SEARCH

SEARCH BY CITATION

References

  • 1000 Genomes Project Consortium, Abecasis, G. R., Auton, A., Brooks, L. D., DePristo, M. A., Durbin, R. M., Handsaker, R. E., Kang, H. M., Marth, G. T. & McVean, G. A. 2012. An integrated map of genetic variation from 1,092 human genomes. Nature 491, 5665.
  • Aida, T., Ito, Y., Takahashi, Y. K. & Tanaka, K. 2012. Overstimulation of NMDA receptors impairs early brain development in vivo. PLoS ONE 7, e36853.
  • Bai, N., Hayashi, H., Aida, T., Namekata, K., Harada, T., Mishina, M. & Tanaka, K. 2013a. Dock3 interaction with a glutamate-receptor NR2D subunit protects neurons from excitotoxicity. Mol. Brain 6, 22.
  • Bai, N., Aida, T., Yanagisawa, M., Katou, S., Sakimura, K., Mishina, M. & Tanaka, K. 2013b. NMDA receptor subunits have different roles in NMDA-induced neurotoxicity in the retina. Mol. Brain 6, 34.
  • Capecchi, M. R. 2005. Gene targeting in mice: functional analysis of the mammalian genome for the twenty-first century. Nat. Rev. Genet. 6, 507512.
  • Carbery, I. D., Ji, D., Harrington, A., Brown, V., Weinstein, E. J., Liaw, L. & Cui, X. 2010. Targeted genome modification in mice using zinc-finger nucleases. Genetics 186, 451459.
  • Chen, F., Pruett-Miller, S. M., Huang, Y., Gjoka, M., Duda, K., Taunton, J., Collingwood, T. N., Frodin, M. & Davis, G. D. 2011. High-frequency genome editing using ssDNA oligonucleotides with zinc-finger nucleases. Nat. Methods 8, 753755.
  • Cirulli, E. T. & Goldstein, D. B. 2010. Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nat. Rev. Genet. 11, 415425.
  • Cohen, S., Gabel, H. W., Hemberg, M., Hutchinson, A. N., Sadacca, L. A., Ebert, D. H., Harmin, D. A., Greenberg, R. S., Verdine, V. K., Zhou, Z., Wetsel, W. C., West, A. E. & Greenberg, M. E. 2011. Genome-wide activity-dependent MeCP2 phosphorylation regulates nervous system development and function. Neuron 72, 7285.
  • Cong, L., Ran, F. A., Cox, D., Lin, S., Barretto, R., Habib, N., Hsu, P. D., Wu, X., Jiang, W., Marraffini, L. A. & Zhang, F. 2013. Multiplex genome engineering using CRISPR/Cas systems. Science 339, 819823.
  • Cui, X., Ji, D., Fisher, D. A., Wu, Y., Briner, D. M. & Weinstein, E. J. 2011. Targeted integration in rat and mouse embryos with zinc-finger nucleases. Nat. Biotechnol. 29, 6467.
  • Davies, B., Davies, G., Preece, C., Puliyadi, R., Szumska, D. & Bhattacharya, S. 2013. Site specific mutation of the Zic2 locus by microinjection of TALEN mRNA in mouse CD1, C3H and C57BL/6J oocytes. PLoS ONE 8, e60216.
  • Ebert, D. H., Gabel, H. W., Robinson, N. D., Kastan, N. R., Hu, L. S., Cohen, S., Navarro, A. J., Lyst, M. J., Ekiert, R., Bird, A. P. & Greenberg, M. E. 2013. Activity-dependent phosphorylation of MeCP2 threonine 308 regulates interaction with NCoR. Nature 499, 341345.
  • ENCODE Project Consortium, Bernstein, B. E., Birney, E., Dunham, I., Green, E. D., Gunter, C. & Snyder, M. 2012. An integrated encyclopedia of DNA elements in the human genome. Nature 489, 5774.
