메뉴 건너뛰기




Volumn 5, Issue 1, 2014, Pages

Genetic analysis of GABRB3 as a candidate gene of autism spectrum disorders

Author keywords

Autism spectrum disorders; Case control association; GABRB3; Genetics; Rare variants

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR BETA3; GENOMIC DNA;

EID: 84902947108     PISSN: None     EISSN: 20402392     Source Type: Journal    
DOI: 10.1186/2040-2392-5-36     Document Type: Article
Times cited : (47)

References (68)
  • 1
    • 84904049899 scopus 로고
    • Washington DC: American Psychiatric Association
    • American Psychiatric Association, Diagnostic and Statistical Manual of Mental Disorders Washington DC: American Psychiatric Association 4 1994
    • (1994) Diagnostic and Statistical Manual of Mental Disorders , vol.4
  • 2
    • 34147168331 scopus 로고    scopus 로고
    • The lifetime distribution of the incremental societal costs of autism
    • DOI 10.1001/archpedi.161.4.343
    • The lifetime distribution of the incremental societal costs of autism. Ganz ML, Arch Pediatr Adolesc Med 2007 161 343 349 (Pubitemid 46556364)
    • (2007) Archives of Pediatrics and Adolescent Medicine , vol.161 , Issue.4 , pp. 343-349
    • Ganz, M.L.1
  • 3
    • 0141427915 scopus 로고    scopus 로고
    • Epidemiological surveys of autism and other pervasive developmental disorders: An update
    • DOI 10.1023/A:1025054610557
    • Epidemiological surveys of autism and other pervasive developmental disorders: an update. Fombonne E, J Autism Dev Disord 2003 33 365 382 (Pubitemid 37127933)
    • (2003) Journal of Autism and Developmental Disorders , vol.33 , Issue.4 , pp. 365-382
    • Fombonne, E.1
  • 6
    • 31144444162 scopus 로고    scopus 로고
    • Epidemiology of autistic disorder and other pervasive developmental disorders
    • Epidemiology of autistic disorder and other pervasive developmental disorders. Fombonne E, J Clin Psychiatry 2005 66 Suppl 10 3 8 (Pubitemid 43133208)
    • (2005) Journal of Clinical Psychiatry , vol.66 , Issue.SUPPL. 10 , pp. 3-8
    • Fombonne, E.1
  • 7
    • 77951206469 scopus 로고    scopus 로고
    • The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13
    • The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13. Hogart A, Wu D, LaSalle JM, Schanen NC, Neurobiol Dis 2010 38 181 191
    • (2010) Neurobiol Dis , vol.38 , pp. 181-191
    • Hogart, A.1    Wu, D.2    Lasalle, J.M.3    Schanen, N.C.4
  • 8
    • 0037317655 scopus 로고    scopus 로고
    • Genetics of childhood disorders: XLVII. Autism, part 6: Duplication and inherited susceptibility of chromosome 15q11-q13 genes in autism
    • Genetics of childhood disorders: XLVII. Autism, part 6: duplication and inherited susceptibility of chromosome 15q11-q13 genes in autism. Sutcliffe JS, Nurmi EL, Lombroso PJ, J Am Acad Child Adolesc Psychiatry 2003 42 253 256
    • (2003) J Am Acad Child Adolesc Psychiatry , vol.42 , pp. 253-256
    • Sutcliffe, J.S.1    Nurmi, E.L.2    Lombroso, P.J.3
  • 9
    • 58149237890 scopus 로고    scopus 로고
    • The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)
    • The inv dup (15) or idic (15) syndrome (Tetrasomy 15q). Battaglia A, Orphanet J Rare Dis 2008 3 30
    • (2008) Orphanet J Rare Dis , vol.3 , pp. 30
    • Battaglia, A.1
  • 11
    • 42349095075 scopus 로고    scopus 로고
    • Advances in autism genetics: On the threshold of a new neurobiology
    • DOI 10.1038/nrg2346, PII NRG2346
    • Advances in autism genetics: on the threshold of a new neurobiology. Abrahams BS, Geschwind DH, Nat Rev Genet 2008 9 341 355 (Pubitemid 351556064)
    • (2008) Nature Reviews Genetics , vol.9 , Issue.5 , pp. 341-355
    • Abrahams, B.S.1    Geschwind, D.H.2
  • 12
    • 80052672692 scopus 로고    scopus 로고
    • Alterations of GABAergic signaling in autism spectrum disorders
    • Alterations of GABAergic signaling in autism spectrum disorders. Pizzarelli R, Cherubini E, Neural Plast 2011 2011 297153
    • (2011) Neural Plast , vol.2011 , pp. 297153
    • Pizzarelli, R.1    Cherubini, E.2
  • 13
    • 84906935430 scopus 로고    scopus 로고
    • Downregulation of GABA receptor protein subunits alpha6, beta2, delta, epsilon, gamma2, theta, and rho2 in superior frontal cortex of subjects with autism
    • [Epub ahead of print] PMID:24668190
    • Downregulation of GABA receptor protein subunits alpha6, beta2, delta, epsilon, gamma2, theta, and rho2 in superior frontal cortex of subjects with autism. Fatemi SH, Reutiman TJ, Folsom TD, Rustan OG, Rooney RJ, Thuras PD, J Autism Dev Disord 2014 [Epub ahead of print] PMID:24668190
    • (2014) J Autism Dev Disord
    • Fatemi, S.H.1    Reutiman, T.J.2    Folsom, T.D.3    Rustan, O.G.4    Rooney, R.J.5    Thuras, P.D.6
  • 15
    • 84860597923 scopus 로고    scopus 로고
    • Increased copy number for methylated maternal 15q duplications leads to changes in gene and protein expression in human cortical samples
    • Increased copy number for methylated maternal 15q duplications leads to changes in gene and protein expression in human cortical samples. Scoles HA, Urraca N, Chadwick SW, Reiter LT, Lasalle JM, Mol Autism 2011 2 19
    • (2011) Mol Autism , vol.2 , pp. 19
    • Scoles, H.A.1    Urraca, N.2    Chadwick, S.W.3    Reiter, L.T.4    Lasalle, J.M.5
  • 16
    • 80052990416 scopus 로고    scopus 로고
    • Metabotropic glutamate receptor 5 upregulation in children with autism is associated with underexpression of both Fragile X mental retardation protein and GABAA receptor beta 3 in adults with autism
    • Metabotropic glutamate receptor 5 upregulation in children with autism is associated with underexpression of both Fragile X mental retardation protein and GABAA receptor beta 3 in adults with autism. Fatemi SH, Folsom TD, Kneeland RE, Liesch SB, Anat Rec (Hoboken) 2011 294 1635 1645
    • (2011) Anat Rec (Hoboken) , vol.294 , pp. 1635-1645
    • Fatemi, S.H.1    Folsom, T.D.2    Kneeland, R.E.3    Liesch, S.B.4
  • 17
    • 77955883112 scopus 로고    scopus 로고
    • MRNA and protein levels for GABAAalpha4, alpha5, beta1 and GABABR1 receptors are altered in brains from subjects with autism
    • mRNA and protein levels for GABAAalpha4, alpha5, beta1 and GABABR1 receptors are altered in brains from subjects with autism. Fatemi SH, Reutiman TJ, Folsom TD, Rooney RJ, Patel DH, Thuras PD, J Autism Dev Disord 2010 40 743 750
    • (2010) J Autism Dev Disord , vol.40 , pp. 743-750
    • Fatemi, S.H.1    Reutiman, T.J.2    Folsom, T.D.3    Rooney, R.J.4    Patel, D.H.5    Thuras, P.D.6
  • 18
    • 0037108019 scopus 로고    scopus 로고
    • Glutamic acid decarboxylase 65 and 67 kDa proteins are reduced in autistic parietal and cerebellar cortices
    • Glutamic acid decarboxylase 65 and 67 kDa proteins are reduced in autistic parietal and cerebellar cortices. Fatemi SH, Halt AR, Stary JM, Kanodia R, Schulz SC, Realmuto GR, Biol Psychiatry 2002 52 805 810
    • (2002) Biol Psychiatry , vol.52 , pp. 805-810
    • Fatemi, S.H.1    Halt, A.R.2    Stary, J.M.3    Kanodia, R.4    Schulz, S.C.5    Realmuto, G.R.6
  • 19
    • 34247631067 scopus 로고    scopus 로고
    • Decreased GAD67 mRNA levels in cerebellar Purkinje cells in autism: Pathophysiological implications
    • DOI 10.1007/s00401-006-0176-3
    • Decreased GAD67 mRNA levels in cerebellar Purkinje cells in autism: pathophysiological implications. Yip J, Soghomonian JJ, Blatt GJ, Acta Neuropathol 2007 113 559 568 (Pubitemid 46672602)
    • (2007) Acta Neuropathologica , vol.113 , Issue.5 , pp. 559-568
    • Yip, J.1    Soghomonian, J.-J.2    Blatt, G.J.3
  • 20
    • 63449095687 scopus 로고    scopus 로고
    • Decreased GAD65 mRNA levels in select subpopulations of neurons in the cerebellar dentate nuclei in autism: An in situ hybridization study
    • Decreased GAD65 mRNA levels in select subpopulations of neurons in the cerebellar dentate nuclei in autism: an in situ hybridization study. Yip J, Soghomonian JJ, Blatt GJ, Autism Res 2009 2 50 59
    • (2009) Autism Res , vol.2 , pp. 50-59
    • Yip, J.1    Soghomonian, J.J.2    Blatt, G.J.3
  • 24
    • 33847748974 scopus 로고    scopus 로고
    • Association of GABRB3 polymorphisms with autism spectrum disorders in Korean trios
    • Association of GABRB3 polymorphisms with autism spectrum disorders in Korean trios. Kim SA, Kim JH, Park M, Cho IH, Yoo HJ, Neuropsychobiology 2006 54 160 165
    • (2006) Neuropsychobiology , vol.54 , pp. 160-165
    • Kim, S.A.1    Kim, J.H.2    Park, M.3    Cho, I.H.4    Yoo, H.J.5
  • 25
    • 66549100493 scopus 로고    scopus 로고
    • Microsatellite marker in gamma-aminobutyric acid - A receptor beta 3 subunit gene and autism spectrum disorders in Korean trios
    • Microsatellite marker in gamma-aminobutyric acid-a receptor beta 3 subunit gene and autism spectrum disorders in Korean trios. Yoo HK, Chung S, Hong JP, Kim BN, Cho SC, Yonsei Med J 2009 50 304 306
    • (2009) Yonsei Med J , vol.50 , pp. 304-306
    • Yoo, H.K.1    Chung, S.2    Hong, J.P.3    Kim, B.N.4    Cho, S.C.5
  • 26
    • 0033569931 scopus 로고    scopus 로고
    • Serotonin transporter (5-HTT) and γ-aminobutyric acid receptor subunit β3 (GABRB3) gene polymorphisms are not associated with autism in the IMGSA families
    • DOI 10.1002/(SICI)1096-8628(19991015)88:5<492::AID-AJMG11>3.0.CO;2- X
    • Serotonin transporter (5-HTT) and gamma-aminobutyric acid receptor subunit beta3 (GABRB3) gene polymorphisms are not associated with autism in the IMGSA families. The International Molecular Genetic Study of Autism Consortium. Maestrini E, Lai C, Marlow A, Matthews N, Wallace S, Bailey A, Cook EH, Weeks DE, Monaco AP, Am J Med Genet 1999 88 492 496 (Pubitemid 29485075)
    • (1999) American Journal of Medical Genetics - Neuropsychiatric Genetics , vol.88 , Issue.5 , pp. 492-496
    • Maestrini, E.1    Lai, C.2    Marlow, A.3    Matthews, N.4    Wallace, S.5    Bailey, A.6    Cook, E.H.7    Weeks, D.E.8    Monaco, A.P.9
  • 34
    • 84889767824 scopus 로고    scopus 로고
    • Genetic variation in GABRB3 is associated with Asperger syndrome and multiple endophenotypes relevant to autism
    • Genetic variation in GABRB3 is associated with Asperger syndrome and multiple endophenotypes relevant to autism. Warrier V, Baron-Cohen S, Chakrabarti B, Mol Autism 2013 4 48
    • (2013) Mol Autism , vol.4 , pp. 48
    • Warrier, V.1    Baron-Cohen, S.2    Chakrabarti, B.3
  • 36
    • 84894380091 scopus 로고    scopus 로고
    • Garcia Coto M, Pallia RC, Argibay PF: Evidence for interaction between markers in GABA(A) receptor subunit genes in an Argentinean autism spectrum disorder population
    • Garcia Coto M, Pallia RC, Argibay PF: Evidence for interaction between markers in GABA(A) receptor subunit genes in an Argentinean autism spectrum disorder population. Sesarini CV, Costa L, Naymark M, Granana N, Cajal AR, Autism Res 2014 7 162 166
    • (2014) Autism Res , vol.7 , pp. 162-166
    • Sesarini, C.V.1    Costa, L.2    Naymark, M.3    Granana, N.4    Cajal, A.R.5
  • 38
    • 84904049900 scopus 로고    scopus 로고
    • Arlington, VA: American Psychiatric Association
