| 1 | CCM1, KRIT1
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| Structural basis for the disruption of the cerebral cavernous malformations 2 (CCM2) interaction with Krev interaction trapped 1 (KRIT1) by disease-associated mutations.
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| Fisher OS, Liu W, Zhang R, Stiegler AL, Ghedia S, Weber JL, Boggon TJ.
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| J Biol Chem 290(5):2842-53. doi: 10.1074/jbc.M114.616433. Epub 2014 Dec 18.
2015
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| 2 | CCM1, KRIT1
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| A novel CCM1 mutation associated with multiple cerebral and vertebral cavernous malformations.
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| Lanfranconi S, Ronchi D, Ahmed N, Civelli V, Basilico P, Bresolin N, Comi GP, Corti S.
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| BMC Neurol 14:158. doi: 10.1186/s12883-014-0158-3.
2014
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| 3 | CCM1, KRIT1
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| Cerebral cavernous malformation protein CCM1 inhibits sprouting angiogenesis by activating DELTA-NOTCH signaling.
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| Wüstehube J, Bartol A, Liebler SS, Brütsch R, Zhu Y, Felbor U, Sure U, Augustin HG, Fischer A.
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| Proc Natl Acad Sci U S A 107(28):12640-5. Epub 2010 Jun 24.PMID: 20616044 2010
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| 4 | CCM1, KRIT1
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| Frequency and phenotypes of cutaneous vascular malformations in a consecutive series of 417 patients with familial cerebral cavernous malformations.
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| Sirvente J, Enjolras O, Wassef M, Tournier-Lasserve E, Labauge P.
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| J Eur Acad Dermatol Venereol 23(9):1066-72. Epub 2009 Apr 29.PMID: 19453802 2009
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| 5 | CCM1, KRIT1
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| Cutaneous venous malformations in familial cerebral cavernomatosis caused by KRIT1 gene mutations.
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| Toll A, Parera E, Giménez-Arnau AM, Pou A, Lloreta J, Limaye N, Vikkula M, Pujol RM.
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| Dermatology 218(4):307-13. Epub 2009 Jan 31.PMID: 19182478 2009
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| 6 | KRIT1, CCM1, CCM2, PDCD10, CCM3
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| 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.
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| Stahl S, Gaetzner S, Voss K, Brackertz B, Schleider E, SŸrŸcŸ O, Kunze E, Netzer C, Korenke C, Finckh U, Habek M, Poljakovic Z, Elbracht M, Rudnik-Schšneborn S, Bertalanffy H, Sure U, Felbor U.
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| Hum Mutat 29(5):709-17. 2008
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| 7 | CCM1, CCM2, KRIT1, CCM3, PDCD10, CCM2
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| Cerebral cavernous malformation: new molecular and clinical insights.
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| Revencu N, Vikkula M.
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| J Med Genet 43(9):716-21. Epub 2006 Mar 29. 2006
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| 8 | KRIT1, CCM2, MAP3K3, CCM1
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| CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous malformations pathogenesis.
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| Zawistowski JS, Stalheim L, Uhlik MT, Abell AN, Ancrile BB, Johnson GL, Marchuk DA.
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| Hum Mol Genet 14(17):2521-31. Epub 2005 Jul 21. 2005
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| 9 | KRIT1, CCM1
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| Search for loss of heterozygosity and mutation analysis of KRIT1 gene in CCM patients.
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| Marini V, Ferrera L, Pigatto F, Origone P, Garre C, Dorcaratto A, Viale G, Alberti F, Mareni C.
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| Am J Med Genet 130A(1):98-101. No abstract available. 2004
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| 10 | ACVRL1, CCM1, ENG, KRIT1
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| Vascular morphogenesis: tales of two syndromes.
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| Marchuk DA, Srinivasan S, Squire TL, Zawistowski JS.
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| Hum Mol Genet 12(Suppl 1):R97-R112. 2003
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| 11 | KRIT1, CCM1
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| Identification of a novel KRIT1 mutation in an Italian family with cerebral cavernous malformation by the protein truncation test.
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| Marini V, Ferrera L, Dorcaratto A, Viale G, Origone P, Mareni C, Garre C.
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| J Neurol Sci 212(1-2):75-8. 2003
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| 12 | KRIT1, CCM1
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| A novel KRIT1/CCM1 truncating mutation in a patient with cerebral and retinal cavernous angiomas.
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| Couteulx SL, Brezin AP, Fontaine B, Tournier-Lasserve E, Labauge P.
