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Select item 114706171.

Murine nuclear tyrosyl-tRNA synthetase deficiency leads to fat storage deficiency and hearing loss

Julia A. Jones, Jiadong Zhou, Jianjie Dong, Salvador Huitron-Resendiz, Ely Boussaty, Eduardo Chavez, Na Wei, Calin Dan Dumitru, Yosuke Morodomi, Taisuke Kanaji, Allen F. Ryan, Rick Friedman, Tong Zhou, Sachiko Kanaji, Matthew Wortham, Simon Schenk, Amanda J. Roberts, Xiang-Lei Yang

J Biol Chem. 2024 Oct; 300(10): 107756. Published online 2024 Sep 12. doi: 10.1016/j.jbc.2024.107756

PMCID:: PMC11470617

Abstract Article PDF–1.4M

Select item 109176602.

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

Abstract Article PDF–4.8M

Select item 103078523.

KCTD13-mediated ubiquitination and degradation of GluN1 regulates excitatory synaptic transmission and seizure susceptibility

Juan Gu, Pingyang Ke, Haokun Guo, Jing Liu, Yan Liu, Xin Tian, Zhuo Huang, Xin Xu, Demei Xu, Yuanlin Ma, Xuefeng Wang, Fei Xiao

Cell Death Differ. 2023 Jul; 30(7): 1726–1741. Published online 2023 May 4. doi: 10.1038/s41418-023-01174-5

PMCID:: PMC10307852

Abstract Article PDF–8.8M

Select item 96038604.

The Deubiquitinating Enzyme USP48 Interacts with the Retinal Degeneration-Associated Proteins UNC119a and ARL3

Laura Sánchez-Bellver, Andrea Férriz-Gordillo, Marc Carrillo-Pz, Laura Rabanal, Francesc R. Garcia-Gonzalo, Gemma Marfany

Int J Mol Sci. 2022 Oct; 23(20): 12527. Published online 2022 Oct 19. doi: 10.3390/ijms232012527

PMCID:: PMC9603860

Abstract Article PDF–3.4M

Select item 91708315.

Precision mouse models of Yars/dominant intermediate Charcot‐Marie‐Tooth disease type C and Sptlc1/hereditary sensory and autonomic neuropathy type 1

Timothy J. Hines, Abigail L. D. Tadenev, Museer A. Lone, Courtney L. Hatton, Inseyah Bagasrawala, Morgane G. Stum, Kathy E. Miers, Thorsten Hornemann, Robert W. Burgess

J Anat. 2022 Nov; 241(5): 1169–1185. Published online 2021 Dec 7. doi: 10.1111/joa.13605

PMCID:: PMC9170831

Abstract Article PDF–4.1M

Select item 89085466.

The integrated stress response contributes to tRNA synthetase-associated peripheral neuropathy

E. L. Spaulding, T. J. Hines, P. Bais, A. L. D. Tadenev, R. Schneider, D. Jewett, B. Pattavina, S. L. Pratt, K. H. Morelli, M. G. Stum, D. P. Hill, C. Gobet, M. Pipis, M. M. Reilly, M. J. Jennings, R. Horvath, Y. Bai, M. E. Shy, B. Alvarez-Castelao, E. M. Schuman, L. P. Bogdanik, E. Storkebaum, R. W. Burgess

Science. Author manuscript; available in PMC 2022 Sep 3.

Published in final edited form as: Science. 2021 Sep 3; 373(6559): 1156–1161. Published online 2021 Sep 1. doi: 10.1126/science.abb3414

PMCID:: PMC8908546

Abstract Article PDF–1.4M

Select item 82666177.

Matrix-screening reveals a vast potential for direct protein-protein interactions among RNA binding proteins

Benjamin Lang, Jae-Seong Yang, Mireia Garriga-Canut, Silvia Speroni, Moritz Aschern, Maria Gili, Tobias Hoffmann, Gian Gaetano Tartaglia, Sebastian P Maurer

Nucleic Acids Res. 2021 Jul 9; 49(12): 6702–6721. Published online 2021 Jun 16. doi: 10.1093/nar/gkab490

PMCID:: PMC8266617

Abstract Article PDF–4.0M

Select item 74317068.

Altered Sensory Neuron Development in CMT2D Mice Is Site-Specific and Linked to Increased GlyRS Levels

James N. Sleigh, Aleksandra M. Mech, Tahmina Aktar, Yuxin Zhang, Giampietro Schiavo

Front Cell Neurosci. 2020; 14: 232. Published online 2020 Aug 11. doi: 10.3389/fncel.2020.00232

PMCID:: PMC7431706

Abstract Article PDF–6.1M

Select item 62627779.

