-
1
-
-
80155144126
-
Induced pluripotent stem cells (IPSCs) and neurological disease modeling: Progress and promises.
-
Marchetto, M. C., Brennand, K. J., Boyer, L. F., Gage, F. H., Induced pluripotent stem cells (IPSCs) and neurological disease modeling: Progress and promises. Hum. Mol. Genet. 2011, 20, R109-115.
-
(2011)
Hum. Mol. Genet.
, vol.20
-
-
Marchetto, M.C.1
Brennand, K.J.2
Boyer, L.F.3
Gage, F.H.4
-
2
-
-
36248966518
-
Induction of pluripotent stem cells from adult human fibroblasts by defined factors.
-
Takahashi, K., Tanabe, K., Ohnuki, M., Narita, M. et al., Induction of pluripotent stem cells from adult human fibroblasts by defined factors. Cell 2007, 131, 861-872.
-
(2007)
Cell
, vol.131
, pp. 861-872
-
-
Takahashi, K.1
Tanabe, K.2
Ohnuki, M.3
Narita, M.4
-
3
-
-
36749043230
-
Induced pluripotent stem cell lines derived from human somatic cells.
-
Yu, J., Vodyanik, M. A., Smuga-Otto, K., Antosiewicz-Bourget, J. et al., Induced pluripotent stem cell lines derived from human somatic cells. Science 2007, 318, 1917-1920.
-
(2007)
Science
, vol.318
, pp. 1917-1920
-
-
Yu, J.1
Vodyanik, M.A.2
Smuga-Otto, K.3
Antosiewicz-Bourget, J.4
-
4
-
-
77955449906
-
Epigenetic memory in induced pluripotent stem cells.
-
Kim, K., Doi, A., Wen, B., Ng, K. et al., Epigenetic memory in induced pluripotent stem cells. Nature 2010, 467, 285-290
-
(2010)
Nature
, vol.467
, pp. 285-290
-
-
Kim, K.1
Doi, A.2
Wen, B.3
Ng, K.4
-
5
-
-
55849117368
-
Generation of mouse induced pluripotent stem cells without viral vectors.
-
Okita, K., Nakagawa, M., Hyenjong, H., Ichisaka, T., Yamanaka, S., Generation of mouse induced pluripotent stem cells without viral vectors. Science 2008, 322, 949-953.
-
(2008)
Science
, vol.322
, pp. 949-953
-
-
Okita, K.1
Nakagawa, M.2
Hyenjong, H.3
Ichisaka, T.4
Yamanaka, S.5
-
6
-
-
64749083939
-
Piggybac transposition reprograms fibroblasts to induced pluripotent stem cells.
-
Woltjen, K., Michael, I. P., Mohseni, P., Desai, R. et al., Piggybac transposition reprograms fibroblasts to induced pluripotent stem cells. Nature 2009, 458, 766-770.
-
(2009)
Nature
, vol.458
, pp. 766-770
-
-
Woltjen, K.1
Michael, I.P.2
Mohseni, P.3
Desai, R.4
-
7
-
-
77649275936
-
A nonviral minicircle vector for deriving human ips cells.
-
Jia, F., Wilson, K. D., Sun, N., Gupta, D. M. et al., A nonviral minicircle vector for deriving human ips cells. Nat. Meth. 2010, 7, 197-199.
-
(2010)
Nat. Meth.
, vol.7
, pp. 197-199
-
-
Jia, F.1
Wilson, K.D.2
Sun, N.3
Gupta, D.M.4
-
8
-
-
66049143859
-
Generation of human induced pluripotent stem cells by direct delivery of reprogramming proteins.
-
Kim, D., Kim, C. H., Moon, J. I., Chung, Y. G. et al., Generation of human induced pluripotent stem cells by direct delivery of reprogramming proteins. Cell Stem Cell 2009, 4, 472-476.
-
(2009)
Cell Stem Cell
, vol.4
, pp. 472-476
-
-
Kim, D.1
Kim, C.H.2
Moon, J.I.3
Chung, Y.G.4
-
9
-
-
80052157957
-
Efficient generation of transgene-free human induced pluripotent stem cells (iPSCs) by temperature-sensitive sendai virus vectors.
-
Ban, H., Nishishita, N., Fusaki, N., Tabata, T. et al., Efficient generation of transgene-free human induced pluripotent stem cells (iPSCs) by temperature-sensitive sendai virus vectors. Proc. Nat. Acad. Sci. USA 2011, 108, 14234-14239.
-
(2011)
Proc. Nat. Acad. Sci. USA
, vol.108
, pp. 14234-14239
-
-
Ban, H.1
Nishishita, N.2
Fusaki, N.3
Tabata, T.4
-
10
-
-
79955634826
-
A more efficient method to generate integration-free human iPS cells.
-
Okita, K., Matsumura, Y., Sato, Y., Okada, A. et al., A more efficient method to generate integration-free human iPS cells. Nat. Meth. 2011, 8, 409-412.
-
(2011)
Nat. Meth.
, vol.8
, pp. 409-412
-
-
Okita, K.1
Matsumura, Y.2
Sato, Y.3
Okada, A.4
-
11
-
-
77958536106
-
Highly efficient reprogramming to pluripotency and directed differentiation of human cells with synthetic modified mRNA.
-
Warren, L., Manos, P. D., Ahfeldt, T., Loh, Y. H. et al., Highly efficient reprogramming to pluripotency and directed differentiation of human cells with synthetic modified mRNA. Cell Stem Cell 2010, 7, 618-630.
-
(2010)
Cell Stem Cell
, vol.7
, pp. 618-630
-
-
Warren, L.1
Manos, P.D.2
Ahfeldt, T.3
Loh, Y.H.4
-
12
-
-
84881256653
-
Pluripotent stem cells induced from mouse somatic cells by small-molecule compounds.
-
Hou, P., Li, Y., Zhang, X., Liu, C. et al., Pluripotent stem cells induced from mouse somatic cells by small-molecule compounds. Science 2013, 341, 651-654.
