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Volumn 60, Issue 7, 2003, Pages 1135-1138

Molecular genetic investigations in the CCM1 gene in sporadic cerebral cavernomas

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CCM1 GENE; CEREBRAL CAVERNOMA; CEREBROVASCULAR MALFORMATION; CHILD; CHROMOSOME 7Q; CONTROLLED STUDY; DNA SCREENING; FAMILIAL DISEASE; FEMALE; GENE; GENE LOCUS; GENE MUTATION; HUMAN; HUMAN TISSUE; KRIT1 GENE; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; PRIORITY JOURNAL;

EID: 0037426448     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000055470.62265.44     Document Type: Article
Times cited : (30)

References (34)
  • 2
    • 0024384777 scopus 로고
    • 131 Cases of cavernous angioma (cavernomas) of the CNS, discovered by retrospective analysis of 24,535 autopsies
    • Otten P, Pizzolato GP, Rilliet B, et al. 131 cases of cavernous angioma (cavernomas) of the CNS, discovered by retrospective analysis of 24,535 autopsies. Neurochirurgie 1989;35:82-83, 128-131.
    • (1989) Neurochirurgie , vol.35 , pp. 82-83
    • Otten, P.1    Pizzolato, G.P.2    Rilliet, B.3
  • 3
    • 0028206928 scopus 로고
    • The natural history of familial cavernous malformations: Results of an ongoing study
    • Zabramski JM, Wascher TM, Spetzler RF, et al. The natural history of familial cavernous malformations: results of an ongoing study. J Neurosurg 1994;80:422-432.
    • (1994) J Neurosurg , vol.80 , pp. 422-432
    • Zabramski, J.M.1    Wascher, T.M.2    Spetzler, R.F.3
  • 4
    • 0033015937 scopus 로고    scopus 로고
    • The natural history of cavernous malformations: A prospective study of 68 patients
    • Moriarity JL, Wetzel M, Clatterbuck RE, et al. The natural history of cavernous malformations: a prospective study of 68 patients. J Neurosurg 1999;44:1166-1171.
    • (1999) J Neurosurg , vol.44 , pp. 1166-1171
    • Moriarity, J.L.1    Wetzel, M.2    Clatterbuck, R.E.3
  • 5
    • 0028838285 scopus 로고
    • The natural history of cerebral cavernous malformations
    • Kondziolka D, Lunsford LD, Kestle JR. The natural history of cerebral cavernous malformations. J Neurosurg 1995;83:820-824.
    • (1995) J Neurosurg , vol.83 , pp. 820-824
    • Kondziolka, D.1    Lunsford, L.D.2    Kestle, J.R.3
  • 6
    • 0034107153 scopus 로고    scopus 로고
    • The natural history of familial cerebral cavernomas: A retrospective MRI study of 40 patients
    • Labauge P, Brunereau L, Levy C, et al. The natural history of familial cerebral cavernomas: a retrospective MRI study of 40 patients. J Neuroradiol 2000;42:327-332.
    • (2000) J Neuroradiol , vol.42 , pp. 327-332
    • Labauge, P.1    Brunereau, L.2    Levy, C.3
  • 7
    • 0032512325 scopus 로고    scopus 로고
    • Hereditary cerebral cavernous angiomas: Clinical and genetic features in 57 French families. Societe francaise de neurochirurgie
    • Labauge P, Laberge S, Brunereau L, et al. Hereditary cerebral cavernous angiomas: clinical and genetic features in 57 French families. Societe Francaise de Neurochirurgie. Lancet 1998;352:1892-1897.
    • (1998) Lancet , vol.352 , pp. 1892-1897
    • Labauge, P.1    Laberge, S.2    Brunereau, L.3
  • 8
    • 0023820545 scopus 로고
    • Cerebral cavernous malformations. Incidence and familial occurrence
    • Rigamonti D, Hadley MN, Drayer BP, et al. Cerebral cavernous malformations. Incidence and familial occurrence. N Engl J Med 1988;319:343-347.
