메뉴 건너뛰기




Volumn 40, Issue 8, 2003, Pages 568-574

Microarray analysis of gene/transcript expression in Prader-Willi syndrome: Deletion versus UPD

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; ATP10C GENE; CHROMOSOME 15Q; CLINICAL ARTICLE; DNA MICROARRAY; GABRA5 GENE; GABRB3 GENE; GENE; GENE DELETION; GENE EXPRESSION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MALE; PRADER WILLI SYNDROME; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; UBE3A GENE;

EID: 0042828957     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.40.8.568     Document Type: Article
Times cited : (52)

References (33)
  • 1
    • 0033852316 scopus 로고    scopus 로고
    • Prader-Willi syndrome: Clinical and genetic findings
    • Butler MG, Thompson T. Prader-Willi syndrome: clinical and genetic findings. Endocrinology 2000;10:35-165.
    • (2000) Endocrinology , vol.10 , pp. 35-165
    • Butler, M.G.1    Thompson, T.2
  • 2
    • 0031015938 scopus 로고    scopus 로고
    • Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15
    • Cassidy SB, Forsythe M, Heeger S, Nicholls, RD, Schork N, Benn P, Schwartz S. Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15. Am J Med Genet 1997;68:433-40.
    • (1997) Am J Med Genet , vol.68 , pp. 433-440
    • Cassidy, S.B.1    Forsythe, M.2    Heeger, S.3    Nicholls, R.D.4    Schork, N.5    Benn, P.6    Schwartz, S.7
  • 3
    • 0035777024 scopus 로고    scopus 로고
    • Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes
    • Nicholls RD, Knepper JL. Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes. Annu Rev Genomics Hum Genet 2001;2:153-75.
    • (2001) Annu Rev Genomics Hum Genet , vol.2 , pp. 153-175
    • Nicholls, R.D.1    Knepper, J.L.2
  • 5
    • 0042776150 scopus 로고    scopus 로고
    • Evolutionary transposition of 4 unique genes mediated by flanking duplicons in the Prader-Willi/Angelman syndromes deletion region
    • Chai JH, Locke DP, Eichler EE, Nicholls RD. Evolutionary transposition of 4 unique genes mediated by flanking duplicons in the Prader-Willi/Angelman syndromes deletion region. Am J Hum Genet 2002;71:A395.
    • (2002) Am J Hum Genet , vol.71
    • Chai, J.H.1    Locke, D.P.2    Eichler, E.E.3    Nicholls, R.D.4
  • 6
    • 0035039122 scopus 로고    scopus 로고
    • A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome
    • Meguro M, Kashiwagi A, Mitsuya K, Nakao M, Kondo I, Saitoh S, Oshimura M. A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome. Nat Genet 2001;28:19-20.
    • (2001) Nat Genet , vol.28 , pp. 19-20
    • Meguro, M.1    Kashiwagi, A.2    Mitsuya, K.3    Nakao, M.4    Kondo, I.5    Saitoh, S.6    Oshimura, M.7
  • 7
    • 0032858912 scopus 로고    scopus 로고
    • Incriminating gene suspects, Prader-Willi style
    • Nicholls RD. Incriminating gene suspects, Prader-Willi style. Nat Genet 1999;23:132-4.
    • (1999) Nat Genet , vol.23 , pp. 132-134
    • Nicholls, R.D.1
  • 8
    • 0035864916 scopus 로고    scopus 로고
    • Large-scale evaluation of imprinting status in the Prader-Willi syndrome region: An imprinted direct repeat cluster resembling small nucleolar RNA genes
    • Meguro M, Mitsuya K, Nomura N, Kohda M, Kashiwagi A, Nishigaki R, Yoshioka H, Nakao M, Oishi M, Oshimura M. Large-scale evaluation of imprinting status in the Prader-Willi syndrome region: an imprinted direct repeat cluster resembling small nucleolar RNA genes. Hum Mol Genet 2001;10:383-94.
