메뉴 건너뛰기




Volumn 22, Issue 1, 2001, Pages 40-59

Down syndrome: Advances in molecular biology and the neurosciences

Author keywords

Alzheimer's disease; Brain development; Chromosome 21; Cognitive impairment; Down syndrome; Gene expression; Neurobiology

Indexed keywords

DNA;

EID: 0034762806     PISSN: 0196206X     EISSN: None     Source Type: Journal    
DOI: 10.1097/00004703-200102000-00007     Document Type: Article
Times cited : (95)

References (274)
  • 5
  • 7
    • 0025668992 scopus 로고
    • Down syndrome children often have brain with maturation delay, retardation of growth, and cortical dysgenesis
    • (1990) Am J Med Genet Suppl , vol.7 , pp. 274-281
    • Wisniewski, K.1
  • 8
    • 0023751608 scopus 로고
    • Six weeks to twenty-one years old: A longitudinal study of children with Down's syndrome and their families
    • (1988) J Child Psychol Psychiatry , vol.29 , pp. 407-431
    • Carr, J.1
  • 9
    • 0025907673 scopus 로고
    • Parental origin of the extra chromosome in trisomy 21 as indicated by analysis of DNA polymorphisms
    • (1991) N Engl J Med , vol.324 , pp. 872-876
    • Antonarakis, S.1
  • 14
    • 85037387946 scopus 로고    scopus 로고
    • Online Mendelian Inheritance in Man (OMIM) Baltimore, MD, Center for Medical Genetics, Johns Hopkins University, and Bethesda, MD, National Center for Biotechnology Information, National Library of Medicine
    • (1999)
    • McKusick, V.1
  • 20
    • 0030880753 scopus 로고    scopus 로고
    • Molecular neurogenetics: The genome is settling the issue
    • (1997) JAMA , vol.278 , pp. 1282-1283
    • Rosenberg, R.1
  • 22
    • 0030779677 scopus 로고    scopus 로고
    • Cellular actions of β-amyloid precursor protein and its soluble and fibrillogenic derivatives
    • (1997) Physiol Rev , vol.77 , pp. 1081-1132
    • Mattson, M.1
  • 31
    • 0026589727 scopus 로고
    • Relationship of resistance to oxygen free radicals to CuZn-superoxide dismutase activity in transgenic, transfected, and trisomy cell
    • (1992) FASEB , vol.6 , pp. 903-910
    • Huang, T.1    Carlson, E.J.2    Leadon, S.A.3
  • 36
    • 0026673153 scopus 로고
    • S-100β and insulin-like growth factor-II differentially regulate growth of developing serotonin and dopamine neurons in vitro
    • (1992) J Neurosci Res , vol.33 , pp. 248-256
    • Liu, J.1    Lauder, J.2
  • 43
    • 0024093449 scopus 로고
    • Glutamate neurotoxicity and diseases of the nervous system
    • (1988) Neuron , vol.1 , pp. 623-634
    • Choi, D.W.1
  • 50
    • 0027223325 scopus 로고
    • Quantitative localization of AMPA/kainate and kainate glutamate receptor subunit immunoreactivity in neurochemically identified subpopulations of neurons in the prefrontal cortex of the macaque monkey
    • (1993) J Neurosci , vol.13 , pp. 2982-2992
    • Vickers, J.C.1    Huntley, G.W.2    Edwards, A.M.3
  • 51
    • 10144224910 scopus 로고    scopus 로고
    • Two new members of the murine Sim gene family are transcriptional repressors and show different expression patterns during mouse embryogenesis
    • (1996) Mol Cell Biol , vol.16 , pp. 5865-5875
    • Ema, M.1    Morita, M.2    Ikawa, V.3
  • 52
    • 0026314893 scopus 로고
    • The Drosophila single-minded gene encodes a helix-loop-helix protein that acts as a master regulator of CNS midline development
    • (1991) Cell , vol.67 , pp. 1157-1167
    • Nambu, J.1    Lewis, J.2    Wharton, K.3
  • 55
    • 0028787577 scopus 로고
