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Volumn 130 A, Issue 1, 2004, Pages 98-101

Search for loss of heterozygosity and mutation analysis of KRIT1 gene in CCM patients [2]

Author keywords

[No Author keywords available]

Indexed keywords

BRAIN MALFORMATION; CEREBRAL CAVERNOUS MALFORMATION; CLINICAL ARTICLE; GENE MUTATION; HETEROZYGOSITY LOSS; HUMAN; KRIT1 GENE; LETTER; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

EID: 4344612627     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30122     Document Type: Letter
Times cited : (18)

References (12)
  • 2
    • 0034925464 scopus 로고    scopus 로고
    • Ultrastructural and immunocytochemical evidence that an incompetent blood-brain barrier is related to pathophysiology of cavernous malformations
    • Clatterbuck RE, Eberhart CG, Crain BJ, Rigamonti D. 2001. Ultrastructural and immunocytochemical evidence that an incompetent blood-brain barrier is related to pathophysiology of cavernous malformations. J Neurol Neurosurg Psychiatry 71:188-198.
    • (2001) J Neurol Neurosurg Psychiatry , vol.71 , pp. 188-198
    • Clatterbuck, R.E.1    Eberhart, C.G.2    Crain, B.J.3    Rigamonti, D.4
  • 3
    • 0036768349 scopus 로고    scopus 로고
    • KRIT1/cerebral cavernous malformation 1 mRNA is preferentially expressed in neurons and epithelial cells in embryo and adult
    • Denier C, Gasc J-M, Chapon F, Domenga V, Lescoat C, Joutel A, Tournier-Lasserve E. 2002. KRIT1/cerebral cavernous malformation 1 mRNA is preferentially expressed in neurons and epithelial cells in embryo and adult. Mech Develop 117:363-367.
    • (2002) Mech Develop , vol.117 , pp. 363-367
    • Denier, C.1    Gasc, J.-M.2    Chapon, F.3    Domenga, V.4    Lescoat, C.5    Joutel, A.6    Tournier-Lasserve, E.7
  • 5
    • 0036945852 scopus 로고    scopus 로고
    • 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. 2002. Mutation and expression analysis of the KRIT1 gene associated with cerebral cavernous malformations (CCM1). Acta Neuropathol 104:231-240.
    • (2002) Acta Neuropathol , vol.104 , pp. 231-240
    • Kehrer-Sawatzki, H.1    Wilda, M.2    Braun, V.M.3    Richter, H.P.4    Hameister, H.5
  • 8
    • 0037602235 scopus 로고    scopus 로고
    • 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, Garrè C. 2003. Identification of a novel KRIT1 mutation in an Italian family with cerebral cavernous malformation by the protein truncation test. J Neurol Sci 212:75-78.
    • (2003) J Neurol Sci , vol.212 , pp. 75-78
    • Marini, V.1    Ferrera, L.2    Dorcaratto, A.3    Viale, G.4    Origone, P.5    Mareni, C.6    Garrè, C.7
  • 9
    • 0037426448 scopus 로고    scopus 로고
    • Molecular genetic investigation in the CCM1 gene in sporadic cerebral cavernomas
    • Reich P, Wilkler J, Straube A, Steiger HJ, Peraud A. 2003. Molecular genetic investigation in the CCM1 gene in sporadic cerebral cavernomas. Neurol 60:1135-1138.
    • (2003) Neurol , vol.60 , pp. 1135-1138
    • Reich, P.1    Wilkler, J.2    Straube, A.3    Steiger, H.J.4    Peraud, A.5
  • 12
    • 0035542933 scopus 로고    scopus 로고
    • Interaction between krit1 and icap1α infers perturbation of integrin β1-mediated angiogenesis in the phathogenesis of cerebral cavernous malformation
    • Zhang J, Clatterbuck RE, Rigamonti D, Chang DD, Dietez HC. 2001. Interaction between krit1 and icap1α infers perturbation of integrin β1-mediated angiogenesis in the phathogenesis of cerebral cavernous malformation. Hum Mol Genet 10:2953-2960.
    • (2001) Hum Mol Genet , vol.10 , pp. 2953-2960
    • Zhang, J.1    Clatterbuck, R.E.2    Rigamonti, D.3    Chang, D.D.4    Dietez, H.C.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.