-
(2013)
Science
, vol.341
, pp. 651-654
-
-
Hou, P.1
Li, Y.2
Zhang, X.3
Liu, C.4
-
13
-
-
46449094276
-
Dissecting direct reprogramming through integrative genomic analysis.
-
Mikkelsen, T. S., Hanna, J., Zhang, X., Ku, M. et al., Dissecting direct reprogramming through integrative genomic analysis. Nature 2008, 454, 49-55.
-
(2008)
Nature
, vol.454
, pp. 49-55
-
-
Mikkelsen, T.S.1
Hanna, J.2
Zhang, X.3
Ku, M.4
-
14
-
-
77952699848
-
Human embryonic stem cells with biological and epigenetic characteristics similar to those of mouse ESCs.
-
Hanna, J., Cheng, A. W., Saha, K., Kim, J. et al., Human embryonic stem cells with biological and epigenetic characteristics similar to those of mouse ESCs. Proc. Nat. Acad. Sci. USA 2010, 107, 9222-9227.
-
(2010)
Proc. Nat. Acad. Sci. USA
, vol.107
, pp. 9222-9227
-
-
Hanna, J.1
Cheng, A.W.2
Saha, K.3
Kim, J.4
-
15
-
-
55749104227
-
Induction of pluripotent stem cells from primary human fibroblasts with only Oct4 and Sox2.
-
Huangfu, D., Osafune, K., Maehr, R., Guo, W. et al., Induction of pluripotent stem cells from primary human fibroblasts with only Oct4 and Sox2. Nat. Biotechnol. 2008, 26, 1269-1275.
-
(2008)
Nat. Biotechnol.
, vol.26
, pp. 1269-1275
-
-
Huangfu, D.1
Osafune, K.2
Maehr, R.3
Guo, W.4
-
16
-
-
73049112178
-
Vitamin C enhances the generation of mouse and human induced pluripotent stem cells.
-
Esteban, M. A., Wang, T., Qin, B., Yang, J. et al., Vitamin C enhances the generation of mouse and human induced pluripotent stem cells. Cell Stem Cell 2010, 6, 71-79.
-
(2010)
Cell Stem Cell
, vol.6
, pp. 71-79
-
-
Esteban, M.A.1
Wang, T.2
Qin, B.3
Yang, J.4
-
17
-
-
77950965653
-
Butyrate greatly enhances derivation of human induced pluripotent stem cells by promoting epigenetic remodeling and the expression of pluripotency-associated genes.
-
Mali, P., Chou, B. K., Yen, J., Ye, Z. et al., Butyrate greatly enhances derivation of human induced pluripotent stem cells by promoting epigenetic remodeling and the expression of pluripotency-associated genes. Stem Cells 2010, 28, 713-720.
-
(2010)
Stem Cells
, vol.28
, pp. 713-720
-
-
Mali, P.1
Chou, B.K.2
Yen, J.3
Ye, Z.4
-
18
-
-
77956638256
-
Generation of human induced pluripotent stem cells from liver progenitor cells by only small molecules.
-
author reply 1169
-
Moriguchi, H., Chung, R. T., Mihara, M., Sato, C., Generation of human induced pluripotent stem cells from liver progenitor cells by only small molecules. Hepatology 2010, 52, 1169; author reply 1169-1170.
-
(2010)
Hepatology
, vol.52
, pp. 1169-1170
-
-
Moriguchi, H.1
Chung, R.T.2
Mihara, M.3
Sato, C.4
-
19
-
-
80052819789
-
Rapamycin and other longevity-promoting compounds enhance the generation of mouse induced pluripotent stem cells.
-
Chen, T., Shen, L., Yu, J., Wan, H. et al., Rapamycin and other longevity-promoting compounds enhance the generation of mouse induced pluripotent stem cells. Aging Cell 2011, 10, 908-911.
-
(2011)
Aging Cell
, vol.10
, pp. 908-911
-
-
Chen, T.1
Shen, L.2
Yu, J.3
Wan, H.4
-
20
-
-
80053633785
-
Lithium, an anti-psychotic drug, greatly enhances the generation of induced pluripotent stem cells.
-
Wang, Q., Xu, X., Li, J., Liu, J. et al., Lithium, an anti-psychotic drug, greatly enhances the generation of induced pluripotent stem cells. Cell Res. 2011, 21, 1424-1435.
-
(2011)
Cell Res.
, vol.21
, pp. 1424-1435
-
-
Wang, Q.1
Xu, X.2
Li, J.3
Liu, J.4
-
21
-
-
54949136146
-
Two supporting factors greatly improve the efficiency of human ipsc generation.
-
Zhao, Y., Yin, X., Qin, H., Zhu, F. et al., Two supporting factors greatly improve the efficiency of human ipsc generation. Cell Stem Cell 2008, 3, 475-479.
-
(2008)
Cell Stem Cell
, vol.3
, pp. 475-479
-
-
Zhao, Y.1
Yin, X.2
Qin, H.3
Zhu, F.4
-
22
-
-
77955818622
-
Robust activation of the human but not mouse telomerase gene during the induction of pluripotency.
-
Mathew, R., Jia, W., Sharma, A., Zhao, Y. et al., Robust activation of the human but not mouse telomerase gene during the induction of pluripotency. FASEB J. 2010, 24, 2702-2715.
-
(2010)
FASEB J.
, vol.24
, pp. 2702-2715
-
-
Mathew, R.1
Jia, W.2
Sharma, A.3
Zhao, Y.4
-
23
-
-
84866369892
-
Single-cell expression analyses during cellular reprogramming reveal an early stochastic and a late hierarchic phase.
-
Buganim, Y., Faddah, D. A., Cheng, A. W., Itskovich, E. et al., Single-cell expression analyses during cellular reprogramming reveal an early stochastic and a late hierarchic phase. Cell 2012, 150, 1209-1222.
-
(2012)
Cell
, vol.150
, pp. 1209-1222
-
-
Buganim, Y.1
Faddah, D.A.2
Cheng, A.W.3
Itskovich, E.4
-
24
-
-
84885619736
-
Deterministic direct reprogramming of somatic cells to pluripotency.
-
Rais, Y., Zviran, A., Geula, S., Gafni, O. et al., Deterministic direct reprogramming of somatic cells to pluripotency. Nature 2013, 502, 65-70.
-
(2013)
Nature
, vol.502
, pp. 65-70
-
-
Rais, Y.1
Zviran, A.2
Geula, S.3
Gafni, O.4
-
25
-
-
0032491416
-
Embryonic stem cell lines derived from human blastocysts.
-
Thomson, J. A., Itskovitz-Eldor, J., Shapiro, S. S., Waknitz, M. A. et al., Embryonic stem cell lines derived from human blastocysts. Science 1998, 282, 1145-1147.
-
(1998)
Science
, vol.282
, pp. 1145-1147
-
-
Thomson, J.A.1
Itskovitz-Eldor, J.2
Shapiro, S.S.3
Waknitz, M.A.4
-
26
-
-
72149110399
-
Breaking the code of DNA binding specificity of TAL-type III effectors.
-
Boch, J., Scholze, H., Schornack, S., Landgraf, A. et al., Breaking the code of DNA binding specificity of TAL-type III effectors. Science 2009, 326, 1509-1512.
-
(2009)
Science
, vol.326
, pp. 1509-1512
-
-
Boch, J.1
Scholze, H.2
Schornack, S.3
Landgraf, A.4
-
27
-
-
84861170955
-
A transcription activator-like effector toolbox for genome engineering.
-
Sanjana, N. E., Cong, L., Zhou, Y., Cunniff, M. M. et al., A transcription activator-like effector toolbox for genome engineering. Nat. Protoc. 2012, 7, 171-192.
-
(2012)
Nat. Protoc.
, vol.7
, pp. 171-192
-
-
Sanjana, N.E.1
Cong, L.2
Zhou, Y.3
Cunniff, M.M.4
-
28
-
-
84873734105
-
RNA-guided human genome engineering via cas9.
-
Mali, P., Yang, L., Esvelt, K. M., Aach, J. et al., RNA-guided human genome engineering via cas9. Science 2013, 339, 823-826.
-
(2013)
Science
, vol.339
, pp. 823-826
-
-
Mali, P.1
Yang, L.2
Esvelt, K.M.3
Aach, J.4
-
29
-
-
84878852415
-
Modeling human disease with pluripotent stem cells: From genome association to function.
-
Merkle, F. T., Eggan, K., Modeling human disease with pluripotent stem cells: From genome association to function. Cell Stem Cell 2013, 12, 656-668.
-
(2013)
Cell Stem Cell
, vol.12
, pp. 656-668
-
-
Merkle, F.T.1
Eggan, K.2
-
30
-
-
37549030199
-
Treatment of sickle cell anemia mouse model with iPS cells generated from autologous skin.
-
Hanna, J., Wernig, M., Markoulaki, S., Sun, C. W. et al., Treatment of sickle cell anemia mouse model with iPS cells generated from autologous skin. Science 2007, 318, 1920-1923.
-
(2007)
Science
, vol.318
, pp. 1920-1923
-
-
Hanna, J.1
Wernig, M.2
Markoulaki, S.3
Sun, C.W.4
-
31
-
-
79960833952
-
Generation of isogenic pluripotent stem cells differing exclusively at two early onset Parkinson point mutations.
-
Soldner, F., Laganiere, J., Cheng, A. W., Hockemeyer, D. et al., Generation of isogenic pluripotent stem cells differing exclusively at two early onset Parkinson point mutations. Cell 2011, 146, 318-331.
-
(2011)
Cell
, vol.146
, pp. 318-331
-
-
Soldner, F.1
Laganiere, J.2
Cheng, A.W.3
Hockemeyer, D.4
-
32
-
-
84890033064
-
Functional repair of cftr by CRISPR/Cas9 in intestinal stem cell organoids of cystic fibrosis patients.
-
Schwank, G., Koo, B. K., Sasselli, V., Dekkers, J. F. et al., Functional repair of cftr by CRISPR/Cas9 in intestinal stem cell organoids of cystic fibrosis patients. Cell Stem Cell 2013, 13, 653-658.
-
(2013)
Cell Stem Cell
, vol.13
, pp. 653-658
-
-
Schwank, G.1
Koo, B.K.2
Sasselli, V.3
Dekkers, J.F.4
-
33
-
-
79957807595
-
Immunogenicity of induced pluripotent stem cells.
-
Zhao, T., Zhang, Z. N., Rong, Z., Xu, Y., Immunogenicity of induced pluripotent stem cells. Nature 2011, 474, 212-215.
-
(2011)
Nature
, vol.474
, pp. 212-215
-
-
Zhao, T.1
Zhang, Z.N.2
Rong, Z.3
Xu, Y.4
-
34
-
-
84875811124
-
Induced pluripotent stem cell-derived neural cells survive and mature in the nonhuman primate brain.
-
Emborg, M. E., Liu, Y., Xi, J., Zhang, X. et al., Induced pluripotent stem cell-derived neural cells survive and mature in the nonhuman primate brain. Cell Rep. 2013, 3, 646-650.
-
(2013)
Cell Rep.
, vol.3
, pp. 646-650
-
-
Emborg, M.E.1
Liu, Y.2
Xi, J.3
Zhang, X.4
-
35
-
-
84874682918
-
Negligible immunogenicity of terminally differentiated cells derived from induced pluripotent or embryonic stem cells.
-
Araki, R., Uda, M., Hoki, Y., Sunayama, M. et al., Negligible immunogenicity of terminally differentiated cells derived from induced pluripotent or embryonic stem cells. Nature 2013, 494, 100-104.
-
(2013)
Nature
, vol.494
, pp. 100-104
-
-
Araki, R.1
Uda, M.2
Hoki, Y.3
Sunayama, M.4
-
36
-
-
84903814240
-
-
Takahashi M., Pilot clinical study into iPS cell therapy for eye disease starts in Japan. RIKEN Press Release 2013.
-
Takahashi M., Pilot clinical study into iPS cell therapy for eye disease starts in Japan. RIKEN Press Release 2013.
-
-
-
-
37
-
-
84877935484
-
Developing rods transplanted into the degenerating retina of Crx-knockout mice exhibit neural activity similar to native photoreceptors.
-
Homma, K., Okamoto, S., Mandai, M., Gotoh, N. et al., Developing rods transplanted into the degenerating retina of Crx-knockout mice exhibit neural activity similar to native photoreceptors. Stem Cells 2013, 31, 1149-1159.
-
(2013)
Stem Cells
, vol.31
, pp. 1149-1159
-
-
Homma, K.1
Okamoto, S.2
Mandai, M.3
Gotoh, N.4
-
38
-
-
84893748014
-
Characterization of human induced pluripotent stem cell-derived retinal pigment epithelium cell sheets aiming for clinical application.
-
Kamao, H., Mandai, M., Okamoto, S., Sakai, N. et al., Characterization of human induced pluripotent stem cell-derived retinal pigment epithelium cell sheets aiming for clinical application. Stem Cell Reports 2014, 2, 205-218.
-
(2014)
Stem Cell Reports
, vol.2
, pp. 205-218
-
-
Kamao, H.1
Mandai, M.2
Okamoto, S.3
Sakai, N.4
-
39
-
-
84857643783
-
Embryonic stem cell trials for macular degeneration: A preliminary report.
-
Schwartz, S. D., Hubschman, J. P., Heilwell, G., Franco-Cardenas, V. et al., Embryonic stem cell trials for macular degeneration: A preliminary report. Lancet 2012, 379, 713-720.
-
(2012)
Lancet
, vol.379
, pp. 713-720
-
-
Schwartz, S.D.1
Hubschman, J.P.2
Heilwell, G.3
Franco-Cardenas, V.4
-
40
-
-
84877301288
-
Functional maturation of hPSC-derived forebrain interneurons requires an extended timeline and mimics human neural development.
-
Nicholas, C. R., Chen, J., Tang, Y., Southwell, D. G. et al., Functional maturation of hPSC-derived forebrain interneurons requires an extended timeline and mimics human neural development. Cell Stem Cell 2013, 12, 573-586.
-
(2013)
Cell Stem Cell
, vol.12
, pp. 573-586
-
-
Nicholas, C.R.1
Chen, J.2
Tang, Y.3
Southwell, D.G.4
-
41
-
-
0032830639
-
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.
-
Amir, R. E., Van den Veyver, I. B., Wan, M., Tran, C. Q. et al., Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat. Genet. 1999, 23, 185-188.
-
(1999)
Nat. Genet.
, vol.23
, pp. 185-188
-
-
Amir, R.E.1
Van den Veyver, I.B.2
Wan, M.3
Tran, C.Q.4
-
42
-
-
0020507697
-
A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases.
-
Hagberg, B., Aicardi, J., Dias, K., Ramos, O., A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases. Ann. Neurol. 1983, 14, 471-479.
-
(1983)
Ann. Neurol.
, vol.14
, pp. 471-479
-
-
Hagberg, B.1
Aicardi, J.2
Dias, K.3
Ramos, O.4
-
43
-
-
79955602167
-
Isolation of MECP2-null Rett syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation.
-
Cheung, A. Y., Horvath, L. M., Grafodatskaya, D., Pasceri, P. et al., Isolation of MECP2-null Rett syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation. Hum. Mol. Genet. 2011, 20, 2103-2115.
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 2103-2115
-
-
Cheung, A.Y.1
Horvath, L.M.2
Grafodatskaya, D.3
Pasceri, P.4
-
44
-
-
80052155858
-
Neuronal maturation defect in induced pluripotent stem cells from patients with Rett syndrome.
-
Kim, K. Y., Hysolli, E., Park, I. H., Neuronal maturation defect in induced pluripotent stem cells from patients with Rett syndrome. Proc. Nat. Acad. Sci. USA 2011, 108, 14169-14174.
-
(2011)
Proc. Nat. Acad. Sci. USA
, vol.108
, pp. 14169-14174
-
-
Kim, K.Y.1
Hysolli, E.2
Park, I.H.3
-
45
-
-
78149488365
-
A model for neural development and treatment of rett syndrome using human induced pluripotent stem cells.
-
Marchetto, M. C., Carromeu, C., Acab, A., Yu, D. et al., A model for neural development and treatment of rett syndrome using human induced pluripotent stem cells. Cell 2010, 143, 527-539.
-
(2010)
Cell
, vol.143
, pp. 527-539
-
-
Marchetto, M.C.1
Carromeu, C.2
Acab, A.3
Yu, D.4
-
46
-
-
77955271952
-
Line-1 retrotransposons: Mediators of somatic variation in neuronal genomes?
-
Singer, T., McConnell, M. J., Marchetto, M. C., Coufal, N. G., Gage, F. H., Line-1 retrotransposons: Mediators of somatic variation in neuronal genomes? Trends Neurosci. 2010, 33, 345-354.
-
(2010)
Trends Neurosci.
, vol.33
, pp. 345-354
-
-
Singer, T.1
McConnell, M.J.2
Marchetto, M.C.3
Coufal, N.G.4
Gage, F.H.5
-
47
-
-
78549247463
-
L1 retrotransposition in neurons is modulated by Mecp2.
-
Muotri, A. R., Marchetto, M. C., Coufal, N. G., Oefner, R. et al., L1 retrotransposition in neurons is modulated by Mecp2. Nature 2010, 468, 443-446.
