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Items: 1 to 20 of 32

1.
Genetic determinants of micronucleus formation in vivo
D. J. Adams, B. Barlas, R. E. McIntyre, I. Salguero, L. van der Weyden, A. Barros, J. R. Vicente, N. Karimpour, A. Haider, M. Ranzani, G. Turner, N. A. Thompson, V. Harle, R. Olvera-León, C. D. Robles-Espinoza, A. O. Speak, N. Geisler, W. J. Weninger, S. H. Geyer, J. Hewinson, N. A. Karp, The Sanger Mouse Genetics Project, B. Fu, F. Yang, Z. Kozik, J. Choudhary, L. Yu, M. S. van Ruiten, B. D. Rowland, C. J. Lelliott, M. del Castillo Velasco-Herrera, R. Verstraten, L. Bruckner, A. G. Henssen, M. A. Rooimans, J. de Lange, T. J. Mohun, M. J. Arends, K. A. Kentistou, P. A. Coelho, Y. Zhao, H. Zecchini, J. R. B. Perry, S. P. Jackson, G. Balmus
Nature. 2024; 627(8002): 130–136. Published online 2024 Feb 14. doi: 10.1038/s41586-023-07009-0
PMCID:
PMC10917660
AbstractArticlePDF–4.8M
2.
Senataxin and RNase H2 act redundantly to suppress genome instability during class switch recombination
Hongchang Zhao, Stella R Hartono, Kirtney Mae Flores de Vera, Zheyuan Yu, Krishni Satchi, Tracy Zhao, Roger Sciammas, Lionel Sanz, Frédéric Chédin, Jacqueline Barlow
eLife. 2022; 11: e78917. Published online 2022 Dec 21. doi: 10.7554/eLife.78917
PMCID:
PMC9771370
AbstractArticlePDF–3.4M
3.
TLR7 gain-of-function genetic variation causes human lupus
Grant J. Brown, Pablo F. Cañete, Hao Wang, Arti Medhavy, Josiah Bones, Jonathan A. Roco, Yuke He, Yuting Qin, Jean Cappello, Julia I. Ellyard, Katharine Bassett, Qian Shen, Gaetan Burgio, Yaoyuan Zhang, Cynthia Turnbull, Xiangpeng Meng, Phil Wu, Eun Cho, Lisa A. Miosge, T. Daniel Andrews, Matt A. Field, Denis Tvorogov, Angel F. Lopez, Jeffrey J. Babon, Cristina Aparicio López, África Gónzalez-Murillo, Daniel Clemente Garulo, Virginia Pascual, Tess Levy, Eric J. Mallack, Daniel G. Calame, Timothy Lotze, James R. Lupski, Huihua Ding, Tomalika R. Ullah, Giles D. Walters, Mark E. Koina, Matthew C. Cook, Nan Shen, Carmen de Lucas Collantes, Ben Corry, Michael P. Gantier, Vicki Athanasopoulos, Carola G. Vinuesa
Nature. 2022; 605(7909): 349–356. Published online 2022 Apr 27. doi: 10.1038/s41586-022-04642-z
PMCID:
PMC9095492
AbstractArticlePDF–15M
4.
Signatures of TOP1 transcription-associated mutagenesis in cancer and germline
Martin A. M. Reijns, David A. Parry, Thomas C. Williams, Ferran Nadeu, Rebecca L. Hindshaw, Diana O. Rios Szwed, Michael D. Nicholson, Paula Carroll, Shelagh Boyle, Romina Royo, Alex J. Cornish, Hang Xiang, Kate Ridout, The Genomics England Research Consortium, Colorectal Cancer Domain UK 100,000 Genomes Project, Anna Schuh, Konrad Aden, Claire Palles, Elias Campo, Tatjana Stankovic, Martin S. Taylor, Andrew P. Jackson
Nature. 2022; 602(7898): 623–631. Published online 2022 Feb 9. doi: 10.1038/s41586-022-04403-y
Correction in:
Nature. 2022; 605(7910): E7.
PMCID:
PMC8866115
AbstractArticlePDF–6.9M
5.
Genome Instability Independent of Type I Interferon Signaling Drives Neuropathology Caused by Impaired Ribonucleotide Excision Repair
Aditi, Susanna M. Downing, Patrick A. Schreiner, Young Don Kwak, Yang Li, Timothy I. Shaw, Helen R. Russell, Peter J. McKinnon
Neuron. Author manuscript; available in PMC 2022 Dec 15.
Published in final edited form as: Neuron. 2021 Dec 15; 109(24): 3962–3979.e6. Published online 2021 Oct 15. doi: 10.1016/j.neuron.2021.09.040
PMCID:
PMC8686690
AbstractArticlePDF–4.1M
6.
Epithelial XBP1 coordinates TP53-driven DNA damage responses and suppression of intestinal carcinogenesis
Lina Welz, Nassim Kakavand, Xiang Hang, Georg Laue, Go Ito, Miguel Gomes Silva, Christina Plattner, Neha Mishra, Felicitas Tengen, Christoph Ogris, Moritz Jesinghaus, Felix Wottawa, Philipp Arnold, Leena Kaikkonen, Stefanie Stengel, Florian Tran, Saumya Das, Arthur Kaser, Zlatko Trajanoski, Richard Blumberg, Christoph Roecken, Dieter Saur, Markus Tschurtschenthaler, Stefan Schreiber, Philip Rosenstiel, Konrad Aden
Gastroenterology. Author manuscript; available in PMC 2023 Jan 1.
