메뉴 건너뛰기




Volumn 104, Issue 3, 2002, Pages 231-240

Mutation and expression analysis of the KRIT1 gene associated with cerebral cavernous malformatoins (CCM1)

Author keywords

Cavernoma; CCM1; Expression and mutation analysis; KRIT1; RAPIA

Indexed keywords

GENE PRODUCT; PROTEIN KRIT; RAP PROTEIN; UNCLASSIFIED DRUG;

EID: 0036945852     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00401-002-0552-6     Document Type: Article
Times cited : (68)

References (28)
  • 1
    • 0021203187 scopus 로고
    • Cavernous hemangioma of the retina, cutaneous angiomas, and intracranial vascular lesion by computed tomography and nuclear magnetic resonance imaging
    • Schwartz AC, Weaver RG Jr, Bloomfield R, Tyler ME (1984) Cavernous hemangioma of the retina, cutaneous angiomas, and intracranial vascular lesion by computed tomography and nuclear magnetic resonance imaging. Am J Ophthalmol 98:483-487
    • (1984) Am. J. Ophthalmol. , vol.98 , pp. 483-487
    • Schwartz, A.C.1    Weaver R.G., Jr.2    Bloomfield, R.3    Tyler, M.E.4
  • 2
    • 0029096355 scopus 로고
    • Intracranial cavernous malformations: Lesion behavior and management strategies
    • Maraire JN, Awad IA (1995) Intracranial cavernous malformations: lesion behavior and management strategies. Neurosurgery 37:591-605
    • (1995) Neurosurgery , vol.37 , pp. 591-605
    • Maraire, J.N.1    Awad, I.A.2
  • 3
    • 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, Berney J (1989) 131 cases of cavernous angioma (cavernomas) of the CNS, discovered by retrospective analysis of 24,535 autopsies. Neurochirurgie 35: 82-83
    • (1989) Neurochirurgie , vol.35 , pp. 82-83
    • Otten, P.1    Pizzolato, G.P.2    Rilliet, B.3    Berney, J.4
  • 5
    • 0033051743 scopus 로고    scopus 로고
    • Genetic heterogeneity and absence of founder effect in a series of 36 French cerebral cavernous angiomas families
    • Laberge S, Labauge P, Marechal E, Maciazek J, Tournier-Lasserve E (1999) Genetic heterogeneity and absence of founder effect in a series of 36 French cerebral cavernous angiomas families. Eur J Hum Genet 7:499-504
    • (1999) Eur. J. Hum. Genet. , vol.7 , pp. 499-504
    • Laberge, S.1    Labauge, P.2    Marechal, E.3    Maciazek, J.4    Tournier-Lasserve, E.5
  • 8
    • 0030761145 scopus 로고    scopus 로고
    • Association of Krev-1/rap1a with Krit1, a novel ankyrin repeat-containing protein encoded by a gene mapping to 7q21-22
    • Serebriiskii I, Eskojak J, Sonoda G, Testa JR, Golemis EA (1997) Association of Krev-1/rap1a with Krit1, a novel ankyrin repeat-containing protein encoded by a gene mapping to 7q21-22. Oncogene 19:1043-1049
    • (1997) Oncogene , vol.19 , pp. 1043-1049
    • Serebriiskii, I.1    Eskojak, J.2    Sonoda, G.3    Testa, J.R.4    Golemis, E.A.5
  • 9
    • 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, Boon LM, Mulliken JB, Vikkula M (2000) KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation. Hum Mol Genet 9:1351-1355
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 1351-1355
    • Eerola, I.1    Plate, K.H.2    Spiegel, R.3    Boon, L.M.4    Mulliken, J.B.5    Vikkula, M.6
  • 12
    • 0035072776 scopus 로고    scopus 로고
    • Germline mutations in the CCM1 gene, encoding Krit1, cause cerebral cavernous malformations
    • Lucas M, Costa AF, Montori M, Solano F, Zayas MD, Izquierdo G (2001) Germline mutations in the CCM1 gene, encoding Krit1, cause cerebral cavernous malformations. Ann Neurol 49:529-532
    • (2001) Ann. Neurol. , vol.49 , pp. 529-532
    • Lucas, M.1    Costa, A.F.2    Montori, M.3    Solano, F.4    Zayas, M.D.5    Izquierdo, G.6
  • 14
    • 0034061825 scopus 로고    scopus 로고
    • Mutations in KRIT1 in familial cerebral cavernous malformations
    • Zhang J, Clatterbuck RE, Rigamonti D, Dietz HC (2000) Mutations in KRIT1 in familial cerebral cavernous malformations. Neurosurgery 46:1272-1277
    • (2000) Neurosurgery , vol.46 , pp. 1272-1277
    • Zhang, J.1    Clatterbuck, R.E.2    Rigamonti, D.3    Dietz, H.C.4
  • 15
    • 0035895816 scopus 로고    scopus 로고
    • Identification of eight novel 5′-exons in cerebral capillary malformation gene-1 (CCM1) encoding KRIT1
    • 1517
    • Eerola I, McIntyre B, Vikkula M (2001) Identification of eight novel 5′-exons in cerebral capillary malformation gene-1 (CCM1) encoding KRIT1. Biochim Biophys Acta 1517:464-467
    • (2001) Biochim. Biophys. Acta , pp. 464-467
    • Eerola, I.1    McIntyre, B.2    Vikkula, M.3
  • 16
    • 0034671077 scopus 로고    scopus 로고
    • Cloning of the murine Krit1 cDNA reveals novel mammalian 5′ coding exons
    • Zhang J, Clatterbuck RE, Rigamonti D, Dietz HC (2000) Cloning of the murine Krit1 cDNA reveals novel mammalian 5′ coding exons. Genomics 70:392-395
    • (2000) Genomics , vol.70 , pp. 392-395
    • Zhang, J.1    Clatterbuck, R.E.2    Rigamonti, D.3    Dietz, H.C.4
  • 17
    • 0032792551 scopus 로고    scopus 로고
    • The ankyrin repeat: A diversity of interactions on a common structural framework
    • Sedgwick SG, Smerdon SJ (1999) The ankyrin repeat: a diversity of interactions on a common structural framework. Trends Biochem Sci 24:311-316
    • (1999) Trends Biochem. Sci. , vol.24 , pp. 311-316
    • Sedgwick, S.G.1    Smerdon, S.J.2
  • 18
    • 0031081475 scopus 로고    scopus 로고
    • ERM proteins: Head-to-tail regulation of actin-plasma membrane interaction
    • Tsukita S, Yonemura S, Tsukita S (1997) ERM proteins: head-to-tail regulation of actin-plasma membrane interaction. Trends Biochem Sci 22:53-58
    • (1997) Trends Biochem. Sci. , vol.22 , pp. 53-58
    • Tsukita, S.1    Yonemura, S.2    Tsukita, S.3
  • 21
    • 0028246501 scopus 로고
    • Association of Rap1a and Rap1b proteins with late endocytic/phagocytic compartments and Rap2a with the Golgi complex
    • Pizon V, Desjardins M, Bucci C, Parton RG, Zerial M (1994) Association of Rap1a and Rap1b proteins with late endocytic/phagocytic compartments and Rap2a with the Golgi complex. J Cell Sci 107:1661-1670
    • (1994) J. Cell Sci. , vol.107 , pp. 1661-1670
    • Pizon, V.1    Desjardins, M.2    Bucci, C.3    Parton, R.G.4    Zerial, M.5
  • 23
    • 0027715424 scopus 로고
    • Enhanced expression of the murine FMR1 gene during germ cell proliferation suggests a special function in both the male and the female gonad
    • Baechner D, Manca A, Steinbach P, Wohrle D, Just W, Vogel W, Hameister H, Poustka A (1993) Enhanced expression of the murine FMR1 gene during germ cell proliferation suggests a special function in both the male and the female gonad. Hum Mol Genet 2:2043-2050
    • (1993) Hum. Mol. Genet. , vol.2 , pp. 2043-2050
    • Baechner, D.1    Manca, A.2    Steinbach, P.3    Wohrle, D.4    Just, W.5    Vogel, W.6    Hameister, H.7    Poustka, A.8
  • 25
    • 0034112646 scopus 로고    scopus 로고
    • Illegitimate splicing of the NF1 gene in healthy individuals mimics mutation-induced splicing alterations in NF1 patients
    • Wimmer K, Eckart M, Rehder H, Fonatsch C (2000) Illegitimate splicing of the NF1 gene in healthy individuals mimics mutation-induced splicing alterations in NF1 patients. Hum Genet 106:311-313
    • (2000) Hum. Genet. , vol.106 , pp. 311-313
    • Wimmer, K.1    Eckart, M.2    Rehder, H.3    Fonatsch, C.4
  • 26
    • 0030828764 scopus 로고    scopus 로고
    • The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis
    • Maheshwar MM, Cheadle JP, Jones AC, Myring J, Fryer AE, Harris PC, Sampson JR (1997) The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis. Hum Mol Genet 6:1991-1996
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 1991-1996
    • Maheshwar, M.M.1    Cheadle, J.P.2    Jones, A.C.3    Myring, J.4    Fryer, A.E.5    Harris, P.C.6    Sampson, J.R.7
  • 27
    • 0032401757 scopus 로고    scopus 로고
    • All in the family? New insights and questions regarding interconnectivity of Ras, Rap1 and Ral
    • Bos JL (1998) All in the family? New insights and questions regarding interconnectivity of Ras, Rap1 and Ral. EMBO J 17:6776-6782
    • (1998) EMBO J. , vol.17 , pp. 6776-6782
    • Bos, J.L.1
  • 28
    • 0029026103 scopus 로고
    • The cell cycle of the pseudostratified ventricular epithelium of the embryonic murine cerebral wall
    • Takahashi T, Nowakowski RS, Caviness VS Jr (1995) The cell cycle of the pseudostratified ventricular epithelium of the embryonic murine cerebral wall. J Neurosci 15:6046-6057
    • (1995) J. Neurosci. , vol.15 , pp. 6046-6057
    • Takahashi, T.1    Nowakowski, R.S.2    Caviness V.S., Jr.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.