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Volumn 12, Issue REV. ISS. 1, 2003, Pages

Notch signaling and inherited disease syndromes

Author keywords

[No Author keywords available]

Indexed keywords

NOTCH RECEPTOR;

EID: 0037390535     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (238)

References (62)
  • 1
  • 2
    • 0033617522 scopus 로고    scopus 로고
    • Notch signaling: Cell fate control and signal integration in development
    • Artavanis-Tsakonas, S., Rand, M.D. and Lake, R.J. (1999) Notch signaling: cell fate control and signal integration in development. Science, 284, 770-776.
    • (1999) Science , vol.284 , pp. 770-776
    • Artavanis-Tsakonas, S.1    Rand, M.D.2    Lake, R.J.3
  • 3
    • 0034633964 scopus 로고    scopus 로고
    • Notch signaling: A dance of proteins changing partners
    • Kadesch, T. (2000) Notch signaling: a dance of proteins changing partners. Exp. Cell Res., 260, 1-8.
    • (2000) Exp. Cell Res. , vol.260 , pp. 1-8
    • Kadesch, T.1
  • 4
    • 0034671686 scopus 로고    scopus 로고
    • Notch signaling: From the outside in
    • Mumm, J.S. and Kopan, R. (2000) Notch signaling: from the outside in. Dev. Biol., 228, 151-165.
    • (2000) Dev. Biol. , vol.228 , pp. 151-165
    • Mumm, J.S.1    Kopan, R.2
  • 5
    • 0033920919 scopus 로고    scopus 로고
    • Notch signal transduction: A real Rip and more
    • Weinmaster, G. (2000) Notch signal transduction: a real Rip and more. Curr. Opin. Genet. Dev., 10, 363-369.
    • (2000) Curr. Opin. Genet. Dev. , vol.10 , pp. 363-369
    • Weinmaster, G.1
  • 6
    • 0036236895 scopus 로고    scopus 로고
    • An invitation to T and more: Notch signaling in lymphopoiesis
    • Allman, D., Punt, J.A., Izon, D.J., Aster, J.C. and Pear, W.S. (2002) An invitation to T and more: notch signaling in lymphopoiesis. Cell, 109, S1-S11.
    • (2002) Cell , vol.109
    • Allman, D.1    Punt, J.A.2    Izon, D.J.3    Aster, J.C.4    Pear, W.S.5
  • 8
    • 0037087506 scopus 로고    scopus 로고
    • Notch: A membrane-bound transcription factor
    • Kopan, R. (2002) Notch: a membrane-bound transcription factor. J. Cell Sci., 115, 1095-1097.
    • (2002) J. Cell Sci. , vol.115 , pp. 1095-1097
    • Kopan, R.1
  • 10
    • 0036808812 scopus 로고    scopus 로고
    • Alagille syndrome: Chipping away at the tip of the iceberg
    • Krantz, I.D. (2002) Alagille syndrome: chipping away at the tip of the iceberg. Am. J. Med. Genet., 112, 160-162.
    • (2002) Am. J. Med. Genet. , vol.112 , pp. 160-162
    • Krantz, I.D.1
  • 14
    • 0037069322 scopus 로고    scopus 로고
    • Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome
    • McElhinney, D.B., Krantz, I.D., Bason, L., Piccoli, D.A., Emerick, K.M., Spinner, N.B. and Goldmuntz, E. (2002) Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome. Circulation, 106, 2567-2574.
    • (2002) Circulation , vol.106 , pp. 2567-2574
    • McElhinney, D.B.1    Krantz, I.D.2    Bason, L.3    Piccoli, D.A.4    Emerick, K.M.5    Spinner, N.B.6    Goldmuntz, E.7
  • 16
    • 0036808147 scopus 로고    scopus 로고
    • Supernumerary digital flexion creases: An additional clinical manifestation of Alagille syndrome
    • Kamath, B.M., Loomes, K.M., Oakey, R.J. and Krantz, I.D. (2002) Supernumerary digital flexion creases: an additional clinical manifestation of Alagille syndrome. Am. J. Med. Genet., 112, 171-175.