    • (1988) N Engl J Med , vol.319 , pp. 343-347
    • Rigamonti, D.1    Hadley, M.N.2    Drayer, B.P.3
  • 9
    • 0035960627 scopus 로고    scopus 로고
    • Prospective follow-up of 33 asymptomatic patients with familial cerebral cavernous malformations
    • Labauge P, Brunereau L, Laberge S, et al. Prospective follow-up of 33 asymptomatic patients with familial cerebral cavernous malformations. Neurology 2001;57:1825-1828.
    • (2001) Neurology , vol.57 , pp. 1825-1828
    • Labauge, P.1    Brunereau, L.2    Laberge, S.3
  • 10
    • 0029020926 scopus 로고
    • Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21
    • Gunel M, Awad IA, Anson J, et al. Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21. Proc Natl Acad Sci USA 1995;92:6620-6624.
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 6620-6624
    • Gunel, M.1    Awad, I.A.2    Anson, J.3
  • 11
    • 13344294378 scopus 로고
    • 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, Iyer LM, Rich SS, et al. Refined localization of the cerebral cavernous malformation gene (CCM1) to a 4-cM interval of chromosome 7q contained in a well-defined YAC contig. Genome Res 1995;5:368-380.
    • (1995) Genome Res , vol.5 , pp. 368-380
    • Johnson, E.W.1    Iyer, L.M.2    Rich, S.S.3
  • 12
    • 0028941797 scopus 로고
    • A gene responsible for cavernous malformations of the brain maps to chromosome 7q
    • Dubovsky J, Zabramski JM, Kurth J, et al. A gene responsible for cavernous malformations of the brain maps to chromosome 7q. Hum Mol Genet 1995;4:453-458.
    • (1995) Hum Mol Genet , vol.4 , pp. 453-458
    • Dubovsky, J.1    Zabramski, J.M.2    Kurth, J.3
  • 13
    • 7844247192 scopus 로고    scopus 로고
    • Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27
    • Craig HD, Gunel M, Cepeda O, et al. Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27. Hum Mol Genet 1998;7:1851-1858.
    • (1998) Hum Mol Genet , vol.7 , pp. 1851-1858
    • Craig, H.D.1    Gunel, M.2    Cepeda, O.3
  • 14
    • 0030008998 scopus 로고    scopus 로고
    • Genetic heterogeneity of inherited cerebral cavernous malformation
    • Gunel M, Awad IA, Finberg K, et al. Genetic heterogeneity of inherited cerebral cavernous malformation. Neurosurgery 1996;38:1265-1271.
    • (1996) Neurosurgery , vol.38 , pp. 1265-1271
    • Gunel, M.1    Awad, I.A.2    Finberg, K.3
  • 15
    • 15844411517 scopus 로고    scopus 로고
    • A founder mutation as a cause of cerebral cavernous malformation in Hispanic Americans
    • Gunel M, Awad IA, Finberg K, et al. A founder mutation as a cause of cerebral cavernous malformation in Hispanic Americans. N Engl J Med 1996;334:946-951.
    • (1996) N Engl J Med , vol.334 , pp. 946-951
    • Gunel, M.1    Awad, I.A.2    Finberg, K.3
  • 16
    • 0032695959 scopus 로고    scopus 로고
    • Mutations in the gene encoding KRIT1, a Krev-1/rapla binding protein, cause cerebral cavernous malformations (CCM1)
    • Sahoo T, Johnson EW, Thomas JW, et al. Mutations in the gene encoding KRIT1, a Krev-1/rapla binding protein, cause cerebral cavernous malformations (CCM1). Hum Mol Genet 1999;8:2325-2333.
    • (1999) Hum Mol Genet , vol.8 , pp. 2325-2333
    • Sahoo, T.1    Johnson, E.W.2    Thomas, J.W.3
  • 17
    • 0034061825 scopus 로고    scopus 로고
    • Mutations in KRIT1 in familial cerebral cavernous malformations
    • Zhang J, Clatterbuck RE, Rigamonti D, et al. Mutations in KRIT1 in familial cerebral cavernous malformations. J Neurosurg 2000;46:1272-1277.
