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Volumn 25, Issue 6, 2015, Pages 263-267

Mutation screening of the ubiquitin ligase gene RNF135 in French patients with autism

Author keywords

Autistic spectrum disorder; E3 ligase; Ring finger protein 135; Ubiquitin

Indexed keywords

DNA; MESSENGER RNA; RING FINGER PROTEIN; RING FINGER PROTEIN 135; UBIQUITIN PROTEIN LIGASE E3; UNCLASSIFIED DRUG; CARRIER PROTEIN; RNF135 PROTEIN, HUMAN;

EID: 84946483266     PISSN: 09558829     EISSN: 14735873     Source Type: Journal    
DOI: 10.1097/YPG.0000000000000100     Document Type: Article
Times cited : (17)

References (34)
  • 1
    • 84867829870 scopus 로고    scopus 로고
    • Individual common variants exert weak effects on the risk for autism spectrum disorderspi
    • Anney R, Klei L, Pinto D, Almeida J, Bacchelli E, Baird G, et al. (2012). Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Hum Mol Genet 21: 4781-4792.
    • (2012) Hum Mol Genet , vol.21 , pp. 4781-4792
    • Anney, R.1    Klei, L.2    Pinto, D.3    Almeida, J.4    Bacchelli, E.5    Baird, G.6
  • 2
    • 84870469320 scopus 로고    scopus 로고
    • American Psychiatric Association 4th ed. Washington, DC: American Psychiatric Association
    • American Psychiatric Association (2000). Diagnostic and statistical manual of mental disorders - text revision, (4th ed. Washington, DC: American Psychiatric Association.
    • (2000) Diagnostic and Statistical Manual of Mental Disorders - Text Revision
  • 3
    • 39649095637 scopus 로고    scopus 로고
    • The duality of epidermal growth factor receptor (EGFR) signaling and neural stem cell phenotype: Cell enhancer or cell transformer?
    • Ayuso-Sacido A, Graham C, Greenfield JP, Boockvar JA (2006). The duality of epidermal growth factor receptor (EGFR) signaling and neural stem cell phenotype: Cell enhancer or cell transformer? Curr Stem Cell Res Ther 1: 387-394.
    • (2006) Curr Stem Cell Res Ther , vol.1 , pp. 387-394
    • Ayuso-Sacido, A.1    Graham, C.2    Greenfield, J.P.3    Boockvar, J.A.4
  • 5
    • 84860564877 scopus 로고    scopus 로고
    • Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism
    • Chahrour MH, Yu TW, Lim ET, Ataman B, Coulter ME, Hill RS, et al., ARRA Autism Sequencing Collaboration (2012). Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism. PLoS Genet 8: E1002635.
    • (2012) PLoS Genet , vol.8 , pp. e1002635
    • Chahrour, M.H.1    Yu, T.W.2    Lim, E.T.3    Ataman, B.4    Coulter, M.E.5    Hill, R.S.6
  • 8
    • 34547533520 scopus 로고    scopus 로고
    • Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth
    • Douglas J, Cilliers D, Coleman K, Tatton-Brown K, Barker K, Bernhard B, et al., Childhood Overgrowth Collaboration (2007). Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth. Nat Genet 39: 963-965.
    • (2007) Nat Genet , vol.39 , pp. 963-965
    • Douglas, J.1    Cilliers, D.2    Coleman, K.3    Tatton-Brown, K.4    Barker, K.5    Bernhard, B.6
  • 9
    • 44949118621 scopus 로고    scopus 로고
    • Anaplastic oligodendrogliomas with 1p19q codeletion have a proneural gene expression profile
    • Ducray F, Idbaih A, de Reyniès A, Bièche I, Thillet J, Mokhtari K, et al. (2008). Anaplastic oligodendrogliomas with 1p19q codeletion have a proneural gene expression profile. Mol Cancer 7: 41.
    • (2008) Mol Cancer , vol.7 , pp. 41
    • Ducray, F.1    Idbaih, A.2    De Reyniès, A.3    Bièche, I.4    Thillet, J.5    Mokhtari, K.6
  • 10
    • 67049118065 scopus 로고    scopus 로고
    • Epidemiology of pervasive developmental disorders
