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Volumn 111, Issue 3, 2003, Pages 323-332

Osteopetrosis and thalamic hypomyelinosis with synaptic degeneration in DAP12-deficient mice

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; KILLER CELL ACTIVATING RECEPTOR ASSOCIATED PROTEIN; UNCLASSIFIED DRUG;

EID: 0037314230     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI16923     Document Type: Article
Times cited : (298)

References (41)
  • 1
    • 0015736566 scopus 로고
    • A lipid metabolic disease-"membranous lipodystrophy"-an autopsy case demonstrating numerous peculiar membrane-structures composed of compound lipid in bone and bone marrow and various adipose tissues
    • Nasu, T., Tsukahara, Y., and Terayama, K. 1973. A lipid metabolic disease-"membranous lipodystrophy"-an autopsy case demonstrating numerous peculiar membrane-structures composed of compound lipid in bone and bone marrow and various adipose tissues. Acta Pathol. Jpn. 23:539-558.
    • (1973) Acta Pathol. Jpn. , vol.23 , pp. 539-558
    • Nasu, T.1    Tsukahara, Y.2    Terayama, K.3
  • 2
    • 0015443132 scopus 로고
    • Neuropsychiatric and genetic aspects of a new hereditary disease characterized by progressive dementia and lipomembranous polycystic osteodysplasia
    • Hakola, H.P.A. 1972. Neuropsychiatric and genetic aspects of a new hereditary disease characterized by progressive dementia and lipomembranous polycystic osteodysplasia. Acta Psychiatr. Scand. 232(Suppl.):1-173.
    • (1972) Acta Psychiatr. Scand. , vol.232 , Issue.SUPPL. , pp. 1-173
    • Hakola, H.P.A.1
  • 3
    • 0030882883 scopus 로고    scopus 로고
    • Nasu-Hakola syndrome: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy and presenile dementia
    • Verloes, A., et al. 1997. Nasu-Hakola syndrome: polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy and presenile dementia. J. Med. Genet. 34:753-757.
    • (1997) J. Med. Genet. , vol.34 , pp. 753-757
    • Verloes, A.1
  • 4
    • 0033772598 scopus 로고    scopus 로고
    • Nasu-Hakola disease: A review of its leukoencephalopathic and membranolipodystrophic features
    • Tanaka, J. 2000. Nasu-Hakola disease: a review of its leukoencephalopathic and membranolipodystrophic features. Neuropathology. 20:S25-S29.
    • (2000) Neuropathology , vol.20
    • Tanaka, J.1
  • 5
    • 0035849495 scopus 로고    scopus 로고
    • CNS manifestations of Nasu-Hakola disease: A frontal dementia with bone cysts
    • Paloneva, J., et al. 2001. CNS manifestations of Nasu-Hakola disease: a frontal dementia with bone cysts. Neurology. 56:1552-1558.
    • (2001) Neurology , vol.56 , pp. 1552-1558
    • Paloneva, J.1
  • 6
    • 0033945864 scopus 로고    scopus 로고
    • Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts
    • Paloneva, J., et al. 2000. Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts. Nat. Genet. 25:357-361.
    • (2000) Nat. Genet. , vol.25 , pp. 357-361
    • Paloneva, J.1
  • 7
    • 0031154290 scopus 로고    scopus 로고
    • Killer-cell activatory receptors for MHC class I molecules are included in a multimeric complex expressed by human killer cells
    • Olcese, L., et al. 1997. Killer-cell activatory receptors for MHC class I molecules are included in a multimeric complex expressed by human killer cells. J. Immunol. 158:5083-5086.
    • (1997) J. Immunol. , vol.158 , pp. 5083-5086
    • Olcese, L.1
  • 8
    • 0032510146 scopus 로고    scopus 로고
    • Immunoreceptor DAP12 bearing a tyrosine-based activation motif is involved in activating NK cells
    • Lanier, L.L., Corliss, B.C., Wu, J., Leong, C., and Phillips, J.H. 1998. Immunoreceptor DAP12 bearing a tyrosine-based activation motif is involved in activating NK cells. Nature. 391:703-707.