Published in final edited form as: Gastroenterology. 2022 Jan; 162(1): 223–237.e11. Published online 2021 Sep 30. doi: 10.1053/j.gastro.2021.09.057
PMCID:
PMC8678303
AbstractArticlePDF–2.5M
7.
RNases H1 and H2: guardians of the stability of the nuclear genome when supply of dNTPs is limiting for DNA synthesis
Susana M. Cerritelli, Aziz El Hage
Curr Genet. Author manuscript; available in PMC 2021 Oct 23.
Published in final edited form as: Curr Genet. 2020 Dec; 66(6): 1073–1084. Published online 2020 Sep 4. doi: 10.1007/s00294-020-01086-8
PMCID:
PMC8541835
AbstractArticlePDF–805K
8.
Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development
Francesco Bedogni, Robert F. Hevner
Front Mol Neurosci. 2021; 14: 686034. Published online 2021 Jul 12. doi: 10.3389/fnmol.2021.686034
PMCID:
PMC8313239
AbstractArticlePDF–1.6M
9.
BraInMap elucidates the macromolecular connectivity landscape of mammalian brain
Reza Pourhaghighi, Peter E. A. Ash, Sadhna Phanse, Florian Goebels, Lucas Z. M. Hu, Siwei Chen, Yingying Zhang, Shayne D. Wierbowski, Samantha Boudeau, Mohamed T. Moutaoufik, Ramy H. Malty, Edyta Malolepsza, Kalliopi Tsafou, Aparna Nathan, Graham Cromar, Hongbo Guo, Ali Al Abdullatif, Daniel J. Apicco, Lindsay A. Becker, Aaron D. Gitler, Stefan M. Pulst, Ahmed Youssef, Ryan Hekman, Pierre C. Havugimana, Carl A. White, Benjamin C. Blum, Antonia Ratti, Camron D. Bryant, John Parkinson, Kasper Lage, Mohan Babu, Haiyuan Yu, Gary D. Bader, Benjamin Wolozin, Andrew Emili
Cell Syst. Author manuscript; available in PMC 2021 Apr 22.
Published in final edited form as: Cell Syst. 2020 Apr 22; 10(4): 333–350.e14. doi: 10.1016/j.cels.2020.03.003
Correction in:
Cell Syst. 2020 Aug 26; 11(2): 208.
PMCID:
PMC7938770
AbstractArticlePDF–2.0M
10.
Ribonucleotide excision repair is essential to prevent squamous cell carcinoma of the skin.
Björn Hiller, Anja Hoppe, Christa Haase, Christina Hiller, Nadja Schubert, Werner Müller, Martin A. M. Reijns, Andrew P. Jackson, Thomas A. Kunkel, Jörg Wenzel, Rayk Behrendt, Axel Roers
Cancer Res. Author manuscript; available in PMC 2019 May 20.
Published in final edited form as: Cancer Res. 2018 Oct 15; 78(20): 5917–5926. Published online 2018 Aug 28. doi: 10.1158/0008-5472.CAN-18-1099
PMCID:
PMC6526525
AbstractArticlePDF–1.8M
11.
Mouse screen reveals multiple new genes underlying mouse and human hearing loss
Neil J. Ingham, Selina A. Pearson, Valerie E. Vancollie, Victoria Rook, Morag A. Lewis, Jing Chen, Annalisa Buniello, Elisa Martelletti, Lorenzo Preite, Chi Chung Lam, Felix D. Weiss, Zӧe Powis, Pim Suwannarat, Christopher J. Lelliott, Sally J. Dawson, Jacqueline K. White, Karen P. Steel
PLoS Biol. 2019 Apr; 17(4): e3000194. Published online 2019 Apr 11. doi: 10.1371/journal.pbio.3000194
PMCID:
PMC6459510
AbstractArticlePDF–5.1M
12.
Epithelial RNase H2 Maintains Genome Integrity and Prevents Intestinal Tumorigenesis in Mice
Konrad Aden, Kareen Bartsch, Joseph Dahl, Martin A.M. Reijns, Daniela Esser, Raheleh Sheibani-Tezerji, Anupam Sinha, Felix Wottawa, Go Ito, Neha Mishra, Katharina Knittler, Adam Burkholder, Lina Welz, Johan van Es, Florian Tran, Simone Lipinski, Nassim Kakavand, Christine Boeger, Ralph Lucius, Witigo von Schoenfels, Clemens Schafmayer, Lennart Lenk, Athena Chalaris, Hans Clevers, Christoph Röcken, Christoph Kaleta, Stefan Rose-John, Stefan Schreiber, Thomas Kunkel, Björn Rabe, Philip Rosenstiel
Gastroenterology. 2019 Jan; 156(1): 145–159.e19. doi: 10.1053/j.gastro.2018.09.047
PMCID:
PMC6311085
AbstractArticle
13.