    • Physical mapping of the holoprosencephaly critical region in 21q22.3, exclusion of SIM2 as a candidate gene for holoprosencephaly, and mapping of SIM2 to a region of chromosome 21 important for Down syndrome
    • (1995) Am J Hum Genet , vol.57 , pp. 1074-1079
    • Muenke, M.1    Bone, L.2    Mitchell, H.3
  • 57
    • 10144260033 scopus 로고    scopus 로고
    • A human homologue of Drosophila minibrain (MNB) is expressed in the neuronal regions affected in Down syndrome and maps to the critical region
    • (1996) Hum Mol Genet , vol.5 , pp. 1305-1310
    • Guimera, J.1    Casas, C.2    Pucharcos, C.3
  • 58
    • 0030915187 scopus 로고    scopus 로고
    • Functional screening of 2 Mb of human chromosome 21q22.2 in transgenic mice implicates minibrain in learning defects associated with Down syndrome
    • (1997) Nat Genet , vol.16 , pp. 28-36
    • Smith, D.1    Stevens, M.2    Sudanagunta, S.3
  • 61
    • 0025817602 scopus 로고
    • The cystatins: Protein inhibitors of cysteine proteinases
    • (1991) FEBS , vol.285 , pp. 213-219
    • Turk, V.1    Bode, W.2
  • 62
    • 0027880157 scopus 로고
    • Mouse cDNAs encoding a trifunctional protein of de novo purine synthesis and a related single-domain glycinamide ribonucleotide synthetase
    • (1993) Gene , vol.137 , pp. 195-202
    • Kan, J.1    Jannatipour, M.2    Taylor, S.3
  • 66
    • 0030668788 scopus 로고    scopus 로고
    • The human GARS-AIRS-GART gene encodes two proteins which are differentially expressed during human brain development and temporally overexpressed in cerebellum of individuals with Down syndrome
    • (1997) Hum Mol Genet , vol.6 , pp. 2043-2050
    • Brodsky, G.1    Barnes, T.2    Bleskan, J.3
  • 70
    • 0031964775 scopus 로고    scopus 로고
    • DSCAM: A novel member of the immunoglobulin superfamily maps in a Down syndrome region and is involved in the development of the nervous system
    • (1998) Hum Mol Genet , vol.7 , pp. 227-237
    • Yamakawa, K.1    Huo, Y.2    Haendel, M.3
  • 72
    • 0025580781 scopus 로고
    • The consequences of chromosome imbalance
    • (1990) , vol.7 , pp. 31-37
    • Epstein, C.J.1
  • 88
    • 0015528841 scopus 로고
    • Structural abnormalities of the cerebral cortex in human chromosomal aberrations: A golgi study
    • (1972) Brain Res , vol.44 , pp. 625-629
    • Marin-Padilla, M.1
  • 92
  • 97
    • 0029417023 scopus 로고
    • Apoptosis and increased generation of reactive oxygen species in Down's syndrome neurons in vitro
    • (1995) Nature , vol.378 , pp. 776-779
    • Buscigilo, J.1    Yankner, B.2
  • 99
    • 0032007328 scopus 로고    scopus 로고
    • Modification of ion homeostasis by lipid peroxidation: Roles in neuronal degeneration and adaptive plasticity
    • (1998) Trends Neurosci , vol.20 , pp. 53-57
    • Mattson, M.1
  • 104
    • 0029984062 scopus 로고    scopus 로고
    • Antioxidant and redox regulation of gene transcription
    • (1996) FASEB , vol.10 , pp. 709-720
    • Sen, C.1    Packer, L.2
  • 107
  • 114
  • 121
    • 0028832656 scopus 로고
    • Development and plasticity of cortical processing architectures
    • (1995) Science , vol.270 , pp. 758-764
    • Singer, W.1
  • 122
    • 0029963657 scopus 로고    scopus 로고
    • Synaptic activity and the construction of cortical circuits
    • (1996) Science , vol.274 , pp. 1133-1138
    • Katz, L.1    Shatz, C.2
  • 123
    • 0031887455 scopus 로고    scopus 로고
    • Drugs that increase intelligence? Application for childhood cognitive impairment
    • (1998) MRDD Res Rev , vol.4 , pp. 36-49
    • Capone, G.1
  • 126
    • 0017851933 scopus 로고