    • (1998) Nature , vol.391 , pp. 703-707
    • Lanier, L.L.1    Corliss, B.C.2    Wu, J.3    Leong, C.4    Phillips, J.H.5
  • 9
    • 0035086799 scopus 로고    scopus 로고
    • Cloning and characterization of a novel mouse myeloid DAP12-associated receptor family
    • Daws, M.R., Lanier, L.L., Seaman, W.E., and Ryan, J.C. 2001. Cloning and characterization of a novel mouse myeloid DAP12-associated receptor family. Eur J. Immunol. 31:783-791.
    • (2001) Eur J. Immunol. , vol.31 , pp. 783-791
    • Daws, M.R.1    Lanier, L.L.2    Seaman, W.E.3    Ryan, J.C.4
  • 10
    • 0035887503 scopus 로고    scopus 로고
    • A DAP12-mediated pathway regulates expression of CC chemokine receptor 7 and maturation of human dendritic cells
    • Bouchon, A., Hernández-Munain, C., Cella, M., and Colonna, M. 2001. A DAP12-mediated pathway regulates expression of CC chemokine receptor 7 and maturation of human dendritic cells. J. Exp. Med 194:1111-1122.
    • (2001) J. Exp. Med. , vol.194 , pp. 1111-1122
    • Bouchon, A.1    Hernández-Munain, C.2    Cella, M.3    Colonna, M.4
  • 11
    • 0033671748 scopus 로고    scopus 로고
    • DAP12-deficient mice fail to develop autoimmunity due to impaired antigen priming
    • Bakker, A.B.H., et al. 2000. DAP12-deficient mice fail to develop autoimmunity due to impaired antigen priming. Immunity. 13:345-353.
    • (2000) Immunity , vol.13 , pp. 345-353
    • Bakker, A.B.H.1
  • 12
    • 0033662295 scopus 로고    scopus 로고
    • Combined natural killer cell and dendritic cell functional deficiency in KARAP/DAP12 loss-of-function mutant mice
    • Tornasello, E., et al. 2000. Combined natural killer cell and dendritic cell functional deficiency in KARAP/DAP12 loss-of-function mutant mice. Immunity. 13:355-364.
    • (2000) Immunity , vol.13 , pp. 355-364
    • Tornasello, E.1
  • 13
    • 0034292389 scopus 로고    scopus 로고
    • The role of the DAP12 signal in mouse myeloid differentiation
    • Aoki, N., et al. 2000. The role of the DAP12 signal in mouse myeloid differentiation. J. Immunol. 165:3790-3796.
    • (2000) J. Immunol. , vol.165 , pp. 3790-3796
    • Aoki, N.1
  • 14
    • 18544390923 scopus 로고    scopus 로고
    • Mutations in two genes encoding different sub-units of a receptor signaling complex result in an identical disease phenotype
    • Paloneva, J., et al. 2002. Mutations in two genes encoding different sub-units of a receptor signaling complex result in an identical disease phenotype. Am. J. Hum. Genet. 71:656-662.
    • (2002) Am. J. Hum. Genet. , vol.71 , pp. 656-662
    • Paloneva, J.1
  • 15
    • 0028042424 scopus 로고
    • FcR γ chain deletion results in pleiotrophic effector cell defects
    • Takai, T., Li, M., Sylvestre, D., Clynes, R., and Ravetch, J.V. 1994. FcR γ chain deletion results in pleiotrophic effector cell defects. Cell. 76:519-529.
