메뉴 건너뛰기




Volumn 13, Issue 5, 2013, Pages 832-841

Disease-specific iPS cell models in neuroscience

Author keywords

In vitro disease modeling; Induced pluripotent stem (iPS) cells; Neurological disorder; Neuroscience

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE; FRAGILE X MENTAL RETARDATION PROTEIN; HEPATOCYTE NUCLEAR FACTOR 3BETA; HUNTINGTIN; LEUCINE RICH REPEAT KINASE 2; METHYL CPG BINDING PROTEIN 2; PARKIN; SURVIVAL MOTOR NEURON PROTEIN 1; SURVIVAL MOTOR NEURON PROTEIN 2;

EID: 84881325019     PISSN: 15665240     EISSN: 18755666     Source Type: Journal    
DOI: 10.2174/1566524011313050014     Document Type: Review
Times cited : (29)

References (76)
  • 1
    • 33747195353 scopus 로고    scopus 로고
    • Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors
    • Takahashi K, Yamanaka S. Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors. Cell 2006; 126(4): 663-676.
    • (2006) Cell , vol.126 , Issue.4 , pp. 663-676
    • Takahashi, K.1    Yamanaka, S.2
  • 2
    • 33747605320 scopus 로고    scopus 로고
    • Molecular biology of amyotrophic lateral sclerosis: Insights from genetics
    • Pasinelli P, Brown RH. Molecular biology of amyotrophic lateral sclerosis: insights from genetics. Nat Rev Neurosci 2006; 7(9): 710-723.
    • (2006) Nat Rev Neurosci , vol.7 , Issue.9 , pp. 710-723
    • Pasinelli, P.1    Brown, R.H.2
  • 3
    • 50149098605 scopus 로고    scopus 로고
    • Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons
    • Dimos JT, Rodolfa KT, Niakan KK, et al. Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons. Science 2008; 321(5893): 1218-1221.
    • (2008) Science , vol.321 , Issue.5893 , pp. 1218-1221
    • Dimos, J.T.1    Rodolfa, K.T.2    Niakan, K.K.3
  • 4
    • 56549096129 scopus 로고    scopus 로고
    • Human embryonic stem cell-derived motor neurons are sensitive to the toxic effect of glial cells carrying an ALS-causing mutation
    • Di Giorgio FP, Boulting GL, Bobrowicz S, et al. Human embryonic stem cell-derived motor neurons are sensitive to the toxic effect of glial cells carrying an ALS-causing mutation. Cell Stem Cell 2008; 3(6): 637-648.
    • (2008) Cell Stem Cell , vol.3 , Issue.6 , pp. 637-648
    • Giorgio, D.F.P.1    Boulting, G.L.2    Bobrowicz, S.3
  • 5
    • 45249106162 scopus 로고    scopus 로고
    • Spinal muscular atrophy
    • Lunn MR, Wang CH. Spinal muscular atrophy. Lancet 2008; 371(9630): 2120-2133.
    • (2008) Lancet , vol.371 , Issue.9630 , pp. 2120-2133
    • Lunn, M.R.1    Wang, C.H.2
  • 6
    • 0033033434 scopus 로고    scopus 로고
    • A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
    • Lorson CL, Hahnen E, Androphy EJ, et al. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci USA 1999; 96(11): 6307-6311.
    • (1999) Proc Natl Acad Sci USA , vol.96 , Issue.11 , pp. 6307-6311
    • Lorson, C.L.1    Hahnen, E.2    Androphy, E.J.3
  • 7
    • 0030981541 scopus 로고    scopus 로고
    • Correlation between severity and SMN protein level in spinal muscular atrophy
    • Lefebvre S, Burlet P, Liu Q, et al. Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet 1997; 16(3): 265-269.
    • (1997) Nat Genet , vol.16 , Issue.3 , pp. 265-269
    • Lefebvre, S.1    Burlet, P.2    Liu, Q.3
  • 8
    • 58249110796 scopus 로고    scopus 로고
    • Induced pluripotent stem cells from a spinal muscular atrophy patient
    • Ebert AD, Yu J, Rose FF, et al. Induced pluripotent stem cells from a spinal muscular atrophy patient. Nature 2009; 457(7227): 277-280.
    • (2009) Nature , vol.457 , Issue.7227 , pp. 277-280
    • Ebert, A.D.1    Yu, J.2    Rose, F.F.3
  • 9
    • 78650031174 scopus 로고    scopus 로고
    • Huntington's disease: From molecular pathogenesis to clinical treatment
    • Ross CA, Tabrizi SJ. Huntington's disease: from molecular pathogenesis to clinical treatment. Lancet Neurol 2011; 10(1): 83-98.
