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NTIS 바로가기American journal of human genetics, v.100 no.3, 2017년, pp.454 - 472
Lim, J.S. , Gopalappa, R. , Kim, S.H. , Ramakrishna, S. , Lee, M. , Kim, W.i. , Kim, J. , Park, S.M. , Lee, J. , Oh, J.H. , Kim, H.D. , Park, C.H. , Lee, J.S. , Kim, S. , Kim, D.S. , Han, J.M. , Kang, H.C. , Kim, H.(. , Lee, J.H.
Focal cortical dysplasia (FCD) is a major cause of the sporadic form of intractable focal epilepsies that require surgical treatment. It has recently been reported that brain somatic mutations in MTOR account for 15%-25% of FCD type II (FCDII), characterized by cortical dyslamination and dysmorphic ...
Epileptic Disord. Blumcke 11 181 2009 Malformations of cortical development and epilepsies: neuropathological findings with emphasis on focal cortical dysplasia
Brain Sisodiya 123 1075 2000 10.1093/brain/123.6.1075 Surgery for malformations of cortical development causing epilepsy
Acta Neurol. Scand. Bast 113 72 2006 10.1111/j.1600-0404.2005.00555.x Focal cortical dysplasia: prevalence, clinical presentation and epilepsy in children and adults
Brain Tassi 125 1719 2002 10.1093/brain/awf175 Focal cortical dysplasia: neuropathological subtypes, EEG, neuroimaging and surgical outcome
Brain Fauser 129 1907 2006 10.1093/brain/awl133 Clinical characteristics in focal cortical dysplasia: a retrospective evaluation in a series of 120 patients
Brain Fauser 127 2406 2004 10.1093/brain/awh277 Focal cortical dysplasias: surgical outcome in 67 patients in relation to histological subtypes and dual pathology
J. Biol. Chem. Zech 291 20008 2016 10.1074/jbc.M116.732446 Structure of the Tuberous Sclerosis Complex 2 (TSC2) N Terminus Provides Insight into Complex Assembly and Tuberous Sclerosis Pathogenesis
Nat. Med. Lim 21 395 2015 10.1038/nm.3824 Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy
Ann. Neurol. Nakashima 78 375 2015 10.1002/ana.24444 Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb
Nat. Neurosci. Costa-Mattioli 16 1537 2013 10.1038/nn.3546 mTOR complexes in neurodevelopmental and neuropsychiatric disorders
Wong 2012 SourceJasper’s Basic Mechanisms of the Epilepsies
Cell Laplante 149 274 2012 10.1016/j.cell.2012.03.017 mTOR signaling in growth control and disease
Acta Neuropathol. Aronica 114 287 2007 10.1007/s00401-007-0225-6 Co-expression of cyclin D1 and phosphorylated ribosomal S6 proteins in hemimegalencephaly
Ann. Neurol. Baybis 56 478 2004 10.1002/ana.20211 mTOR cascade activation distinguishes tubers from focal cortical dysplasia
Ann. Neurol. Ljungberg 60 420 2006 10.1002/ana.20949 Activation of mammalian target of rapamycin in cytomegalic neurons of human cortical dysplasia
Ann. Neurol. Miyata 56 510 2004 10.1002/ana.20234 Insulin signaling pathways in cortical dysplasia and TSC-tubers: tissue microarray analysis
Ann. Neurol. D’Gama 77 720 2015 10.1002/ana.24357 Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia
Nat. Genet. Inoki 37 19 2005 10.1038/ng1494 Dysregulation of the TSC-mTOR pathway in human disease
Nat. Genet. Lee 44 941 2012 10.1038/ng.2329 De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly
Hum. Genet. Qin 127 573 2010 10.1007/s00439-010-0801-z Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex
PLoS Genet. Tyburczy 11 e1005637 2015 10.1371/journal.pgen.1005637 Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing
J. Clin. Invest. Feliciano 121 1596 2011 10.1172/JCI44909 Single-cell Tsc1 knockout during corticogenesis generates tuber-like lesions and reduces seizure threshold in mice
Science Doudna 346 1258096 2014 10.1126/science.1258096 Genome editing. The new frontier of genome engineering with CRISPR-Cas9
Nat. Rev. Genet. Kim 15 321 2014 10.1038/nrg3686 A guide to genome engineering with programmable nucleases
Epilepsia Blumcke 52 158 2011 10.1111/j.1528-1167.2010.02777.x The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission
Epilepsia Kim 52 722 2011 10.1111/j.1528-1167.2010.02950.x Neuroimaging in identifying focal cortical dysplasia and prognostic factors in pediatric and adolescent epilepsy surgery
Pediatr. Neurol. Northrup 49 243 2013 10.1016/j.pediatrneurol.2013.08.001 Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference
N. Engl. J. Med. Shirley 368 1971 2013 10.1056/NEJMoa1213507 Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ
Genome Biol. Kuilman 16 49 2015 10.1186/s13059-015-0617-1 CopywriteR: DNA copy number detection from off-target sequence data
Science Cong 339 819 2013 10.1126/science.1231143 Multiplex genome engineering using CRISPR/Cas systems
Genome Res. Ramakrishna 24 1020 2014 10.1101/gr.171264.113 Gene disruption by cell-penetrating peptide-mediated delivery of Cas9 protein and guide RNA
Genome Res. Kim 19 1279 2009 10.1101/gr.089417.108 Targeted genome editing in human cells with zinc finger nucleases constructed via modular assembly
