Výsledky vyhledávání - Natalia Gomez‐Ospina

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  1. 1
    Genome Editing for Mucopolysaccharidoses

    Genome Editing for Mucopolysaccharidoses Autor Édina Poletto, Guilherme Baldo, Natalia Gomez‐Ospina

    Vydáno 2020
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  2. 2
    Editorial: Ex-vivo and in-vivo genome engineering for metabolic and neurometabolic diseases

    Editorial: Ex-vivo and in-vivo genome engineering for metabolic and neurometabolic diseases Autor Pasqualina Colella, Vasco Meneghini, Guilherme Baldo, Natalia Gomez‐Ospina

    Vydáno 2023
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  3. 3
    Tomographic Evidence for Continuous Turnover of Golgi Cisternae in<i>Pichia pastoris</i>

    Tomographic Evidence for Continuous Turnover of Golgi Cisternae in<i>Pichia pastoris</i> Autor Søren Møgelsvang, Natalia Gomez‐Ospina, Jon Soderholm, Benjamin S. Glick, L. Andrew Staehelin

    Vydáno 2003
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  4. 4
    The C Terminus of the L-Type Voltage-Gated Calcium Channel CaV1.2 Encodes a Transcription Factor

    The C Terminus of the L-Type Voltage-Gated Calcium Channel CaV1.2 Encodes a Transcription Factor Autor Natalia Gomez‐Ospina, Fuminori Tsuruta, Odmara L. Barreto Chang, Linda Hu, Ricardo E. Dolmetsch

    Vydáno 2006
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  5. 5
    Improved engraftment and therapeutic efficacy by human genome-edited hematopoietic stem cells with Busulfan-based myeloablation

    Improved engraftment and therapeutic efficacy by human genome-edited hematopoietic stem cells with Busulfan-based myeloablation Autor Édina Poletto, Pasqualina Colella, Luisa N. Pimentel Vera, Shaukat Khan, Shunji Tomatsu, Guilherme Baldo, Natalia Gomez‐Ospina

    Vydáno 2022
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  6. 6
    Engineering monocyte/macrophage−specific glucocerebrosidase expression in human hematopoietic stem cells using genome editing

    Engineering monocyte/macrophage−specific glucocerebrosidase expression in human hematopoietic stem cells using genome editing Autor Samantha G. Scharenberg, Édina Poletto, Katherine L. Lucot, Pasqualina Colella, Adam Sheikali, Thomas J. Montine, Matthew H. Porteus, Natalia Gomez‐Ospina

    Vydáno 2020
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  7. 7
    Author Correction: Engineering monocyte/macrophage−specific glucocerebrosidase expression in human hematopoietic stem cells using genome editing

    Author Correction: Engineering monocyte/macrophage−specific glucocerebrosidase expression in human hematopoietic stem cells using genome editing Autor Samantha G. Scharenberg, Édina Poletto, Katherine L. Lucot, Pasqualina Colella, Adam Sheikali, Thomas J. Montine, Matthew H. Porteus, Natalia Gomez‐Ospina

    Vydáno 2020
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  8. 8
    Identification of Pre-Existing Adaptive Immunity to Cas9 Proteins in Humans

    Identification of Pre-Existing Adaptive Immunity to Cas9 Proteins in Humans Autor Carsten T. Charlesworth, Priyanka S. Deshpande, Daniel P. Dever, Beruh Dejene, Natalia Gomez‐Ospina, Sruthi Mantri, Mara Pavel-Dinu, Joab Camarena, Kenneth I. Weinberg, Matthew H. Porteus

    Vydáno 2018
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  9. 9
    CNS-wide repopulation by hematopoietic-derived microglia-like cells corrects progranulin deficiency in mice

    CNS-wide repopulation by hematopoietic-derived microglia-like cells corrects progranulin deficiency in mice Autor Pasqualina Colella, Ruhi Sayana, María Valentina Suárez-Nieto, Jolanda Sarno, Kwamina Nyame, Jian Xiong, Luisa Natália Pimentel Vera, Jessica Arozqueta Basurto, Marco Corbo, Anay Limaye, Kara L. Davis, Monther Abu-Remaileh, Natalia Gomez‐Ospina

    Vydáno 2024
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  10. 10
    CRISPR/Cas9 Genome Engineering in Engraftable Human Brain-Derived Neural Stem Cells

