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Volumn , Issue , 2005, Pages 319-335

Angelman syndrome

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EID: 85056932128     PISSN: None     EISSN: None     Source Type: Book    
DOI: None     Document Type: Chapter
Times cited : (4)

References (48)
  • 1
    • 84995191751 scopus 로고
    • “Puppet” children: A report on three cases
    • Angelman H. “Puppet” children: a report on three cases. Dev Med Child Neurol 1965; 7: 681-688.
    • (1965) Dev Med Child Neurol , vol.7 , pp. 681-688
    • Angelman, H.1
  • 3
    • 0032837374 scopus 로고    scopus 로고
    • Towards a molecular understanding of Prader-Willi and Angelman syndromes
    • Mann MR, Bartolomei MS. Towards a molecular understanding of Prader-Willi and Angelman syndromes. Hum Mol Genet 1999; 8(10): 1867-1873.
    • (1999) Hum Mol Genet , vol.8 , Issue.10 , pp. 1867-1873
    • Mann, M.R.1    Bartolomei, M.S.2
  • 4
    • 0037328861 scopus 로고    scopus 로고
    • Angelman syndrome: A review of the clinical and genetic aspects
    • Clayton-Smith J, Laan L. Angelman syndrome: a review of the clinical and genetic aspects. J Med Genet 2003; 40(2): 87-95.
    • (2003) J Med Genet , vol.40 , Issue.2 , pp. 87-95
    • Clayton-Smith, J.1    Laan, L.2
  • 6
    • 0029648026 scopus 로고
    • Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: Estimated prevalence rate in a Danish county
    • Petersen MB, Brondum-Nielsen K, Hansen LK, Wulff K. Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: estimated prevalence rate in a Danish county. Am J Med Genet 1995; 60(3): 261-262.
    • (1995) Am J Med Genet , vol.60 , Issue.3 , pp. 261-262
    • Petersen, M.B.1    Brondum-Nielsen, K.2    Hansen, L.K.3    Wulff, K.4
  • 7
    • 0032998029 scopus 로고    scopus 로고
    • Prevalence of Prader-Willi and Angelman syndromes among mentally retarded boys in Brazil
    • Vercesi AM, Carvalho MR, Aguiar MJ, Pena SD. Prevalence of Prader-Willi and Angelman syndromes among mentally retarded boys in Brazil. J Med Genet 1999; 36(6): 498.
    • (1999) J Med Genet , vol.36 , Issue.6 , pp. 498
    • Vercesi, A.M.1    Carvalho, M.R.2    Aguiar, M.J.3    Pena, S.D.4
  • 8
    • 0036591554 scopus 로고    scopus 로고
    • Angelman syndrome methylation screening of 15q11-q13 in institutionalized individuals with severe mental retardation
    • Aquino NH, Bastos E, Fonseca LC, Llerena JC Jr. Angelman syndrome methylation screening of 15q11-q13 in institutionalized individuals with severe mental retardation. Genet Test 2002; 6(2): 129-131.
    • (2002) Genet Test , vol.6 , Issue.2 , pp. 129-131
    • Aquino, N.H.1    Bastos, E.2    Fonseca, L.C.3    Llerena, J.C.4
  • 10
    • 0031770939 scopus 로고    scopus 로고
    • Angelman syndrome: Are the estimates too low?
    • Buckley RH, Dinno N, Weber P. Angelman syndrome: are the estimates too low? Am J Med Genet 1998; 80(4): 385-390.
    • (1998) Am J Med Genet , vol.80 , Issue.4 , pp. 385-390
    • Buckley, R.H.1    Dinno, N.2    Weber, P.3
  • 12
    • 0026068622 scopus 로고
    • Diagnosis of Angelman syndrome in infants
    • Fryburg JS, Breg WR, Lindgren V. Diagnosis of Angelman syndrome in infants. Am J Med Genet 1991; 38(1): 58-64.
    • (1991) Am J Med Genet , vol.38 , Issue.1 , pp. 58-64
    • Fryburg, J.S.1    Breg, W.R.2    Lindgren, V.3
  • 14
    • 0023925498 scopus 로고
    • The EEG in early diagnosis of the Angelman (happy puppet) syndrome
    • Boyd SG, Harden A, Patton MA. The EEG in early diagnosis of the Angelman (happy puppet) syndrome. Eur J Pediatr 1988; 147(5): 508-513.