    • (2001) Hum Mol Genet , vol.10 , pp. 383-394
    • Meguro, M.1    Mitsuya, K.2    Nomura, N.3    Kohda, M.4    Kashiwagi, A.5    Nishigaki, R.6    Yoshioka, H.7    Nakao, M.8    Oishi, M.9    Oshimura, M.10
  • 9
    • 0033942565 scopus 로고    scopus 로고
    • Identification of novel imprinted transcripts in the Prader-Willi syndrome and Angelman syndrome deletion region: Further evidence for regional imprinting control
    • Lee S, Wevrick R. Identification of novel imprinted transcripts in the Prader-Willi syndrome and Angelman syndrome deletion region: further evidence for regional imprinting control. Am J Hum Genet 2000;66:848-58.
    • (2000) Am J Hum Genet , vol.66 , pp. 848-858
    • Lee, S.1    Wevrick, R.2
  • 10
    • 0035509699 scopus 로고    scopus 로고
    • The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA For UBE3A
    • Runte M, Huttenhofer A, Gross S, Kiefmann M, Horsthemke B, Buiting K. The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA For UBE3A. Hum Mol Genet 2001;10:2687-700.
    • (2001) Hum Mol Genet , vol.10 , pp. 2687-2700
    • Runte, M.1    Huttenhofer, A.2    Gross, S.3    Kiefmann, M.4    Horsthemke, B.5    Buiting, K.6
  • 11
    • 0036724342 scopus 로고    scopus 로고
    • Evidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in Prader-Willi syndrome
    • Gallagher RC, Pils B, Albalwi M, Francke U. Evidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in Prader-Willi syndrome. Am J Hum Genet 2002;71:669-78.
    • (2002) Am J Hum Genet , vol.71 , pp. 669-678
    • Gallagher, R.C.1    Pils, B.2    Albalwi, M.3    Francke, U.4
  • 13
    • 0042242603 scopus 로고    scopus 로고
    • Are jigsaw puzzle skills 'spared' in persons with Prader-Willi syndrome?
    • Dykens EM. Are jigsaw puzzle skills 'spared' in persons with Prader-Willi syndrome? J Child Psychol Psychiatry 2002;43:343-52.
    • (2002) J Child Psychol Psychiatry , vol.43 , pp. 343-352
    • Dykens, E.M.1
  • 14
    • 0032858626 scopus 로고    scopus 로고
    • Maladaptive behavior differences in Prader-Willi syndrome due to paternal deletion versus maternal uniparental disomy
    • Dykens EM, Cassidy SB, King BH. Maladaptive behavior differences in Prader-Willi syndrome due to paternal deletion versus maternal uniparental disomy. Am J Ment Retard 1999;104:67-77.
    • (1999) Am J Ment Retard , vol.104 , pp. 67-77
    • Dykens, E.M.1    Cassidy, S.B.2    King, B.H.3
  • 15
    • 0036900895 scopus 로고    scopus 로고
    • Fundamentals of experimental design for cDNA microarrays
    • Churchill GA. Fundamentals of experimental design for cDNA microarrays. Nat Genet 2002;32(suppl):490-5.
    • (2002) Nat Genet , vol.32 , Issue.SUPPL. , pp. 490-495
    • Churchill, G.A.1
  • 16
    • 0015240778 scopus 로고
    • 3H-GABA in nerve terminals of rat cerebral cortex by electron microscopic autoradiography
    • 3H-GABA in nerve terminals of rat cerebral cortex by electron microscopic autoradiography. Nature 1971;229:629-30.
    • (1971) Nature , vol.229 , pp. 629-630
    • Bloom, F.1    Iverson, L.2
  • 17
    • 0030990363 scopus 로고    scopus 로고
    • Heterogeneity in the neuropeptide Y-containing neurons of the rat arcuate nucleus: GABAergic and non-GABAergic subpopulations
    • Horvath TL, Bechmann I, Naftolin F, Kalra SP, Leranth C. Heterogeneity in the neuropeptide Y-containing neurons of the rat arcuate nucleus: GABAergic and non-GABAergic subpopulations. Brain Res 1997;756:283-6.
