| 1 | CCM1, KRIT1
|
| Structural basis for the disruption of the cerebral cavernous malformations 2 (CCM2) interaction with Krev interaction trapped 1 (KRIT1) by disease-associated mutations.
|
| Fisher OS, Liu W, Zhang R, Stiegler AL, Ghedia S, Weber JL, Boggon TJ.
|
| J Biol Chem 290(5):2842-53. doi: 10.1074/jbc.M114.616433. Epub 2014 Dec 18.
2015
|
| 2 | CCM2, KRIT1
|
| Structural basis for the disruption of the cerebral cavernous malformations 2 (CCM2) interaction with Krev interaction trapped 1 (KRIT1) by disease-associated mutations.
|
| Fisher OS, Liu W, Zhang R, Stiegler AL, Ghedia S, Weber JL, Boggon TJ.
|
| J Biol Chem 290(5):2842-53. doi: 10.1074/jbc.M114.616433. Epub 2014 Dec 18.
2015
|
| 3 | KRIT1
|
| KRIT1 protein depletion modifies endothelial cell behavior via increased vascular endothelial growth factor (VEGF) signaling.
|
| DiStefano PV, Kuebel JM, Sarelius IH, Glading AJ.
|
| J Biol Chem 289(47):33054-65. doi: 10.1074/jbc.M114.582304. Epub 2014 Oct 15.
2014
|
| 4 | CCM1, KRIT1
|
| A novel CCM1 mutation associated with multiple cerebral and vertebral cavernous malformations.
|
| Lanfranconi S, Ronchi D, Ahmed N, Civelli V, Basilico P, Bresolin N, Comi GP, Corti S.
|
| BMC Neurol 14:158. doi: 10.1186/s12883-014-0158-3.
2014
|
| 5 | KRIT1, SNX17
|
| Structural determinants for binding of sorting nexin 17 (SNX17) to the cytoplasmic adaptor protein Krev interaction trapped 1 (KRIT1).
|
| Stiegler AL, Zhang R, Liu W, Boggon TJ.
|
| J Biol Chem 289(36):25362-73. doi: 10.1074/jbc.M114.584011. Epub 2014 Jul 24.
2014
|
| 6 | KRIT1
|
| Unexpected distribution of KRIT1 inside the nucleus: new insight in a complex molecular pathway.
|
| Marzo S, Galimberti V, Biggiogera M.
|
| Eur J Histochem 58(1):2358. doi: 10.4081/ejh.2014.2358.
2014
|
| 7 | JUN, KRIT1
|
| KRIT1 loss of function causes a ROS-dependent upregulation of c-Jun.
|
| Goitre L, De Luca E, Braggion S, Trapani E, Guglielmotto M, Biasi F, Forni M, Moglia A, Trabalzini L, Retta SF.
|
| Free Radic Biol Med 68:134-47. doi: 10.1016/j.freeradbiomed.2013.11.020. Epub 2013 Nov 28.
2014
|
| 8 | HEG1, KRIT1
|
| Cerebral cavernous malformations arise independent of the heart of glass receptor.
|
| Zheng X, Riant F, Bergametti F, Myers CD, Tang AT, Kleaveland B, Pan W, Yang J, Tournier-Lasserve E, Kahn ML.
|
| Stroke 45(5):1505-9. doi: 10.1161/STROKEAHA.114.004809. Epub 2014 Mar 18.
2014
|
| 9 | ITGB1BP1, KRIT1
|
| Mechanism for KRIT1 release of ICAP1-mediated suppression of integrin activation.
|
| Liu W, Draheim KM, Zhang R, Calderwood DA, Boggon TJ.
|
| Mol Cell 49(4):719-29. doi: 10.1016/j.molcel.2012.12.005. Epub 2013 Jan 11.
2013
|
| 10 | ITGB1BP1, KRIT1
|
| CCM1-ICAP-1 complex controls β1 integrin-dependent endothelial contractility and fibronectin remodeling.
|
| Faurobert E, Rome C, Lisowska J, Manet-Dupé S, Boulday G, Malbouyres M, Balland M, Bouin AP, Kéramidas M, Bouvard D, Coll JL, Ruggiero F, Tournier-Lasserve E, Albiges-Rizo C.
|
| J Cell Biol 202(3):545-61. doi: 10.1083/jcb.201303044. 2013
|
| 11 | HEG1, KRIT1
|
| The structure of the ternary complex of Krev interaction trapped 1 (KRIT1) bound to both the Rap1 GTPase and the heart of glass (HEG1) cytoplasmic tail.
|
| Gingras AR, Puzon-McLaughlin W, Ginsberg MH.
|
| J Biol Chem 288(33):23639-49. doi: 10.1074/jbc.M113.462911. Epub 2013 Jun 27.
2013
|
| 12 | ITGB1BP1, KRIT1
|
| Cocrystal structure of the ICAP1 PTB domain in complex with a KRIT1 peptide.
|
| Liu W, Boggon TJ.
|
| Acta Crystallogr Sect F Struct Biol Cryst Commun 69(Pt 5):494-8. doi: 10.1107/S1744309113010762. Epub 2013 Apr 27. 2013
|
| 13 | KRIT1
|
| Identification of the Kelch family protein Nd1-L as a novel molecular interactor of KRIT1.
|
| Guazzi P, Goitre L, Ferro E, Cutano V, Martino C, Trabalzini L, Retta SF.
|
| PLoS One 7(9):e44705. doi: 10.1371/journal.pone.0044705. Epub 2012 Sep 6.
2012
|
| 14 | KRIT1
|
| Decreased Krev interaction-trapped 1 expression leads to increased vascular permeability and modifies inflammatory responses in vivo.
|
| Corr M, Lerman I, Keubel JM, Ronacher L, Misra R, Lund F, Sarelius IH, Glading AJ.
|
| Arterioscler Thromb Vasc Biol 32(11):2702-10. doi: 10.1161/ATVBAHA.112.300115. Epub 2012 Aug 23.
2012
|
| 15 | KRIT1
|
| 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 287(26):22317-27. doi: 10.1074/jbc.M112.361295. Epub 2012 May 10.
2012
|
| 16 | CCM2, CCM3, KRIT1, PDCD10
|
| Loss of cerebral cavernous malformation 3 (Ccm3) in neuroglia leads to CCM and vascular pathology.
|
| Louvi A, Chen L, Two AM, Zhang H, Min W, Günel M.
|
| Proc Natl Acad Sci U S A 108(9):3737-42. Epub 2011 Feb 14.
2011
|
| 17 | CCM1, KRIT1
|
| Cerebral cavernous malformation protein CCM1 inhibits sprouting angiogenesis by activating DELTA-NOTCH signaling.
|
| Wüstehube J, Bartol A, Liebler SS, Brütsch R, Zhu Y, Felbor U, Sure U, Augustin HG, Fischer A.
|
| Proc Natl Acad Sci U S A 107(28):12640-5. Epub 2010 Jun 24.PMID: 20616044 2010
|
| 18 | CCM2, KRIT1, ROCK1
|
| Cerebral cavernous malformations proteins inhibit Rho kinase to stabilize vascular integrity.
|
| Stockton RA, Shenkar R, Awad IA, Ginsberg MH.
|
| J Exp Med 207(4):881-96. doi: 10.1084/jem.20091258. Epub 2010 Mar 22.
2010
|
| 19 | CCM1, KRIT1
|
| Frequency and phenotypes of cutaneous vascular malformations in a consecutive series of 417 patients with familial cerebral cavernous malformations.
|
| Sirvente J, Enjolras O, Wassef M, Tournier-Lasserve E, Labauge P.
|
| J Eur Acad Dermatol Venereol 23(9):1066-72. Epub 2009 Apr 29.PMID: 19453802 2009
|
| 20 | CCM1, KRIT1
|
| Cutaneous venous malformations in familial cerebral cavernomatosis caused by KRIT1 gene mutations.
|
| Toll A, Parera E, Giménez-Arnau AM, Pou A, Lloreta J, Limaye N, Vikkula M, Pujol RM.
|
| Dermatology 218(4):307-13. Epub 2009 Jan 31.PMID: 19182478 2009
|
| 21 | HEG1, KRIT1
|
| Regulation of cardiovascular development and integrity by the heart of glass-cerebral cavernous malformation protein pathway.
|
| Kleaveland B, Zheng X, Liu JJ, Blum Y, Tung JJ, Zou Z, Sweeney SM, Chen M, Guo L, Lu MM, Zhou D, Kitajewski J, Affolter M, Ginsberg MH, Kahn ML.
|
| Nat Med 15(2):169-76. doi: 10.1038/nm.1918. Epub 2009 Jan 18. Erratum in: Nat Med. 2009 May;15(5):584. Sweeney, Shawn M [added].
2009
|
| 22 | KRIT1, CCM1, CCM2, PDCD10, CCM3
|
| 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, 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.
|
| Hum Mutat 29(5):709-17. 2008
|
| 23 | ITGB1BP1, KRIT1
|
| Krit1 modulates beta 1-integrin-mediated endothelial cell proliferation.
|
| Zhang J, Basu S, Rigamonti D, Dietz HC, Clatterbuck RE.
|
| Neurosurgery 63(3):571-8; discussion 578.PMID: 18812969 2008
|
| 24 | COL1A2, DEL7Q21, DYT11, KRIT1, SGCE, SHFM1
|
| Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype.
|
| Asmus F, Hjermind LE, Dupont E, Wagenstaller J, Haberlandt E, Munz M, Strom TM, Gasser T.
|
| Brain 130(Pt 10):2736-45. 2007
|
| 25 | KRIT1, RAP1A
|
| KRIT-1/CCM1 is a Rap1 effector that regulates endothelial cell cell junctions.
|
| Glading A, Han J, Stockton RA, Ginsberg MH.
|
| J Cell Biol 179(2):247-54.PMID: 17954608 2007
|
| 26 | CCM2, KRIT1
|
| Interaction between krit1 and malcavernin: implications for the pathogenesis of cerebral cavernous malformations.
|
| Zhang J, Rigamonti D, Dietz HC, Clatterbuck RE.
|
| Neurosurgery 60(2):353-9; discussion 359.PMID: 17290187 2007
|
| 27 | CCM1, CCM2, KRIT1, CCM3, PDCD10, CCM2
|
| Cerebral cavernous malformation: new molecular and clinical insights.
|
| Revencu N, Vikkula M.
|
| J Med Genet 43(9):716-21. Epub 2006 Mar 29. 2006
|
| 28 | CCM2, ITGB1BP1, KRIT1
|
| Neuronal expression of the Ccm2 gene in a new mouse model of cerebral cavernous malformations.
|
| Plummer NW, Squire TL, Srinivasan S, Huang E, Zawistowski JS, Matsunami H, Hale LP, Marchuk DA.
|
| Mamm Genome 17(2):119-28. Epub 2006 Feb 7.PMID: 16465592 2006
|
| 29 | KRIT1, CCM2, MAP3K3, CCM1
|
| 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 14(17):2521-31. Epub 2005 Jul 21. 2005
|
| 30 | CCM2, ITGB1BP1, KRIT1
|
| 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 14(17):2521-31. Epub 2005 Jul 21.PMID: 16037064 2005
|
| 31 | KRIT1, CCM1
|
| Search for loss of heterozygosity and mutation analysis of KRIT1 gene in CCM patients.
|
| Marini V, Ferrera L, Pigatto F, Origone P, Garre C, Dorcaratto A, Viale G, Alberti F, Mareni C.
|
| Am J Med Genet 130A(1):98-101. No abstract available. 2004
|
| 32 | KRIT1
|
| 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 325:63-78. 2004
|
| 33 | ACVRL1, CCM1, ENG, KRIT1
|
| Vascular morphogenesis: tales of two syndromes.
|
| Marchuk DA, Srinivasan S, Squire TL, Zawistowski JS.
|
| Hum Mol Genet 12(Suppl 1):R97-R112. 2003
|
| 34 | KRIT1, CCM1
|
| Identification of a novel KRIT1 mutation in an Italian family with cerebral cavernous malformation by the protein truncation test.
|
| Marini V, Ferrera L, Dorcaratto A, Viale G, Origone P, Mareni C, Garre C.
|
| J Neurol Sci 212(1-2):75-8. 2003
|
| 35 | KRIT1, CCM1
|
| A novel KRIT1/CCM1 truncating mutation in a patient with cerebral and retinal cavernous angiomas.
|
| Couteulx SL, Brezin AP, Fontaine B, Tournier-Lasserve E, Labauge P.
|
| Arch Ophthalmol 120(2):217-8. No abstract available. 2002
|
| 36 | KRIT1, ITGB1BP1, CCM1
|
| KRIT1 association with the integrin-binding protein ICAP-1: a new direction in the elucidation of cerebral cavernous malformations (CCM1) pathogenesis.
|
| Zawistowski JS, Serebriiskii IG, Lee MF, Golemis EA, Marchuk DA.
|
| Hum Mol Genet 11(4):389-96. 2002
|
| 37 | KRIT1, CCM1
|
| KRIT1, a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein.
|
| Gunel M, Laurans MS, Shin D, DiLuna ML, Voorhees J, Choate K, Nelson-Williams C, Lifton RP.
|
| Proc Natl Acad Sci U S A 99(16):10677-82. 2002
|
| 38 | KRIT1, CCM1
|
| Mutation and expression analysis of the KRIT1 gene associated with cerebral cavernous malformations (CCM1).
|
| Kehrer-Sawatzki H, Wilda M, Braun VM, Richter HP, Hameister H.
|
| Acta Neuropathol (Berl) 104(3):231-40. Epub 2002 Jun 26. 2002
|
| 39 | CCM1, CCM2, KRIT1
|
| Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations.
|
| Cave-Riant F, Denier C, Labauge P, Cecillon M, Maciazek J, Joutel A, Laberge-Le Couteulx S, Tournier-Lasserve E.
|
| Eur J Hum Genet 10(11):733-40. 2002
|
| 40 | KRIT1
|
| Computational and experimental analyses reveal previously undetected coding exons of the KRIT1 (CCM1) gene.
