Výsledky vyhledávání - Thomas J. Nicholls
- Zobrazuji výsledky 1 - 16 z 16
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Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease Autor Thomas J. Nicholls, Gábor Zsurka, Viktoriya Peeva, Susanne Schöler, Roman J. Szczęsny, Dominik Cysewski, Aurelio Reyes, Cornelia Kornblum, Monica Sciacco, Maurizio Moggio, Andrzej Dziembowski, Wolfram S. Kunz, Michal Minczuk
Vydáno 2014Artigo -
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The human mitochondrial genome contains a second light strand promoter Autor Benedict G. Tan, Christian D. Mutti, Yonghong Shi, Xie Xie, Xuefeng Zhu, Pedro Silva-Pinheiro, Katja E. Menger, Héctor Díaz-Maldonado, Wei Wei, Thomas J. Nicholls, Patrick F. Chinnery, Michal Minczuk, Maria Falkenberg, Claes M. Gustafsson
Vydáno 2022Artigo -
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Mice lacking the mitochondrial exonuclease MGME1 accumulate mtDNA deletions without developing progeria Autor Stanka Matic, Min Jiang, Thomas J. Nicholls, Jay P. Uhler, Caren Dirksen-Schwanenland, Paola Loguercio Polosa, Marie-Lune Simard, Xinping Li, Ilian Atanassov, Oliver Rackham, Aleksandra Filipovska, James B. Stewart, Maria Falkenberg, Nils‐Göran Larsson, Dusanka Milenkovic
Vydáno 2018Artigo -
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Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA Autor Thomas J. Nicholls, Cristina A. Nadalutti, Elisa Motori, Ewen W. Sommerville, Gráinne S. Gorman, Swaraj Basu, Emily Hoberg, Douglass M. Turnbull, Patrick F. Chinnery, Nils‐Göran Larsson, Erik Larsson, Maria Falkenberg, Robert W. Taylor, Jack D. Griffith, Claes M. Gustafsson
Vydáno 2017Artigo -
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ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy Autor Tobias B. Haack, Robert Kopajtich, Peter Freisinger, Thomas Wieland, Joanna Rorbach, Thomas J. Nicholls, Enrico Baruffini, Anett Walther, Katharina Danhauser, Franz Zimmermann, Ralf A. Husain, Jessica Schum, Helen Mundy, Ileana Ferrero, Tim M. Strom, Thomas Meitinger, Robert W. Taylor, Michal Minczuk, Johannes A. Mayr, Holger Prokisch
Vydáno 2013Artigo -
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The mitochondrial single-stranded DNA binding protein is essential for initiation of mtDNA replication Autor Min Jiang, Xie Xie, Xuefeng Zhu, Shan Jiang, Dusanka Milenkovic, Jelena Misic, Yonghong Shi, Nirwan Tandukar, Xinping Li, Ilian Atanassov, Louise Jenninger, Emily Hoberg, Sara Albarran-Gutierrez, Zsolt Szilágyi, Bertil Macao, Stefan J. Siira, Valério Carelli, Jack D. Griffith, Claes M. Gustafsson, Thomas J. Nicholls, Aleksandra Filipovska, Nils‐Göran Larsson, Maria Falkenberg
Vydáno 2021Artigo -
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Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease Autor Cornelia Kornblum, Thomas J. Nicholls, Tobias B. Haack, Susanne Schöler, Viktoriya Peeva, Katharina Danhauser, Kerstin Hallmann, Gábor Zsurka, Joanna Rorbach, Arcangela Iuso, Thomas Wieland, Monica Sciacco, Dario Ronchi, Giacomo P. Comi, Maurizio Moggio, Catarina M. Quinzii, Salvatore DiMauro, Sarah E. Calvo, Vamsi K. Mootha, Thomas Klopstock, Tim M. Strom, Thomas Meitinger, Michal Minczuk, Wolfram S. Kunz, Holger Prokisch
Vydáno 2013Artigo -
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Pathological variants in <i>TOP3A</i> cause distinct disorders of mitochondrial and nuclear genome stability Autor Direnis Erdinc, Alejandro Rodríguez‐Luis, Mahmoud R. Fassad, Sarah Mackenzie, Christopher M. Watson, Sebastian Valenzuela, Xie Xie, Katja E. Menger, Kate Sergeant, Kate Craig, Sila Hopton, Gavin Falkous, Joanna Poulton, Héctor García‐Moreno, Paola Giunti, Carlos Alberto de Moura Aschoff, Jonas Alex Morales Saute, Amelia Jeanne Kirby, Camilo Toro, Lynne A. Wolfe, Danica Novacic, Lior Greenbaum, Aviva Eliyahu, Ortal Barel, Yair Anikster, Robert McFarland, Gráinne S. Gorman, Andrew M. Schaefer, Claes M. Gustafsson, Robert W. Taylor, Maria Falkenberg, Thomas J. Nicholls