    • (2011) Lancet Neurol , vol.10 , Issue.1 , pp. 83-98
    • Ross, C.A.1    Tabrizi, S.J.2
  • 10
    • 50549089957 scopus 로고    scopus 로고
    • Disease-specific induced pluripotent stem cells
    • Park IH, Arora N, Huo H, et al. Disease-specific induced pluripotent stem cells. Cell 2008; 134(5): 877-886.
    • (2008) Cell , vol.134 , Issue.5 , pp. 877-886
    • Park, I.H.1    Arora, N.2    Huo, H.3
  • 11
    • 84873337576 scopus 로고    scopus 로고
    • Characterization of Human Huntington's Disease Cell Model from Induced Pluripotent Stem Cells
    • RRN1193
    • Zhang N, An MC, Montoro D, et al. Characterization of Human Huntington's Disease Cell Model from Induced Pluripotent Stem Cells. PLoS Curr 2010; 2: RRN1193.
    • (2010) PLoS Curr , vol.2
    • Zhang, N.1    An, M.C.2    Montoro, D.3
  • 12
    • 0035746538 scopus 로고    scopus 로고
    • FMR1 and the fragile X syndrome: Human genome epidemiology review
    • Crawford DC, Acuna JM, Sherman SL. FMR1 and the fragile X syndrome: human genome epidemiology review. Genet Med 2001; 3(5): 359-371.
    • (2001) Genet Med , vol.3 , Issue.5 , pp. 359-371
    • Crawford, D.C.1    Acuna, J.M.2    Sherman, S.L.3
  • 13
    • 25844438495 scopus 로고    scopus 로고
    • Repeat instability: Mechanisms of dynamic mutations
    • Pearson CE, Nichol Edamura K, Cleary JD. Repeat instability: mechanisms of dynamic mutations. Nat Rev Genet 2005; 6(10): 729-742.
    • (2005) Nat Rev Genet , vol.6 , Issue.10 , pp. 729-742
    • Pearson, C.E.1    Nichol, E.K.2    Cleary, J.D.3
  • 14
    • 0025905795 scopus 로고
    • Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
    • Verkerk AJ, Pieretti M, Sutcliffe JS, et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991; 65(5): 905-914.
    • (1991) Cell , vol.65 , Issue.5 , pp. 905-914
    • Verkerk, A.J.1    Pieretti, M.2    Sutcliffe, J.S.3
  • 15
    • 35848937244 scopus 로고    scopus 로고
    • Developmental study of fragile X syndrome using human embryonic stem cells derived from preimplantation genetically diagnosed embryos
    • Eiges R, Urbach A, Malcov M, et al. Developmental study of fragile X syndrome using human embryonic stem cells derived from preimplantation genetically diagnosed embryos. Cell Stem Cell 2007; 1(5): 568-577.
    • (2007) Cell Stem Cell , vol.1 , Issue.5 , pp. 568-577
    • Eiges, R.1    Urbach, A.2    Malcov, M.3
  • 16
    • 77956214743 scopus 로고    scopus 로고
    • Differential modeling of fragile X syndrome by human embryonic stem cells and induced pluripotent stem cells
    • Urbach A, Bar-Nur O, Daley GQ, et al. Differential modeling of fragile X syndrome by human embryonic stem cells and induced pluripotent stem cells. Cell Stem Cell 2010; 6(5): 407-411.
    • (2010) Cell Stem Cell , vol.6 , Issue.5 , pp. 407-411
    • Urbach, A.1    Bar-Nur, O.2    Daley, G.Q.3
  • 17
    • 78049303170 scopus 로고    scopus 로고
    • Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader-Willi syndromes
    • USA
    • Chamberlain SJ, Chen PF, Ng KY, et al. Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader-Willi syndromes. Proc Natl Acad Sci USA 2010; 107(41): 17668-17673.
    • (2010) Proc Natl Acad Sci , vol.107 , Issue.41 , pp. 17668-17673
    • Chamberlain, S.J.1    Chen, P.F.2    Ng, K.Y.3
  • 18
    • 13344270899 scopus 로고    scopus 로고
    • Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
    • Campuzano V, Montermini L, Molto MD, et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996; 271(5254): 1423-1427.
    • (1996) Science , vol.271 , Issue.5254 , pp. 1423-1427
    • Campuzano, V.1    Montermini, L.2    Molto, M.D.3
  • 19
    • 65549101751 scopus 로고    scopus 로고
    • Chromatin remodeling in the noncoding repeat expansion diseases
    • Kumari D, Usdin K. Chromatin remodeling in the noncoding repeat expansion diseases. J Biol Chem 2009; 284(12): 7413-7417.
    • (2009) J Biol Chem , vol.284 , Issue.12 , pp. 7413-7417
    • Kumari, D.1    Usdin, K.2
  • 20
    • 79952814526 scopus 로고    scopus 로고
    • Friedreich's ataxia: Pathology, pathogenesis, and molecular genetics
    • Koeppen AH. Friedreich's ataxia: pathology, pathogenesis, and molecular genetics. J Neurol Sci 2011; 303(1-2): 1-12.