LCP1 preferentially binds clasped αMβ2 integrin and attenuates leukocyte adhesion under flow

Hui-yuan Tseng, Anna V. Samarelli, Patricia Kammerer, Sarah Scholze, Tilman Ziegler, Roland Immler, Roy Zent, Markus Sperandio, Charles R. Sanders, Reinhard Fässler, Ralph T. Böttcher

J Cell Sci. 2018 Nov 15; 131(22): jcs218214. Published online 2018 Nov 21. doi: 10.1242/jcs.218214

PMCID:: PMC6262777

Abstract Article

Select item 624418310.

Complementary proteomics strategies capture an ataxin-1 interactome in Neuro-2a cells

Sunyuan Zhang, Nicholas A. Williamson, Marie A. Bogoyevitch

Sci Data. 2018; 5: 180262. Published online 2018 Nov 20. doi: 10.1038/sdata.2018.262

PMCID:: PMC6244183

Abstract Article PDF–753K

Select item 529582111.

High-throughput discovery of novel developmental phenotypes

Mary E. Dickinson, Ann M. Flenniken, Xiao Ji, Lydia Teboul, Michael D. Wong, Jacqueline K. White, Terrence F. Meehan, Wolfgang J. Weninger, Henrik Westerberg, Hibret Adissu, Candice N. Baker, Lynette Bower, James M. Brown, L. Brianna Caddle, Francesco Chiani, Dave Clary, James Cleak, Mark J. Daly, James M. Denegre, Brendan Doe, Mary E. Dolan, Sarah M. Edie, Helmut Fuchs, Valerie Gailus-Durner, Antonella Galli, Alessia Gambadoro, Juan Gallegos, Shiying Guo, Neil R. Horner, Chih-wei Hsu, Sara J. Johnson, Sowmya Kalaga, Lance C. Keith, Louise Lanoue, Thomas N. Lawson, Monkol Lek, Manuel Mark, Susan Marschall, Jeremy Mason, Melissa L. McElwee, Susan Newbigging, Lauryl M.J. Nutter, Kevin A. Peterson, Ramiro Ramirez-Solis, Douglas J. Rowland, Edward Ryder, Kaitlin E. Samocha, John R. Seavitt, Mohammed Selloum, Zsombor Szoke-Kovacs, Masaru Tamura, Amanda G Trainor, Ilinca Tudose, Shigeharu Wakana, Jonathan Warren, Olivia Wendling, David B. West, Leeyean Wong, Atsushi Yoshiki, The International Mouse Phenotyping Consortium, Daniel G. MacArthur, Glauco P. Tocchini-Valentini, Xiang Gao, Paul Flicek, Allan Bradley, William C. Skarnes, Monica J. Justice, Helen E. Parkinson, Mark Moore, Sara Wells, Robert E. Braun, Karen L. Svenson, Martin Hrabe de Angelis, Yann Herault, Tim Mohun, Ann-Marie Mallon, R. Mark Henkelman, Steve D.M. Brown, David J. Adams, K.C. Kent Lloyd, Colin McKerlie, Arthur L. Beaudet, Maja Bucan, Stephen A. Murray

Nature. Author manuscript; available in PMC 2017 Mar 14.

Published in final edited form as: Nature. 2016 Sep 22; 537(7621): 508–514. Published online 2016 Sep 14. doi: 10.1038/nature19356

Correction in:: Nature. 2017 Nov 16; 551(7680): 398.

PMCID:: PMC5295821

Abstract Article PDF–3.0M

Select item 422467012.

Oxidative stress diverts tRNA synthetase to nucleus for protection against DNA damage

Na Wei, Yi Shi, Lan N. Truong, Kathleen M. Fisch, Tao Xu, Elisabeth Gardiner, Guangsen Fu, Yun-Shiuan Olivia Hsu, Shuji Kishi, Andrew I. Su, Xiaohua Wu, Xiang-Lei Yang

Mol Cell. Author manuscript; available in PMC 2015 Oct 23.

Published in final edited form as: Mol Cell. 2014 Oct 23; 56(2): 323–332. Published online 2014 Oct 2. doi: 10.1016/j.molcel.2014.09.006

PMCID:: PMC4224670

Abstract Article PDF–953K

Select item 357241013.

