메뉴 건너뛰기




Volumn 24, Issue 1, 2014, Pages 1-9

A proof-of-concept study: Exon-level expression profiling and alternative splicing in autism using lymphoblastoid cell lines

Author keywords

Alternative splicing; Autism; Differential expression; Exon array; Lymphoblastoid cell lines

Indexed keywords

BIOLOGICAL MARKER; MESSENGER RNA;

EID: 84891855778     PISSN: 09558829     EISSN: 14735873     Source Type: Journal    
DOI: 10.1097/YPG.0b013e3283635526     Document Type: Article
Times cited : (12)

References (54)
  • 1
    • 33645473037 scopus 로고    scopus 로고
    • Splicing mutation associated with Rett syndrome and an experimental approach for genetic diagnosis
    • Abuhatzira L, Makedonski K, Galil YP, Gak E, Ben Zeev B, Razin A, Shemer R (2005). Splicing mutation associated with Rett syndrome and an experimental approach for genetic diagnosis. Hum Genet 118:91-98
    • (2005) Hum Genet , vol.118 , pp. 91-98
    • Abuhatzira, L.1    Makedonski, K.2    Galil, Y.P.3    Gak, E.4    Ben Zeev, B.5    Razin, A.6    Shemer, R.7
  • 4
    • 0003766095 scopus 로고    scopus 로고
    • Applied Biosystems
    • Applied Biosystems (1997). User Bulletin #2: ABI PRISM 7700 Sequence Detection System. Available at: http://www3.appliedbiosystems.com/cms/ groups/mcb-support/documents/generaldocuments/cms-040980.pdf
    • (1997) User Bulletin #2: ABI PRISM 7700 Sequence Detection System
  • 6
    • 33646087435 scopus 로고    scopus 로고
    • Localization of neuregulin-1alpha (heregulin-alpha) and one of its receptors, ErbB-4 tyrosine kinase, in developing and adult human brain
    • Bernstein HG, Lendeckel U, Bertram I, Bukowska A, Kanakis D, Dobrowolny H, et al. (2006). Localization of neuregulin-1alpha (heregulin-alpha) and one of its receptors, ErbB-4 tyrosine kinase, in developing and adult human brain. Brain Res Bull 69:546-559
    • (2006) Brain Res Bull , vol.69 , pp. 546-559
    • Bernstein, H.G.1    Lendeckel, U.2    Bertram, I.3    Bukowska, A.4    Kanakis, D.5    Dobrowolny, H.6
  • 7
    • 1242325944 scopus 로고    scopus 로고
    • Alternative pre-mRNA splicing and neuronal function
    • Black DL, Grabowski PJ (2003). Alternative pre-mRNA splicing and neuronal function. Prog Mol Subcell Biol 31:187-216
    • (2003) Prog Mol Subcell Biol , vol.31 , pp. 187-216
    • Black, D.L.1    Grabowski, P.J.2
  • 8
    • 33745899048 scopus 로고    scopus 로고
    • Alternative splicing: New insights from global analyses
    • DOI 10.1016/j.cell.2006.06.023, PII S0092867406008178
    • Blencowe BJ (2006). Alternative splicing: new insights from global analyses. Cell 126:37-47 (Pubitemid 44040990)
    • (2006) Cell , vol.126 , Issue.1 , pp. 37-47
    • Blencowe, B.J.1
  • 9
    • 33645223310 scopus 로고    scopus 로고
    • Characterization of a neuralspecific splicing form of the human neuregulin 3 gene involved in oligodendrocyte survival
    • Carteron C, Ferrer-Montiel A, Cabedo H (2006). Characterization of a neuralspecific splicing form of the human neuregulin 3 gene involved in oligodendrocyte survival. J Cell Sci 119:898-909
    • (2006) J Cell Sci , vol.119 , pp. 898-909
    • Carteron, C.1    Ferrer-Montiel, A.2    Cabedo, H.3
  • 11
    • 0036135523 scopus 로고    scopus 로고
    • Protein crosslinking, tissue transglutaminase, alternative splicing and neurodegeneration
