메뉴 건너뛰기




Volumn 60, Issue 5, 2015, Pages 277-279

A case of autism spectrum disorder arising from a de novo missense mutation in POGZ

Author keywords

[No Author keywords available]

Indexed keywords

CENTROMERE PROTEIN B; GENOMIC DNA; HETEROCHROMATIN PROTEIN 1; POGZ PROTEIN; REGULATOR PROTEIN; UNCLASSIFIED DRUG; POGZ PROTEIN, HUMAN; TRANSPOSASE;

EID: 84929915084     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2015.13     Document Type: Article
Times cited : (38)

References (20)
  • 1
    • 79952313620 scopus 로고    scopus 로고
    • Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting
    • Betancur C. Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting. Brain Res. 1380, 42-77 (2011
    • (2011) Brain Res , vol.1380 , pp. 42-77
    • Betancur, C.1
  • 2
    • 84862160222 scopus 로고    scopus 로고
    • Global prevalence of autism and other pervasive developmental disorders
    • Elsabbagh M., Divan G., Koh Y. J., Kim Y. S., Kauchali S., Marcin C., et al. Global prevalence of autism and other pervasive developmental disorders. Autism Res. 5, 160-179 (2012
    • (2012) Autism Res , vol.5 , pp. 160-179
    • Elsabbagh, M.1    Divan, G.2    Koh, Y.J.3    Kim, Y.S.4    Kauchali, S.5    Marcin, C.6
  • 4
    • 84862224852 scopus 로고    scopus 로고
    • AutismKB: An evidencebased knowledgebase of autism genetics
    • Xu L. M., Li J. R., Huang Y., Zhao M., Tang X. & Wei L. AutismKB: an evidencebased knowledgebase of autism genetics. Nucleic Acids Res. 40, D1016-D1022 (2012
    • (2012) Nucleic Acids Res , vol.40 , pp. D1016-D1022
    • Xu, L.M.1    Li, J.R.2    Huang, Y.3    Zhao, M.4    Tang, X.5    Wei, L.6
  • 5
    • 84871371945 scopus 로고    scopus 로고
    • The autism sequencing consortium: Large-scale, high-throughput sequencing in autism spectrum disorders
    • Buxbaum J. D., Daly M. J., Devlin B., Lehner T., Roeder K. & State M. W. The autism sequencing consortium: large-scale, high-throughput sequencing in autism spectrum disorders. Neuron 76, 1052-1056 (2012
    • (2012) Neuron , vol.76 , pp. 1052-1056
    • Buxbaum, J.D.1    Daly, M.J.2    Devlin, B.3    Lehner, T.4    Roeder, K.5    State, M.W.6
  • 6
    • 84860741138 scopus 로고    scopus 로고
    • Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
    • O'Roak B. J., Vives L., Girirajan S., Karakoc E., Krumm N., Coe B. P., et al. Sporadic autism exomes reveal a highly interconnected protein network of De novo mutations. Nature 485, 246-250 (2012
    • (2012) Nature , vol.485 , pp. 246-250
    • O'Roak, B.J.1    Vives, L.2    Girirajan, S.3    Karakoc, E.4    Krumm, N.5    Coe, B.P.6
  • 7
    • 84860712363 scopus 로고    scopus 로고
    • Patterns and rates of exonic de novo mutations in autism spectrum disorders
    • Neale B. M., Kou Y., Liu L., Máayan A., Samocha K. E., Sabo A., et al. Patterns and rates of exonic De novo mutations in autism spectrum disorders. Nature 485, 242-245 (2012
    • (2012) Nature , vol.485 , pp. 242-245
    • Neale, B.M.1    Kou, Y.2    Liu, L.3    Máayan, A.4    Samocha, K.E.5    Sabo, A.6
  • 8
    • 84860780495 scopus 로고    scopus 로고
    • De novo mutations revealed by whole-exome sequencing are strongly associated with autism
    • Sanders S. J., Murtha M. T., Gupta A. R., Murdoch J. D., Raubeson M. J., Willsey A. J., et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 485, 237-241 (2012
