메뉴 건너뛰기




Volumn 350, Issue 9090, 1997, Pages 1511-1515

Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients

Author keywords

[No Author keywords available]

Indexed keywords

ARTERY DISEASE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRAIN INFARCTION; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC TEST; EXON; GENE CLUSTER; GENE MUTATION; HUMAN; LEUKOENCEPHALOPATHY; MISSENSE MUTATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0031590602     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(97)08083-5     Document Type: Article
Times cited : (594)

References (24)
  • 1
    • 0017782948 scopus 로고
    • Chronic familial vascular encephalopathy
    • Stevens DL, Hewlett RH, Brownell B. Chronic familial vascular encephalopathy. Lancet 1977; ii: 1364-65.
    • (1977) Lancet , vol.2 , pp. 1364-1365
    • Stevens, D.L.1    Hewlett, R.H.2    Brownell, B.3
  • 2
    • 0023621324 scopus 로고
    • Hereditary multi-infarct dementia
    • Sonninen V, Savontaus ML. Hereditary multi-infarct dementia. Eur Neurol 1987; 27:209-15.
    • (1987) Eur Neurol , vol.27 , pp. 209-215
    • Sonninen, V.1    Savontaus, M.L.2
  • 3
  • 4
    • 0025735586 scopus 로고
    • Démence sous corticale familiale avec leucoencéphalopathie artériopathique: Observation clinicopathologique
    • Davous P, Fallet-Bianco C. Démence sous corticale familiale avec leucoencéphalopathie artériopathique: observation clinicopathologique.)Rev Neurol (Paris) 1991:, 5: 376-84.
    • (1991) Rev Neurol (Paris) , vol.5 , pp. 376-384
    • Davous, P.1    Fallet-Bianco, C.2
  • 5
    • 0025947095 scopus 로고
    • Autosomal dominant syndrome with stroke-like episodes and leukoencephalopathy
    • Tournier-Lasserve E, Iba-Zizen MT, Romero N, Bousser MG. Autosomal dominant syndrome with stroke-like episodes and leukoencephalopathy. Stroke 1991; 22: 1297-302.
    • (1991) Stroke , vol.22 , pp. 1297-1302
    • Tournier-Lasserve, E.1    Iba-Zizen, M.T.2    Romero, N.3    Bousser, M.G.4
  • 6
    • 0027479304 scopus 로고
    • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL.) maps on chromosome 19q12
    • Tournier-Lasserve E, Joutel A, Melki J, et al. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL.) maps on chromosome 19q12. Nature Genet 1993; 3:256-59.
    • (1993) Nature Genet , vol.3 , pp. 256-259
    • Tournier-Lasserve, E.1    Joutel, A.2    Melki, J.3
  • 7
    • 0027390357 scopus 로고
    • Autosomal dominant leukoencephalopathy and subcortical ischaemic stroke: A clinicopathological study
    • Baudrimont M, Dubas F, Joutel A, Tournier-Lasserve E, Bousser MG. Autosomal dominant leukoencephalopathy and subcortical ischaemic stroke: a clinicopathological study. Stroke 1993; 24:122-25.
    • (1993) Stroke , vol.24 , pp. 122-125
    • Baudrimont, M.1    Dubas, F.2    Joutel, A.3    Tournier-Lasserve, E.4    Bousser, M.G.5
  • 8
    • 0029050447 scopus 로고
    • Systematic vascular smooth muscle cell impairment in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
    • Ruchoux MM, Djelloul G, Vandenhaute G, Pruvo JP, Vermesch P, Leys D. Systematic vascular smooth muscle cell impairment in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Acta Neuropathol 1995; 89:500-12.
    • (1995) Acta Neuropathol , vol.89 , pp. 500-512
    • Ruchoux, M.M.1    Djelloul, G.2    Vandenhaute, G.3    Pruvo, J.P.4    Vermesch, P.5    Leys, D.6
  • 9
    • 0029655609 scopus 로고    scopus 로고
    • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, genetic homogeneity and mapping of the locus within a 2-cM interval
    • Ducros A, Nagy T, Alamowitch S, et al. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, genetic homogeneity and mapping of the locus within a 2-cM interval. Am J Hum Genet 1996; 58:171-81.
    • (1996) Am J Hum Genet , vol.58 , pp. 171-181
    • Ducros, A.1    Nagy, T.2    Alamowitch, S.3
  • 10
    • 0029089247 scopus 로고
    • Clinical spectrum of CADASIL: A study of 7 families
    • Chabriat H, Vahedi K, Iba-Zizen MT, et al. Clinical spectrum of CADASIL: a study of 7 families. Lancet 1995; 346:934-39.
    • (1995) Lancet , vol.346 , pp. 934-939
    • Chabriat, H.1    Vahedi, K.2    Iba-Zizen, M.T.3
  • 11
    • 16044362074 scopus 로고    scopus 로고
    • Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia
    • Joutel A, Corpechot C, Ducros A et al. Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature 1996; 383:707-10.
    • (1996) Nature , vol.383 , pp. 707-710
    • Joutel, A.1    Corpechot, C.2    Ducros, A.3
  • 13
    • 0027306001 scopus 로고