    • (1994) Cell , vol.76 , pp. 519-529
    • Takai, T.1    Li, M.2    Sylvestre, D.3    Clynes, R.4    Ravetch, J.V.5
  • 16
    • 0034055919 scopus 로고    scopus 로고
    • Fyn tyrosine kinase participates in the compact myelin sheath formation in the central nervous system
    • Seiwa, C., Sugiyama, I., Yagi, T., Iguchi, T., and Asou, H. 2000. Fyn tyrosine kinase participates in the compact myelin sheath formation in the central nervous system. Neurosci. Res. 37:21-31.
    • (2000) Neurosci. Res. , vol.37 , pp. 21-31
    • Seiwa, C.1    Sugiyama, I.2    Yagi, T.3    Iguchi, T.4    Asou, H.5
  • 17
    • 0024246302 scopus 로고
    • Differential expression of galactocerebroside, myelin basic protein, and 2′,3′-cyclic nucleotide 3′-phosphohydrolase during development of oligodendrocytes in vitro
    • Knapp, P.E., Skoff, R.P., and Sprinkle, T. J. 1988. Differential expression of galactocerebroside, myelin basic protein, and 2′,3′-cyclic nucleotide 3′-phosphohydrolase during development of oligodendrocytes in vitro. J. Neurosci. Res. 21:249-259.
    • (1988) J. Neurosci. Res. , vol.21 , pp. 249-259
    • Knapp, P.E.1    Skoff, R.P.2    Sprinkle, T.J.3
  • 18
    • 0011186950 scopus 로고
    • Growth requirement in vitro of oligodendrocyte cell lines and neonatal rat brain oligodendrocytes
    • Bottenstein, J.E. 1986. Growth requirement in vitro of oligodendrocyte cell lines and neonatal rat brain oligodendrocytes. Proc. Natl. Acad. Sci USA. 83:1955-1959.
    • (1986) Proc. Natl. Acad. Sci. USA , vol.83 , pp. 1955-1959
    • Bottenstein, J.E.1
  • 19
    • 0018909905 scopus 로고
    • 125I]insulin to specific receptors and stimulation of nucleotide incorporation in cells cultured from rat brain
    • 125I]insulin to specific receptors and stimulation of nucleotide incorporation in cells cultured from rat brain. Brain Res. 200:389-400.
    • (1980) Brain Res. , vol.200 , pp. 389-400
    • Raizada, M.K.1    Yang, J.W.2    Follows, R.E.3
  • 20
    • 0030908243 scopus 로고    scopus 로고
    • Indication of myelin-associated glycoprotein expression through neuron-oligodendrocyte contact
    • Matsuda, Y., Koito, H., and Yamamoto, H. 1997. Indication of myelin-associated glycoprotein expression through neuron-oligodendrocyte contact. Dev. Brain Res. 100:110-116.
    • (1997) Dev. Brain Res. , vol.100 , pp. 110-116
    • Matsuda, Y.1    Koito, H.2    Yamamoto, H.3
  • 21
    • 0035368738 scopus 로고    scopus 로고
    • 2+ channels to reduce GABA release onto rat striatal cholinergic interneuzrones
    • 2+ channels to reduce GABA release onto rat striatal cholinergic interneuzrones. J. Physiol. (Lond.) 533:479-492.
    • (2001) J. Physiol. (Lond.) , vol.533 , pp. 479-492
    • Momiyama, T.1    Koga, E.2
  • 22
    • 0032709773 scopus 로고    scopus 로고
    • KAP10, a novel transmembrane adapter protein genetically linked to DAP12 but with unique signaling properties
    • Chang, C., et al. 1999. KAP10, a novel transmembrane adapter protein genetically linked to DAP12 but with unique signaling properties. J. Immunol. 163:4651-4654.
    • (1999) J. Immunol. , vol.163 , pp. 4651-4654
    • Chang, C.1
  • 23
    • 0033618624 scopus 로고    scopus 로고
    • An activating immunoreceptor complex formed by NKG2D and DAP10
    • Wu, J., et al. 1999. An activating immunoreceptor complex formed by NKG2D and DAP10. Science. 285:730-732.