    • DOI 10.1016/S0197-0186(01)00062-6, PII S0197018601000626
    • Citron BA, Suo Z, SantaCruz K, Davies PJ, Qin F, Festoff BW (2002). Protein crosslinking, tissue transglutaminase, alternative splicing and neurodegeneration. Neurochem Int 40:69-78 (Pubitemid 34003559)
    • (2002) Neurochemistry International , vol.40 , Issue.1 , pp. 69-78
    • Citron, B.A.1    Suo, Z.2    SantaCruz, K.3    Davies, P.J.A.4    Qin, F.5    Festoff, B.W.6
  • 13
    • 47849098789 scopus 로고    scopus 로고
    • Altered splicing in exon 8 of the DNA replication factor CIZ1 affects subnuclear distribution and is associated with Alzheimer's disease
    • Dahmcke CM, Buchmann-Moller S, Jensen NA, Mitchelmore C (2008). Altered splicing in exon 8 of the DNA replication factor CIZ1 affects subnuclear distribution and is associated with Alzheimer's disease. Mol Cell Neurosci 38:589-594
    • (2008) Mol Cell Neurosci , vol.38 , pp. 589-594
    • Dahmcke, C.M.1    Buchmann-Moller, S.2    Jensen, N.A.3    Mitchelmore, C.4
  • 14
    • 33745657499 scopus 로고    scopus 로고
    • Comparison of 12 reference genes for normalization of gene expression levels in Epstein-Barr virus-transformed lymphoblastoid cell lines and fibroblasts
    • De Brouwer AP, van Bokhoven H, Kremer H (2006). Comparison of 12 reference genes for normalization of gene expression levels in Epstein-Barr virus-transformed lymphoblastoid cell lines and fibroblasts. Mol Diagn Ther 10:197-204 (Pubitemid 43974596)
    • (2006) Molecular Diagnosis and Therapy , vol.10 , Issue.3 , pp. 197-204
    • De Brouwer, A.P.M.1    Van Bokhoven, H.2    Kremer, H.3
  • 16
    • 33745888072 scopus 로고    scopus 로고
    • Epstein-Barr virus integrates frequently into chromosome 4q, 2q, 1q and 7q of Burkitt's lymphoma cell line (Raji)
    • DOI 10.1016/j.jviromet.2006.05.013, PII S0166093406001753
    • Gao J, Luo X, Tang K, Li X, Li G (2006). Epstein-Barr virus integrates frequently into chromosome 4q, 2q, 1q and 7q of Burkitt's lymphoma cell line (Raji). J Virol Methods 136:193-199 (Pubitemid 44051593)
    • (2006) Journal of Virological Methods , vol.136 , Issue.1-2 , pp. 193-199
    • Gao, J.1    Luo, X.2    Tang, K.3    Li, X.4    Li, G.5
  • 18
    • 34250192963 scopus 로고    scopus 로고
    • Alternative ion channel splicing in mesial temporal lobe epilepsy and Alzheimer's disease
    • Heinzen EL, Yoon W, Weale ME, Sen A, Wood NW, Burke JR, et al. (2007). Alternative ion channel splicing in mesial temporal lobe epilepsy and Alzheimer's disease. Genome Biol 8:R32.1-R32.18
    • (2007) Genome Biol , vol.8
    • Heinzen, E.L.1    Yoon, W.2    Weale, M.E.3    Sen, A.4    Wood, N.W.5    Burke, J.R.6
  • 19
    • 33644877169 scopus 로고    scopus 로고
    • HOLLYWOOD: A comparative relational database of alternative splicing
    • Holste D, Huo G, Tung V, Burge CB (2006). HOLLYWOOD: a comparative relational database of alternative splicing. Nucleic Acids Res 34: D56-D62
    • (2006) Nucleic Acids Res , vol.34
    • Holste, D.1    Huo, G.2    Tung, V.3    Burge, C.B.4
  • 20
    • 34547589578 scopus 로고    scopus 로고
    • DAVID Bioinformatics Resources: Expanded annotation database and novel algorithms to better extract biology from large gene lists