-
(2010)
Nature
, vol.468
, pp. 443-446
-
-
Muotri, A.R.1
Marchetto, M.C.2
Coufal, N.G.3
Oefner, R.4
-
48
-
-
24644507039
-
Microcephalin, a gene regulating brain size, continues to evolve adaptively in humans.
-
Evans, P. D., Gilbert, S. L., Mekel-Bobrov, N., Vallender, E. J. et al., Microcephalin, a gene regulating brain size, continues to evolve adaptively in humans. Science 2005, 309, 1717-1720.
-
(2005)
Science
, vol.309
, pp. 1717-1720
-
-
Evans, P.D.1
Gilbert, S.L.2
Mekel-Bobrov, N.3
Vallender, E.J.4
-
49
-
-
81455141449
-
iPS cells to model Cdkl5-related disorders.
-
Amenduni, M., De Filippis, R., Cheung, A. Y., Disciglio, V. et al., iPS cells to model Cdkl5-related disorders. Eur. J. Human. Genet. 2011, 19, 1246-1255.
-
(2011)
Eur. J. Human. Genet.
, vol.19
, pp. 1246-1255
-
-
Amenduni, M.1
De Filippis, R.2
Cheung, A.Y.3
Disciglio, V.4
-
50
-
-
0028904864
-
Triplet repeat expansion mutations: The example of fragile x syndrome.
-
Warren, S. T., Ashley, C. T. Jr., Triplet repeat expansion mutations: The example of fragile x syndrome. Ann. Rev. Neurosci. 1995, 18, 77-99.
-
(1995)
Ann. Rev. Neurosci.
, vol.18
, pp. 77-99
-
-
Warren, S.T.1
Ashley Jr., C.T.2
-
51
-
-
44449084899
-
Fragile x syndrome.
-
Garber, K. B., Visootsak, J., Warren, S. T., Fragile x syndrome. Eur. J. Hum. Genet. 2008, 16, 666-672.
-
(2008)
Eur. J. Hum. Genet.
, vol.16
, pp. 666-672
-
-
Garber, K.B.1
Visootsak, J.2
Warren, S.T.3
-
52
-
-
35848937244
-
Developmental study of fragile X syndrome using human embryonic stem cells derived from preimplantation genetically diagnosed embryos.
-
Eiges, R., Urbach, A., Malcov, M., Frumkin, T. et al., Developmental study of fragile X syndrome using human embryonic stem cells derived from preimplantation genetically diagnosed embryos. Cell Stem Cell 2007, 1, 568-577.
-
(2007)
Cell Stem Cell
, vol.1
, pp. 568-577
-
-
Eiges, R.1
Urbach, A.2
Malcov, M.3
Frumkin, T.4
-
53
-
-
77956214743
-
Differential modeling of fragile X syndrome by human embryonic stem cells and induced pluripotent stem cells.
-
Urbach, A., Bar-Nur, O., Daley, G. Q., Benvenisty, N., Differential modeling of fragile X syndrome by human embryonic stem cells and induced pluripotent stem cells. Cell Stem Cell 2010, 6, 407-411.
-
(2010)
Cell Stem Cell
, vol.6
, pp. 407-411
-
-
Urbach, A.1
Bar-Nur, O.2
Daley, G.Q.3
Benvenisty, N.4
-
54
-
-
80053948646
-
Epigenetic characterization of the FMR1 gene and aberrant neurodevelopment in human induced pluripotent stem cell models of fragile x syndrome.
-
Sheridan, S. D., Theriault, K. M., Reis, S. A., Zhou, F. et al., Epigenetic characterization of the FMR1 gene and aberrant neurodevelopment in human induced pluripotent stem cell models of fragile x syndrome. PLoS One 2011, 6, e26203.
-
(2011)
PLoS One
, vol.6
-
-
Sheridan, S.D.1
Theriault, K.M.2
Reis, S.A.3
Zhou, F.4
-
55
-
-
33748959040
-
The challenge of down syndrome.
-
Antonarakis, S. E., Epstein, C. J., The challenge of down syndrome. Trends Mol. Med. 2006, 12, 473-479.
-
(2006)
Trends Mol. Med.
, vol.12
, pp. 473-479
-
-
Antonarakis, S.E.1
Epstein, C.J.2
-
56
-
-
5044234361
-
Chromosome 21 and down syndrome: From genomics to pathophysiology.
-
Antonarakis, S. E., Lyle, R., Dermitzakis, E. T., Reymond, A., Deutsch, S., Chromosome 21 and down syndrome: From genomics to pathophysiology. Nature Rev. Genet. 2004, 5, 725-738.
-
(2004)
Nature Rev. Genet.
, vol.5
, pp. 725-738
-
-
Antonarakis, S.E.1
Lyle, R.2
Dermitzakis, E.T.3
Reymond, A.4
Deutsch, S.5
-
57
-
-
84863229339
-
A human stem cell model of early alzheimer's disease pathology in down syndrome.
-
Shi, Y., Kirwan, P., Smith, J., MacLean, G. et al., A human stem cell model of early alzheimer's disease pathology in down syndrome. Sci. Transl. Med. 2012, 4, 124ra129.
-
(2012)
Sci. Transl. Med.
, vol.4
-
-
Shi, Y.1
Kirwan, P.2
Smith, J.3
MacLean, G.4
-
58
-
-
38349120430
-
Genomic and functional profiling of human down syndrome neural progenitors implicates s100b and aquaporin 4 in cell injury.
-
Esposito, G., Imitola, J., Lu, J., De Filippis, D. et al., Genomic and functional profiling of human down syndrome neural progenitors implicates s100b and aquaporin 4 in cell injury. Human Mol. Genet. 2008, 17, 440-457.
-
(2008)
Human Mol. Genet.
, vol.17
, pp. 440-457
-
-
Esposito, G.1
Imitola, J.2
Lu, J.3
De Filippis, D.4
-
59
-
-
50549089957
-
Disease-specific induced pluripotent stem cells.
-
Park, I. H., Arora, N., Huo, H., Maherali, N. et al., Disease-specific induced pluripotent stem cells. Cell 2008, 134, 877-886.
-
(2008)
Cell
, vol.134
, pp. 877-886
-
-
Park, I.H.1
Arora, N.2
Huo, H.3
Maherali, N.4
-
60
-
-
77955173454
-
Clinical and genetic aspects of angelman syndrome.
-
Williams, C. A., Driscoll, D. J., Dagli, A. I., Clinical and genetic aspects of angelman syndrome. Genet. Med. 2010, 12, 385-395.
-
(2010)
Genet. Med.
, vol.12
, pp. 385-395
-
-
Williams, C.A.1
Driscoll, D.J.2
Dagli, A.I.3
-
61
-
-
31044455614
-
Prader-willi syndrome: Clinical genetics, cytogenetics and molecular biology.
-
Bittel, D. C., Butler, M. G., Prader-willi syndrome: Clinical genetics, cytogenetics and molecular biology. Exp. Rev. Mol. Medi. 2005, 7, 1-20.
-
(2005)
Exp. Rev. Mol. Medi.
, vol.7
, pp. 1-20
-
-
Bittel, D.C.1
Butler, M.G.2
-
62
-
-
78049303170
-
Induced pluripotent stem cell models of the genomic imprinting disorders angelman and prader-willi syndromes.
-
Chamberlain, S. J., Chen, P. F., Ng, K. Y., Bourgois-Rocha, F. et al., Induced pluripotent stem cell models of the genomic imprinting disorders angelman and prader-willi syndromes. Proc. Nat. Acad. Sci. USA 2010, 107, 17668-17673.
-
(2010)
Proc. Nat. Acad. Sci. USA
, vol.107
, pp. 17668-17673
-
-
Chamberlain, S.J.1
Chen, P.F.2
Ng, K.Y.3
Bourgois-Rocha, F.4
-
63
-
-
78650051022
-
Induced pluripotent stem cells can be used to model the genomic imprinting disorder Prader-Willi syndrome.
-
Yang, J., Cai, J., Zhang, Y., Wang, X. et al., Induced pluripotent stem cells can be used to model the genomic imprinting disorder Prader-Willi syndrome. J. Biol. Chem. 2010, 285, 40303-40311.
-
(2010)
J. Biol. Chem.
, vol.285
, pp. 40303-40311
-
-
Yang, J.1
Cai, J.2
Zhang, Y.3
Wang, X.4
-
64
-
-
78650115906
-
Perspectives and diagnostic considerations in spinal muscular atrophy.
-
Prior, T. W., Perspectives and diagnostic considerations in spinal muscular atrophy. Genet. Med. 2010, 12, 145-152.
-
(2010)
Genet. Med.
, vol.12
, pp. 145-152
-
-
Prior, T.W.1
-
65
-
-
77953893282
-
Spinal muscular atrophy: Mechanisms and therapeutic strategies.
-
Lorson, C. L., Rindt, H., Shababi, M., Spinal muscular atrophy: Mechanisms and therapeutic strategies. Hum. Mol. Genet. 2010, 19, R111-118.
-
(2010)
Hum. Mol. Genet.
, vol.19
-
-
Lorson, C.L.1
Rindt, H.2
Shababi, M.3
-
66
-
-
81855206164
-
Brief report: Phenotypic rescue of induced pluripotent stem cell-derived motoneurons of a spinal muscular atrophy patient.
-
Chang, T., Zheng, W., Tsark, W., Bates, S. et al., Brief report: Phenotypic rescue of induced pluripotent stem cell-derived motoneurons of a spinal muscular atrophy patient. Stem Cells 2011, 29, 2090-2093.
-
(2011)
Stem Cells
, vol.29
, pp. 2090-2093
-
-
Chang, T.1
Zheng, W.2
Tsark, W.3
Bates, S.4
-
67
-
-
58249110796
-
Induced pluripotent stem cells from a spinal muscular atrophy patient.
-
Ebert, A. D., Yu, J., Rose, F. F. Jr., Mattis, V. B. et al., Induced pluripotent stem cells from a spinal muscular atrophy patient. Nature 2009, 457, 277-280.
-
(2009)
Nature
, vol.457
, pp. 277-280
-
-
Ebert, A.D.1
Yu, J.2
Rose Jr., F.F.3
Mattis, V.B.4
-
68
-
-
54049142098
-
Friedreich ataxia.
-
Pandolfo, M., Friedreich ataxia. Arch. Neurol. 2008, 65, 1296-1303.
-
(2008)
Arch. Neurol.
, vol.65
, pp. 1296-1303
-
-
Pandolfo, M.1
-
69
-
-
78049512763
-
Friedreich's ataxia induced pluripotent stem cells model intergenerational gaattc triplet repeat instability.
-
Ku, S., Soragni, E., Campau, E., Thomas, E. A. et al., Friedreich's ataxia induced pluripotent stem cells model intergenerational gaattc triplet repeat instability. Cell Stem Cell 2010, 7, 631-637.
-
(2010)
Cell Stem Cell
, vol.7
, pp. 631-637
-
-
Ku, S.1
Soragni, E.2
Campau, E.3
Thomas, E.A.4
-
70
-
-
79960331887
-
Generation of induced pluripotent stem cell lines from friedreich ataxia patients.
-
Liu, J., Verma, P. J., Evans-Galea, M. V., Delatycki, M. B. et al., Generation of induced pluripotent stem cell lines from friedreich ataxia patients. Stem Cell Reviews 2011, 7, 703-713.
-
(2011)
Stem Cell Reviews
, vol.7
, pp. 703-713
-
-
Liu, J.1
Verma, P.J.2
Evans-Galea, M.V.3
Delatycki, M.B.4
-
71
-
-
33947125154
-
X-linked adrenoleukodystrophy.
-
Moser, H. W., Mahmood, A., Raymond, G. V., X-linked adrenoleukodystrophy. Nat. Rev. Neurolo. Neurology 2007, 3, 140-151.
-
(2007)
Nat. Rev. Neurolo. Neurology
, vol.3
, pp. 140-151
-
-
Moser, H.W.1
Mahmood, A.2
Raymond, G.V.3
-
72
-
-
0027532282
-
Putative x-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters.
-
Mosser, J., Douar, A. M., Sarde, C. O., Kioschis, P. et al., Putative x-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature 1993, 361, 726-730.
-
(1993)
Nature
, vol.361
, pp. 726-730
-
-
Mosser, J.1
Douar, A.M.2
Sarde, C.O.3
Kioschis, P.4
-
73
-
-
0035208916
-
Abcd1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations.
-
Kemp, S., Pujol, A., Waterham, H. R., van Geel, B. M. et al., Abcd1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations. Hum. Mutat. 2001, 18, 499-515.
-
(2001)
Hum. Mutat.
, vol.18
, pp. 499-515
-
-
Kemp, S.1
Pujol, A.2
Waterham, H.R.3
van Geel, B.M.4
-
74
-
-
80052579389
-
Induced pluripotent stem cell models from X-linked adrenoleukodystrophy patients.
-
Jang, J., Kang, H. C., Kim, H. S., Kim, J. Y. et al., Induced pluripotent stem cell models from X-linked adrenoleukodystrophy patients. Ann. Neurol. 2011, 70, 402-409.
-
(2011)
Ann. Neurol.
, vol.70
, pp. 402-409
-
-
Jang, J.1
Kang, H.C.2
Kim, H.S.3
Kim, J.Y.4
-
75
-
-
0032562653
-
Lovastatin and sodium phenylacetate normalize the levels of very long chain fatty acids in skin fibroblasts of X- adrenoleukodystrophy.
-
Singh, I., Pahan, K., Khan, M., Lovastatin and sodium phenylacetate normalize the levels of very long chain fatty acids in skin fibroblasts of X- adrenoleukodystrophy. FEBS Lett. 1998, 426, 342-346.
-
(1998)
FEBS Lett.
, vol.426
, pp. 342-346
-
-
Singh, I.1
Pahan, K.2
Khan, M.3
-
76
-
-
84876839257
-
A human dravet syndrome model from patient induced pluripotent stem cells.
-
Higurashi, N., Uchida, T., Lossin, C., Misumi, Y. et al., A human dravet syndrome model from patient induced pluripotent stem cells. Mol. Brain 2013, 6, 19.
-
(2013)
Mol. Brain
, vol.6
, pp. 19
-
-
Higurashi, N.1
Uchida, T.2
Lossin, C.3
Misumi, Y.4
-
77
-
-
84883302304
-
Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism.
-
Liu, Y., Lopez-Santiago, L. F., Yuan, Y., Jones, J. M. et al., Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism. Ann. Neurol. 2013, 74, 128-139.
-
(2013)
Ann. Neurol.
, vol.74
, pp. 128-139
-
-
Liu, Y.1
Lopez-Santiago, L.F.2
Yuan, Y.3
Jones, J.M.4
-
78
-
-
84885724899
-
Modeling dravet syndrome using induced pluripotent stem cells (iPSCs) and directly converted neurons.
-
Jiao, J., Yang, Y., Shi, Y., Chen, J. et al., Modeling dravet syndrome using induced pluripotent stem cells (iPSCs) and directly converted neurons. Hum. Mol. Genet. 2013, 22, 4241-4252.
-
(2013)
Hum. Mol. Genet.
, vol.22
, pp. 4241-4252
-
-
Jiao, J.1
Yang, Y.2
Shi, Y.3
Chen, J.4
-
79
-
-
68549090915
-
Severe epilepsy syndromes of early childhood: The link between genetics and pathophysiology with a focus on scn1a mutations.
-
Stafstrom, C. E., Severe epilepsy syndromes of early childhood: The link between genetics and pathophysiology with a focus on scn1a mutations. J. Child Neurol. 2009, 24, 15S-23.
-
(2009)
J. Child Neurol.
, vol.24
-
-
Stafstrom, C.E.1
-
80
-
-
37749029721
-
Persistent sodium current and its role in epilepsy.
-
Stafstrom, C. E., Persistent sodium current and its role in epilepsy. Epilepsy Curr. 2007, 7, 15-22.
-
(2007)
Epilepsy Curr.
, vol.7
, pp. 15-22
-
-
Stafstrom, C.E.1
-
81
-
-
33748115786
-
Reduced sodium current in gabaergic interneurons in a mouse model of severe myoclonic epilepsy in infancy.
-
Yu, F. H., Mantegazza, M., Westenbroek, R. E., Robbins, C. A. et al., Reduced sodium current in gabaergic interneurons in a mouse model of severe myoclonic epilepsy in infancy. Nature Neurosci. 2006, 9, 1142-1149.
-
(2006)
Nature Neurosci.
, vol.9
, pp. 1142-1149
-
-
Yu, F.H.1
Mantegazza, M.2
Westenbroek, R.E.3
Robbins, C.A.4
-
82
-
-
41349090105
-
Generation of human induced pluripotent stem cells from dermal fibroblasts.
-
Lowry, W. E., Richter, L., Yachechko, R., Pyle, A. D. et al., Generation of human induced pluripotent stem cells from dermal fibroblasts. Proc. Nat. Acad. Sci. USA 2008, 105, 2883-2888.
-
(2008)
Proc. Nat. Acad. Sci. USA
, vol.105
, pp. 2883-2888
-
-
Lowry, W.E.1
Richter, L.2
Yachechko, R.3
Pyle, A.D.4
-
83
-
-
84877022015
-
Generation of human-induced pluripotent stem cells by lentiviral transduction.
-
Moore, J. C., Generation of human-induced pluripotent stem cells by lentiviral transduction. Meth. Mol. Biol. 2013, 997, 35-43.
-
(2013)
Meth. Mol. Biol.
