, Johnson GL, Marchuk DA. CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous malformations pathogenesis. Hum Mol Genet. 2005 Sep 1;14(17):2521-31. Epub 2005 Jul 21. PubMed citation


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