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

Abstract Article PDF–1.1M

Select item 338306514.

Mapping the Nephronophthisis-Joubert-Meckel-Gruber Protein Network Reveals Ciliopathy Disease Genes and Pathways

Liyun Sang, Julie J. Miller, Kevin C. Corbit, Rachel H. Giles, Matthew J. Brauer, Edgar A. Otto, Lisa M. Baye, Xiaohui Wen, Suzie J. Scales, Mandy Kwong, Erik G. Huntzicker, Mindan K. Sfakianos, Wendy Sandoval, J. Fernando Bazan, Priya Kulkarni, Francesc R. Garcia-Gonzalo, Allen D. Seol, John F. O'Toole, Susanne Held, Heiko M. Reutter, William S. Lane, Muhammad Arshad Rafiq, Abdul Noor, Muhammad Ansar, Akella Radha Rama Devi, Val C. Sheffield, Diane C. Slusarski, John B. Vincent, Daniel A. Doherty, Friedhelm Hildebrandt, Jeremy F. Reiter, Peter K. Jackson

Cell. Author manuscript; available in PMC 2012 Jun 26.

Published in final edited form as: Cell. 2011 May 13; 145(4): 513–528. doi: 10.1016/j.cell.2011.04.019

PMCID:: PMC3383065

Abstract Article PDF–2.0M

Select item 317805915.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 302253416.

A High-Resolution Anatomical Atlas of the Transcriptome in the Mouse Embryo

Graciana Diez-Roux, Sandro Banfi, Marc Sultan, Lars Geffers, Santosh Anand, David Rozado, Alon Magen, Elena Canidio, Massimiliano Pagani, Ivana Peluso, Nathalie Lin-Marq, Muriel Koch, Marchesa Bilio, Immacolata Cantiello, Roberta Verde, Cristian De Masi, Salvatore A. Bianchi, Juliette Cicchini, Elodie Perroud, Shprese Mehmeti, Emilie Dagand, Sabine Schrinner, Asja Nürnberger, Katja Schmidt, Katja Metz, Christina Zwingmann, Norbert Brieske, Cindy Springer, Ana Martinez Hernandez, Sarah Herzog, Frauke Grabbe, Cornelia Sieverding, Barbara Fischer, Kathrin Schrader, Maren Brockmeyer, Sarah Dettmer, Christin Helbig, Violaine Alunni, Marie-Annick Battaini, Carole Mura, Charlotte N. Henrichsen, Raquel Garcia-Lopez, Diego Echevarria, Eduardo Puelles, Elena Garcia-Calero, Stefan Kruse, Markus Uhr, Christine Kauck, Guangjie Feng, Nestor Milyaev, Chuang Kee Ong, Lalit Kumar, MeiSze Lam, Colin A. Semple, Attila Gyenesei, Stefan Mundlos, Uwe Radelof, Hans Lehrach, Paolo Sarmientos, Alexandre Reymond, Duncan R. Davidson, Pascal Dollé, Stylianos E. Antonarakis, Marie-Laure Yaspo, Salvador Martinez, Richard A. Baldock, Gregor Eichele, Andrea Ballabio

PLoS Biol. 2011 Jan; 9(1): e1000582. Published online 2011 Jan 18. doi: 10.1371/journal.pbio.1000582

PMCID:: PMC3022534

Abstract Article PDF–3.8M

Select item 255627017.

Large-scale gene trapping in C57BL/6N mouse embryonic stem cells

Gwenn M. Hansen, Diane C. Markesich, Michael B. Burnett, Qichao Zhu, Karen M. Dionne, Lizabeth J. Richter, Richard H. Finnell, Arthur T. Sands, Brian P. Zambrowicz, Alejandro Abuin

Genome Res. 2008 Oct; 18(10): 1670–1679. doi: 10.1101/gr.078352.108

PMCID:: PMC2556270

Abstract Article PDF–493K

Select item 52892818.

The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)

Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504

Correction in:: Genome Res. 2006 Jun; 16(6): 804.

PMCID:: PMC528928

Abstract Article PDF–140K

Select item 31099219.

RIKEN Integrated Sequence Analysis (RISA) System—384-Format Sequencing Pipeline with 384 Multicapillary Sequencer

Kazuhiro Shibata, Masayoshi Itoh, Katsunori Aizawa, Sumiharu Nagaoka, Nobuya Sasaki, Piero Carninci, Hideaki Konno, Junichi Akiyama, