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Neurology: Genetics
Volumn 2, Issue 3, 2016, Pages
Mutation of TBCK causes a rare recessive developmental disorder
Author keywords

[No Author keywords available]
Indexed keywords

GOSERELIN; LAMOTRIGINE; LEVETIRACETAM; RAB PROTEIN; TBCK PROTEIN; UNCLASSIFIED DRUG;
EID: 85009694334     PISSN: None     EISSN: 23767839     Source Type: Journal    
DOI: 10.1212/NXG.0000000000000076     Document Type: Article
Times cited : (15)
References (8)
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  • 2
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    • A familial dysmorphic condition with hypotonia, seizures and precocious puberty
    • Smith A, Leask K, Tomlin P, Donnai D. A familial dysmorphic condition with hypotonia, seizures and precocious puberty. Clin Dysmorphol 2008; 17: 161-164
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  • 3
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    • Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened mulitplex consanguineous families
    • Alazami AM, Patel N, Shamseldin HE, et al. Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened mulitplex consanguineous families. Cell Rep 2015; 10: 148-161
    • (2015) Cell Rep , vol.10 , pp. 148-161
    • Alazami, A.M.1    Patel, N.2    Shamseldin, H.E.3
  • 4
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    • Comprehensive mapping of the human kinome to epidermal growth factor receptor signaling
    • Komurov K, Padron D, Cheng T, Roth M, Rosenblatt KP, White M. Comprehensive mapping of the human kinome to epidermal growth factor receptor signaling. J Biol Chem 2010; 285: 21134-21142
    • (2010) J Biol Chem , vol.285 , pp. 21134-21142
    • Komurov, K.1    Padron, D.2    Cheng, T.3    Roth, M.4    Rosenblatt, K.P.5    White, M.6
  • 5
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    • Systems survey of endocytosis by multiparametric image analysis
    • Collinet C, Stöter M, Bradshaw CR, et al. Systems survey of endocytosis by multiparametric image analysis. Nature 2010; 464: 243-249
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    • Collinet, C.1    Stöter, M.2    Bradshaw, C.R.3
  • 6
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    • The oncogenic TBC domain protein USP6/TRE17 regulates cell migration and cytokinesis
    • Rueckert C, Haucke V. The oncogenic TBC domain protein USP6/TRE17 regulates cell migration and cytokinesis. Biol Cell 2012; 104: 22-33
    • (2012) Biol Cell , vol.104 , pp. 22-33
    • Rueckert, C.1    Haucke, V.2
  • 7
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    • TBCK influences cell proliferation, cell size and mTOR signaling pathway
    • Liu Y, Yan X, Zhou T. TBCK influences cell proliferation, cell size and mTOR signaling pathway. PLoS One 2013; 8: e71349
    • (2013) Plos One , vol.8 , pp. e71349
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  • 8
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    • A long type of TBCK is a novel cytoplasmic and mitotic apparatus-associated protein likely suppressing cell proliferation
    • Wu J, Li Q, Li Y, et al. A long type of TBCK is a novel cytoplasmic and mitotic apparatus-associated protein likely suppressing cell proliferation. J Genet Genomics 2014; 41: 69-72
    • (2014) J Genet Genomics , vol.41 , pp. 69-72
    • Wu, J.1    Li, Q.2    Li, Y.3

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.