    • Specific truncations of Drosophila Notch define dominant activated and dominant negative forms of the receptor
    • Rebay I, Fehon R, Artavanis-Tsakonas S. Specific truncations of Drosophila Notch define dominant activated and dominant negative forms of the receptor. Cell 1993; 74:319-29.
    • (1993) Cell , vol.74 , pp. 319-329
    • Rebay, I.1    Fehon, R.2    Artavanis-Tsakonas, S.3
  • 14
    • 0026086474 scopus 로고
    • Specific EGF repeats of Notch mediate interactions with Delta and Serrate: Implications for Notch as a multifunctional receptor
    • Rebay I, Fleming RJ, Fehon RG, Cherbas L, Artavanis-Tsakonas S. Specific EGF repeats of Notch mediate interactions with Delta and Serrate: implications for Notch as a multifunctional receptor. Cell 1991; 67: 687-99.
    • (1991) Cell , vol.67 , pp. 687-699
    • Rebay, I.1    Fleming, R.J.2    Fehon, R.G.3    Cherbas, L.4    Artavanis-Tsakonas, S.5
  • 16
  • 17
    • 0024240702 scopus 로고
    • DELTA, a Drosophila neurogenic gene, is transcription ally complex and encodes a protein related to blood coagulation factors and epidermal growth factor of vertebrates
    • Kopczynski CC, Alton AK, Fetchel K, Kooh PJ, Muskavitch MAT. DELTA, a Drosophila neurogenic gene, is transcription ally complex and encodes a protein related to blood coagulation factors and epidermal growth factor of vertebrates. Genes Devlop 1988; 2:1723-35.
    • (1988) Genes Devlop , vol.2 , pp. 1723-1735
    • Kopczynski, C.C.1    Alton, A.K.2    Fetchel, K.3    Kooh, P.J.4    Muskavitch, M.A.T.5
  • 18
    • 0025607925 scopus 로고
    • The gene Serrate encodes a putative EGF-like transmembrane protein essential for proper ectodermal development in Drosophila melanogaster
    • Fleming RJ, Scottgale TN, Diederich RJ, Artavanis-Tsakonas S. The gene Serrate encodes a putative EGF-like transmembrane protein essential for proper ectodermal development in Drosophila melanogaster, Genes Develop 1990; 4:2188-201.
    • (1990) Genes Develop , vol.4 , pp. 2188-2201
    • Fleming, R.J.1    Scottgale, T.N.2    Diederich, R.J.3    Artavanis-Tsakonas, S.4
  • 19
    • 0029363136 scopus 로고
    • Vertebrate ligands for Notch
    • Nye JS, Kopan R. Vertebrate ligands for Notch. Curr Biol 1995; 5:966-69.
    • (1995) Curr Biol , vol.5 , pp. 966-969
    • Nye, J.S.1    Kopan, R.2
  • 20
    • 0028307058 scopus 로고
    • Stabilization of an active dimeric form of the epidermal growth factor receptor by introduction of an inter-receptor disulfide bond
    • Sorokin A, Lemmon MA, Ullrich A, Schlessinger J. Stabilization of an active dimeric form of the epidermal growth factor receptor by introduction of an inter-receptor disulfide bond. J Biol Chem 1994; 269:9752-59.
    • (1994) J Biol Chem , vol.269 , pp. 9752-9759
    • Sorokin, A.1    Lemmon, M.A.2    Ullrich, A.3    Schlessinger, J.4
  • 21
    • 0028846512 scopus 로고
    • Constitutive activation of fibroblast growth factor receptor-2 by a point mutation associated with Crouzon syndrome
    • Neilson KM, Friesel RE. Constitutive activation of fibroblast growth factor receptor-2 by a point mutation associated with Crouzon syndrome. J Biol Chem 1995; 270:26037-40.
    • (1995) J Biol Chem , vol.270 , pp. 26037-26040
    • Neilson, K.M.1    Friesel, R.E.2
  • 22
    • 0028914683 scopus 로고
    • Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B
    • Santoro M, Carlomagno F, Romano A, et al. Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B. Science 1995; 267: 381-83.
    • (1995) Science , vol.267 , pp. 381-383
    • Santoro, M.1    Carlomagno, F.2    Romano, A.3
  • 23
    • 0023661270 scopus 로고
    • Mutations altering the structure of epidermal growth factor-like coding sequences at the drosophila Notch locus
    • Kelley MR, Kidd S, Deutsch WA, Young MW. Mutations altering the structure of epidermal growth factor-like coding sequences at the drosophila Notch locus. Cell 1987; 51: 539-48.
    • (1987) Cell , vol.51 , pp. 539-548
    • Kelley, M.R.1    Kidd, S.2    Deutsch, W.A.3    Young, M.W.4
  • 24
    • 0025959223 scopus 로고
    • Cell-autonomous role of Notch, an epidermal growth factor homologue, in sensory organ differentiation in Drosophila
    • De Celis JF, Mari-Beffa M, Garcia-Bellido A. Cell-autonomous role of Notch, an epidermal growth factor homologue, in sensory organ differentiation in Drosophila. Proc Natl Acad Sci USA 1991; 88:632-36.
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 632-636
    • De Celis, J.F.1    Mari-Beffa, M.2    Garcia-Bellido, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.