    • American Psychiatric Association, Diagnostic and Statistical Manual of Mental Disorders Arlington, VA: American Psychiatric Association 5 2013
    • (2013) Diagnostic and Statistical Manual of Mental Disorders , vol.5
  • 39
    • 84865722695 scopus 로고    scopus 로고
    • Variation in the autism candidate gene GABRB3 modulates tactile sensitivity in typically developing children
    • Variation in the autism candidate gene GABRB3 modulates tactile sensitivity in typically developing children. Tavassoli T, Auyeung B, Murphy LC, Baron-Cohen S, Chakrabarti B, Mol Autism 2012 3 6
    • (2012) Mol Autism , vol.3 , pp. 6
    • Tavassoli, T.1    Auyeung, B.2    Murphy, L.C.3    Baron-Cohen, S.4    Chakrabarti, B.5
  • 44
    • 33645215798 scopus 로고    scopus 로고
    • GABRB3 gene deficient mice: A potential model of autism spectrum disorder
    • GABRB3 gene deficient mice: a potential model of autism spectrum disorder. DeLorey TM, Int Rev Neurobiol 2005 71 359 382
    • (2005) Int Rev Neurobiol , vol.71 , pp. 359-382
    • Delorey, T.M.1
  • 45
    • 38049013294 scopus 로고    scopus 로고
    • Gabrb3 gene deficient mice exhibit impaired social and exploratory behaviors, deficits in non-selective attention and hypoplasia of cerebellar vermal lobules: A potential model of autism spectrum disorder
    • Gabrb3 gene deficient mice exhibit impaired social and exploratory behaviors, deficits in non-selective attention and hypoplasia of cerebellar vermal lobules: a potential model of autism spectrum disorder. DeLorey TM, Sahbaie P, Hashemi E, Homanics GE, Clark JD, Behav Brain Res 2008 187 207 220
    • (2008) Behav Brain Res , vol.187 , pp. 207-220
    • Delorey, T.M.1    Sahbaie, P.2    Hashemi, E.3    Homanics, G.E.4    Clark, J.D.5
  • 47
    • 33747876660 scopus 로고    scopus 로고
    • A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity
    • DOI 10.1093/hmg/ddl174
    • A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity. Urak L, Feucht M, Fathi N, Hornik K, Fuchs K, Hum Mol Genet 2006 15 2533 2541 (Pubitemid 44288705)
    • (2006) Human Molecular Genetics , vol.15 , Issue.16 , pp. 2533-2541
    • Urak, L.1    Feucht, M.2    Fathi, N.3    Hornik, K.4    Fuchs, K.5
  • 50
    • 84869098390 scopus 로고    scopus 로고
    • Psychometric properties of the Chinese version of the social responsiveness scale
    • Psychometric properties of the Chinese version of the social responsiveness scale. Gau SS, Liu LT, Wu YY, Chiu YN, Tsai WC, Res Autism Spect Dis 2013 7 349 360
    • (2013) Res Autism Spect Dis , vol.7 , pp. 349-360
    • Gau, S.S.1    Liu, L.T.2    Wu, Y.Y.3    Chiu, Y.N.4    Tsai, W.C.5
  • 51
    • 84866149264 scopus 로고    scopus 로고
    • Psychometric properties of the Chinese version of the Autism Spectrum Quotient (AQ)
    • doi:210.1016/j.ridd.2012.1008.1005. Epub 2012 Sep 1015
    • Psychometric properties of the Chinese version of the Autism Spectrum Quotient (AQ). Lau WY, Gau SS, Chiu YN, Wu YY, Chou WJ, Liu SK, Chou MC, Res Dev Disabil 2013 34 294 305 doi:210.1016/j.ridd.2012.1008.1005. Epub 2012 Sep 1015
    • (2013) Res Dev Disabil , vol.34 , pp. 294-305
    • Lau, W.Y.1    Gau, S.S.2    Chiu, Y.N.3    Wu, Y.Y.4    Chou, W.J.5    Liu, S.K.6    Chou, M.C.7
  • 52
    • 79551576736 scopus 로고    scopus 로고
    • Sex difference in the rates and co-occurring conditions of psychiatric symptoms in incoming college students in Taiwan
    • Sex difference in the rates and co-occurring conditions of psychiatric symptoms in incoming college students in Taiwan. Chien YL, Gau SS, Gadow KD, Compr Psychiatry 2011 52 195 207
    • (2011) Compr Psychiatry , vol.52 , pp. 195-207
    • Chien, Y.L.1    Gau, S.S.2    Gadow, K.D.3
  • 53