    • (2002) Am. J. Med. Genet. , vol.112 , pp. 171-175
    • Kamath, B.M.1    Loomes, K.M.2    Oakey, R.J.3    Krantz, I.D.4
  • 20
    • 0035864903 scopus 로고    scopus 로고
    • Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome
    • Morrissette, J.J.D., Colliton, R.P. and Spinner, N.B. (2001) Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome. Hum. Mol. Genet., 10, 405-413.
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 405-413
    • Morrissette, J.J.D.1    Colliton, R.P.2    Spinner, N.B.3
  • 21
    • 0036808221 scopus 로고    scopus 로고
    • Monozygotic twins with a severe form of Alagille syndrome and phenotypic discordance
    • Kamath, B.M., Krantz, I.D., Spinner, N.B., Heubi, J.E. and Piccoli, D.A. (2002) Monozygotic twins with a severe form of Alagille syndrome and phenotypic discordance. Am. J. Med. Genet., 112, 194-197.
    • (2002) Am. J. Med. Genet. , vol.112 , pp. 194-197
    • Kamath, B.M.1    Krantz, I.D.2    Spinner, N.B.3    Heubi, J.E.4    Piccoli, D.A.5
  • 23
    • 0036301840 scopus 로고    scopus 로고
    • Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of jagged1
    • Le Caignec, C., Lefevre, M., Schott, J.J., Chaventre, A., Gayet, M., Calais, C. and Moisan, J.P. (2002) Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of jagged1. Am. J. Hum. Genet., 71, 180-186.
    • (2002) Am. J. Hum. Genet. , vol.71 , pp. 180-186
    • Le Caignec, C.1    Lefevre, M.2    Schott, J.J.3    Chaventre, A.4    Gayet, M.5    Calais, C.6    Moisan, J.P.7
  • 28
    • 0036339631 scopus 로고    scopus 로고
    • A mouse model of Alagille syndrome: Notch2 as a genetic modifier of Jag1 haploinsufficiency
    • McCright, B., Lozier, J. and Gridley, T. (2002) A mouse model of Alagille syndrome: Notch2 as a genetic modifier of Jag1 haploinsufficiency. Development, 129, 1075-1082.
    • (2002) Development , vol.129 , pp. 1075-1082
    • McCright, B.1    Lozier, J.2    Gridley, T.3
  • 29
    • 0034610274 scopus 로고    scopus 로고
    • Members of the HRT family of basic helix-loop-helix proteins act as transcriptional repressors downstream of notch signaling
    • Nakagawa, O., McFadden, D.G., Nakagawa, M., Yanagisawa, H., Hu, T., Srivastava, D. and Olson, E.N. (2000) Members of the HRT family of basic helix-loop-helix proteins act as transcriptional repressors downstream of notch signaling. Proc. Natl Acad. Sci. USA, 97, 13655-13660.
    • (2000) Proc. Natl Acad. Sci. USA , vol.97 , pp. 13655-13660
    • Nakagawa, O.1    McFadden, D.G.2    Nakagawa, M.3    Yanagisawa, H.4    Hu, T.5    Srivastava, D.6    Olson, E.N.7
  • 30
    • 0037155232 scopus 로고    scopus 로고
    • HERP1 is a cell type-specific primary target of Notch
    • Iso, T., Chung, G., Hamamori, Y. and Kedes, L. (2002) HERP1 is a cell type-specific primary target of Notch. J. Biol. Chem., 277, 6598-6607.
    • (2002) J. Biol. Chem. , vol.277 , pp. 6598-6607
    • Iso, T.1    Chung, G.2    Hamamori, Y.3    Kedes, L.4
  • 32
    • 0037125957 scopus 로고    scopus 로고
    • Tetralogy of fallot and other congenital heart defects in Hcy2 mutant mice
    • Donovan, J., Kordylewska, A., Jan, Y.N. and Utset, M.F. (2002) Tetralogy of fallot and other congenital heart defects in Hcy2 mutant mice. Curr. Biol., 12, 1605-1610.
    • (2002) Curr. Biol. , vol.12 , pp. 1605-1610