  • Fu, Y., Foden, J. A., Khayter, C., Maeder, M. L., Reyon, D., Joung, J. K. & Sander, J. D. 2013. High-frequency off-target mutagenesis induced by CRISPR-Cas nucleases in human cells. Nat. Biotechnol. 31, 822826.
  • Geurts, A. M., Cost, G. J., Freyvert, Y., Zeitler, B., Miller, J. C., Choi, V. M., Jenkins, S. S., Wood, A., Cui, X., Meng, X., Vincent, A., Lam, S., Michalkiewicz, M., Schilling, R., Foeckler, J., Kalloway, S., Weiler, H., Ménoret, S., Anegon, I., Davis, G. D., Zhang, L., Rebar, E. J., Gregory, P. D., Urnov, F. D., Jacob, H. J. & Buelow, R. 2009. Knockout rats via embryo microinjection of zinc-finger nucleases. Science 325, 433.
  • Goffin, D., Allen, M., Zhang, L., Amorim, M., Wang, I. T., Reyes, A. R., Mercado-Berton, A., Ong, C., Cohen, S., Hu, L., Blendy, J. A., Carlson, G. C., Siegel, S. J., Greenberg, M. E. & Zhou, Z. 2011. Rett syndrome mutation MeCP2 T158A disrupts DNA binding, protein stability and ERP responses. Nat. Neurosci. 15, 274283.
  • Harada, T., Harada, C., Watanabe, M., Inoue, Y., Sakagawa, T., Nakayama, N., Sasaki, S., Okuyama, S., Watase, K., Wada, K. & Tanaka, K. 1998. Functions of the two glutamate transporters GLAST and GLT-1 in the retina. Proc. Natl Acad. Sci. USA 95, 46634666.
  • Harada, T., Harada, C., Nakamura, K., Quah, H. M., Okumura, A., Namekata, K., Saeki, T., Aihara, M., Yoshida, H., Mitani, A. & Tanaka, K. 2007. The potential role of glutamate transporters in the pathogenesis of normal tension glaucoma. J. Clin. Invest. 117, 17631770.
  • Hermann, M., Maeder, M. L., Rector, K., Ruiz, J., Becher, B., Bürki, K., Khayter, C., Aguzzi, A., Joung, J. K., Buch, T. & Pelczar, P. 2012. Evaluation of OPEN zinc finger nucleases for direct gene targeting of the ROSA26 locus in mouse embryos. PLoS ONE 7, e41796.
  • Hsu, P. D., Scott, D. A., Weinstein, J. A., Ran, F. A., Konermann, S., Agarwala, V., Li, Y., Fine, E. J., Wu, X., Shalem, O., Cradick, T. J., Marraffini, L. A., Bao, G. & Zhang, F. 2013. DNA targeting specificity of RNA-guided Cas9 nucleases. Nat. Biotechnol. 31, 827832.
  • Iossifov, I., Ronemus, M., Levy, D., Wang, Z., Hakker, I., Rosenbaum, J., Yamrom, B., Lee, Y. H., Narzisi, G., Leotta, A., Kendall, J., Grabowska, E., Ma, B., Marks1, S., Rodgers, L., Stepansky, A., Troge, J., Andrews, P., Bekritsky, M., Pradhan, K., Ghiban, E., Kramer, M., Parla, J., Demeter, R., Fulton, L. L., Fulton, R. S., Magrini, V. J., Ye, K., Darnell, J. C., Darnell, R. B., Mardis, E. R., Wilson, R. K., Schatz, M. C., McCombie, W. R. & Wigler, M. 2012. De novo gene disruptions in children on the autistic spectrum. Neuron 74, 285299.
  • Jentarra, G. M., Olfers, S. L., Rice, S. G., Srivastava, N., Homanics, G. E., Blue, M., Naidu, S. & Narayanan, V. 2010. Abnormalities of cell packing density and dendritic complexity in the MeCP2 A140V mouse model of Rett syndrome/X-linked mental retardation. BMC Neurosci. 11, 19.
  • Joung, J. K. & Sander, J. D. 2013. TALENs: a widely applicable technology for targeted genome editing. Nat. Rev. Mol. Cell Biol. 14, 4955.
  • Kamberov, Y. G., Wang, S., Tan, J., Gerbault, P., Wark, A., Tan, L., Yang, Y., Li, S., Tang, K., Chen, H., Powell, A., Itan, Y., Fuller, D., Lohmueller, J., Mao, J., Schachar, A., Paymer, M., Hostetter, E., Byrne, E., Burnett, M., McMahon, A. P., Thomas, M. G., Lieberman, D. E., Jin, L., Tabin, C. J., Morgan, B. A. & Sabeti, P. C. 2013. Modeling recent human evolution in mice by expression of a selected EDAR variant. Cell 152, 691702.
  • Kitajima, S., Takagi, A., Inoue, T. & Saga, Y. 2000. MesP1 and MesP2 are essential for the development of cardiac mesoderm. Development 127, 32153226.
  • Li, D., Qiu, Z., Shao, Y., Chen, Y., Guan, Y., Liu, M., Li, Y., Gao, N., Wang, L., Lu, X., Zhao, Y. & Liu, M. 2013. Heritable gene targeting in the mouse and rat using a CRISPR-Cas system. Nat. Biotechnol. 31, 681683.
  • Lyst, M. J., Ekiert, R., Ebert, D. H., Merusi, C., Nowak, J., Selfridge, J., Guy, J., Kastan, N. R., Robinson, N. D., de Lima Alves, F., Rappsilber, J., Greenberg, M. E. & Bird, A. 2013. Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor. Nat. Neurosci. 16, 898902.
  • Mali, P., Yang, L., Esvelt, K. M., Aach, J., Guell, M., DiCarlo, J. E., Norville, J. E. & Church, G. M. 2013. RNA-guided human genome engineering via Cas9. Science 339, 823826.
  • Manolio, T. A., Collins, F. S., Cox, N. J., Goldstein, D. B., Hindorff, L. A., Hunter, D. J., McCarthy, M. I., Ramos, E. M., Cardon, L. R., Chakravarti, A., Cho, J. H., Guttmacher, A. E., Kong, A., Kruglyak, L., Mardis, E., Rotimi, C. N., Slatkin, M., Valle, D., Whittemore, A. S., Boehnke, M., Clark, A. G., Eichler, E. E., Gibson, G., Haines, J. L., Mackay, T. F., McCarroll, S. A. & Visscher, P. M. 2009. Finding the missing heritability of complex diseases. Nature 461, 747753.
  • Matsugami, T. R., Tanemura, K., Mieda, M., Nakatomi, R., Yamada, K., Kondo, T., Ogawa, M., Obata, K., Watanabe, M., Hashikawa, T. & Tanaka, K. 2006. Indispensability of the glutamate transporters GLAST and GLT1 to brain development. Proc. Natl Acad. Sci. USA 103, 1216112166.
  • Maurano, M. T., Humbert, R., Rynes, E., Thurman, R. E., Haugen, E., Wang, H., Reynolds, A. P., Sandstrom, R., Qu, H., Brody, J., Shafer, A., Neri, F., Lee, K., Kutyavin, T., Stehling-Sun, S., Johnson, A. K., Canfield, T. K., Giste, E., Diegel, M., Bates, D., Hansen, R. S., Neph, S., Sabo, P. J., Heimfeld, S., Raubitschek, A., Ziegler, S., Cotsapas, C., Sotoodehnia, N., Glass, I., Sunyaev, S. R., Kaul, R. & Stamatoyannopoulos, J. A. 2012. Systematic localization of common disease-associated variation in regulatory DNA. Science 337, 11901195.
  • Menke, D. B. 2013. Engineering subtle targeted mutations into the mouse genome. Genesis 51, 605618.