    • Huang da W, Sherman BT, Tan Q, Kir J, Liu D, Bryant D, et al. (2007). DAVID Bioinformatics Resources: expanded annotation database and novel algorithms to better extract biology from large gene lists. Nucleic Acids Res 35:W169-W175
    • (2007) Nucleic Acids Res , vol.35
    • Huang Da, W.1    Sherman, B.T.2    Tan, Q.3    Kir, J.4    Liu, D.5    Bryant, D.6
  • 23
    • 41049091716 scopus 로고    scopus 로고
    • Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region
    • Jiang YH,Wauki K, Liu Q, Bressler J, Pan Y, Kashork CD, et al. (2008). Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region. BMC Genomics 9:50
    • (2008) BMC Genomics , vol.9 , pp. 50
    • Jiang Yhwauki, K.1    Liu, Q.2    Bressler, J.3    Pan, Y.4    Kashork, C.D.5
  • 25
    • 65649112466 scopus 로고    scopus 로고
    • Functional and evolutionary insights into human brain development through global transcriptome analysis
    • Johnson MB, Kawasawa YI, Mason CE, Krsnik Z, Coppola G, Bogdanovic D, et al. (2009). Functional and evolutionary insights into human brain development through global transcriptome analysis. Neuron 62:494-509
    • (2009) Neuron , vol.62 , pp. 494-509
    • Johnson, M.B.1    Kawasawa, Y.I.2    Mason, C.E.3    Krsnik, Z.4    Coppola, G.5    Bogdanovic, D.6
  • 26
    • 30844442607 scopus 로고    scopus 로고
    • The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C
    • DOI 10.1126/science.1118265
    • Kishore S, Stamm S (2006). The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C. Science 311:230-232 (Pubitemid 43108188)
    • (2006) Science , vol.311 , Issue.5758 , pp. 230-232
    • Kishore, S.1    Stamm, S.2
  • 27
    • 4344641894 scopus 로고    scopus 로고
    • Analysis of alternative splicing with microarrays: Successes and challenges
    • Lee C, Roy M (2004). Analysis of alternative splicing with microarrays: successes and challenges. Genome Biol 5:231.1-231.4
    • (2004) Genome Biol , vol.5 , pp. 2311-2314
    • Lee, C.1    Roy, M.2
  • 28
    • 77953722272 scopus 로고    scopus 로고
    • TRAP150 activates pre-mRNA splicing and promotes nuclear mRNA degradation
    • Lee KM, Hsu Ia W, Tarn WY (2010). TRAP150 activates pre-mRNA splicing and promotes nuclear mRNA degradation. Nucleic Acids Res 38:3340-3350
    • (2010) Nucleic Acids Res , vol.38 , pp. 3340-3350
    • Lee, K.M.1    Hsu Ia, W.2    Wy, T.3
  • 29
    • 33749054403 scopus 로고    scopus 로고
    • Splicing regulation in neurologic disease
    • DOI 10.1016/j.neuron.2006.09.017, PII S0896627306007240
    • Licatalosi DD, Darnell RB (2006). Splicing regulation in neurologic disease. Neuron 52:93-101 (Pubitemid 44466357)
    • (2006) Neuron , vol.52 , Issue.1 , pp. 93-101
    • Licatalosi, D.D.1    Darnell, R.B.2
  • 30
    • 67649387094 scopus 로고    scopus 로고
    • Involvement of the PRKCB1 gene in autistic disorder: Significant genetic association and reduced neocortical gene expression
    • Lintas C, Sacco R, Garbett K, Mirnics K, Militerni R, Bravaccio C, et al. (2009). Involvement of the PRKCB1 gene in autistic disorder: significant genetic association and reduced neocortical gene expression. Mol Psychiatry 14:705-718
    • (2009) Mol Psychiatry , vol.14 , pp. 705-718
    • Lintas, C.1    Sacco, R.2    Garbett, K.3    Mirnics, K.4    Militerni, R.5    Bravaccio, C.6
  • 31
    • 0027997172 scopus 로고