    • (2011) J Neurol Sci , vol.303 , Issue.1 , pp. 1-12
    • Koeppen, A.H.1
  • 21
    • 78049512763 scopus 로고    scopus 로고
    • Friedreich's ataxia induced pluripotent stem cells model intergenerational GAATTC triplet repeat instability
    • Ku S, Soragni E, Campau E, et al. Friedreich's ataxia induced pluripotent stem cells model intergenerational GAATTC triplet repeat instability. Cell Stem Cell 2010; 7(5): 631-637.
    • (2010) Cell Stem Cell , vol.7 , Issue.5 , pp. 631-637
    • Ku, S.1    Soragni, E.2    Campau, E.3
  • 22
    • 2542596183 scopus 로고    scopus 로고
    • Parkinson's disease
    • Samii A, Nutt JG, Ransom BR. Parkinson's disease. Lancet 2004; 363(9423): 1783-1793.
    • (2004) Lancet , vol.363 , Issue.9423 , pp. 1783-1793
    • Samii, A.1    Nutt, J.G.2    Ransom, B.R.3
  • 23
    • 33645755812 scopus 로고    scopus 로고
    • The Parkinson's complex: Parkinsonism is just the tip of the iceberg
    • Langston JW. The Parkinson's complex: parkinsonism is just the tip of the iceberg. Ann Neurol 2006; 59(4): 591-596.
    • (2006) Ann Neurol , vol.59 , Issue.4 , pp. 591-596
    • Langston, J.W.1
  • 24
    • 0141741347 scopus 로고    scopus 로고
    • Parkinson's disease: Mechanisms and models
    • Dauer W, Przedborski S. Parkinson's disease: mechanisms and models. Neuron 2003; 39(6): 889-909.
    • (2003) Neuron , vol.39 , Issue.6 , pp. 889-909
    • Dauer, W.1    Przedborski, S.2
  • 25
    • 61349100729 scopus 로고    scopus 로고
    • Parkinson's disease patient-derived induced pluripotent stem cells free of viral reprogramming factors
    • Soldner F, Hockemeyer D, Beard C, et al. Parkinson's disease patient-derived induced pluripotent stem cells free of viral reprogramming factors. Cell 2009; 136(5): 964-977.
    • (2009) Cell , vol.136 , Issue.5 , pp. 964-977
    • Soldner, F.1    Hockemeyer, D.2    Beard, C.3
  • 26
    • 77957670482 scopus 로고    scopus 로고
    • Differentiated Parkinson patient-derived induced pluripotent stem cells grow in the adult rodent brain and reduce motor asymmetry in Parkinsonian rats
    • USA
    • Hargus G, Cooper O, Deleidi M, et al. Differentiated Parkinson patient-derived induced pluripotent stem cells grow in the adult rodent brain and reduce motor asymmetry in Parkinsonian rats. Proc Natl Acad Sci USA; 107(36): 15921-15926.
    • Proc Natl Acad Sci , vol.107 , Issue.36 , pp. 15921-15926
    • Hargus, G.1    Cooper, O.2    Deleidi, M.3
  • 27
    • 8844266996 scopus 로고    scopus 로고
    • Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease
    • Paisan-Ruiz C, Jain S, Evans EW, et al. Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron 2004; 44(4): 595-600.
    • (2004) Neuron , vol.44 , Issue.4 , pp. 595-600
    • Paisan-Ruiz, C.1    Jain, S.2    Evans, E.W.3
  • 28
    • 9144261126 scopus 로고    scopus 로고
    • The PARK8 locus in autosomal dominant parkinsonism: Confirmation of linkage and further delineation of the disease-containing interval
    • Zimprich A, Muller-Myhsok B, Farrer M, et al. The PARK8 locus in autosomal dominant parkinsonism: confirmation of linkage and further delineation of the disease-containing interval. Am J Hum Genet 2004; 74(1): 11-19.
    • (2004) Am J Hum Genet , vol.74 , Issue.1 , pp. 11-19
    • Zimprich, A.1    Muller-Myhsok, B.2    Farrer, M.3
  • 29
    • 34548770783 scopus 로고    scopus 로고
    • LRRK2 low-penetrance mutations (Gly2019Ser) and risk alleles (Gly2385Arg)-linking familial and sporadic Parkinson's disease
    • Bonifati V. LRRK2 low-penetrance mutations (Gly2019Ser) and risk alleles (Gly2385Arg)-linking familial and sporadic Parkinson's disease. Neurochem Res 2007; 32(10): 1700-1708.