RNase H2 Loss in Murine Astrocytes Results in Cellular Defects Reminiscent of Nucleic Acid-Mediated Autoinflammation
Kareen Bartsch, Markus Damme, Tommy Regen, Lore Becker, Lillian Garrett, Sabine M Hölter, Katharina Knittler, Christopher Borowski, Ari Waisman, Markus Glatzel, Helmut Fuchs, Valerie Gailus-Durner, Martin Hrabe de Angelis, Björn Rabe
Front Immunol. 2018; 9: 587. Published online 2018 Mar 29. doi: 10.3389/fimmu.2018.00587
PMCID:
PMC5890188
AbstractArticlePDF–3.2M
14.
cGAS surveillance of micronuclei links genome instability to innate immunity
Karen J. Mackenzie, Paula Carroll, Carol-Anne Martin, Olga Murina, Adeline Fluteau, Daniel Simpson, Nelly Olova, Hannah Sutcliffe, Jacqueline Rainger, Andrea Robertson, Ruby Osborn, Ann Wheeler, Marcin Nowotny, Nick Gilbert, Tamir Chandra, Martin A. M. Reijns, Andrew P. Jackson
Nature. Author manuscript; available in PMC 2018 Mar 27.
Published in final edited form as: Nature. 2017 Aug 24; 548(7668): 461–465. Published online 2017 Jul 24. doi: 10.1038/nature23449
PMCID:
PMC5870830
AbstractArticlePDF–4.1M
15.
cGAS‐STING do it again: pivotal role in RNase H2 genetic disease
Matteo Gentili, Nicolas Manel
EMBO J. 2016 Apr 15; 35(8): 796–797. Published online 2016 Mar 24. doi: 10.15252/embj.201694226
PMCID:
PMC4972133
AbstractArticlePDF–174K
16.
Ribonuclease H2 mutations induce a cGAS/STING‐dependent innate immune response
Karen J Mackenzie, Paula Carroll, Laura Lettice, Žygimantė Tarnauskaitė, Kaalak Reddy, Flora Dix, Ailsa Revuelta, Erika Abbondati, Rachel E Rigby, Björn Rabe, Fiona Kilanowski, Graeme Grimes, Adeline Fluteau, Paul S Devenney, Robert E Hill, Martin AM Reijns, Andrew P Jackson
EMBO J. 2016 Apr 15; 35(8): 831–844. Published online 2016 Feb 22. doi: 10.15252/embj.201593339
PMCID:
PMC4855687
AbstractArticlePDF–801K
17.
Ribonucleotides Misincorporated into DNA Act as Strand-Discrimination Signals in Eukaryotic Mismatch Repair
Medini Manohar Ghodgaonkar, Federico Lazzaro, Maite Olivera-Pimentel, Mariela Artola-Borán, Petr Cejka, Martin A. Reijns, Andrew P. Jackson, Paolo Plevani, Marco Muzi-Falconi, Josef Jiricny
Mol Cell. 2013 May 9; 50(3): 323–332. doi: 10.1016/j.molcel.2013.03.019
PMCID:
PMC3653069
AbstractArticle
18.
A conditional knockout resource for the genome–wide study of mouse gene function
William C. Skarnes, Barry Rosen, Anthony P. West, Manousos Koutsourakis, Wendy Bushell, Vivek Iyer, Alejandro O. Mujica, Mark Thomas, Jennifer Harrow, Tony Cox, David Jackson, Jessica Severin, Patrick Biggs, Jun Fu, Michael Nefedov, Pieter J. de Jong, A. Francis Stewart, Allan Bradley
Nature. Author manuscript; available in PMC 2013 Feb 14.
Published in final edited form as: Nature. 2011 Jun 15; 474(7351): 337–342. Published online 2011 Jun 15. doi: 10.1038/nature10163
PMCID:
PMC3572410
AbstractArticlePDF–1.1M
19.
Mammalian RNase H2 removes ribonucleotides from DNA to maintain genome integrity
Bjoern Hiller, Martin Achleitner, Silke Glage, Ronald Naumann, Rayk Behrendt, Axel Roers
J Exp Med. 2012 Jul 30; 209(8): 1419–1426. doi: 10.1084/jem.20120876
PMCID:
PMC3409502
AbstractArticlePDF–1.5M
20.
Enzymatic Removal of Ribonucleotides from DNA Is Essential for Mammalian Genome Integrity and Development
Martin A.M. Reijns, Björn Rabe, Rachel E. Rigby, Pleasantine Mill, Katy R. Astell, Laura A. Lettice, Shelagh Boyle, Andrea Leitch, Margaret Keighren, Fiona Kilanowski, Paul S. Devenney, David Sexton, Graeme Grimes, Ian J. Holt, Robert E. Hill, Martin S. Taylor, Kirstie A. Lawson, Julia R. Dorin, Andrew P. Jackson
Cell. 2012 May 25; 149(5): 1008–1022. doi: 10.1016/j.cell.2012.04.011
PMCID:
PMC3383994
AbstractArticle

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