    • (1988) Eur J Pediatr , vol.147 , Issue.5 , pp. 508-513
    • Boyd, S.G.1    Harden, A.2    Patton, M.A.3
  • 16
    • 0031012849 scopus 로고    scopus 로고
    • UBE3A/E6-AP mutations cause Angelman syndrome [published erratum appears in Nat Genet 1997; 15(4): 411]
    • Kishino T, Lalande M, Wagstaff J. UBE3A/E6-AP mutations cause Angelman syndrome [published erratum appears in Nat Genet 1997; 15(4): 411]. Nat Genet 1997; 15(1): 70-73.
    • (1997) Nat Genet , vol.15 , Issue.1 , pp. 70-73
    • Kishino, T.1    Lalande, M.2    Wagstaff, J.3
  • 18
    • 0031228039 scopus 로고    scopus 로고
    • The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain [letter]
    • Rougeulle C, Glatt H, Lalande M. The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain [letter]. Nat Genet 1997; 17(1): 14-15.
    • (1997) Nat Genet , vol.17 , Issue.1 , pp. 14-15
    • Rougeulle, C.1    Glatt, H.2    Lalande, M.3
  • 20
    • 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(23): 2687-2700.
    • (2001) Hum Mol Genet , vol.10 , Issue.23 , pp. 2687-2700
    • Runte, M.1    Huttenhofer, A.2    Gross, S.3    Kiefmann, M.4    Horsthemke, B.5    Buiting, K.6
  • 21
    • 0036846536 scopus 로고    scopus 로고
    • The imprinting mechanism of the Prader-Willi/Angelman regional control center
    • Perk J, Makedonski K, Lande L, Cedar H, Razin A, Shemer R. The imprinting mechanism of the Prader-Willi/Angelman regional control center. EMBO J 2002; 21(21): 5807-5814.
    • (2002) EMBO J , vol.21 , Issue.21 , pp. 5807-5814
    • Perk, J.1    Makedonski, K.2    Lande, L.3    Cedar, H.4    Razin, A.5    Shemer, R.6
  • 22
    • 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: 153-175.
    • (2001) Annu Rev Genomics Hum Genet , vol.2 , pp. 153-175
    • Nicholls, R.D.1    Knepper, J.L.2
  • 23
    • 85047695990 scopus 로고    scopus 로고
    • Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons
    • Pujana MA, Nadal M, Guitart M, Armengol L, Gratacos M, Estivill X. Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons. Eur J Hum Genet 2002; 10(1): 26-35.
    • (2002) Eur J Hum Genet , vol.10 , Issue.1 , pp. 26-35
    • Pujana, M.A.1    Nadal, M.2    Guitart, M.3    Armengol, L.4    Gratacos, M.5    Estivill, X.6
  • 24
    • 0035154373 scopus 로고    scopus 로고
    • Additional complexity on human chromosome 15q: Identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26
    • Pujana MA, Nadal M, Gratacos M, Peral B, Csiszar K, Gonzalez-Sarmiento R, Sumoy L, Estivill X. Additional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26. Genome Res 2001; 11(1): 98-111.
    • (2001) Genome Res , vol.11 , Issue.1 , pp. 98-111
    • Pujana, M.A.1    Nadal, M.2    Gratacos, M.3    Peral, B.4    Csiszar, K.5    Gonzalez-Sarmiento, R.6    Sumoy, L.7    Estivill, X.8
  • 26
    • 0032971379 scopus 로고    scopus 로고
    • Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13)
    • Christian SL, Fantes JA, Mewborn SK, Huang B, Ledbetter DH. Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13). Hum Mol Genet 1999; 8(6): 1025-1037.
    • (1999) Hum Mol Genet , vol.8 , Issue.6 , pp. 1025-1037
    • Christian, S.L.1    Fantes, J.A.2    Mewborn, S.K.3    Huang, B.4    Ledbetter, D.H.5
  • 29
    • 0037371674 scopus 로고    scopus 로고
    • Epimutations in Prader-Willi and Angelman syndromes: A molecular study of 136 patients with an imprinting defect
    • Buiting K, Gross S, Lich C, Gillessen-Kaesbach G, El-Maarri O, Horsthemke B. Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect. Am J Hum Genet 2003; 72(3): 571-577.
    • (2003) Am J Hum Genet , vol.72 , Issue.3 , pp. 571-577
    • Buiting, K.1    Gross, S.2    Lich, C.3    Gillessen-Kaesbach, G.4    El-Maarri, O.5    Horsthemke, B.6
  • 32
    • 0035371487 scopus 로고    scopus 로고
    • Angelman syndrome: Mimicking conditions and phenotypes
    • Williams CA, Lossie A, Driscoll D. Angelman syndrome: mimicking conditions and phenotypes. Am J Med Genet 2001; 101(1): 59-64.
    • (2001) Am J Med Genet , vol.101 , Issue.1 , pp. 59-64
    • Williams, C.A.1    Lossie, A.2    Driscoll, D.3
  • 33
    • 0032574634 scopus 로고    scopus 로고
    • Genetic counseling in Angelman syndrome: The challenges of multiple causes [see comments]
    • Stalker HJ, Williams CA. Genetic counseling in Angelman syndrome: the challenges of multiple causes [see comments]. Am J Med Genet 1998; 77(1): 54-59.
    • (1998) Am J Med Genet , vol.77 , Issue.1 , pp. 54-59
    • Stalker, H.J.1    Williams, C.A.2
  • 34
    • 0031569842 scopus 로고    scopus 로고
    • The human E6-AP gene (UBE3A) encodes three potential protein isoforms generated by differential splicing
    • Yamamoto Y, Huibregtse JM, Howley PM. The human E6-AP gene (UBE3A) encodes three potential protein isoforms generated by differential splicing. Genomics 1997; 41(2): 263-266.
    • (1997) Genomics , vol.41 , Issue.2 , pp. 263-266
    • Yamamoto, Y.1    Huibregtse, J.M.2    Howley, P.M.3
  • 35
    • 0031939597 scopus 로고    scopus 로고
    • Genomic organization of the UBE3A/E6-AP gene and related pseudogenes
    • Kishino T, Wagstaff J. Genomic organization of the UBE3A/E6-AP gene and related pseudogenes. Genomics 1998; 47(1): 101-107.
    • (1998) Genomics , vol.47 , Issue.1 , pp. 101-107
    • Kishino, T.1    Wagstaff, J.2
  • 36
    • 0027358723 scopus 로고
    • The HPV-16 E6 and E6-AP complex functions as a ubiquitinprotein ligase in the ubiquitination of p53
    • Scheffner M, Huibregtse JM, Vierstra RD, Howley PM. The HPV-16 E6 and E6-AP complex functions as a ubiquitinprotein ligase in the ubiquitination of p53. Cell 1993; 75(3): 495-505.
    • (1993) Cell , vol.75 , Issue.3 , pp. 495-505
    • Scheffner, M.1    Huibregtse, J.M.2    Vierstra, R.D.3    Howley, P.M.4
  • 37
    • 0028907874 scopus 로고
    • A family of proteins structurally and functionally related to the E6-AP ubiquitin-protein ligase
    • Huibregtse JM, Scheffner M, Beaudenon S, Howley PM. A family of proteins structurally and functionally related to the E6-AP ubiquitin-protein ligase. Proc Natl Acad Sci USA 1995; 92(7): 2563-2567.
    • (1995) Proc Natl Acad Sci USA , vol.92 , Issue.7 , pp. 2563-2567
    • Huibregtse, J.M.1    Scheffner, M.2    Beaudenon, S.3    Howley, P.M.4
  • 38
    • 0028898424 scopus 로고
    • Protein ubiquitination involving an E1-E2-E3 enzyme ubiquitin thioester cascade
    • Scheffner M, Nuber U, Huibregtse JM. Protein ubiquitination involving an E1-E2-E3 enzyme ubiquitin thioester cascade. Nature 1995; 373(6509): 81-83.
    • (1995) Nature , vol.373 , Issue.6509 , pp. 81-83
    • Scheffner, M.1    Nuber, U.2    Huibregtse, J.M.3
  • 39
    • 0028018268 scopus 로고
    • The ubiquitin-proteasome proteolytic pathway
    • Ciechanover A. The ubiquitin-proteasome proteolytic pathway. Cell 1994; 79(1): 13-21.