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| Arch Ophthalmol 120(2):217-8. No abstract available. 2002
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| 13 | KRIT1, ITGB1BP1, CCM1
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| KRIT1 association with the integrin-binding protein ICAP-1: a new direction in the elucidation of cerebral cavernous malformations (CCM1) pathogenesis.
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| Zawistowski JS, Serebriiskii IG, Lee MF, Golemis EA, Marchuk DA.
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| Hum Mol Genet 11(4):389-96. 2002
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| 14 | KRIT1, CCM1
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| KRIT1, a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein.
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| Gunel M, Laurans MS, Shin D, DiLuna ML, Voorhees J, Choate K, Nelson-Williams C, Lifton RP.
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| Proc Natl Acad Sci U S A 99(16):10677-82. 2002
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| 15 | KRIT1, CCM1
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| Mutation and expression analysis of the KRIT1 gene associated with cerebral cavernous malformations (CCM1).
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| Kehrer-Sawatzki H, Wilda M, Braun VM, Richter HP, Hameister H.
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| Acta Neuropathol (Berl) 104(3):231-40. Epub 2002 Jun 26. 2002
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| 16 | CCM1, CCM2, KRIT1
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| Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations.
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| Cave-Riant F, Denier C, Labauge P, Cecillon M, Maciazek J, Joutel A, Laberge-Le Couteulx S, Tournier-Lasserve E.
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| Eur J Hum Genet 10(11):733-40. 2002
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| 17 | KRIT1, ITGB1BP1, ITGB1, CCM1
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| Interaction between krit1 and icap1alpha infers perturbation of integrin beta1-mediated angiogenesis in the pathogenesis of cerebral cavernous malformation.
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| Zhang J, Clatterbuck RE, Rigamonti D, Chang DD, Dietz HC.
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| Hum Mol Genet 10(25):2953-60. 2001
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| 18 | KRIT1, CCM1
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| Identification of eight novel 5'-exons in cerebral capillary malformation gene-1 (CCM1) encoding KRIT1.
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| Eerola I, McIntyre B, Vikkula M.
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| Biochim Biophys Acta 1517(3):464-7. 2001
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| 19 | KRIT1, CCM1
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| KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation.
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| Eerola I, Plate KH, Spiegel R, Boon LM, Mulliken JB, Vikkula M.
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| Hum Mol Genet 9(9):1351-5. 2000
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| 20 | KRIT1, CCM1
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| Genetic heterogeneity and absence of founder effect in a series of 36 French cerebral cavernous angiomas families.
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| Laberge S, et al.
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| Eur J Hum Genet 7(4):499-504. 1999
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| 21 | KRIT1, CCM1
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| Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas.
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| Laberge-le Couteulx S, et al.
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| Nat Genet 23(2):189-93 1999
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| 22 | KRIT1, CCM1
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| Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1).
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| Sahoo T, et al.
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| Hum Mol Genet 8(12):2325-2333 1999
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| 23 | KRIT1, CCM2, CCM3, CCM1
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| Multilocus linkage identifies two new loci for a Mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27.
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| Craig HD, et al.
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| Hum Mol Genet 7 : 1851-1858. 1998
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| 24 | KRIT1, CCM1
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| Linkage of the locus for cerebral cavernous hemangiomas to human chromosome 7q in four families of Mexican-American descent.
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| Polymeropoulos MH, et al.
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| Neurology 48 : 752-757. 1997
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| 25 | KRIT1, CCM1
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| Familial cavernous malformations in a large French kindred: mapping of the gene to the CCM1 locus on chromosome 7q.
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| Notelet L, Chapon F, Khoury S, Vahedi K, Chodkiewicz JP, Courtheoux P, Iba-Zizen MT, Cabanis EA, Lechevalier B, Tournier-Lasserve E, Houtteville JP.
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| J Neurol Neurosurg Psychiatry 63(1):40-5. 1997
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| 26 | KRIT1, CCM1
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| A founder mutation as a cause of cerebral cavernous malformation in Hispanic Americans.
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| GŸnel M, et al.
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| N Engl J Med 334 : 946-951. 1996
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| 27 | KRIT1, CCM1
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| Refined localization of the cerebral cavernous malformation gene (CCM1) to a 4-cM interval of chromosome 7q contained in a well-defined YAC contig.
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| Johnson EW, et al.
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| Genome Res 5 : 368-380. 1995
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| 28 | KRIT1, CCM1
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| A gene responsible for cavernous malformations of the brain maps to chromosome 7q.
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| Dubovsky J, et al.
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| Hum Mol Genet 4 : 453-458. 1995
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| 29 | KRIT1, CCM1
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| Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21.
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| GŸnel M, et al.
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| Proc Natl Acad Sci U S A 92 : 6620-6624. 1995
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