    • Autism diagnostic interview-revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders
    • DOI 10.1007/BF02172145
    • Lord C, Rutter M, Le Couteur A (1994). Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord 24: 659-685 (Pubitemid 24309810)
    • (1994) Journal of Autism and Developmental Disorders , vol.24 , Issue.5 , pp. 659-685
    • Lord, C.1    Rutter, M.2    Couteur, A.L.3
  • 32
    • 70349941389 scopus 로고    scopus 로고
    • Autism Genetic Database (AGD): A comprehensive database including autism susceptibility gene-CNVs integrated with known noncoding RNAs and fragile sites
    • Matuszek G, Talebizadeh Z (2009). Autism Genetic Database (AGD): a comprehensive database including autism susceptibility gene-CNVs integrated with known noncoding RNAs and fragile sites. BMC Med Genet 10:102
    • (2009) BMC Med Genet , vol.10 , pp. 102
    • Matuszek, G.1    Talebizadeh, Z.2
  • 34
    • 34548824879 scopus 로고    scopus 로고
    • An annotation infrastructure for the analysis and interpretation of Affymetrix exon array data
    • Okoniewski MJ, Yates T, Dibben S, Miller CJ (2007). An annotation infrastructure for the analysis and interpretation of Affymetrix exon array data. Genome Biol 8:R79.1-R79.9
    • (2007) Genome Biol , vol.8
    • Okoniewski, M.J.1    Yates, T.2    Dibben, S.3    Miller, C.J.4
  • 36
    • 84862996504 scopus 로고    scopus 로고
    • A systematic comparison and evaluation of high density exon arrays and RNA-seq technology used to unravel the peripheral blood transcriptome of sickle cell disease
    • Raghavachari N, Barb J, Yang Y, Liu P, Woodhouse K, Levy D, et al. (2012). A systematic comparison and evaluation of high density exon arrays and RNA-seq technology used to unravel the peripheral blood transcriptome of sickle cell disease. BMC Med Genomics 5:28
    • BMC Med Genomics , vol.5 , pp. 28
    • Raghavachari, N.1    Barb, J.2    Yang, Y.3    Liu, P.4    Woodhouse, K.5    Levy, D.6
  • 38
    • 0033999021 scopus 로고    scopus 로고
    • DXS6673E encodes a predominantly nuclear protein, and its mouse ortholog DXHXS6673E is alternatively spliced in a developmental- and tissue-specific manner
    • DOI 10.1006/geno.1999.6027
    • Scheer MP, van der Maarel S, Kubart S, Schulz A, Wirth J, Schweiger S, et al. (2000). DXS6673E encodes a predominantly nuclear protein, and its mouse ortholog DXHXS6673E is alternatively spliced in a developmental- and tissue-specific manner. Genomics 63:123-132 (Pubitemid 30112246)
    • (2000) Genomics , vol.63 , Issue.1 , pp. 123-132
    • Scheer, M.P.1    Van Der Maarel, S.2    Kubart, S.3    Schulz, A.4    Wirth, J.5    Schweiger, S.6    Ropers, H.-H.7    Nothwang, H.G.8
  • 39
    • 0037523396 scopus 로고    scopus 로고
    • CYFIP/Sra-1 controls neuronal connectivity in Drosophila and links the Rac1 GTPase pathway to the fragile X protein
    • DOI 10.1016/S0896-6273(03)00354-4
    • Schenck A, Bardoni B, Langmann C, Harden N, Mandel JL, Giangrande A (2003). CYFIP/Sra-1 controls neuronal connectivity in Drosophila and links the Rac1 GTPase pathway to the fragile X protein. Neuron 38:887-898 (Pubitemid 36782381)
    • (2003) Neuron , vol.38 , Issue.6 , pp. 887-898
    • Schenck, A.1    Bardoni, B.2    Langmann, C.3    Harden, N.4    Mandel, J.-L.5    Giangrande, A.6