    • (1994) Cell , vol.79 , Issue.1 , pp. 13-21
    • Ciechanover, A.1
  • 40
    • 0037249354 scopus 로고    scopus 로고
    • Conformational flexibility underlies ubiquitin ligation mediated by the WWP1 HECT domain E3 ligase
    • Verdecia MA, Joazeiro CA, Wells NJ, Ferrer JL, Bowman ME, Hunter T, Noel JP. Conformational flexibility underlies ubiquitin ligation mediated by the WWP1 HECT domain E3 ligase. Mol Cell 2003; 11(1): 249-259.
    • (2003) Mol Cell , vol.11 , Issue.1 , pp. 249-259
    • Verdecia, M.A.1    Joazeiro, C.A.2    Wells, N.J.3    Ferrer, J.L.4    Bowman, M.E.5    Hunter, T.6    Noel, J.P.7
  • 42
    • 0037123605 scopus 로고    scopus 로고
    • Emerging roles of ubiquitin in transcription regulation
    • Conaway RC, Brower CS, Conaway JW. Emerging roles of ubiquitin in transcription regulation. Science 2002; 296(5571): 1254-1258.
    • (2002) Science , vol.296 , Issue.5571 , pp. 1254-1258
    • Conaway, R.C.1    Brower, C.S.2    Conaway, J.W.3
  • 43
    • 0036197031 scopus 로고    scopus 로고
    • Neurobehavioral and electroencephalographic abnormalities in Ube3a maternal-deficient mice
    • Miura K, Kishino T, Li E, Webber H, Dikkes P, Holmes GL, Wagstaff J. Neurobehavioral and electroencephalographic abnormalities in Ube3a maternal-deficient mice. Neurobiol Dis 2002; 9(2): 149-159.
    • (2002) Neurobiol Dis , vol.9 , Issue.2 , pp. 149-159
    • Miura, K.1    Kishino, T.2    Li, E.3    Webber, H.4    Dikkes, P.5    Holmes, G.L.6    Wagstaff, J.7
  • 44
    • 0033578418 scopus 로고    scopus 로고
    • Regulation of the Src family tyrosine kinase Blk through E6AP-mediated ubiquitination
    • Oda H, Kumar S, Howley PM. Regulation of the Src family tyrosine kinase Blk through E6AP-mediated ubiquitination. Proc Natl Acad Sci USA 1999; 96(17): 9557-9562.
    • (1999) Proc Natl Acad Sci USA , vol.96 , Issue.17 , pp. 9557-9562
    • Oda, H.1    Kumar, S.2    Howley, P.M.3
  • 45
    • 0033603339 scopus 로고    scopus 로고
    • Identification of HHR23A as a substrate for E6-associated protein-mediated ubiquitination
    • Kumar S, Talis AL, Howley PM. Identification of HHR23A as a substrate for E6-associated protein-mediated ubiquitination. J Biol Chem 1999; 274(26): 18785-18792.
    • (1999) J Biol Chem , vol.274 , Issue.26 , pp. 18785-18792
    • Kumar, S.1    Talis, A.L.2    Howley, P.M.3
  • 46
    • 0032192481 scopus 로고    scopus 로고
    • Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation [see comments]
    • Jiang YH, Armstrong D, Albrecht U, Atkins CM, Noebels JL, Eichele G, Sweatt JD, Beaudet AL. Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation [see comments]. Neuron 1998; 21(4): 799-811.
    • (1998) Neuron , vol.21 , Issue.4 , pp. 799-811
    • Jiang, Y.H.1    Armstrong, D.2    Albrecht, U.3    Atkins, C.M.4    Noebels, J.L.5    Eichele, G.6    Sweatt, J.D.7    Beaudet, A.L.8
  • 47
    • 0037179795 scopus 로고    scopus 로고
    • New roles for ubiquitin in the assembly and function of neuronal circuits
    • Murphey RK, Godenschwege TA. New roles for ubiquitin in the assembly and function of neuronal circuits. Neuron 2002; 36(1): 5-8.
    • (2002) Neuron , vol.36 , Issue.1 , pp. 5-8
    • Murphey, R.K.1    Godenschwege, T.A.2
  • 48
    • 0036832462 scopus 로고    scopus 로고
    • Ubiquitin and the synapse
    • Hegde AN, DiAntonio A. Ubiquitin and the synapse. Nat Rev Neurosci 2002; 3(11): 854-861.
    • (2002) Nat Rev Neurosci , vol.3 , Issue.11 , pp. 854-861
    • Hegde, A.N.1    DiAntonio, A.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.