    • (2007) Neurochem Res , vol.32 , Issue.10 , pp. 1700-1708
    • Bonifati, V.1
  • 30
    • 35948952469 scopus 로고    scopus 로고
    • The roles of kinases in familial Parkinson's disease
    • Cookson MR, Dauer W, Dawson T, et al. The roles of kinases in familial Parkinson's disease. J Neurosci 2007; 27(44): 11865-11868.
    • (2007) J Neurosci , vol.27 , Issue.44 , pp. 11865-11868
    • Cookson, M.R.1    Dauer, W.2    Dawson, T.3
  • 31
    • 79952172335 scopus 로고    scopus 로고
    • LRRK2 mutant iPSC-derived DA neurons demonstrate increased susceptibility to oxidative stress
    • Nguyen HN, Byers B, Cord B, et al. LRRK2 mutant iPSC-derived DA neurons demonstrate increased susceptibility to oxidative stress. Cell Stem Cell 2011; 8(3): 267-280.
    • (2011) Cell Stem Cell , vol.8 , Issue.3 , pp. 267-280
    • Nguyen, H.N.1    Byers, B.2    Cord, B.3
  • 32
    • 2442668926 scopus 로고    scopus 로고
    • Hereditary early-onset Parkinson's disease caused by mutations in PINK1
    • Valente EM, Abou-Sleiman PM, Caputo V, et al. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 2004; 304(5674): 1158-1160.
    • (2004) Science , vol.304 , Issue.5674 , pp. 1158-1160
    • Valente, E.M.1    Abou-Sleiman, P.M.2    Caputo, V.3
  • 33
    • 0032499264 scopus 로고    scopus 로고
    • Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
    • Kitada T, Asakawa S, Hattori N, et al. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 1998; 392(6676): 605-608.
    • (1998) Nature , vol.392 , Issue.6676 , pp. 605-608
    • Kitada, T.1    Asakawa, S.2    Hattori, N.3
  • 34
    • 75749156257 scopus 로고    scopus 로고
    • PINK1 is selectively stabilized on impaired mitochondria to activate Parkin
    • e1000298
    • Narendra DP, Jin SM, Tanaka A, et al. PINK1 is selectively stabilized on impaired mitochondria to activate Parkin. PLoS Biol 2010; 8(1): e1000298.
    • (2010) PLoS Biol , vol.8 , Issue.1
    • Narendra, D.P.1    Jin, S.M.2    Tanaka, A.3
  • 35
    • 77955029885 scopus 로고    scopus 로고
    • Effect of endogenous mutant and wild-type PINK1 on Parkin in fibroblasts from Parkinson disease patients
    • Rakovic A, Grunewald A, Seibler P, et al. Effect of endogenous mutant and wild-type PINK1 on Parkin in fibroblasts from Parkinson disease patients. Hum Mol Genet 2010; 19(16): 3124-3137.
    • (2010) Hum Mol Genet , vol.19 , Issue.16 , pp. 3124-3137
    • Rakovic, A.1    Grunewald, A.2    Seibler, P.3
  • 36
    • 75949098487 scopus 로고    scopus 로고
    • PINK1-dependent recruitment of Parkin to mitochondria in mitophagy
    • USA
    • Vives-Bauza C, Zhou C, Huang Y, et al. PINK1-dependent recruitment of Parkin to mitochondria in mitophagy. Proc Natl Acad Sci USA 2010; 107(1): 378-383.
    • (2010) Proc Natl Acad Sci , vol.107 , Issue.1 , pp. 378-383
    • Vives-Bauza, C.1    Zhou, C.2    Huang, Y.3
  • 37
    • 79955786943 scopus 로고    scopus 로고
    • Mitochondrial Parkin Recruitment Is Impaired in Neurons Derived from Mutant PINK1 Induced Pluripotent Stem Cells
    • Seibler P, Graziotto J, Jeong H, et al. Mitochondrial Parkin Recruitment Is Impaired in Neurons Derived from Mutant PINK1 Induced Pluripotent Stem Cells. J Neurosci 2011; 31(16): 5970-5976.
    • (2011) J Neurosci , vol.31 , Issue.16 , pp. 5970-5976
    • Seibler, P.1    Graziotto, J.2    Jeong, H.3
  • 38
    • 33749247065 scopus 로고    scopus 로고
    • Transducer of regulated CREB-binding proteins (TORCs) induce PGC-1alpha transcription and mitochondrial biogenesis in muscle cells
    • USA
    • Wu Z, Huang X, Feng Y, et al. Transducer of regulated CREB-binding proteins (TORCs) induce PGC-1alpha transcription and mitochondrial biogenesis in muscle cells. Proc Natl Acad Sci USA 2006; 103(39): 14379-14384.
    • (2006) Proc Natl Acad Sci , vol.103 , Issue.39 , pp. 14379-14384
    • Wu, Z.1    Huang, X.2    Feng, Y.3
  • 39
    • 77954353059 scopus 로고    scopus 로고
    • Peroxisome proliferator-activated receptor gamma co-activator 1alpha (PGC-1alpha) and sirtuin 1 (SIRT1) reside in mitochondria: Possible direct function in mitochondrial biogenesis
    • Aquilano K, Vigilanza P, Baldelli S, et al. Peroxisome proliferator-activated receptor gamma co-activator 1alpha (PGC-1alpha) and sirtuin 1 (SIRT1) reside in mitochondria: possible direct function in mitochondrial biogenesis. J Biol Chem 2010; 285(28): 21590-21599.
    • (2010) J Biol Chem , vol.285 , Issue.28 , pp. 21590-21599
    • Aquilano, K.1    Vigilanza, P.2    Baldelli, S.3
  • 40
    • 27144493864 scopus 로고    scopus 로고
    • Rett syndrome: Model of neurodevelopmental disorders
    • Percy AK, Lane JB. Rett syndrome: model of neurodevelopmental disorders. J Child Neurol 2005; 20(9): 718-721.
    • (2005) J Child Neurol , vol.20 , Issue.9 , pp. 718-721
    • Percy, A.K.1    Lane, J.B.2
  • 41
    • 78149488365 scopus 로고    scopus 로고
    • A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cell
    • Marchetto MC, Carromeu C, Acab A, et al. A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells. Cell 2010; 143(4): 527-539.
    • (2010) Cell , vol.143 , Issue.4 , pp. 527-539
    • Marchetto, M.C.1    Carromeu, C.2    Acab, A.3
  • 42
    • 60549115413 scopus 로고    scopus 로고
    • Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice
    • USA
    • Tropea D, Giacometti E, Wilson NR, et al. Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice. Proc Natl Acad Sci USA 2009; 106(6): 2029-2034.
    • (2009) Proc Natl Acad Sci , vol.106 , Issue.6 , pp. 2029-2034
    • Tropea, D.1    Giacometti, E.2    Wilson, N.R.3
  • 43
    • 78549247463 scopus 로고    scopus 로고
    • L1 retrotransposition in neurons is modulated by MeCP2
    • Muotri AR, Marchetto MC, Coufal NG, et al. L1 retrotransposition in neurons is modulated by MeCP2. Nature 2010; 468(7322): 443-446.
    • (2010) Nature , vol.468 , Issue.7322 , pp. 443-446
    • Muotri, A.R.1    Marchetto, M.C.2    Coufal, N.G.3
  • 44
    • 0032102720 scopus 로고    scopus 로고
    • Mobile elements and disease
    • Kazazian HH,. Mobile elements and disease. Curr Opin Genet Dev 1998; 8(3): 343-350.
    • (1998) Curr Opin Genet Dev , vol.8 , Issue.3 , pp. 343-350
    • Kazazian, H.H.1
  • 45
    • 2442667886 scopus 로고    scopus 로고
    • Transcriptional disruption by the L1 retrotransposon and implications for mammalian transcriptomes
    • Han JS, Szak ST, Boeke JD. Transcriptional disruption by the L1 retrotransposon and implications for mammalian transcriptomes. Nature 2004; 429(6989): 268-274.
    • (2004) Nature , vol.429 , Issue.6989 , pp. 268-274
    • Han, J.S.1    Szak, S.T.2    Boeke, J.D.3
  • 46
    • 0344826526 scopus 로고    scopus 로고
    • RNA truncation by premature polyadenylation attenuates human mobile element activit
    • Perepelitsa-Belancio V, Deininger P. RNA truncation by premature polyadenylation attenuates human mobile element activity. Nat Genet 2003; 35(4): 363-366.
    • (2003) Nat Genet , vol.35 , Issue.4 , pp. 363-366
    • Perepelitsa-Belancio, V.1    Deininger, P.2
  • 47
    • 58149198244 scopus 로고    scopus 로고
    • The molecular basis of familial dysautonomia: Overview, new discoveries and implications for directed therapies
    • Rubin BY, Anderson SL. The molecular basis of familial dysautonomia: overview, new discoveries and implications for directed therapies. Neuromolecular Med 2008; 10(3) 148-156.
    • (2008) Neuromolecular Med , vol.10 , Issue.3 , pp. 148-156
    • Rubin, B.Y.1    Anderson, S.L.2
  • 48
    • 0035089807 scopus 로고    scopus 로고
    • Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia
    • Slaugenhaupt SA, Blumenfeld A, Gill SP, et al. Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Hum Genet 2001; 68(3): 598-605.