    • (2000) J Neurosurg , vol.46 , pp. 1272-1277
    • Zhang, J.1    Clatterbuck, R.E.2    Rigamonti, D.3
  • 18
    • 0035957111 scopus 로고    scopus 로고
    • CCM1 gene mutations in families segregating cerebral cavernous malformations
    • Davenport WJ, Siegel AM, Dichgans J, et al. CCM1 gene mutations in families segregating cerebral cavernous malformations. Neurology 2001;56:540-543.
    • (2001) Neurology , vol.56 , pp. 540-543
    • Davenport, W.J.1    Siegel, A.M.2    Dichgans, J.3
  • 19
    • 0034702087 scopus 로고    scopus 로고
    • KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation
    • Eerola I, Plate KH, Spiegel R, et al. KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation. Hum Mol Genet 2000;9:1351-1355.
    • (2000) Hum Mol Genet , vol.9 , pp. 1351-1355
    • Eerola, I.1    Plate, K.H.2    Spiegel, R.3
  • 20
    • 0032851217 scopus 로고    scopus 로고
    • Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas
    • Laberge-le Couteulx S, Jung HH, Labauge P, et al. Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas. Nat Genet 1999;23:189-193.
    • (1999) Nat Genet , vol.23 , pp. 189-193
    • Laberge-le Couteulx, S.1    Jung, H.H.2    Labauge, P.3
  • 21
    • 0035072776 scopus 로고    scopus 로고
    • Germline mutations in the CCM1 gene, encoding Kritl, cause cerebral cavernous malformations
    • Lucas M, Costa AF, Montori M, et al. Germline mutations in the CCM1 gene, encoding Kritl, cause cerebral cavernous malformations. Ann Neurol 2001;49:529-532.
    • (2001) Ann Neurol , vol.49 , pp. 529-532
    • Lucas, M.1    Costa, A.F.2    Montori, M.3
  • 22
    • 0036097023 scopus 로고    scopus 로고
    • Kritl missense mutations lead to splicing errors in cerebral cavernous malformation
    • Verlaan DJ, Siegel AM, Rouleau GA. Kritl missense mutations lead to splicing errors in cerebral cavernous malformation. Am J Hum Genet 2002;70:1564-1567.
    • (2002) Am J Hum Genet , vol.70 , pp. 1564-1567
    • Verlaan, D.J.1    Siegel, A.M.2    Rouleau, G.A.3
  • 23
    • 0036128428 scopus 로고    scopus 로고
    • A novel KRIT1/CCM1 truncating mutation in a patient with cerebral and retinal cavernous angiomas
    • Couteulx SL, Brezin AP, Fontaine B, et al. A novel KRIT1/CCM1 truncating mutation in a patient with cerebral and retinal cavernous angiomas. Arch Ophthalmol 2002;120:217-218.
    • (2002) Arch Ophthalmol , vol.120 , pp. 217-218
    • Couteulx, S.L.1    Brezin, A.P.2    Fontaine, B.3
  • 24
    • 0037090688 scopus 로고    scopus 로고
    • Cerebral cavernous malformation: Novel mutation in a Chinese family and evidence for heterogeneity
    • Chen DH, Lipe HP, Qin Z, et al. Cerebral cavernous malformation: novel mutation in a Chinese family and evidence for heterogeneity. J Neurol Sci 2002;196:91-96.
    • (2002) J Neurol Sci , vol.196 , pp. 91-96
    • Chen, D.H.1    Lipe, H.P.2    Qin, Z.3
  • 25
    • 0037177069 scopus 로고    scopus 로고
    • Cerebral cavernous malformations: Mutations in Kritl
    • Verlaan DJ, Davenport WJ, Stefan H, et al. Cerebral cavernous malformations: mutations in Kritl. Neurology 2002;58:853-857.
    • (2002) Neurology , vol.58 , pp. 853-857
    • Verlaan, D.J.1    Davenport, W.J.2    Stefan, H.3
  • 26
    • 0028882666 scopus 로고
    • Genetic alterations associated with the evolution and progression of astrocytic brain tumors
    • Ohgaki H, Schäuble B, zur Hausen A, et al. Genetic alterations associated with the evolution and progression of astrocytic brain tumors. Virchows Arch 1995;427:113-118.