  • Meyer, M., de Angelis, M. H., Wurst, W. & Kuhn, R. 2010. Gene targeting by homologous recombination in mouse zygotes mediated by zinc-finger nucleases. Proc. Natl Acad. Sci. USA 107, 1502215026.
  • Meyer, M., Ortiz, O., Hrabe de Angelis, M., Wurst, W. & Kuhn, R. 2012. Modeling disease mutations by gene targeting in one-cell mouse embryos. Proc. Natl Acad. Sci. USA 109, 93549359.
  • Mussolino, C., Morbitzer, R., Lütge, F., Dannemann, N., Lahaye, T. & Cathomen, T. 2011. A novel TALE nuclease scaffold enables high genome editing activity in combination with low toxicity. Nucleic Acids Res. 39, 92839293.
  • Namekata, K., Kimura, A., Kawamura, K., Guo, X., Harada, C., Tanaka, K. & Harada, T. 2013. Dock3 attenuates neural cell death due to NMDA neurotoxicity and oxidative stress in a mouse model of normal tension glaucoma. Cell Death Differ. 20, 12501256.
  • Neale, B. M., Kou, Y., Liu, L., Ma'ayan, A., Samocha, K. E., Sabo, A., Lin, C. F., Stevens, C., Wang, L. S., Makarov, V., Polak, P., Yoon, S., Maguire, J., Crawford, E. L., Campbell, N. G., Geller, E. T., Valladares, O., Schafer, C., Liu, H., Zhao, T., Cai, G., Lihm, J., Dannenfelser, R., Jabado, O., Peralta, Z., Nagaswamy, U., Muzny, D., Reid, J. G., Newsham, I., Wu, Y., Lewis, L., Han, Y., Voight, B. F., Lim, E., Rossin, E., Kirby, A., Flannick, J., Fromer, M., Shakir, K., Fennell, T., Garimella, K., Banks, E., Poplin, R., Gabriel, S., DePristo, M., Wimbish, J. R., Boone, B. E., Levy, S. E., Betancur, C., Sunyaev, S., Boerwinkle, E., Buxbaum, J. D., Cook, E. H., Devlin, B., Gibbs, R. A., Roeder, K., Schellenberg, G. D., Sutcliffe, J. S. & Daly, M. J. 2012. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 485, 242245.
  • Novarino, G., El-Fishawy, P., Kayserili, H., Meguid, N. A., Scott, E. M., Schroth, J., Silhavy, J. L., Kara, M., Khalil, R. O., Ben-Omran, T., Ercan-Sencicek, A. G., Hashish, A. F., Sanders, S. J., Gupta, A. R., Hashem, H. S., Matern, D., Gabriel, S., Sweetman, L., Rahimi, Y., Harris, R. A., State, M. W. & Gleeson, J. G. 2012. Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science 338, 394397.
  • O'Roak, B. J., Vives, L., Girirajan, S., Karakoc, E., Krumm, N., Coe, B. P., Levy, R., Ko, A., Lee, C., Smith, J. D., Turner, E. H., Stanaway, I. B., Vernot, B., Malig, M., Baker, C., Reilly, B., Akey, J. M., Borenstein, E., Rieder, M. J., Nickerson, D. A., Bernier, R., Shendure, J. & Eichler, E. E.. 2012. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 485, 246250.
  • Panda, S. K., Wefers, B., Ortiz, O., Floss, T., Schmid, B., Haass, C., Wurst, W. & Kühn, R. 2013. Highly efficient targeted mutagenesis in mice using TALENs. Genetics doi: 10.1534/genetics.113.156570.
  • Pattanayak, V., Lin, S., Guilinger, J. P., Ma, E., Doudna, J. A. & Liu, D. R. 2013. High-throughput profiling of off-target DNA cleavage reveals RNA-programmed Cas9 nuclease specificity. Nat. Biotechnol. 31, 839843.