    • (2001) Am J Hum Genet , vol.68 , Issue.3 , pp. 598-605
    • Slaugenhaupt, S.A.1    Blumenfeld, A.2    Gill, S.P.3
  • 49
    • 0035097484 scopus 로고    scopus 로고
    • Familial dysautonomia is caused by mutations of the IKAP gene
    • Anderson SL, Coli R, Daly IW, et al. Familial dysautonomia is caused by mutations of the IKAP gene. Am J Hum Genet 2001; 68(3): 753-758.
    • (2001) Am J Hum Genet , vol.68 , Issue.3 , pp. 753-758
    • Anderson, S.L.1    Coli, R.2    Daly, I.W.3
  • 50
    • 1242353105 scopus 로고    scopus 로고
    • Rescue of a human mRNA splicing defect by the plant cytokinin kinetin
    • Slaugenhaupt SA, Mull J, Leyne M, et al. Rescue of a human mRNA splicing defect by the plant cytokinin kinetin. Hum Mol Genet 2004; 13(4): 429-436.
    • (2004) Hum Mol Genet , vol.13 , Issue.4 , pp. 429-436
    • Slaugenhaupt, S.A.1    Mull, J.2    Leyne, M.3
  • 51
    • 36849062137 scopus 로고    scopus 로고
    • Isolation and directed differentiation of neural crest stem cells derived from human embryonic stem cells
    • Lee G, Kim H, Elkabetz Y, et al. Isolation and directed differentiation of neural crest stem cells derived from human embryonic stem cells. Nat Biotechnol 2007; 25(12): 1468-1475.
    • (2007) Nat Biotechnol , vol.25 , Issue.12 , pp. 1468-1475
    • Lee, G.1    Kim, H.2    Elkabetz, Y.3
  • 52
    • 70349301819 scopus 로고    scopus 로고
    • Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs
    • Lee G, Papapetrou EP, Kim H, et al. Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs. Nature 2009; 461(7262): 402-406.
    • (2009) Nature , vol.461 , Issue.7262 , pp. 402-406
    • Lee, G.1    Papapetrou, E.P.2    Kim, H.3
  • 53
    • 33745034833 scopus 로고    scopus 로고
    • Transcription impairment and cell migration defects in elongator-depleted cells: Implication for familial dysautonomi
    • Close P, Hawkes N, Cornez I, et al. Transcription impairment and cell migration defects in elongator-depleted cells: implication for familial dysautonomia. Mol Cell 2006; 22(4): 521-531.
    • (2006) Mol Cell , vol.22 , Issue.4 , pp. 521-531
    • Close, P.1    Hawkes, N.2    Cornez, I.3
  • 54
    • 0344305525 scopus 로고    scopus 로고
    • Schizophrenia as a complex trait: Evidence from a meta-analysis of twin studies
    • Sullivan PF, Kendler KS, Neale MC. Schizophrenia as a complex trait: evidence from a meta-analysis of twin studies. Arch Gen Psychiatry 2003; 60(12): 1187-1192.
    • (2003) Arch Gen Psychiatry , vol.60 , Issue.12 , pp. 1187-1192
    • Sullivan, P.F.1    Kendler, K.S.2    Neale, M.C.3
  • 55
    • 0037870490 scopus 로고    scopus 로고
    • Schizophrenia: From phenomenology to neurobiology
    • Wong AH, Van Tol HH. Schizophrenia: from phenomenology to neurobiology. Neurosci Biobehav Rev 2003; 27(3): 269-306.
    • (2003) Neurosci Biobehav Rev , vol.27 , Issue.3 , pp. 269-306
    • Wong, A.H.1    van Tol, H.H.2
  • 56
    • 79955884485 scopus 로고    scopus 로고
    • Modelling schizophrenia using human induced pluripotent stem cells
    • Brennand KJ, Simone A, Jou J, et al. Modelling schizophrenia using human induced pluripotent stem cells. Nature 2011; 473(7346): 221-225.
    • (2011) Nature , vol.473 , Issue.7346 , pp. 221-225
    • Brennand, K.J.1    Simone, A.2    Jou, J.3
  • 57
    • 44649155688 scopus 로고    scopus 로고
    • Use of rabies virus as a transneuronal tracer of neuronal connections: Implications for the understanding of rabies pathogenesis
    • G. Use of rabies virus as a transneuronal tracer of neuronal connections: implications for the understanding of rabies pathogenesis. Dev Biol (Basel) 2008; 131: 493-506.
    • (2008) Dev Biol (Basel) , vol.131 , pp. 493-506
  • 58
    • 84870183737 scopus 로고    scopus 로고
    • Human amnion-derived cells as a reliable source of stem cells
    • Saito S, Lin YC, Murayama Y, et al. Human amnion-derived cells as a reliable source of stem cells. Curr Mol Med 2012; 12(10): 1340-1349.
    • (2012) Curr Mol Med , vol.12 , Issue.10 , pp. 1340-1349
    • Saito, S.1    Lin, Y.C.2    Murayama, Y.3
  • 59
    • 64749083939 scopus 로고    scopus 로고
    • Piggyback transposition reprograms fibroblasts to induced pluripotent stem cells
    • Woltjen K, Michael IP, Mohseni P, et al. piggyback transposition reprograms fibroblasts to induced pluripotent stem cells. Nature 2009; 458(7239): 766-770.
    • (2009) Nature , vol.458 , Issue.7239 , pp. 766-770
    • Woltjen, K.1    Michael, I.P.2    Mohseni, P.3
  • 60
    • 65649116572 scopus 로고    scopus 로고
    • Human induced pluripotent stem cells free of vector and transgene sequences
    • Yu J, Hu K, Smuga-Otto K, et al. Human induced pluripotent stem cells free of vector and transgene sequences. Science 2009; 324(5928): 797-801.
    • (2009) Science , vol.324 , Issue.5928 , pp. 797-801
    • Yu, J.1    Hu, K.2    Smuga-Otto, K.3
  • 61
    • 66049135249 scopus 로고    scopus 로고
    • Generation of induced pluripotent stem cells using recombinant proteins
    • Zhou H, Wu S, Joo JY, et al. Generation of induced pluripotent stem cells using recombinant proteins. Cell Stem Cell 2009; 4(5): 381-384.
    • (2009) Cell Stem Cell , vol.4 , Issue.5 , pp. 381-384
    • Zhou, H.1    Wu, S.2    Joo, J.Y.3
  • 62
    • 70450265981 scopus 로고    scopus 로고
    • Efficient induction of transgene-free human pluripotent stem cells using a vector based on Sendai virus, an RNA virus that does not integrate into the host genome
    • Fusaki N, Ban H, Nishiyama A, et al. Efficient induction of transgene-free human pluripotent stem cells using a vector based on Sendai virus, an RNA virus that does not integrate into the host genome. Proc Jpn Acad Ser B Phys Biol Sci 2009; 85(8): 348-362.
    • (2009) Proc Jpn Acad Ser B Phys Biol Sci , vol.85 , Issue.8 , pp. 348-362
    • Fusaki, N.1    Ban, H.2    Nishiyama, A.3
  • 63
    • 77957671713 scopus 로고    scopus 로고
    • Generation of induced pluripotent stem cells from human terminally differentiated circulating T cells
    • Seki T, Yuasa S, Oda M, et al. Generation of induced pluripotent stem cells from human terminally differentiated circulating T cells. Cell Stem Cell 2010; 7(1): 11-14.
    • (2010) Cell Stem Cell , vol.7 , Issue.1 , pp. 11-14
    • Seki, T.1    Yuasa, S.2    Oda, M.3
  • 64
    • 77958536106 scopus 로고    scopus 로고
    • Highly efficient reprogramming to pluripotency and directed differentiation of human cells with synthetic modified mRNA
    • Warren L, Manos PD, Ahfeldt T, et al. Highly efficient reprogramming to pluripotency and directed differentiation of human cells with synthetic modified mRNA. Cell Stem Cell 2010; 7(5): 618-630.
    • (2010) Cell Stem Cell , vol.7 , Issue.5 , pp. 618-630
    • Warren, L.1    Manos, P.D.2    Ahfeldt, T.3
  • 65
    • 33846879559 scopus 로고    scopus 로고
    • Adaptation to culture of human embryonic stem cells and oncogenesis in vivo
    • Baker DE, Harrison NJ, Maltby E, et al. Adaptation to culture of human embryonic stem cells and oncogenesis in vivo. Nat Biotechnol 2007; 25(2): 207-215.
    • (2007) Nat Biotechnol , vol.25 , Issue.2 , pp. 207-215
    • Baker, D.E.1    Harrison, N.J.2    Maltby, E.3
  • 66
    • 79952126043 scopus 로고    scopus 로고
    • Copy number variation and selection during reprogramming to pluripotency
    • Hussein SM, Batada NN, Vuoristo S, et al. Copy number variation and selection during reprogramming to pluripotency. Nature 2011; 471(7336): 58-62.
    • (2011) Nature , vol.471 , Issue.7336 , pp. 58-62
    • Hussein, S.M.1    Batada, N.N.2    Vuoristo, S.3
  • 67
    • 79952258224 scopus 로고    scopus 로고
    • Somatic coding mutations in human induced pluripotent stem cells
    • Gore A, Li Z, Fung HL, et al. Somatic coding mutations in human induced pluripotent stem cells. Nature 2011; 471(7336): 63-67.
    • (2011) Nature , vol.471 , Issue.7336 , pp. 63-67
    • Gore, A.1    Li, Z.2    Fung, H.L.3
  • 68
    • 79952264847 scopus 로고    scopus 로고
    • Hotspots of aberrant epigenomic reprogramming in human induced pluripotent stem cells
    • Lister R, Pelizzola M, Kida YS, et al. Hotspots of aberrant epigenomic reprogramming in human induced pluripotent stem cells. Nature 2011; 471(7336): 68-73.