    • (1995) Virchows Arch , vol.427 , pp. 113-118
    • Ohgaki, H.1    Schäuble, B.2    Zur Hausen, A.3
  • 27
    • 0030017885 scopus 로고    scopus 로고
    • Overexpression of the EGF receptor and p53 mutations are mutually exclusive in the evolution of primary and secondary glioblastomas
    • Watanabe K, Tachibana O, Sato K, et al. Overexpression of the EGF receptor and p53 mutations are mutually exclusive in the evolution of primary and secondary glioblastomas. Brain Pathol 1996;6:217-224.
    • (1996) Brain Pathol , vol.6 , pp. 217-224
    • Watanabe, K.1    Tachibana, O.2    Sato, K.3
  • 28
    • 0035895816 scopus 로고    scopus 로고
    • Identification of eight novel 5′-exons in cerebral capillary malformation gene-1 (CCM1) encoding KRIT1
    • 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;1517:464-467.
    • (2001) Biochim Biophys Acta , vol.1517 , pp. 464-467
    • Eerola, I.1    McIntyre, B.2    Vikkula, M.3
  • 29
    • 0035145528 scopus 로고    scopus 로고
    • Computational and experimental analyses reveal previously undetected coding exons of the KRIT1 (CCM1) gene
    • Sahoo T, Goenaga-Diaz E, Serebriiskii IG, et al. Computational and experimental analyses reveal previously undetected coding exons of the KRIT1 (CCM1) gene. Genomics 2001;71:123-126.
    • (2001) Genomics , vol.71 , pp. 123-126
    • Sahoo, T.1    Goenaga-Diaz, E.2    Serebriiskii, I.G.3
  • 30
    • 0033081407 scopus 로고    scopus 로고
    • The Rap1 GTPase functions as a regulator of morphogenesis in vivo
    • Asha H, de Ruiter ND, Wang MG, et al. The Rap1 GTPase functions as a regulator of morphogenesis in vivo. EMBO J 1999;18:605-615.
    • (1999) EMBO J , vol.18 , pp. 605-615
    • Asha, H.1    De Ruiter, N.D.2    Wang, M.G.3
  • 31
    • 0030761145 scopus 로고    scopus 로고
    • Association of Krev-1/rapla with Krit1, a novel ankyrin repeat-containing protein encoded by a gene mapping to 7q21-22
    • Serebriiskii I, Estojak J, Sonoda G, et al. Association of Krev-1/rapla with Krit1, a novel ankyrin repeat-containing protein encoded by a gene mapping to 7q21-22. Oncogene 1997;15:1043-1049.
    • (1997) Oncogene , vol.15 , pp. 1043-1049
    • Serebriiskii, I.1    Estojak, J.2    Sonoda, G.3
  • 32
    • 0032792551 scopus 로고    scopus 로고
    • The ankyrin repeat: A diversity of interactions on a common structural framework
    • Sedgwick SG, Smerdon SJ. The ankyrin repeat: a diversity of interactions on a common structural framework. Trends Biochem Sci 1999;24:311-316.
    • (1999) Trends Biochem Sci , vol.24 , pp. 311-316
    • Sedgwick, S.G.1    Smerdon, S.J.2
  • 33
    • 0035542933 scopus 로고    scopus 로고
    • 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, et al. Interaction between krit1 and icap1alpha infers perturbation of integrin beta1-mediated angiogenesis in the pathogenesis of cerebral cavernous malformation. Hum Mol Genet 2001;10:2953-2960.
    • (2001) Hum Mol Genet , vol.10 , pp. 2953-2960
    • Zhang, J.1    Clatterbuck, R.E.2    Rigamonti, D.3
  • 34
    • 0035106834 scopus 로고    scopus 로고
    • Appearance of new lesions in two nonfamilial cerebral cavernoma patients
    • Labauge P, Brunereau L, Coubes P, et al. Appearance of new lesions in two nonfamilial cerebral cavernoma patients. Eur Neurol 2001;45:83-88.
    • (2001) Eur Neurol , vol.45 , pp. 83-88
    • Labauge, P.1    Brunereau, L.2    Coubes, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.