    • (1997) Brain Res , vol.756 , pp. 283-286
    • Horvath, T.L.1    Bechmann, I.2    Naftolin, F.3    Kalra, S.P.4    Leranth, C.5
  • 18
    • 0033038418 scopus 로고    scopus 로고
    • Interacting appetite-regulating pathways in the hypothalamic regulation of body weight
    • Kalra SP, Dube MG, Pu S, Xu B, Horvath TL, Kalra PS. Interacting appetite-regulating pathways in the hypothalamic regulation of body weight. Endocr Rev 1999;20:68-100.
    • (1999) Endocr Rev , vol.20 , pp. 68-100
    • Kalra, S.P.1    Dube, M.G.2    Pu, S.3    Xu, B.4    Horvath, T.L.5    Kalra, P.S.6
  • 20
    • 0032080131 scopus 로고    scopus 로고
    • A E Bennett Research Award. Toward a neurodevelopmental model of obsessive-compulsive disorder
    • Rosenberg DR, Keshavan MS. A E Bennett Research Award. Toward a neurodevelopmental model of obsessive-compulsive disorder. Biol Psychiatry 1998;43:623-40.
    • (1998) Biol Psychiatry , vol.43 , pp. 623-640
    • Rosenberg, D.R.1    Keshavan, M.S.2
  • 21
    • 0035863344 scopus 로고    scopus 로고
    • Activation of metabotropic glutamate receptors inhibits GABAergic transmission in the rat subfornical organ
    • Lee HS, Chong W, Han SK, Lee MH, Ryu PD. Activation of metabotropic glutamate receptors inhibits GABAergic transmission in the rat subfornical organ. Neuroscience 2001;102:401-11.
    • (2001) Neuroscience , vol.102 , pp. 401-411
    • Lee, H.S.1    Chong, W.2    Han, S.K.3    Lee, M.H.4    Ryu, P.D.5
  • 22
    • 0034508401 scopus 로고    scopus 로고
    • GABA GABA(A) receptor antagonists alter developing cone photoreceptor development in neonatal rabbit retina
    • Huang B, Mitchell CK, Redburn-Johnson DA. GABA and GABA(A) receptor antagonists alter developing cone photoreceptor development in neonatal rabbit retina. Vis Neurosci 2000;17:925-35.
    • (2000) Vis Neurosci , vol.17 , pp. 925-935
    • Huang, B.1    Mitchell, C.K.2    Redburn-Johnson, D.A.3
  • 23
    • 0029056356 scopus 로고
    • GABAergic stimulation switches from enhancing to repressing BDNF expression in rat hippocampal neurons during maturation in vitro
    • Berninger B, Marty S, Zafra F, da Penha Berzaghi M, Thoenen H, Lindholm D. GABAergic stimulation switches from enhancing to repressing BDNF expression in rat hippocampal neurons during maturation in vitro. Development 1995;121:2327-35.
    • (1995) Development , vol.121 , pp. 2327-2335
    • Berninger, B.1    Marty, S.2    Zafra, F.3    Da Penha Berzaghi, M.4    Thoenen, H.5    Lindholm, D.6
  • 24
    • 0035313382 scopus 로고    scopus 로고
    • GABA(A) receptor subtypes: Dissecting their pharmacological functions
    • Rudolph U, Crestani F, Mohler H. GABA(A) receptor subtypes: dissecting their pharmacological functions. Trends Pharmacol Sci 2001;22:188-94.