    • (2011) Nature , vol.471 , Issue.7336 , pp. 68-73
    • Lister, R.1    Pelizzola, M.2    Kida, Y.S.3
  • 69
    • 77957334627 scopus 로고    scopus 로고
    • Identification and classification of chromosomal aberrations in human induced pluripotent stem cells
    • Mayshar Y, Ben-David U, Lavon N, et al. Identification and classification of chromosomal aberrations in human induced pluripotent stem cells. Cell Stem Cell 2010; 7(4): 521-531.
    • (2010) Cell Stem Cell , vol.7 , Issue.4 , pp. 521-531
    • Mayshar, Y.1    Ben-David, U.2    Lavon, N.3
  • 70
    • 78650971216 scopus 로고    scopus 로고
    • Dynamic changes in the copy number of pluripotency and cell proliferation genes in human ESCs and iPSCs during reprogramming and time in culture
    • Laurent LC, Ulitsky I, Slavin I, et al. Dynamic changes in the copy number of pluripotency and cell proliferation genes in human ESCs and iPSCs during reprogramming and time in culture. Cell Stem Cell 2011; 8(1): 106-118.
    • (2011) Cell Stem Cell , vol.8 , Issue.1 , pp. 106-118
    • Laurent, L.C.1    Ulitsky, I.2    Slavin, I.3
  • 71
    • 72849144528 scopus 로고    scopus 로고
    • Clone- and gene-specific aberrations of parental imprinting in human induced pluripotent stem cells
    • Pick M, Stelzer Y, Bar-Nur O, et al. Clone- and gene-specific aberrations of parental imprinting in human induced pluripotent stem cells. Stem Cells 2009; 27(11): 2686-2690.
    • (2009) Stem Cells , vol.27 , Issue.11 , pp. 2686-2690
    • Pick, M.1    Stelzer, Y.2    Bar-Nur, O.3
  • 72
    • 77749279749 scopus 로고    scopus 로고
    • Neural differentiation of human induced pluripotent stem cells follows developmental principles but with variable potency
    • Hu BY, Weick JP, Yu J, et al. Neural differentiation of human induced pluripotent stem cells follows developmental principles but with variable potency. Proc Natl Acad Sci USA 2010; 107(9): 4335-4340.
    • (2010) Proc Natl Acad Sci USA , vol.107 , Issue.9 , pp. 4335-4340
    • Hu, B.Y.1    Weick, J.P.2    Yu, J.3
  • 73
    • 79551665440 scopus 로고    scopus 로고
    • A functionally characterized test set of human induced pluripotent stem cells
    • Boulting GL, Kiskinis E, Croft GF, et al. A functionally characterized test set of human induced pluripotent stem cells. Nat Biotechnol 2011; 29(3): 279-286.
    • (2011) Nat Biotechnol , vol.29 , Issue.3 , pp. 279-286
    • Boulting, G.L.1    Kiskinis, E.2    Croft, G.F.3
  • 74
    • 79551677421 scopus 로고    scopus 로고
    • Reference Maps of human ES and iPS cell variation enable high-throughput characterization of pluripotent cell lines
    • Bock C, Kiskinis E, Verstappen G, et al. Reference Maps of human ES and iPS cell variation enable high-throughput characterization of pluripotent cell lines. Cell 2011; 144(3): 439-452.
    • (2011) Cell , vol.144 , Issue.3 , pp. 439-452
    • Bock, C.1    Kiskinis, E.2    Verstappen, G.3
  • 75
    • 84862971294 scopus 로고    scopus 로고
    • Direct conversion of dermal fibroblasts into neural progenitor cells by a novel cocktail of defined factors
    • Tian C, Ambroz RJ, Sun L, et al. Direct conversion of dermal fibroblasts into neural progenitor cells by a novel cocktail of defined factors. Curr Mol Med 2012; 12(2): 126-137.
    • (2012) Curr Mol Med , vol.12 , Issue.2 , pp. 126-137
    • Tian, C.1    Ambroz, R.J.2    Sun, L.3
  • 76
    • 70249114821 scopus 로고    scopus 로고
    • Efficient targeting of expressed and silent genes in human ESCs and iPSCs using zinc-finger nucleases
    • Hockemeyer D, Soldner F, Beard C, et al. Efficient targeting of expressed and silent genes in human ESCs and iPSCs using zinc-finger nucleases. Nat Biotechnol 2009; 27(9): 851-857.
    • (2009) Nat Biotechnol , vol.27 , Issue.9 , pp. 851-857
    • Hockemeyer, D.1    Soldner, F.2    Beard, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.