    • (1999) Science , vol.285 , pp. 730-732
    • Wu, J.1
  • 24
    • 0025332897 scopus 로고
    • The murine mutation osteopetrosis is in the coding region of the macrophage colony stimulating factor gene
    • Yoshida, H., et al. 1990.The murine mutation osteopetrosis is in the coding region of the macrophage colony stimulating factor gene. Nature. 345:442-444.
    • (1990) Nature , vol.345 , pp. 442-444
    • Yoshida, H.1
  • 25
    • 0035478997 scopus 로고    scopus 로고
    • Mouse models of abnormal skeletal development and homeostasis
    • McLean, W., and Olsen, B.R. 2001. Mouse models of abnormal skeletal development and homeostasis. Trends Genet. 17:S38-S43.
    • (2001) Trends Genet. , vol.17
    • McLean, W.1    Olsen, B.R.2
  • 26
    • 0025903876 scopus 로고
    • Essential role of macrophage colony-stimulating factor in the osteoclast differentiation supported by stromal cells
    • Kodama, H., Nose, M., Niida, S., and Yamasaki, A. 1991. Essential role of macrophage colony-stimulating factor in the osteoclast differentiation supported by stromal cells. J. Exp. Med. 173:1291-1294.
    • (1991) J. Exp. Med. , vol.173 , pp. 1291-1294
    • Kodama, H.1    Nose, M.2    Niida, S.3    Yamasakii, A.4
  • 27
    • 0033611467 scopus 로고    scopus 로고
    • OPGL is a key regulator of osteoclastogenesis, lymphocyte development and lymph-node organogenesis
    • Kong, Y.Y., et al. 1999. OPGL is a key regulator of osteoclastogenesis, lymphocyte development and lymph-node organogenesis. Nature. 397:315-323.
    • (1999) Nature , vol.397 , pp. 315-323
    • Kong, Y.Y.1
  • 28
    • 0034681337 scopus 로고    scopus 로고
    • Tumor necrosis Factor-α induces differentiation of and bone resorption by osteoclasts
    • Azuma, Y., Kaji, K., Katogi, R., Takeshita, S., and Kudo, A. 2000. Tumor necrosis Factor-α induces differentiation of and bone resorption by osteoclasts. J. Biol. Chem. 275:4858-4864.
    • (2000) J. Biol. Chem. , vol.275 , pp. 4858-4864
    • Azuma, Y.1    Kaji, K.2    Katogi, R.3    Takeshita, S.4    Kudo, A.5
  • 29
    • 0032486428 scopus 로고    scopus 로고
    • Axonal swelling and degeneration in mice lacking the major proteolipid of myelin
    • Griffiths, I., et al. 1998. Axonal swelling and degeneration in mice lacking the major proteolipid of myelin. Science. 280:1610-1613.
    • (1998) Science , vol.280 , pp. 1610-1613
    • Griffiths, I.1
  • 30
    • 0018385436 scopus 로고
    • Immunochemical studies of myelin basic protein in shiverer mouse devoid of major dense line of myelin
    • Duponey, P., et al. 1979. Immunochemical studies of myelin basic protein in shiverer mouse devoid of major dense line of myelin. Neurosci. Lett. 12:113-118.
    • (1979) Neurosci. Lett. , vol.12 , pp. 113-118
    • Duponey, P.1
  • 31
    • 0034014082 scopus 로고    scopus 로고
    • Hypothalamic haemorrhage and thalamus degeneration in a case of Nasu-Hakola disease with hallucinatory symptoms and central hypothermia
    • Kobayashi, K., et al. 2000. Hypothalamic haemorrhage and thalamus degeneration in a case of Nasu-Hakola disease with hallucinatory symptoms and central hypothermia. Neuropathol. Appl. Neurobiol. 26:98-101.
    • (2000) Neuropathol. Appl. Neurobiol. , vol.26 , pp. 98-101
    • Kobayashi, K.1
  • 34
    • 0028140369 scopus 로고
    • Molecular and cellular mechanisms of general anesthesia
    • Franks, N.P., and Lieb, W.R. 1994. Molecular and cellular mechanisms of general anesthesia. Nature. 367:607-614.
    • (1994) Nature , vol.367 , pp. 607-614
    • Franks, N.P.1    Lieb, W.R.2
  • 35
    • 0030873997 scopus 로고    scopus 로고
    • Functional dynamics of GABAergic inhibition in the thalamus
    • Kim, U., Sanchez-Vives, M.V., and McCormick, D.A. 1997. Functional dynamics of GABAergic inhibition in the thalamus. Science. 278:130-134.
    • (1997) Science , vol.278 , pp. 130-134
    • Kim, U.1    Sanchez-Vives, M.V.2    McCormick, D.A.3
  • 36
    • 0035870801 scopus 로고    scopus 로고
    • Impact of prepulse characteristics on the detection of sensorimoror gating deficits in schizophrenia
    • Braff, D.L., et al. 2001. Impact of prepulse characteristics on the detection of sensorimoror gating deficits in schizophrenia. Schizopbr. Res. 49:171-178.
    • (2001) Schizopbr. Res. , vol.49 , pp. 171-178
    • Braff, D.L.1
  • 37
    • 0026540012 scopus 로고
    • Equipotentiality of thalamoamygdala and thalamo-cortico-amygdala circuits in auditory fear conditioning
    • Romanski, L.M., and LeDoux, J.E. 1992. Equipotentiality of thalamoamygdala and thalamo-cortico-amygdala circuits in auditory fear conditioning. J. Neurosci. 12:4501-4509.
    • (1992) J. Neurosci. , vol.12 , pp. 4501-4509
    • Romanski, L.M.1    LeDoux, J.E.2
  • 38
    • 0024460131 scopus 로고
    • Lateral geniculate spikes, muscle atonia and startle response elicited by auditory stimuli as a function of stimulus parameters and arousal state
    • Wu, M.F., Mallick, B.N., and Siegel, J.M. 1989. Lateral geniculate spikes, muscle atonia and startle response elicited by auditory stimuli as a function of stimulus parameters and arousal state. Brain Res. 499:7-17.
    • (1989) Brain Res. , vol.499 , pp. 7-17
    • Wu, M.F.1    Mallick, B.N.2    Siegel, J.M.3
  • 39
    • 0030849672 scopus 로고    scopus 로고
    • Regulation of prepulse inhibition by ventral pallidal projections
    • Kodsl, M.H., and Swerdlow, N.R. 1997. Regulation of prepulse inhibition by ventral pallidal projections. Brain Res. Bull. 43:219-228.
    • (1997) Brain Res. Bull. , vol.43 , pp. 219-228
    • Kodsl, M.H.1    Swerdlow, N.R.2
  • 40
    • 0028034202 scopus 로고
    • Thalamic abnormalities in schizophrenia visualized thorough magnetic resonance image averaging
    • Andreasen, N.C., et al. 1994. Thalamic abnormalities in schizophrenia visualized thorough magnetic resonance image averaging. Science. 266:294-298.
    • (1994) Science , vol.266 , pp. 294-298
    • Andreasen, N.C.1
  • 41
    • 0035836642 scopus 로고    scopus 로고
    • Genome-wide expression analysis reveals dysregulation of myelination-related genes in chronic schizophrenia
    • Hakak, Y., et al. 2001. Genome-wide expression analysis reveals dysregulation of myelination-related genes in chronic schizophrenia. Proc. Natl. Acad. Sci. USA. 98:4746-4751.
    • (2001) Proc. Natl. Acad. Sci. USA , vol.98 , pp. 4746-4751
    • Hakak, Y.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.