  • Qiu, Z., Liu, M., Chen, Z., Shao, Y., Pan, H., Wei, G., Yu, C., Zhang, L., Li, X., Wang, P., Fan, H. Y., Du, B., Liu, B. & Li, D. 2013. High-efficiency and heritable gene targeting in mouse by transcription activator-like effector nucleases. Nucleic Acids Res. 41, e120.
  • Ran, F. A., Hsu, P. D., Lin, C. Y., Gootenberg, J. S., Konermann, S., Trevino, A. E., Scott, D. A., Inoue, A., Matoba, S., Zhang, Y. & Zhang, F. 2013. Double nicking by RNA-guided CRISPR Cas9 for enhanced genome editing specificity. Cell 154, 13801389.
  • Raychaudhuri, S. 2011. Mapping rare and common causal alleles for complex human diseases. Cell 147, 5769.
  • Sanders, S. J., Murtha, M. T., Gupta, A. R., Murdoch, J. D., Raubeson, M. J., Willsey, A. J., Ercan-Sencicek, A. G., DiLullo, N. M., Parikshak, N. N., Stein, J. L., Walker, M. F., Ober, G. T., Teran, N. A., Song, Y., El-Fishawy, P., Murtha, R. C., Choi, M., Overton, J. D., Bjornson, R. D., Carriero, N. J., Meyer, K. A., Bilguvar, K., Mane, S. M., Sestan, N., Lifton, R. P., Günel, M., Roeder, K., Geschwind, D. H., Devlin, B. & State, M. W. 2012. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 485, 237241.
  • Sasaki, E., Suemizu, H., Shimada, A., Hanazawa, K., Oiwa, R., Kamioka, M., Tomioka, I., Sotomaru, Y., Hirakawa, R., Eto, T., Shiozawa, S., Maeda, T., Ito, M., Ito, R., Kito, C., Yagihashi, C., Kawai, K., Miyoshi, H., Tanioka, Y., Tamaoki, N., Habu, S., Okano, H. & Nomura, T. 2009. Generation of transgenic non-human primates with germline transmission. Nature 459, 523527.
  • Shen, B., Zhang, J., Wu, H., Wang, J., Ma, K., Li, Z., Zhang, X., Zhang, P. & Huang, X. 2013. Generation of gene-modified mice via Cas9/RNA-mediated gene targeting. Cell Res. 23, 720723.
  • Skarnes, W. C., Rosen, B., West, A. P., Koutsourakis, M., Bushell, W., Iyer, V., Mujica, A. O., Thomas, M., Harrow, J., Cox, T., Jackson, D., Severin, J., Biggs, P., Fu, J., Nefedov, M., de Jong, P. J., Stewart, A. F. & Bradley, A. 2011. A conditional knockout resource for the genome-wide study of mouse gene function. Nature 474, 337342.
  • Sung, Y. H., Baek, I. J., Seong, J. K., Kim, J. S. & Lee, H. W. 2012. Mouse genetics: catalogue and scissors. BMB Rep. 45, 686692.
  • Sung, Y. H., Baek, I. J., Kim, D. H., Jeon, J., Lee, J., Lee, K., Jeong, D., Kim, J. S. & Lee, H. W. 2013. Knockout mice created by TALEN-mediated gene targeting. Nat. Biotechnol. 31, 2324.
  • Sur, I. K., Hallikas, O., Vähärautio, A., Yan, J., Turunen, M., Enge, M., Taipale, M., Karhu, A., Aaltonen, L. A. & Taipale, J. 2012. Mice lacking a Myc enhancer that includes human SNP rs6983267 are resistant to intestinal tumors. Science 338, 13601363.
  • Tabuchi, K., Blundell, J., Etherton, M. R., Hammer, R. E., Liu, X., Powell, C. M. & Südhof, T. C. 2007. A neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice. Science 318, 7176.