    • Donovan, J.1    Kordylewska, A.2    Jan, Y.N.3    Utset, M.F.4
  • 33
    • 0030064549 scopus 로고    scopus 로고
    • Multiple vertebral segmentation defects: Analysis of 26 new patients and review of the literature
    • Mortier, G.R., Lachman, R.S., Bocian, M. and Rimoin, D.L. (1996) Multiple vertebral segmentation defects: analysis of 26 new patients and review of the literature. Am. J. Med. Genet., 61, 310-319.
    • (1996) Am. J. Med. Genet. , vol.61 , pp. 310-319
    • Mortier, G.R.1    Lachman, R.S.2    Bocian, M.3    Rimoin, D.L.4
  • 37
    • 0036332950 scopus 로고    scopus 로고
    • Axial skeletal defects caused by mutation in the spondylocostal dysplasia/pudgy gene D113 are associated with disruption of the segmentation clock within the presomitic mesoderm
    • Dunwoodie, S.L., Clements, M., Sparrow, D.B., Sa, X., Conlon, R.A. and Beddington, R.S. (2002) Axial skeletal defects caused by mutation in the spondylocostal dysplasia/pudgy gene D113 are associated with disruption of the segmentation clock within the presomitic mesoderm. Development, 129, 1795-1806.
    • (2002) Development , vol.129 , pp. 1795-1806
    • Dunwoodie, S.L.1    Clements, M.2    Sparrow, D.B.3    Sa, X.4    Conlon, R.A.5    Beddington, R.S.6
  • 38
    • 0035228344 scopus 로고    scopus 로고
    • A molecular clock involved in somite segmentation
    • Maroto, M. and Pourquié, O. (2001) A molecular clock involved in somite segmentation. Curr. Top. Dev. Biol., 51, 221-248.
    • (2001) Curr. Top. Dev. Biol. , vol.51 , pp. 221-248
    • Maroto, M.1    Pourquié, O.2
  • 39
    • 0036267319 scopus 로고    scopus 로고
    • Segmentation defects of Notch pathway mutants and absence of a synergistic phenotype in Lunatic fringe/Radical fringe double mutant mice
    • Zhang, N., Norton, C.R. and Gridley, T. (2002) Segmentation defects of Notch pathway mutants and absence of a synergistic phenotype in Lunatic fringe/Radical fringe double mutant mice. Genesis, 33, 21-28.
    • (2002) Genesis , vol.33 , pp. 21-28
    • Zhang, N.1    Norton, C.R.2    Gridley, T.3
  • 40
    • 0034684730 scopus 로고    scopus 로고
    • Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia
    • Iughetti, P., Alonso, L.G., Wilcox, W., Alonso, N. and Passos-Bueno, M.R. (2000) Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia. Am. J. Med. Genet., 95, 482-491.
    • (2000) Am. J. Med. Genet. , vol.95 , pp. 482-491
    • Iughetti, P.1    Alonso, L.G.2    Wilcox, W.3    Alonso, N.4    Passos-Bueno, M.R.5
  • 41
    • 0242593940 scopus 로고    scopus 로고
    • Glycosyltransferase activity of Fringe modulates Notch-Delta interactions
    • Bruckner, K., Perez, L., Clausen, H. and Cohen, S. (2000) Glycosyltransferase activity of Fringe modulates Notch-Delta interactions. Nature, 406, 411-415.
    • (2000) Nature , vol.406 , pp. 411-415
    • Bruckner, K.1    Perez, L.2    Clausen, H.3    Cohen, S.4
  • 43
    • 0032560814 scopus 로고    scopus 로고
    • Lunatic fringe is an essential mediator of somite segmentation and patterning
    • Evrard, Y.A., Lun, Y., Aulehla, A., Gan, L. and Johnson, R.L. (1998) Lunatic fringe is an essential mediator of somite segmentation and patterning. Nature, 394, 377-381.
    • (1998) Nature , vol.394 , pp. 377-381
    • Evrard, Y.A.1    Lun, Y.2    Aulehla, A.3    Gan, L.4    Johnson, R.L.5
  • 44
    • 0032560766 scopus 로고    scopus 로고