, vol.997
, pp. 35-43
-
-
Moore, J.C.1
-
84
-
-
50849142559
-
A high-efficiency system for the generation and study of human induced pluripotent stem cells.
-
Maherali, N., Ahfeldt, T., Rigamonti, A., Utikal, J. et al., A high-efficiency system for the generation and study of human induced pluripotent stem cells. Cell Stem Cell 2008, 3, 340-345.
-
(2008)
Cell Stem Cell
, vol.3
, pp. 340-345
-
-
Maherali, N.1
Ahfeldt, T.2
Rigamonti, A.3
Utikal, J.4
-
85
-
-
77958082207
-
Generation of transgene-free lung disease-specific human induced pluripotent stem cells using a single excisable lentiviral stem cell cassette.
-
Somers, A., Jean, J. C., Sommer, C. A., Omari, A. et al., Generation of transgene-free lung disease-specific human induced pluripotent stem cells using a single excisable lentiviral stem cell cassette. Stem Cells 2010, 28, 1728-1740.
-
(2010)
Stem Cells
, vol.28
, pp. 1728-1740
-
-
Somers, A.1
Jean, J.C.2
Sommer, C.A.3
Omari, A.4
-
86
-
-
45449094570
-
Reprogramming of pancreatic beta cells into induced pluripotent stem cells.
-
Stadtfeld, M., Brennand, K., Hochedlinger, K., Reprogramming of pancreatic beta cells into induced pluripotent stem cells. Curr. Biol. 2008, 18, 890-894.
-
(2008)
Curr. Biol.
, vol.18
, pp. 890-894
-
-
Stadtfeld, M.1
Brennand, K.2
Hochedlinger, K.3
-
87
-
-
72849137462
-
Adenoviral gene delivery can reprogram human fibroblasts to induced pluripotent stem cells.
-
Zhou, W., Freed, C.R., Adenoviral gene delivery can reprogram human fibroblasts to induced pluripotent stem cells. Stem Cells 2009, 11, 2667-2674.
-
(2009)
Stem Cells
, vol.11
, pp. 2667-2674
-
-
Zhou, W.1
Freed, C.R.2
-
88
-
-
77955118962
-
Generation of human induced pluripotent stem cells by simple transient transfection of plasmid DNA encoding reprogramming factors.
-
Si-Tayeb, K., Noto, F. K., Sepac, A., Sedlic, F. et al., Generation of human induced pluripotent stem cells by simple transient transfection of plasmid DNA encoding reprogramming factors. BMC Dev. Biol. 2010, 10, 81.
-
(2010)
BMC Dev. Biol.
, vol.10
, pp. 81
-
-
Si-Tayeb, K.1
Noto, F.K.2
Sepac, A.3
Sedlic, F.4
-
89
-
-
79953826088
-
Efficient generation of transgene-free induced pluripotent stem cells from normal and neoplastic bone marrow and cord blood mononuclear cells.
-
Hu, K., Yu, J., Suknuntha, K., Tian, S. et al., Efficient generation of transgene-free induced pluripotent stem cells from normal and neoplastic bone marrow and cord blood mononuclear cells. Blood 2011, 117, e109-119.
-
(2011)
Blood
, vol.117
-
-
Hu, K.1
Yu, J.2
Suknuntha, K.3
Tian, S.4
-
90
-
-
78651108455
-
Generation of adult human induced pluripotent stem cells using nonviral minicircle DNA vectors.
-
Narsinh, K. H., Jia, F., Robbins, R. C., Kay, M. A. et al., Generation of adult human induced pluripotent stem cells using nonviral minicircle DNA vectors. Nature Protoco. 2011, 6, 78-88.
-
(2011)
Nature Protoco.
, vol.6
, pp. 78-88
-
-
Narsinh, K.H.1
Jia, F.2
Robbins, R.C.3
Kay, M.A.4
-
91
-
-
84863505092
-
Generation of induced pluripotent stem cells from primary chronic myelogenous leukemia patient samples.
-
Kumano, K., Arai, S., Hosoi, M., Taoka, K. et al., Generation of induced pluripotent stem cells from primary chronic myelogenous leukemia patient samples. Blood 2012, 119, 6234-6242.
-
(2012)
Blood
, vol.119
, pp. 6234-6242
-
-
Kumano, K.1
Arai, S.2
Hosoi, M.3
Taoka, K.4
-
92
-
-
84880124696
-
-
Churko, J., Burridge, P., Wu, J., Generation of human ipscs from human peripheral blood mononuclear cells using non-integrative sendai virus in chemically defined conditions, in: Kao, R. L. (Ed.), Cellular cardiomyoplasty, Humana Press 2013 81-88.
-
Churko, J., Burridge, P., Wu, J., Generation of human ipscs from human peripheral blood mononuclear cells using non-integrative sendai virus in chemically defined conditions, in: Kao, R. L. (Ed.), Cellular cardiomyoplasty, Humana Press 2013, pp. 81-88.
-
-
-
-
93
-
-
66049135249
-
Generation of induced pluripotent stem cells using recombinant proteins.
-
Zhou, H., Wu, S., Joo, J.Y., Zhu, S. et al., Generation of induced pluripotent stem cells using recombinant proteins. Cell Stem Cell 2009, 5, 381-384.
-
(2009)
Cell Stem Cell
, vol.5
, pp. 381-384
-
-
Zhou, H.1
Wu, S.2
Joo, J.Y.3
Zhu, S.4
-
94
-
-
79957855262
-
Reprogramming of mouse and human cells to pluripotency using mature microRNAs.
-
Miyoshi, N., Ishii, H., Nagano, H., Haraguchi, N. et al., Reprogramming of mouse and human cells to pluripotency using mature microRNAs. Cell Stem Cell 2011, 8, 633-638.
-
(2011)
Cell Stem Cell
, vol.8
, pp. 633-638
-
-
Miyoshi, N.1
Ishii, H.2
Nagano, H.3
Haraguchi, N.4
|