  • Tanaka, K., Watase, K., Manabe, T., Yamada, K., Watanabe, M., Takahashi, K., Iwama, H., Nishikawa, T., Ichihara, N., Kikuchi, T., Okuyama, S., Kawashima, N., Hori, S., Takimoto, M. & Wada, K. 1997. Epilepsy and exacerbation of brain injury in mice lacking the glutamate transporter GLT-1. Science 276, 16991702.
  • Tao, J., Hu, K., Chang, Q., Wu, H., Sherman, N. E., Martinowich, K., Klose, R. J., Schanen, C., Jaenisch, R., Wang, W. & Sun, Y. E. 2009. Phosphorylation of MeCP2 at Serine 80 regulates its chromatin association and neurological function. Proc. Natl Acad. Sci. USA 106, 48824887.
  • Urnov, F. D., Rebar, E. J., Holmes, M. C., Zhang, H. S. & Gregory, P. D. 2010. Genome editing with engineered zinc finger nucleases. Nat. Rev. Genet. 11, 636646.
  • Veltman, J. A. & Brunner, H. G. 2012. De novo mutations in human genetic disease. Nat. Rev. Genet. 13, 565575.
  • Wang, H., Yang, H., Shivalila, C. S., Dawlaty, M. M., Cheng, A. W., Zhang, F. & Jaenisch, R. 2013a. One-step generation of mice carrying mutations in multiple genes by CRISPR/Cas-mediated genome engineering. Cell 153, 910918.
  • Wang, H., Hu, Y. C., Markoulaki, S., Welstead, G. G., Cheng, A. W., Shivalila, C. S., Pyntikova, T., Dadon, D. B., Voytas, D. F., Bogdanove, A. J., Page, D. C. & Jaenisch, R. 2013b. TALEN-mediated editing of the mouse Y chromosome. Nat. Biotechnol. 31, 530532.
  • Watase, K., Hashimoto, K., Kano, M., Yamada, K., Watanabe, M., Inoue, Y., Okuyama, S., Sakagawa, T., Ogawa, S., Kawashima, N., Hori, S., Takimoto, M., Wada, K. & Tanaka, K. 1998. Motor discoordination and increased susceptibility to cerebellar injury in GLAST mutant mice. Eur. J. Neurosci. 10, 976988.
  • Wefers, B., Meyer, M., Ortiz, O., Hrabé de Angelis, M., Hansen, J., Wurst, W. & Kühn, R. 2013. Direct production of mouse disease models by embryo microinjection of TALENs and oligodeoxynucleotides. Proc. Natl Acad. Sci. USA 110, 37823787.
  • White, J. K., Gerdin, A. K., Karp, N. A., Ryder, E., Buljan, M., Bussell, J. N., Salisbury, J., Clare, S., Ingham, N. J., Podrini, C., Houghton, R., Estabel, J., Bottomley, J. R., Melvin, D. G., Sunter, D., Adams, N. C., Tannahill, D., Logan, D. W., Macarthur, D. G., Flint, J., Mahajan, V. B., Tsang, S. H., Smyth, I., Watt, F. M., Skarnes, W. C., Dougan, G., Adams, D. J., Ramirez-Solis, R., Bradley, A. & Steel, K. P. & Sanger Institute Mouse Genetics Project. 2013. Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes. Cell 154, 452464.
  • Wu, J., Huang, Z., Ren, J., Zhang, Z., He, P., Li, Y., Ma, J., Chen, W., Zhang, Y., Zhou, X., Yang, Z., Wu, S. Q., Chen, L. & Han, J. 2013. Mlkl knockout mice demonstrate the indispensable role of Mlkl in necroptosis. Cell Res. 23, 9941006.
  • Yang, H., Wang, H., Shivalila, C. S., Cheng, A. W., Shi, L. & Jaenisch, R. 2013. One-Step generation of mice carrying reporter and conditional alleles by CRISPR/Cas-mediated genome engineering. Cell 154, 13701379.