Vydáno 2023Artigo -
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Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy Autor Robert Kopajtich, Thomas J. Nicholls, Joanna Rorbach, Metodi D. Metodiev, Peter Freisinger, Hanna Mandel, Arnaud Vanlander, Daniele Ghezzi, Rosalba Carrozzo, Robert W. Taylor, Klaus Marquard, Kei Murayama, Thomas Wieland, Thomas Schwarzmayr, Johannes A. Mayr, Sarah F. Pearce, Christopher A. Powell, Ann Saada, Akira Ohtake, Federica Invernizzi, Eleonora Lamantea, Ewen W. Sommerville, Angela Pyle, Patrick F. Chinnery, Ellen Crushell, Yasushi Okazaki, Masakazu Kohda, Yoshihito Kishita, Yoshimi Tokuzawa, Zahra Assouline, Marlène Rio, François Feillet, B. Mousson de Camaret, Dominique Chrétien, Arnold Münnich, Björn Menten, Tom Sante, Joél Smet, Luc Régal, Abraham Lorber, Asaad Khoury, Massimo Zeviani, Tim M. Strom, Thomas Meitinger, Enrico Bertini, Rudy Van Coster, Thomas Klopstock, Agnès Rötig, Tobias B. Haack, Michal Minczuk, Holger Prokisch
Vydáno 2014Artigo -
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Recurrent horizontal transfer identifies mitochondrial positive selection in a transmissible cancer Autor Andrea Strakova, Thomas J. Nicholls, Adrian Baez‐Ortega, Máire Ní Leathlobhair, Alex Sampson, Katherine Hughes, Isobelle A. G. Bolton, Kevin Gori, Jinhong Wang, Ilona Airikkala‐Otter, Janice L. Allen, Karen M. Allum, Clara L. Arnold, Leontine Bansse-Issa, Thinlay N. Bhutia, Jocelyn Bisson, Kelli Blank, Cristóbal Briceño, Artemio Castillo Domracheva, Anne M. Corrigan, Hugh R. Cran, Jane T. Crawford, Stephen M Cutter, Eric Davis, Karina Ferreira de Castro, Andrígo Barboza De Nardi, Anna P. de Vos, Laura Keenan, Edward M. Donelan, Adela R. Espinoza Huerta, Ibikunle A. Faramade, Mohammed Fazil, Eleni Fotopoulou, Skye N. Fruean, Fanny Gallardo-Arrieta, Olga Glebova, Pagona G. Gοuletsοu, Rodrigo F. Häfelin Manrique, Joaquim Henriques, Rodrigo dos Santos Horta, Natalia A. Ignatenko, Yaghouba Kane, Cathy King, Debbie Koenig, A. Krupa, Steven J. Kruzeniski, Marta Lanza‐Perea, Mihran Lazyan, Adriana M. Lopez Quintana, Thibault Losfelt, Gabriele Marino, José Simón Martínez-Castañeda, Mayra Fernanda Martínez-López, Bedan M. Masuruli, Michael J. Meyer, Edward J. Migneco, Berna Nakanwagi, Karter B. Neal, Winifred Neunzig, Sally J. Nixon, Antonio Ortega‐Pacheco, Francisco Pedraza, Maria C. Peleteiro, Katherine Polak, Ruth J. Pye, Juan C. Ramirez-Ante, John F. Reece, Jose Rojas Gutierrez, Haleema Sadia, Sheila K. Schmeling, Olga Shamanova, Alan G. Sherlock, Audrey E. Steenland-Smit, Alla Svitich, Lester J. Tapia Martínez, Ismail Thoya Ngoka, Cristian G. Torres, Elizabeth M. Tudor, Mirjam G. van der Wel, Bogdan Alexandru Vițălaru, Sevil Atalay Vural, Oliver Walkinton, Alvaro Wehrle-Martinez, Sophie A. E. Widdowson, Irina Zvarich, Patrick F. Chinnery, Maria Falkenberg, Claes M. Gustafsson, Elizabeth P. Murchison
Vydáno 2020Artigo
Vyhledávací nástroje:
Související témata
Biology
Gene
Genetics
Mitochondrial DNA
Mitochondrion
Cell biology
RNA
Molecular biology
DNA
DNA replication
Genome
Human mitochondrial genetics
Messenger RNA
Mitochondrial disease
Translation (biology)
Linguistics
Philosophy
Polymerase
Transcription (linguistics)
Allele
Chemistry
Chronic progressive external ophthalmoplegia
DNAJA3
Exonuclease
Haplotype
MT-RNR1
Mitochondrial myopathy
Mutation
Nuclear gene
Organic chemistry