    • (2012) Nature , vol.485 , pp. 237-241
    • Sanders, S.J.1    Murtha, M.T.2    Gupta, A.R.3    Murdoch, J.D.4    Raubeson, M.J.5    Willsey, A.J.6
  • 11
    • 84912101541 scopus 로고    scopus 로고
    • The contribution of de novo coding mutations to autism spectrum disorder
    • Iossifov I., O'Roak B. J., Sanders S. J., Ronemus M., Krumm N., Levy D., et al. The contribution of De novo coding mutations to autism spectrum disorder. Nature 515, 216-221 (2014
    • (2014) Nature , vol.515 , pp. 216-221
    • Iossifov, I.1    O'Roak, B.J.2    Sanders, S.J.3    Ronemus, M.4    Krumm, N.5    Levy, D.6
  • 13
    • 0002787464 scopus 로고
    • Analytic test for development in infancy and childhood
    • Enjoji M. & Yanai N. Analytic test for development in infancy and childhood. Pediatr. Int. 4, 2-6 (1961
    • (1961) Pediatr. Int , vol.4 , pp. 2-6
    • Enjoji, M.1    Yanai, N.2
  • 14
    • 0043122919 scopus 로고    scopus 로고
    • Sift: Predicting amino acid changes that affect protein function
    • Ng P. C. & Henikoff S. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res. 31, 3812-3814 (2003
    • (2003) Nucleic Acids Res , vol.31 , pp. 3812-3814
    • Ng, P.C.1    Henikoff, S.2
  • 16
    • 77955151784 scopus 로고    scopus 로고
    • MutationTaster evaluates disease-causing potential of sequence alterations
    • Schwarz J. M., Rodelsperger C., Schuelke M. & Seelow D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat. Methods 7, 575-576 (2010
    • (2010) Nat. Methods , vol.7 , pp. 575-576
    • Schwarz, J.M.1    Rodelsperger, C.2    Schuelke, M.3    Seelow, D.4
  • 17
    • 84892799819 scopus 로고    scopus 로고
    • The role of de novo mutations in the genetics of autism spectrum disorders
    • Ronemus M., Iossifov I., Levy D. & Wigler M. The role of De novo mutations in the genetics of autism spectrum disorders. Nat. Rev. Genet. 15, 133-141 (2014
    • (2014) Nat. Rev. Genet , vol.15 , pp. 133-141
    • Ronemus, M.1    Iossifov, I.2    Levy, D.3    Wigler, M.4
  • 18
    • 84899472749 scopus 로고    scopus 로고
    • Dawn: A framework to identify autism genes and subnetworks using gene expression and genetics
    • Liu L., Lei J., Sanders S. J., Willsey A. J., Kou Y., Cicek A. E., et al. DAWN: a framework to identify autism genes and subnetworks using gene expression and genetics. Mol. Autism 5, 22 (2014
    • (2014) Mol. Autism , vol.5 , Issue.22
    • Liu, L.1    Lei, J.2    Sanders, S.J.3    Willsey, A.J.4    Kou, Y.5    Cicek, A.E.6
  • 19
    • 0034744439 scopus 로고    scopus 로고
    • Three classes of C2H2 zinc finger proteins
    • Iuchi S. Three classes of C2H2 zinc finger proteins. Cell. Mol. Life Sci. 58, 625-635 (2001
    • (2001) Cell. Mol. Life Sci , vol.58 , pp. 625-635
    • Iuchi, S.1
  • 20
    • 77954244593 scopus 로고    scopus 로고
    • Human pogz modulates dissociation of hp1alpha from mitotic chromosome arms through aurora b activation
    • Nozawa R. S., Nagao K., Masuda H. T., Iwasaki O., Hirota T., Nozaki N., et al. Human POGZ modulates dissociation of HP1alpha from mitotic chromosome arms through Aurora B activation. Nat. Cell Biol. 12, 719-727 (2010
    • (2010) Nat. Cell Biol , vol.12 , pp. 719-727
    • Nozawa, R.S.1    Nagao, K.2    Masuda, H.T.3    Iwasaki, O.4    Hirota, T.5    Nozaki, N.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.