    CRISPR/Cas9 Genome Engineering in Engraftable Human Brain-Derived Neural Stem Cells Autor Daniel P. Dever, Samantha G. Scharenberg, Joab Camarena, Eric Kildebeck, Joseph T. Clark, Renata M. Martin, Rasmus O. Bak, Yuming Tang, Monika Dohse, Johannes Birgmeier, Karthik A. Jagadeesh, Gill Bejerano, Ann Tsukamoto, Natalia Gomez‐Ospina, Nobuko Uchida, Matthew H. Porteus

    Vydáno 2019
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  11. 11
    Human genome-edited hematopoietic stem cells phenotypically correct Mucopolysaccharidosis type I

    Human genome-edited hematopoietic stem cells phenotypically correct Mucopolysaccharidosis type I Autor Natalia Gomez‐Ospina, Samantha G. Scharenberg, Nathalie Mostrel, Rasmus O. Bak, Sruthi Mantri, Rolen M. Quadros, Channabasavaiah B. Gurumurthy, Ciaran M. Lee, Gang Bao, Carlos J. Suarez, Shaukat Khan, Kazuki Sawamoto, Shunji Tomatsu, Nitin Raj, Laura D. Attardi, Laure Aurelian, Matthew H. Porteus

    Vydáno 2019
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  12. 12
    Identification of preexisting adaptive immunity to Cas9 proteins in humans

    Identification of preexisting adaptive immunity to Cas9 proteins in humans Autor Carsten T. Charlesworth, Priyanka S. Deshpande, Daniel P. Dever, Joab Camarena, Viktor T. Lemgart, M. Kyle Cromer, Christopher A. Vakulskas, Michael A. Collingwood, Liyang Zhang, Nicole M. Bode, Mark A. Behlke, Beruh Dejene, Brandon Cieniewicz, Rosa Romano, Benjamin J. Lesch, Natalia Gomez‐Ospina, Sruthi Mantri, Mara Pavel-Dinu, Kenneth I. Weinberg, Matthew H. Porteus

    Vydáno 2019
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  13. 13
    A high-fidelity Cas9 mutant delivered as a ribonucleoprotein complex enables efficient gene editing in human hematopoietic stem and progenitor cells

    A high-fidelity Cas9 mutant delivered as a ribonucleoprotein complex enables efficient gene editing in human hematopoietic stem and progenitor cells Autor Christopher A. Vakulskas, Daniel P. Dever, Garrett R. Rettig, Rolf Turk, Ashley M. Jacobi, Michael A. Collingwood, Nicole M. Bode, Matthew McNeill, Shuqi Yan, Joab Camarena, Ciaran M. Lee, So Hyun Park, Volker Wiebking, Rasmus O. Bak, Natalia Gomez‐Ospina, Mara Pavel-Dinu, Wenchao Sun, Gang Bao, Matthew H. Porteus, Mark A. Behlke

    Vydáno 2018
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  14. 14
    De Novo Mutations in CHD4 , an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms

    De Novo Mutations in CHD4 , an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms Autor Karin Weiss, Paulien A. Terhal, Lior Cohen, Michael Bruccoleri, Melita Irving, Ariel F. Martinez, Jill A. Rosenfeld, Keren Machol, Yaping Yang, Pengfei Liu, Magdalena Walkiewicz, Joke Beuten, Natalia Gomez‐Ospina, Katrina Haude, Chin-To Fong, Gregory M. Enns, Jonathan A. Bernstein, Judith Fan, Garrett Gotway, Mohammad Ghorbani, Koen L.I. van Gassen, Glen R. Monroe, Gijs van Haaften, Lina Basel‐Vanagaite, Xiang‐Jiao Yang, Philippe M. Campeau, Maximilian Muenke

    Vydáno 2016
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  15. 15
    Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis

    Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis Autor Natalia Gomez‐Ospina, Carol Potter, Rui Xiao, Kandamurugu Manickam, Mi-Sun Kim, Kang Ho Kim, Benjamin L. Shneider, Jennifer Picarsic, Theodora A. Jacobson, Jing Zhang, Weimin He, Pengfei Liu, Alexander S. Knisely, Milton J. Finegold, Donna M. Muzny, Eric Boerwinkle, James R. Lupski, Sharon E. Plon, Richard A. Gibbs, Christine M. Eng, Yaping Yang, Gabriel C. Washington, Matthew H. Porteus, William E. Berquist, Neeraja Kambham, Ravinder J. Singh, Fan Xia, Gregory M. Enns, David D. Moore