    • Etiologic differences in patterns of psycholinguistic development in children of IQ 30 to 60
    • (1978) Am J Ment Defic , vol.82 , pp. 549-553
    • Rohr, A.1    Burr, D.2
  • 133
    • 0019808893 scopus 로고
    • Lateralisation of speech stimuli in young Down's syndrome children
    • (1981) Cortex , vol.17 , pp. 241-248
    • Hartley, X.1
  • 134
    • 0017701209 scopus 로고
    • Dichotic verbal processing in Down's syndrome children having qualitatively different speech and language skills
    • (1977) Am J Ment Defic , vol.82 , pp. 44-53
    • Sommers, R.1    Starkey, K.2
  • 137
    • 0027503198 scopus 로고
    • Cerebral specialization for speech perception and movement organization in adults with Down's syndrome
    • (1993) Cortex , vol.29 , pp. 103-113
    • Elliott, D.1    Weeks, D.J.2
  • 144
    • 0015896891 scopus 로고
    • The development of the pathologic changes of Alzheimer's disease in patients with Down's syndrome
    • (1973) Am J Pathol , vol.73 , pp. 457-476
    • Burger, P.C.1    Vogel, S.2
  • 145
    • 0028948391 scopus 로고
    • Age-related distribution of neuropathologic changes in the cerebral cortex of patients with Down's syndrome
    • (1995) Arch Neurol , vol.52 , pp. 379-391
    • Hof, P.1    Bouras, C.2    Perl, D.3
  • 147
    • 0025863710 scopus 로고
    • The amygdala in Down's syndrome and familial Alzheimer's disease: Four clinicopathologic case reports
    • (1991) Biol Psychiatry , vol.30 , pp. 92-106
    • Murphy, G.1    Ellis, W.2
  • 148
    • 17544399111 scopus 로고    scopus 로고
    • Early amyloid deposition in the medial temporal lobe of young Down syndrome patients: A regional quantitative analysis
    • (1998) Exp Neurol , vol.150 , pp. 296-304
    • Leverenz, J.1    Raskind, M.2
  • 156
  • 157
  • 159
    • 0032927816 scopus 로고    scopus 로고
    • MRI volumes of the hippocampus and amygdala in adults with Down's syndrome with and without dementia
    • (1999) , vol.156 , pp. 564-668
    • Aylward, E.1    Li, Q.2    Honeycott, N.3
  • 163
    • 0028181782 scopus 로고
    • Selective increase in lipid peroxidation in the inferior temporal cortex in Alzheimer's disease
    • (1994) Brain Res , vol.645 , pp. 338-342
    • Palmer, A.1    Burns, M.2
  • 165
    • 0029073455 scopus 로고
    • Elevated thiobarbituric acid-reactive substances and antioxidant enzyme activity in the brain in Alzheimer's disease
    • (1995) Neurology , vol.45 , pp. 1594-1601
    • Lovell, M.1    Ehmann, W.2    Butler, S.3
  • 168
    • 0028807137 scopus 로고
    • Brain regional correspondence between Alzheimer's disease pathology and biomarkers of protein oxidation
    • (1995) , vol.65 , pp. 2146-2156
    • Hensley, K.1    Hall, N.2    Subramaniam, R.3
  • 172
  • 175
    • 0030966546 scopus 로고    scopus 로고
    • Impairment of glucose and glutamate transport and induction of mitochondrial oxidative stress and dysfunction in synaptosomes by amyloid β-peptide: Role of the lipid peroxidation product 4-Hydroxynonenal
    • (1997) J Neurochem , vol.69 , pp. 273-284
    • Keller, J.1    Pangn, Z.2    Geddes, J.3
  • 176
    • 0031020993 scopus 로고    scopus 로고
    • Amyloid β-peptide impairs glucose transport in hippocampal and cortical neurons: Involvement of membrane lipid peroxidation
    • (1997) J Neurosci , vol.17 , pp. 1046-1054
    • Mark, R.1    Pang, Z.2    Geddes, J.3
  • 179
    • 0026584524 scopus 로고
    • Does impairment of energy metabolism result in excitotoxic neuronal death in neurodegenerative illnesses
    • (1992) Ann Neurol , vol.31 , pp. 119-130