Methods Kim 69 108 2014 10.1016/j.ymeth.2014.04.012 Enrichment of cells with TALEN-induced mutations using surrogate reporters
Methods Mol. Biol. Guschin 649 247 2010 10.1007/978-1-60761-753-2_15 A rapid and general assay for monitoring endogenous gene modification
Nat. Commun. Ramakrishna 5 3378 2014 10.1038/ncomms4378 Surrogate reporter-based enrichment of cells containing RNA-guided Cas9 nuclease-induced mutations
Cell Rep. Renaud 14 2263 2016 10.1016/j.celrep.2016.02.018 Improved Genome Editing Efficiency and Flexibility Using Modified Oligonucleotides with TALEN and CRISPR-Cas9 Nucleases
Genet. Med. Au 9 88 2007 10.1097/GIM.0b013e31803068c7 Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States
Bioinformatics Saunders 28 1811 2012 10.1093/bioinformatics/bts271 Strelka: accurate somatic small-variant calling from sequenced tumor-normal sample pairs
PLoS ONE Ratan 8 e55089 2013 10.1371/journal.pone.0055089 Comparison of sequencing platforms for single nucleotide variant calls in a human sample
Nat. Biotechnol. Lam 30 78 2011 10.1038/nbt.2065 Performance comparison of whole-genome sequencing platforms
Nat. Genet. Lin 46 866 2014 10.1038/ng.3006 The genomic landscape of nasopharyngeal carcinoma
Biochem. J. Huang 412 179 2008 10.1042/BJ20080281 The TSC1-TSC2 complex: a molecular switchboard controlling cell growth
Oncogene Benvenuto 19 6306 2000 10.1038/sj.onc.1204009 The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination
J. Biol. Chem. Chong-Kopera 281 8313 2006 10.1074/jbc.C500451200 TSC1 stabilizes TSC2 by inhibiting the interaction between TSC2 and the HERC1 ubiquitin ligase
Mol. Cell. Biol. Li 24 7965 2004 10.1128/MCB.24.18.7965-7975.2004 Biochemical and functional characterizations of small GTPase Rheb and TSC2 GAP activity
Nat. Commun. Lozovaya 5 4563 2014 10.1038/ncomms5563 Selective suppression of excessive GluN2C expression rescues early epilepsy in a tuberous sclerosis murine model
Eur. J. Hum. Genet. Sancak 13 731 2005 10.1038/sj.ejhg.5201402 Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex
Epilepsy Curr. Wong 15 129 2015 10.5698/1535-7597-15.3.129 Tuber-Less Models of Tuberous Sclerosis Still Provide Insights Into Epilepsy
Hum. Mutat. Hoogeveen-Westerveld 33 476 2012 10.1002/humu.22007 Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex
BMC Med. Genet. Mozaffari 10 88 2009 10.1186/1471-2350-10-88 Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex
Dis. Model. Mech. Magri 6 1185 2013 10.1242/dmm.012096 Timing of mTOR activation affects tuberous sclerosis complex neuropathology in mouse models
J. Clin. Invest. Zhang 112 1223 2003 10.1172/JCI200317222 Loss of Tsc1/Tsc2 activates mTOR and disrupts PI3K-Akt signaling through downregulation of PDGFR
Cell Mikuni 165 1803 2016 10.1016/j.cell.2016.04.044 High-Throughput, High-Resolution Mapping of Protein Localization in Mammalian Brain by In Vivo Genome Editing
Nat. Protoc. Ran 8 2281 2013 10.1038/nprot.2013.143 Genome engineering using the CRISPR-Cas9 system
N. Engl. J. Med. Jamuar 371 733 2014 10.1056/NEJMoa1314432 Somatic mutations in cerebral cortical malformations
Science Poduri 341 1237758 2013 10.1126/science.1237758 Somatic mutation, genomic variation, and neurological disease
Annu. Rev. Genomics Hum. Genet. Hu 15 195 2014 10.1146/annurev-genom-090413-025600 The diverse genetic landscape of neurodevelopmental disorders
Genome Biol. Kim 14 R90 2013 10.1186/gb-2013-14-8-r90 Virmid: accurate detection of somatic mutations with sample impurity inference
Exp. Mol. Med. Lee 48 e239 2016 10.1038/emm.2016.53 Somatic mutations in disorders with disrupted brain connectivity
Trends Biotechnol. Gaj 31 397 2013 10.1016/j.tibtech.2013.04.004 ZFN, TALEN, and CRISPR/Cas-based methods for genome engineering
Cell Hsu 157 1262 2014 10.1016/j.cell.2014.05.010 Development and applications of CRISPR-Cas9 for genome engineering
Nat. Commun. Zuckermann 6 7391 2015 10.1038/ncomms8391 Somatic CRISPR/Cas9-mediated tumour suppressor disruption enables versatile brain tumour modelling
PLoS ONE Straub 9 e105584 2014 10.1371/journal.pone.0105584 CRISPR/Cas9-mediated gene knock-down in post-mitotic neurons
EMBO Rep. Kalebic 17 338 2016 10.15252/embr.201541715 CRISPR/Cas9-induced disruption of gene expression in mouse embryonic brain and single neural stem cells in vivo
Nature Lek 536 285 2016 10.1038/nature19057 Analysis of protein-coding genetic variation in 60,706 humans
Genet. Med. Walsh 2016 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples
Hum. Mutat. Hoogeveen-Westerveld 32 424 2011 10.1002/humu.21451 Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex
Ann. Neurol. Baulac 77 675 2015 10.1002/ana.24368 Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations
Ann. Neurol. Sim 79 132 2016 10.1002/ana.24502 Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3
Brain Jansen 138 1613 2015 10.1093/brain/awv045 PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia
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