    Vydáno 2016
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  16. 16
    Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly

    Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly Autor Diana Alcantara, Andrew E. Timms, Karen W. Gripp, Laura Baker, Kaylee Park, Sarah Collins, Chi Vicky Cheng, Fiona Stewart, Sarju Mehta, Anand Saggar, László Sztriha, Melinda Zombor, Oana Caluseriu, Ronit Mesterman, Margot I. Van Allen, Adeline Jacquinet, Sofia Ygberg, Jonathan A. Bernstein, Aaron M. Wenger, Harendra Guturu, Gill Bejerano, Natalia Gomez‐Ospina, Anna Lehman, Enrico Alfei, Chiara Pantaleoni, Valerio Conti, Renzo Guerrini, Ute Moog, John M. Graham, Robert F. Hevner, William B. Dobyns, Mark O’Driscoll, Ghayda Mirzaa

    Vydáno 2017
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  17. 17
    DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

    DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies Autor Jianling Ji, Hane Lee, Bob Argiropoulos, Naghmeh Dorrani, John Mann, Julián A. Martínez-Agosto, Natalia Gomez‐Ospina, Natalie M. Gallant, Jonathan A. Bernstein, Louanne Hudgins, Leah Slattery, Bertrand Isidor, Cédric Le Caignec, Albert David, Ewa Obersztyn, Barbara Wiśniowiecka‐Kowalnik, Michelle Fox, Joshua L. Deignan, Éric Vilain, Emily Hendricks, Margaret Harr, Sarah E. Noon, Jessi R Jackson, Alisha Wilkens, Ghayda Mirzaa, Noriko Salamon, Jeff Abramson, Elaine H. Zackai, Ian D. Krantz, A. Micheil Innes, Stanley F. Nelson, Wayne W. Grody, Fabiola Quintero‐Rivera

    Vydáno 2015
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  18. 18
    Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy

    Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy Autor Katharina Danhauser, Bader Alhaddad, Christine Makowski, Dorota Piekutowska‐Abramczuk, Steffen Syrbe, Natalia Gomez‐Ospina, Melanie A. Manning, Anna Kostera‐Pruszczyk, Claudia Krahn-Peper, Riccardo Berutti, Réka Kovács-Nagy, Mirjana Gušić, Elisabeth Graf, Lucia Laugwitz, Michaela Röblitz, Andreas Wroblewski, Hans Hartmann, Anibh M. Das, Eva Bültmann, Fang Fang, Manting Xu, Ulrich A. Schatz, Daniela Karall, Herta Zellner, Edda Haberlandt, René G. Feichtinger, Johannes A. Mayr, Thomas Meitinger, Holger Prokisch, Tim M. Strom, Rafał Płoski, Georg F. Hoffmann, Maciej Pronicki, Penelope E. Bonnen, Susanne Morlot, Tobias B. Haack

    Vydáno 2018
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  19. 19
    Molecular and clinical spectra of FBXL4 deficiency

    Molecular and clinical spectra of FBXL4 deficiency Autor Ayman W. El‐Hattab, Hongzheng Dai, Mohammed Almannai, Julia Wang, Eissa Faqeih, Ali Al Asmari, Mohammed A. Saleh, Mohammed Elamin, Majid Alfadhel, Fowzan S. Alkuraya, Mais Hashem, Mazhor Aldosary, Rawan Almass, Faten Almutairi, Maysoon Alsagob, Mohammed Al‐Owain, Shirin Al-Sharfa, Zuhair N. Al‐Hassnan, Zuhair Rahbeeni, Mohammad A. Al–Muhaizea, Nawal Makhseed, Gretchen Kissel Foskett, David A. Stevenson, Natalia Gomez‐Ospina, Chung Lee, Richard G. Boles, Samantha A. Schrier Vergano, Saskia B. Wortmann, Wolfgang Sperl, Thomas Opladen, Georg F. Hoffmann, Maja Hempel, Holger Prokisch, Bader Alhaddad, Johannes A. Mayr, Wenyaw Chan, Namik Kaya, Lee‐Jun C. Wong

    Vydáno 2017
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