    • Fombonne E (2009). Epidemiology of pervasive developmental disorders. Pediatr Res 65: 591-598.
    • (2009) Pediatr Res , vol.65 , pp. 591-598
    • Fombonne, E.1
  • 11
    • 40749130484 scopus 로고    scopus 로고
    • Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation
    • Froyen G, Corbett M, Vandewalle J, Jarvela I, Lawrence O, Meldrum C, et al. (2008). Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. Am J Hum Genet 82: 432-443.
    • (2008) Am J Hum Genet , vol.82 , pp. 432-443
    • Froyen, G.1    Corbett, M.2    Vandewalle, J.3    Jarvela, I.4    Lawrence, O.5    Meldrum, C.6
  • 12
    • 67349182343 scopus 로고    scopus 로고
    • Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
    • Glessner JT, Wang K, Cai G, Korvatska O, Kim CE,Wood S, et al. (2009). Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature 459: 569-573.
    • (2009) Nature , vol.459 , pp. 569-573
    • Glessner, J.T.1    Wang, K.2    Cai, G.3    Korvatska, O.4    Kim, C.E.5    Wood, S.6
  • 13
    • 80054993342 scopus 로고    scopus 로고
    • Spatio-temporal transcriptome of the human brain
    • Kang HJ, Kawasawa YI, Cheng F, Zhu Y, Xu X, Li M, et al. (2011). Spatio-temporal transcriptome of the human brain. Nature 478: 483-489.
    • (2011) Nature , vol.478 , pp. 483-489
    • Kang, H.J.1    Kawasawa, Y.I.2    Cheng, F.3    Zhu, Y.4    Xu, X.5    Li, M.6
  • 14
    • 0031012849 scopus 로고    scopus 로고
    • UBE3A/E6-AP mutations cause Angelman syndrome
    • Kishino T, Lalande M, Wagstaff J (1997). UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet 15: 70-73.
    • (1997) Nat Genet , vol.15 , pp. 70-73
    • Kishino, T.1    Lalande, M.2    Wagstaff, J.3
  • 15
    • 84874097245 scopus 로고    scopus 로고
    • Macrocephaly as a clinical indicator of genetic subtypes in autism
    • Klein S, Sharifi-Hannauer P, Martinez-Agosto JA (2013). Macrocephaly as a clinical indicator of genetic subtypes in autism. Autism Res 6: 51-56.
    • (2013) Autism Res , vol.6 , pp. 51-56
    • Klein, S.1    Sharifi-Hannauer, P.2    Martinez-Agosto, J.A.3
  • 16
    • 0031031570 scopus 로고    scopus 로고
    • De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
    • Matsuura T, Sutcliffe JS, Fang P, Galjaard RJ, Jiang YH, Benton CS, et al. (1997). De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nat Genet 15: 74-77.
    • (1997) Nat Genet , vol.15 , pp. 74-77
    • Matsuura, T.1    Sutcliffe, J.S.2    Fang, P.3    Galjaard, R.J.4    Jiang, Y.H.5    Benton, C.S.6
  • 18
    • 24144452995 scopus 로고    scopus 로고
    • Genome-wide and ordered-subset linkage analyses provide support for autism loci on 17q and 19p with evidence of phenotypic and interlocus genetic correlates
    • McCauley JL, Li C, Jiang L, Olson LM, Crockett G, Gainer K, et al. (2005). Genome-wide and ordered-subset linkage analyses provide support for autism loci on 17q and 19p with evidence of phenotypic and interlocus genetic correlates. BMC Med Genet 6: 1.
    • (2005) BMC Med Genet , vol.6 , pp. 1
    • McCauley, J.L.1    Li, C.2    Jiang, L.3    Olson, L.M.4    Crockett, G.5    Gainer, K.6
  • 19
    • 84921491655 scopus 로고    scopus 로고
    • RIG-I knockdown impedes neurogenesis in a murine model of Japanese encephalitis
    • Mukherjee S, Ghosh S, Nazmi A, Basu A (2015). RIG-I knockdown impedes neurogenesis in a murine model of Japanese encephalitis. Cell Biol Int 39: 224-229.
    • (2015) Cell Biol Int , vol.39 , pp. 224-229
    • Mukherjee, S.1    Ghosh, S.2    Nazmi, A.3    Basu, A.4
  • 20
    • 79959697149 scopus 로고    scopus 로고