    • Beal, M.F.1
  • 180
    • 0029125857 scopus 로고
    • Aging, energy, and oxidative stress in neurodegenerative disease
    • (1995) Ann Neurol , vol.38 , pp. 357-366
    • Beal, M.F.1
  • 182
    • 0345104375 scopus 로고    scopus 로고
    • Evidence against the involvement of reactive oxygen species in the pathogenesis of neuronal death in Down's syndrome and Alzheimer's disease
    • (1996) Life Sci , vol.59 , pp. 537-544
    • Hayn, M.1    Kremer, K.2    Ingewald, N.3
  • 185
    • 0032541109 scopus 로고    scopus 로고
    • Expression of DNA excision-repair-cross-complementing proteins p80 and p89 in brain of patients with Down syndrome and Alzheimer's disease
    • (1998) Neurosci Lett , vol.251 , pp. 45-48
    • Hermon, M.1    Cairns, N.2    Egly, J.3
  • 188
    • 0031898770 scopus 로고    scopus 로고
    • The role of the amyloid protein precursor (APP) in Alzheimer's disease: Does the normal function of APP explain the topography of neurodegeneration?
    • (1998) Neurochem Res , vol.23 , pp. 795-806
    • Small, D.1
  • 190
    • 0033535553 scopus 로고    scopus 로고
    • Two transmembrane aspartates in presenilin-1 required for presenilin endoproteolysis and gamma-secretase activity
    • (1999) Nature , vol.398 , pp. 513-517
    • Wolfe, M.1    Xia, W.2    Ostasezewski, B.3
  • 194
    • 0033595757 scopus 로고    scopus 로고
    • Enzymes point the way to potential Alzheimer's therapies
    • (1999) Science , vol.286 , pp. 650-651
    • Pennisi, E.1
  • 195
    • 0024299370 scopus 로고
    • Apolipoprotein E: Cholesterol transport protein with expanding role in cell biology
    • (1988) Science , vol.240 , pp. 622-630
    • Mahley, R.1
  • 223
    • 0027154265 scopus 로고
    • Developmental changes of S-100 protein and glial fibrillary acidic protein in the brain in Down syndrome
    • (1993) Exp Neurol , vol.120 , pp. 170-176
    • Mito, T.1    Becker, L.2
  • 230
    • 0026553710 scopus 로고
    • Detection of interleukin-6 and alpha-2-macroglobulin immunoreactivity in cortex and hippocampus of Alzheimer's disease patients
    • (1992) Lab Invest , vol.66 , pp. 223-230
    • Strauss, S.1    Bauer, J.2    Ganter, U.3
  • 231
    • 0027354484 scopus 로고
    • Microglia and cytokines in neurological disease, with special reference to AIDS and Alzheimer's disease
    • (1993) Glia , vol.7 , pp. 75-83
    • Dickson, D.1    Lee, S.2    Mattiace, L.3
  • 234
    • 0000074498 scopus 로고
    • The time course of pathological events in Down's syndrome with particular reference to the involvement of microglial cells and deposits of β/A4
    • (1992) Neurodegeneration , vol.1 , pp. 201-215
    • Mann, D.1    Yuonis, N.2    Jones, D.3
  • 236
  • 252
    • 0030854138 scopus 로고    scopus 로고
    • Animal models in the study of the biological function of genes on human chromosome 21 and their role in the pathophysiology of Down syndrome
    • (1997) Hum Mol Genet , vol.6 , pp. 1713-1727
    • Kola, I.1    Hertzog, P.2
  • 265
  • 266
    • 0031828775 scopus 로고    scopus 로고
    • Pharmacologic approaches to cognitive deficits in Alzheimer's disease
    • (1998) J Clin Psychiatry , vol.59 , Issue.SUPPL. 9 , pp. 22-27
    • Peskind, E.1
  • 268
    • 0030035582 scopus 로고    scopus 로고
    • Searching for drugs that combat Alzheimer's
    • (1996) Science , vol.273 , pp. 50-53
    • Marx, J.1
  • 274
    • 0002876021 scopus 로고    scopus 로고
    • CNS agents and new indications in development
    • (1999) Econ Neurosci , vol.1 , pp. 43-81


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.