|
| 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.
|
| Genomics 71(1):123-6. 2001
|
| 41 | KRIT1, ITGB1BP1, ITGB1, CCM1
|
| Interaction between krit1 and icap1alpha infers perturbation of integrin beta1-mediated angiogenesis in the pathogenesis of cerebral cavernous malformation.
|
| Zhang J, Clatterbuck RE, Rigamonti D, Chang DD, Dietz HC.
|
| Hum Mol Genet 10(25):2953-60. 2001
|
| 42 | KRIT1, CCM1
|
| Identification of eight novel 5'-exons in cerebral capillary malformation gene-1 (CCM1) encoding KRIT1.
|
| Eerola I, McIntyre B, Vikkula M.
|
| Biochim Biophys Acta 1517(3):464-7. 2001
|
| 43 | KRIT1, CCM1
|
| KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation.
|
| Eerola I, Plate KH, Spiegel R, Boon LM, Mulliken JB, Vikkula M.
|
| Hum Mol Genet 9(9):1351-5. 2000
|
| 44 | KRIT1, CCM1
|
| Genetic heterogeneity and absence of founder effect in a series of 36 French cerebral cavernous angiomas families.
|
| Laberge S, et al.
|
| Eur J Hum Genet 7(4):499-504. 1999
|
| 45 | KRIT1, CCM1
|
| Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas.
|
| Laberge-le Couteulx S, et al.
|
| Nat Genet 23(2):189-93 1999
|
| 46 | KRIT1, CCM1
|
| Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1).
|
| Sahoo T, et al.
|
| Hum Mol Genet 8(12):2325-2333 1999
|
| 47 | KRIT1, CCM2, CCM3, CCM1
|
| Multilocus linkage identifies two new loci for a Mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27.
|
| Craig HD, et al.
|
| Hum Mol Genet 7 : 1851-1858. 1998
|
| 48 | EPB41, EPB41L2, KRIT1, MSN, MYO15A, MYO7A, NF2, PTPN14, PTPN21, PTPN3, RDX, EZR
|
| The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membrane.
|
| Chishti AH, Kim AC, Marfatia SM, Lutchman M, Hanspal M, Jindal H, Liu SC, Low PS, Rouleau GA, Mohandas N, Chasis JA, Conboy JG, Gascard P, Takakuwa Y, Huang SC, Benz EJ Jr, Bretscher A, Fehon RG, Gusella JF, Ramesh V, Solomon F, Marchesi VT, Tsukita S, Tsukita S, Hoover KB, et al.
|
| Trends Biochem Sci 23(8):281-2. Review. No abstract available 1998
|
| 49 | KRIT1, CCM1
|
| Linkage of the locus for cerebral cavernous hemangiomas to human chromosome 7q in four families of Mexican-American descent.
|
| Polymeropoulos MH, et al.
|
| Neurology 48 : 752-757. 1997
|
| 50 | KRIT1, CCM1
|
| Familial cavernous malformations in a large French kindred: mapping of the gene to the CCM1 locus on chromosome 7q.
|
| Notelet L, Chapon F, Khoury S, Vahedi K, Chodkiewicz JP, Courtheoux P, Iba-Zizen MT, Cabanis EA, Lechevalier B, Tournier-Lasserve E, Houtteville JP.
|
| J Neurol Neurosurg Psychiatry 63(1):40-5. 1997
|
| 51 | KRIT1
|
| Association of Krev-1/rap1a with Krit1, a novel ankyrin repeat-containing protein encoded by a gene mapping to 7q21-22.
|
| Serebriiskii I, Estojak J, Sonoda G, Testa JR, Golemis EA.
|
| Oncogene 15(9):1043-9. 1997
|
| 52 | KRIT1, CCM1
|
| A founder mutation as a cause of cerebral cavernous malformation in Hispanic Americans.
|
| GŸnel M, et al.
|
| N Engl J Med 334 : 946-951. 1996
|
| 53 | KRIT1, CCM1
|
| Refined localization of the cerebral cavernous malformation gene (CCM1) to a 4-cM interval of chromosome 7q contained in a well-defined YAC contig.
|
| Johnson EW, et al.
|
| Genome Res 5 : 368-380. 1995
|
| 54 | KRIT1, CCM1
|
| A gene responsible for cavernous malformations of the brain maps to chromosome 7q.
|
| Dubovsky J, et al.
|
| Hum Mol Genet 4 : 453-458. 1995
|
| 55 | KRIT1
|
| A locus for cerebral cavernous malformations maps to chromosome 7q in two families.
|
| Marchuk DA, et al.
|
| Genomics 28 : 311-314. 1995
|
| 56 | KRIT1, CCM1
|
| Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21.
|
| GŸnel M, et al.
|
| Proc Natl Acad Sci U S A 92 : 6620-6624. 1995
|