  • 40
    • 0033200037 scopus 로고    scopus 로고
    • Cloning and mapping of members of the MYM family
    • DOI 10.1006/geno.1999.5918
    • Smedley D, Hamoudi R, Lu YJ, Cooper C, Shipley J (1999). Cloning and mapping of members of the MYM family. Genomics 60:244-247 (Pubitemid 29463685)
    • (1999) Genomics , vol.60 , Issue.2 , pp. 244-247
    • Smedley, D.1    Hamoudi, R.2    Lu, Y.-J.3    Cooper, C.4    Shipley, J.5
  • 42
    • 74149089177 scopus 로고    scopus 로고
    • Administration of thyroid hormone increases reelin and brain-derived neurotrophic factor expression in rat hippocampus in vivo
    • Sui L, RenWW, Li BM (2010). Administration of thyroid hormone increases reelin and brain-derived neurotrophic factor expression in rat hippocampus in vivo. Brain Res 1313:9-24
    • Brain Res , vol.1313 , pp. 9-24
    • Sui, L.1    Bm, R.2    Li, B.M.3
  • 44
    • 33750940412 scopus 로고    scopus 로고
    • X chromosome gene expression in human tissues: Male and female comparisons
    • DOI 10.1016/j.ygeno.2006.07.016, PII S0888754306002175
    • Talebizadeh Z, Simon SD, Butler MG (2006b). X chromosome gene expression in human tissues: male and female comparisons. Genomics 88:675-681 (Pubitemid 44739205)
    • (2006) Genomics , vol.88 , Issue.6 , pp. 675-681
    • Talebizadeh, Z.1    Simon, S.D.2    Butler, M.G.3
  • 48
    • 79959262465 scopus 로고    scopus 로고
    • Transcriptomic analysis of autistic brain reveals convergent molecular pathology
    • Voineagu I, Wang X, Johnston P, Lowe JK, Tian Y, Horvath S, et al. (2011). Transcriptomic analysis of autistic brain reveals convergent molecular pathology. Nature 474:380-384
    • (2011) Nature , vol.474 , pp. 380-384
    • Voineagu, I.1    Wang, X.2    Johnston, P.3    Lowe, J.K.4    Tian, Y.5    Horvath, S.6
  • 51
    • 10944229314 scopus 로고    scopus 로고
    • Variation in alternative splicing across human tissues
    • Yeo G, Holste D, Kreiman G, Burge CB (2004). Variation in alternative splicing across human tissues. Genome Biol 5:R74.1-R74.15
    • (2004) Genome Biol , vol.5
    • Yeo, G.1    Holste, D.2    Kreiman, G.3    Burge, C.B.4
  • 52
    • 35748959630 scopus 로고    scopus 로고
    • Alternative splicing events identified in human embryonic stem cells and neural progenitors
    • DOI 10.1371/journal.pcbi.0030196
    • Yeo GW, Xu X, Liang TY, Muotri AR, Carson CT, Coufal NG, Gage FH (2007). Alternative splicing events identified in human embryonic stem cells and neural progenitors. PLoS Comput Biol 3:1951-1967 (Pubitemid 350043410)
    • (2007) PLoS Computational Biology , vol.3 , Issue.10 , pp. 1951-1967
    • Yeo, G.W.1    Xu, X.2    Liang, T.Y.3    Muotri, A.R.4    Carson, C.T.5    Coufal, N.G.6    Gage, F.H.7
  • 53
    • 58849106627 scopus 로고    scopus 로고
    • Identification of common genetic variants that account for transcript isoform variation between human populations
    • Zhang W, Duan S, Bleibel WK, Wisel SA, Huang RS, Wu X, et al. (2009). Identification of common genetic variants that account for transcript isoform variation between human populations. Hum Genet 125:81-93
    • (2009) Hum Genet , vol.125 , pp. 81-93
    • Zhang, W.1    Duan, S.2    Bleibel, W.K.3    Wisel, S.A.4    Huang, R.S.5    Wu, X.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.