    • RIG-I mediates innate immune response in mouse neurons following Japanese encephalitis virus infection
    • Nazmi A, Dutta K, Basu A (2011). RIG-I mediates innate immune response in mouse neurons following Japanese encephalitis virus infection. PLoS One 6: E21761.
    • (2011) PLoS One , vol.6 , pp. e21761
    • Nazmi, A.1    Dutta, K.2    Basu, A.3
  • 21
    • 59449091450 scopus 로고    scopus 로고
    • Riplet/RNF135, a RING finger protein, ubiquitinates RIG-I to promote interferon-beta induction during the early phase of viral infection
    • Oshiumi H, Matsumoto M, Hatakeyama S, Seya T (2009). Riplet/RNF135, a RING finger protein, ubiquitinates RIG-I to promote interferon-beta induction during the early phase of viral infection. J Biol Chem 284: 807-817.
    • (2009) J Biol Chem , vol.284 , pp. 807-817
    • Oshiumi, H.1    Matsumoto, M.2    Hatakeyama, S.3    Seya, T.4
  • 22
    • 84867426528 scopus 로고    scopus 로고
    • Cellular and synaptic network defects in autism
    • Peça J, Feng G (2012). Cellular and synaptic network defects in autism. Curr Opin Neurobiol 22: 866-872.
    • (2012) Curr Opin Neurobiol , vol.22 , pp. 866-872
    • Peça, J.1    Feng, G.2
  • 23
    • 0018854085 scopus 로고
    • Toward objective classification of childhood autism: Childhood Autism Rating Scale (CARS)
    • Schopler E, Reichler RJ, DeVellis RF, Daly K (1980). Toward objective classification of childhood autism: Childhood Autism Rating Scale (CARS). J Autism Dev Disord 10: 91-103.
    • (1980) J Autism Dev Disord , vol.10 , pp. 91-103
    • Schopler, E.1    Reichler, R.J.2    DeVellis, R.F.3    Daly, K.4
  • 25
    • 33846639529 scopus 로고    scopus 로고
    • Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor
    • Tarpey PS, Raymond FL, O'Meara S, Edkins S, Teague J, Butler A, et al. (2007). Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor. Am J Hum Genet 80: 345-352.
    • (2007) Am J Hum Genet , vol.80 , pp. 345-352
    • Tarpey, P.S.1    Raymond, F.L.2    O'Meara, S.3    Edkins, S.4    Teague, J.5    Butler, A.6
  • 27
    • 84871563278 scopus 로고    scopus 로고
    • Multiple autism-linked genes mediate synapse elimination via proteasomal degradation of a synaptic scaffold PSD-95
    • Tsai NP, Wilkerson JR, Guo W, Maksimova MA, DeMartino GN, Cowan CW, Huber KM (2012). Multiple autism-linked genes mediate synapse elimination via proteasomal degradation of a synaptic scaffold PSD-95. Cell 151: 1581-1594.
    • (2012) Cell , vol.151 , pp. 1581-1594
    • Tsai, N.P.1    Wilkerson, J.R.2    Guo, W.3    Maksimova, M.A.4    DeMartino, G.N.5    Cowan, C.W.6    Huber, K.M.7
  • 32
    • 67349112868 scopus 로고    scopus 로고
    • Common genetic variants on 5p14.1 associate with autism spectrum disorders
    • Wang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS, et al. (2009). Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature 459: 528-533.
    • (2009) Nature , vol.459 , pp. 528-533
    • Wang, K.1    Zhang, H.2    Ma, D.3    Bucan, M.4    Glessner, J.T.5    Abrahams, B.S.6
  • 33
    • 70349956425 scopus 로고    scopus 로고
    • A genome-wide linkage and association scan reveals novel loci for autism
    • Weiss LA, Arking DE, Daly MJ, Chakravarti A, Gene Discovery Project of Johns Hopkins the Autism Consortium (2009). A genome-wide linkage and association scan reveals novel loci for autism. Nature 461: 802-808.
    • (2009) Nature , vol.461 , pp. 802-808
    • Weiss, L.A.1    Arking, D.E.2    Daly, M.J.3    Chakravarti, A.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.