    • 0032421570 scopus 로고    scopus 로고
    • The Mini-International Neuropsychiatric Interview (M.I.N.I.): The development and validation of a structured diagnostic psychiatric interview for DSM-IV and ICD-10
    • The Mini-International Neuropsychiatric Interview (M.I.N.I.): the development and validation of a structured diagnostic psychiatric interview for DSM-IV and ICD-10. Sheehan DV, Lecrubier Y, Sheehan KH, Amorim P, Janavs J, Weiller E, Hergueta T, Baker R, Dunbar GC, J Clin Psychiatry 1998 59 Suppl 20 22 33 quiz 34-57 (Pubitemid 29001829)
    • (1998) Journal of Clinical Psychiatry , vol.59 , Issue.SUPPL. 20 , pp. 22-33
    • Sheehan, D.V.1    Lecrubier, Y.2    Sheehan, K.H.3    Amorim, P.4    Janavs, J.5    Weiller, E.6    Hergueta, T.7    Baker, R.8    Dunbar, G.C.9
  • 54
    • 13444269543 scopus 로고    scopus 로고
    • Haploview: Analysis and visualization of LD and haplotype maps
    • DOI 10.1093/bioinformatics/bth457
    • Haploview: analysis and visualization of LD and haplotype maps. Barrett JC, Fry B, Maller J, Daly MJ, Bioinformatics 2005 21 263 265 (Pubitemid 40202029)
    • (2005) Bioinformatics , vol.21 , Issue.2 , pp. 263-265
    • Barrett, J.C.1    Fry, B.2    Maller, J.3    Daly, M.J.4
  • 55
    • 0002907949 scopus 로고
    • The interaction of selection and linkage. I. General considerations; Heterotic models
    • The interaction of selection and linkage. I. General considerations; heterotic models. Lewontin RC, Genetics 1964 49 49 67
    • (1964) Genetics , vol.49 , pp. 49-67
    • Lewontin, R.C.1
  • 57
    • 18944381751 scopus 로고    scopus 로고
    • SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci
    • DOI 10.1038/sj.cr.7290272
    • SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci. Shi YY, He L, Cell Res 2005 15 97 98 (Pubitemid 41653949)
    • (2005) Cell Research , vol.15 , Issue.2 , pp. 97-98
    • Shi, Y.Y.1    He, L.2
  • 59
    • 34247170891 scopus 로고    scopus 로고
    • A receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders
    • DOI 10.1093/hmg/ddm014
    • 15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders. Hogart A, Nagarajan RP, Patzel KA, Yasui DH, Lasalle JM, Hum Mol Genet 2007 16 691 703 (Pubitemid 46585668)
    • (2007) Human Molecular Genetics , vol.16 , Issue.6 , pp. 691-703
    • Hogart, A.1    Nagarajan, R.P.2    Patzel, K.A.3    Yasui, D.H.4    LaSalle, J.M.5
  • 65
    • 84903714734 scopus 로고    scopus 로고
    • GABAA receptor subunit mutations and genetic epilepsies
    • Bethesda (MD): National Center for Biotechnology Information (US) Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV 4
    • GABAA receptor subunit mutations and genetic epilepsies. Macdonald RL, Kang JQ, Gallagher MJ, Jasper's Basic Mechanisms of the Epilepsies Bethesda (MD): National Center for Biotechnology Information (US), Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV, 4 2012
    • (2012) Jasper's Basic Mechanisms of the Epilepsies
    • Macdonald, R.L.1    Kang, J.Q.2    Gallagher, M.J.3
  • 68
    • 84864301246 scopus 로고    scopus 로고
    • GABRB3, epilepsy, and neurodevelopment
    • Bethesda (MD): National Center for Biotechnology Information (US) Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV 4
    • GABRB3, epilepsy, and neurodevelopment. Tanaka M, DeLorey TM, Delgado-Escueta A, Olsen RW, Jasper's Basic Mechanisms of the Epilepsies Bethesda (MD): National Center for Biotechnology Information (US), Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV, 4 2012
    • (2012) Jasper's Basic Mechanisms of the Epilepsies
    • Tanaka, M.1    Delorey, T.M.2    Delgado-Escueta, A.3    Olsen, R.W.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.