    • Defects in somite formation in Lunatic fringe deficient mice
    • Zhang, N. and Gridley, T (1998) Defects in somite formation in Lunatic fringe deficient mice. Nature, 394, 374-377.
    • (1998) Nature , vol.394 , pp. 374-377
    • Zhang, N.1    Gridley, T.2
  • 47
    • 0029050447 scopus 로고
    • Systemic vascular smooth muscle cell impairment in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
    • Ruchoux, M.M., Guerouaou, D., Vandenhaute, B., Pruvo, J.P., Vermersch, P. and Leys, D. (1995) Systemic vascular smooth muscle cell impairment in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Acta Neuropathol. (Berl.), 89, 500-512.
    • (1995) Acta Neuropathol. (Berl.) , vol.89 , pp. 500-512
    • Ruchoux, M.M.1    Guerouaou, D.2    Vandenhaute, B.3    Pruvo, J.P.4    Vermersch, P.5    Leys, D.6
  • 55
    • 0035856449 scopus 로고    scopus 로고
    • NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL
    • Dichgans, M., Herzog, J. and Gasser, T. (2001) NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL. Neurology, 57, 1714-1717.
    • (2001) Neurology , vol.57 , pp. 1714-1717
    • Dichgans, M.1    Herzog, J.2    Gasser, T.3
  • 59
    • 0034333446 scopus 로고    scopus 로고
    • Analysis of HeyL expression in wild-type and Notch pathway mutant mouse embryos
    • Leimeister, C., Schumacher, N., Steidl, C. and Gessler, M. (2000) Analysis of HeyL expression in wild-type and Notch pathway mutant mouse embryos. Mech. Dev., 98, 175-178.
    • (2000) Mech. Dev. , vol.98 , pp. 175-178
    • Leimeister, C.1    Schumacher, N.2    Steidl, C.3    Gessler, M.4
  • 60
    • 0034817456 scopus 로고    scopus 로고
    • Vascular expression of Notch pathway receptors and ligands is restricted to arterial vessels
    • Villa, N., Walker, L., Lindsell, C.E., Gasson, J., Iruela-Arispe, M.L. and Weinmaster, G. (2001) Vascular expression of Notch pathway receptors and ligands is restricted to arterial vessels. Mech. Dev., 108, 161-164.
    • (2001) Mech. Dev. , vol.108 , pp. 161-164
    • Villa, N.1    Walker, L.2    Lindsell, C.E.3    Gasson, J.4    Iruela-Arispe, M.L.5    Weinmaster, G.6
  • 61
    • 0036078659 scopus 로고    scopus 로고
    • Mouse Notch 3 expression in the pre- and postnatal brain: Relationship to the stroke and dementia syndrome CADASIL
    • Prakash, N., Hansson, E., Betsholtz, C., Mitsiadis, T. and Lendahl, U. (2002) Mouse Notch 3 expression in the pre- and postnatal brain: relationship to the stroke and dementia syndrome CADASIL. Exp. Cell Res., 278, 31-44.
    • (2002) Exp. Cell Res. , vol.278 , pp. 31-44
    • Prakash, N.1    Hansson, E.2    Betsholtz, C.3    Mitsiadis, T.4    Lendahl, U.5
  • 62
    • 0037221480 scopus 로고    scopus 로고
    • Transgenic mice expressing mutant Notch3 develop vascular alterations characteristic of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
    • Ruchoux, M.M., Domenga, V., Bruin, P., Maciazek, J., Limol, S., Tournier-Lasserve, E. and Joutel, A. (2003) Transgenic mice expressing mutant Notch3 develop vascular alterations characteristic of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Am. J. Pathol., 162, 329-342.
    • (2003) Am. J. Pathol. , vol.162 , pp. 329-342
    • Ruchoux, M.M.1    Domenga, V.2    Bruin, P.3    Maciazek, J.4    Limol, S.5    Tournier-Lasserve, E.6    Joutel, A.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.