    • (2001) Trends Pharmacol Sci , vol.22 , pp. 188-194
    • Rudolph, U.1    Crestani, F.2    Mohler, H.3
  • 26
    • 0027399484 scopus 로고
    • Many spinal cord cells transiently express low molecular weight forms of glutamic acid decarboxylase during embryonic development
    • Behar T, Schaffiner A, Laing P, Hudson L, Komoly S, Barker J. Many spinal cord cells transiently express low molecular weight forms of glutamic acid decarboxylase during embryonic development. Brain Res Dev Brain Res 1993;72:203-18.
    • (1993) Brain Res Dev Brain Res , vol.72 , pp. 203-218
    • Behar, T.1    Schaffiner, A.2    Laing, P.3    Hudson, L.4    Komoly, S.5    Barker, J.6
  • 27
    • 0025728092 scopus 로고
    • Neurotransmitters as developmental signals
    • Meier E, Hertz L, Schousbe A. Neurotransmitters as developmental signals. Neurochem Int 1991;19:1-15.
    • (1991) Neurochem Int , vol.19 , pp. 1-15
    • Meier, E.1    Hertz, L.2    Schousbe, A.3
  • 28
    • 0028170032 scopus 로고
    • A receptor subtypes during postnatal development: An immunohistochemical study
    • A receptor subtypes during postnatal development: an immunohistochemical study. J Neurosci 1994;14:5302-24.
    • (1994) J Neurosci , vol.14 , pp. 5302-5324
    • Fritschy, J.1    Paysan, J.2    Enna, A.3    Mohler, H.4
  • 29
    • 0026615268 scopus 로고
    • A receptor subunit mRNAs in the rat brain. III. Embryonic and postnatal development
    • A receptor subunit mRNAs in the rat brain. III. Embryonic and postnatal development. J Neurosci 1992;12:4151-72.
    • (1992) J Neurosci , vol.12 , pp. 4151-4172
    • Laurie, D.1    Wisden, W.2    Seeburg, P.3
  • 30
    • 0017646315 scopus 로고    scopus 로고
    • Prader-Willi syndrome. Variable severity and recurrence risk
    • Clarren SK, Smith DW. Prader-Willi syndrome. Variable severity and recurrence risk. Am J Dis Child 1997;131:798-800.
    • (1997) Am J Dis Child , vol.131 , pp. 798-800
    • Clarren, S.K.1    Smith, D.W.2
  • 31
    • 0033103405 scopus 로고    scopus 로고
    • Special relationship of gamma-aminobutyric acid to the ventromedial nucleus of the hypothalamus during embryonic development
    • Tobet S, Henderson R, Whiting P, Sieghart W. Special relationship of gamma-aminobutyric acid to the ventromedial nucleus of the hypothalamus during embryonic development. J Comp Neurol 1999;405:88-98.
    • (1999) J Comp Neurol , vol.405 , pp. 88-98
    • Tobet, S.1    Henderson, R.2    Whiting, P.3    Sieghart, W.4
  • 32
    • 0026612363 scopus 로고
    • A receptor subunit mRNAs in the rat brain. I. Telencephalon, diencephalon, mesencephalon
    • A receptor subunit mRNAs in the rat brain. I. Telencephalon, diencephalon, mesencephalon. J Neurosci 1992;12:1040-62.
    • (1992) J Neurosci , vol.12 , pp. 1040-1062
    • Wisden, W.1    Laurie, D.2    Monyer, H.3    Seeburg, P.4
  • 33
    • 0037098954 scopus 로고    scopus 로고
    • Allele-specific expression analysis by RNA-FISH demonstrates preferential maternal expression of UBE3A and imprint maintenance within 15q11-q13 duplications
    • Herzing LB, Cook EH Jr, Ledbetter DH. Allele-specific expression analysis by RNA-FISH demonstrates preferential maternal expression of UBE3A and imprint maintenance within 15q11-q13 duplications. Hum Mol Genet 2002;11:1707-18.
    • (2002) Hum Mol Genet , vol.11 , pp. 1707-1718
    • Herzing, L.B.1    Cook E.H., Jr.2    Ledbetter, D.H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.