يعرض 1 - 10 نتائج من 75 نتيجة بحث عن '"Conserved Sequence -- genetics"', وقت الاستعلام: 1.25s تنقيح النتائج
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    المساهمون: Instituto de Investigação e Inovação em Saúde, European Research Council, European Commission, Fundação para a Ciência e a Tecnologia (Portugal)

    المصدر: Cell Reports
    Digital.CSIC. Repositorio Institucional del CSIC
    instname

    وصف الملف: application/pdf

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    المصدر: Halgren, C, Nielsen, N M, Nazaryan-Petersen, L, Silahtaroglu, A, Collins, R L, Lowther, C, Kjaergaard, S, Frisch, M, Kirchhoff, M, Brøndum-Nielsen, K, Lind-Thomsen, A, Mang, Y, El-Schich, Z, Boring, C A, Mehrjouy, M M, Jensen, P K A, Fagerberg, C, Krogh, L N, Hansen, J, Bryndorf, T, Hansen, C, Talkowski, M E, Bak, M, Tommerup, N & Bache, I 2018, ' Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes ', American Journal of Human Genetics, vol. 102, no. 6, pp. 1090-1103 . https://doi.org/10.1016/j.ajhg.2018.04.005

    وصف الملف: application/pdf

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    المساهمون: Institut de Génétique Moléculaire de Montpellier (IGMM), Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Maturation des ARN et enzymologie moléculaire (MAEM), Cancéropôle du Grand Est-Université Henri Poincaré - Nancy 1 (UHP)-IFR111-Centre National de la Recherche Scientifique (CNRS), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université de la Méditerranée - Aix-Marseille 2, Universidad de Oviedo [Oviedo], Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), de Toledo, Marion

    المصدر: Human Molecular Genetics
    Human Molecular Genetics, Oxford University Press (OUP), 2011, 20 (23), pp.4540-4555. ⟨10.1093/hmg/ddr385⟩
    Human Molecular Genetics, 2011, 20 (23), pp.4540-4555. ⟨10.1093/hmg/ddr385⟩
    RUO. Repositorio Institucional de la Universidad de Oviedo
    instname
    Human Molecular Genetics, Oxford University Press (OUP), 2011, 20 (23), pp.4540--55. ⟨10.1093/hmg/ddr385⟩

    مصطلحات موضوعية: Aging, [SDV]Life Sciences [q-bio], [SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC], LMNA, Mice, Exon, Progeria, 0302 clinical medicine, Protein Isoforms, Cells, Cultured, Conserved Sequence, Genetics (clinical), Genetics, 0303 health sciences, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Serine-Arginine Splicing Factors, integumentary system, Nuclear Proteins, RNA-Binding Proteins, Aging, Premature, Exons, General Medicine, Lamin Type A, Progerin, [SDV] Life Sciences [q-bio], [SDV.IMM]Life Sciences [q-bio]/Immunology, Premature aging, Silent mutation, Premature/*genetics Animals Base Sequence Cells, congenital, hereditary, and neonatal diseases and abnormalities, [SDV.IMM] Life Sciences [q-bio]/Immunology, RNA Splicing, Molecular Sequence Data, [SDV.CAN]Life Sciences [q-bio]/Cancer, Biology, Transfection, Cultured Conserved Sequence/genetics *Evolution, Evolution, Molecular, 03 medical and health sciences, Splicing factor, [SDV.CAN] Life Sciences [q-bio]/Cancer, [SDV.BC.BC] Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC], medicine, Animals, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Protein Precursors, Molecular Biology, Molecular Exons/genetics Fibroblasts/metabolism/pathology Humans Lamin Type A/*genetics Mice Molecular Sequence Data Nuclear Proteins/genetics/metabolism Nucleic Acid Conformation Progeria/genetics/pathology Protein Isoforms/genetics Protein Precursors/genetics RNA/chemistry/genetics RNA Splice Sites/genetics RNA Splicing/*genetics RNA-Binding Proteins/metabolism Repressor Proteins/metabolism Transfection, 030304 developmental biology, Phenocopy, Base Sequence, nutritional and metabolic diseases, Fibroblasts, medicine.disease, Aging, Cultured Conserved Sequence/genetics *Evolution, Molecular Exons/genetics Fibroblasts/metabolism/pathology Humans Lamin Type A/*genetics Mice Molecular Sequence Data Nuclear Proteins/genetics/metabolism Nucleic Acid Conformation Progeria/genetics/pathology Protein Isoforms/genetics Protein Precursors/genetics RNA/chemistry/genetics RNA Splice Sites/genetics RNA Splicing/*genetics RNA-Binding Proteins/metabolism Repressor Proteins/metabolism Transfection, Premature/*genetics Animals Base Sequence Cells, Repressor Proteins, Nucleic Acid Conformation, RNA, RNA Splice Sites, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030217 neurology & neurosurgery

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    المساهمون: University of Zaragoza - Universidad de Zaragoza [Zaragoza], Institut de pharmacologie et de biologie structurale (IPBS), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Centre National de la Recherche Scientifique (CNRS), Pathogénomique mycobactérienne intégrée - Integrated Mycobacterial Pathogenomics, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), This work was supported in part by the Juan de la Cierva Programme JCI-2009-03799 from the Spanish Ministry of Science and Innovation (to J.G.-A.), the Centre National de la Recherche Scientifique, the Fondation pour la Recherche Médicale ('Equipe FRM' DEQ20090515399 and DEQ20130326471), the European Union 7th Framework Programme (Contracts NEWTBVAC 241745, MM4TB 260872, and FEDER/POCTEFA/REFBIO EFA237/11), the Spanish Ministry of Economy and Competitiveness (Contracts BIO2011-23555 and FIS12/1970), and the Région Midi-Pyrénées (CPER 2007-2013) for the scientific project and for the ASB3 animal facility., We thank Dr. Geanncarlo Lugo-Villarino and Dr. Stephen V. Gordon for critical reading of the manuscript. We thank the members of the Genotoul platforms TRI and ANEXPLO (Institut de Pharmacologie et de Biologie Structurale) for epifluorescence microscopy imaging and for animal experiments, respectively, and Dr. Marie-Agnès Dillies and Dr. Jean-Yves Coppée from the Transcriptome Platform PF2 at the Institut Pasteur for advice., European Project: 241745,EC:FP7:HEALTH,FP7-HEALTH-2009-single-stage,NEWTBVAC(2010), European Project: 260872,EC:FP7:HEALTH,FP7-HEALTH-2010-single-stage,MM4TB(2011), Centre National de la Recherche Scientifique (CNRS)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS)

    المصدر: Proceedings of the National Academy of Sciences of the United States of America
    Proceedings of the National Academy of Sciences of the United States of America, 2014, 111 (31), pp.11491-11496. ⟨10.1073/pnas.1406693111⟩
    Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2014, 111 (31), pp.11491-11496. ⟨10.1073/pnas.1406693111⟩
    Zaguán. Repositorio Digital de la Universidad de Zaragoza
    instname

    وصف الملف: application/pdf

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    المؤلفون: Birney, Ewan, Stamatoyannopoulos, John A., Dutta, Anindya, Guigó, Roderic, Gingeras, Thomas R., Margulies, Elliott H., Weng, Zhiping, Snyder, Michael, Dermitzakis, Emmanouil T., Thurman, Robert E., Kuehn, Michael S., Taylor, Christopher M., Neph, Shane, Koch, Christoph M., Asthana, Saurabh, Malhotra, Ankit, Adzhubei, Ivan, Greenbaum, Jason A., Andrews, Robert M., Flicek, Paul, Boyle, Patrick J., Cao, Hua, Carter, Nigel P., Clelland, Gayle K., Davis, Sean, Day, Nathan, Dhami, Pawandeep, Dillon, Shane C., Dorschner, Michael O., Fiegler, Heike, Giresi, Paul G., Goldy, Jeff, Hawrylycz, Michael, Haydock, Andrew, Humbert, Richard, James, Keith D., Johnson, Brett E., Johnson, Ericka M., Frum, Tristan T., Rosenzweig, Elizabeth R., Karnani, Neerja, Lee, Kirsten, Lefebvre, Gregory C., Navas, Patrick A., Neri, Fidencio, Parker, Stephen C., Sabo, Peter J., Sandstrom, Richard, Shafer, Anthony, Vetrie, David, Weaver, Molly, Wilcox, Sarah, Yu, Man, Collins, Francis S., Dekker, Job, Lieb, Jason D., Tullius, Thomas D., Crawford, Gregory E., Sunyaev, Shamil, Noble, William S., Dunham, Ian, Denoeud, France, Reymond, Alexandre, Kapranov, Philipp, Rozowsky, Joel, Zheng, Deyou, Castelo, Robert, Frankish, Adam, Harrow, Jennifer, Ghosh, Srinka, Sandelin, Albin, Hofacker, Ivo L., Baertsch, Robert, Keefe, Damian, Dike, Sujit, Cheng, Jill, Hirsch, Heather A., Sekinger, Edward A., Lagarde, Julien, Abril, Josep F., Shahab, Atif, Flamm, Christoph, Fried, Claudia, Hackermüller, Jörg, Hertel, Jana, Lindemeyer, Manja, Missal, Kristin, Tanzer, Andrea, Washietl, Stefan, Korbel, Jan, Emanuelsson, Olof, Pedersen, Jakob S., Holroyd, Nancy, Taylor, Ruth, Swarbreck, David, Matthews, Nicholas, Dickson, Mark C., Thomas, Daryl J., Weirauch, Matthew T., Gilbert, James, Drenkow, Jorg, Bell, Ian, Zhao, XiaoDong, Srinivasan, K. G., Sung, Wing-Kin, Ooi, Hong Sain, Chiu, Kuo Ping, Foissac, Sylvain, Alioto, Tyler, Brent, Michael, Pachter, Lior, Tress, Michael L., Valencia, Alfonso, Choo, Siew Woh, Choo, Chiou Yu, Ucla, Catherine, Manzano, Caroline, Wyss, Carine, Cheung, Evelyn, Clark, Taane G., Brown, James B., Ganesh, Madhavan, Patel, Sandeep, Tammana, Hari, Chrast, Jacqueline, Henrichsen, Charlotte N., Kai, Chikatoshi, Kawai, Jun, Nagalakshmi, Ugrappa, Wu, Jiaqian, Lian, Zheng, Lian, Jin, Newburger, Peter, Zhang, Xueqing, Bickel, Peter, Mattick, John S., Carninci, Piero, Hayashizaki, Yoshihide, Weissman, Sherman, Hubbard, Tim, Myers, Richard M., Rogers, Jane, Stadler, Peter F., Lowe, Todd M., Wei, Chia-Lin, Ruan, Yijun, Struhl, Kevin, Gerstein, Mark, Antonarakis, Stylianos E., Fu, Yutao, Green, Eric D., Karaöz, U., Siepel, Adam, Taylor, James, Liefer, Laura A, Wetterstrand, Kris A., Good, Peter J., Feingold, Elise A., Guyer, Mark S., Cooper, Gregory M., Asimenos, George, Dewey, Colin N., Hou, Minmei, Nikolaev, Sergey, Montoya-Burgos, Juan I., Löytynoja, Ari, Whelan, Simon, Pardi, Fabio, Massingham, Tim, Huang, Haiyan, Zhang, Nancy R., Holmes, Ian, Mullikin, James C., Ureta-Vidal, Abel, Paten, Benedict, Seringhaus, Michael, Church, Deanna, Rosenbloom, Kate, Kent, W. James, Stone, Eric A., Batzoglou, Serafim, Goldman, Nick, Hardison, Ross C., Haussler, David, Miller, Webb, Sidow, Arend, Trinklein, Nathan D., Zhang, Zhengdong D., Barrera, Leah, Stuart, Rhona, King, David C., Ameur, Adam, Enroth, Stefan, Bieda, Mark C., Kim, Jonghwan, Bhinge, Akshay A., Jiang, Nan, Liu, Jun, Yao, Fei, Vega, Vinsensius B., Lee, Charlie W., Ng, Patrick, Yang, Annie, Moqtaderi, Zarmik, Zhu, Zhou, Xu, Xiaoqin, Squazzo, Sharon, Oberley, Matthew J., Inman, David, Singer, Michael A., Richmond, Todd A., Munn, Kyle J., Rada-Iglesias, Alvaro, Wallerman, Ola, Komorowski, Jan, Fowler, Joanna C., Couttet, Phillippe, Bruce, Alexander W., Dovey, Oliver M., Ellis, Peter D., Langford, Cordelia F., Nix, David A., Euskirchen, Ghia, Hartman, Stephen, Urban, Alexander E., Kraus, Peter, Van Calcar, Sara, Heintzman, Nate, Kim, Tae Hoon, Wang, Kun, Qu, Chunxu, Hon, Gary, Luna, Rosa, Glass, Christopher K., Rosenfeld, M. Geoff, Aldred, Shelley Force, Cooper, Sara J., Halees, Anason, Lin, Jane M., Shulha, Hennady P., Zhang, Xiaoling, Xu, Mousheng, Haidar, Jaafar N., Yu, Yong, Iyer, Vishwanath R., Green, Roland D., Wadelius, Claes, Farnham, Peggy J., Ren, Bing, Harte, Rachel A., Hinrichs, Angie S., Trumbower, Heather, Clawson, Hiram, Hillman-Jackson, Jennifer, Zweig, Ann S., Smith, Kayla, Thakkapallayil, Archana, Barber, Galt, Kuhn, Robert M., Karolchik, Donna, Armengol, Lluis, Bird, Christine P., de Bakker, Paul I., Kern, Andrew D., Lopez-Bigas, Nuria, Martin, Joel D., Stranger, Barbara E., Woodroffe, Abigail, Davydov, Eugene, Dimas, Antigone, Eyras, Eduardo, Hallgrí­msdóttir, Ingileif B., Huppert, Julian, Zody, Michael C., Abecasis, G. R., Estivill, Xavier, Bouffard, Gerard G., Guan, Xiaobin, Hansen, Nancy F., Idol, Jacquelyn R., Maduro, Valerie V., Maskeri, Baishali, McDowell, Jennifer C., Park, Morgan, Thomas, Pamela J., Young, Alice C., Blakesley, Robert W., Muzny, Donna M., Sodergren, Erica, Wheeler, David A., Worley, Kim C., Jiang, Huaiyang, Weinstock, George M., Gibbs, Richard A., Graves, Tina, Fulton, Robert, Mardis, Elaine R., Wilson, Richard K., Clamp, Michele, Cuff, James, Gnerre, Sante, Jaffe, David B., Chang, Jean L., Lindblad-Toh, Kerstin, Lander, Eric S., Koriabine, Maxim, Nefedov, Mikhail, Osoegawa, Kazutoyo, Yoshinaga, Yuko, Zhu, Baoli, de Jong, Pieter J.

    المصدر: Nature. 447(7146):799-816

    وصف الملف: print

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    المصدر: Nature. 447(7141):167-177

    وصف الملف: print

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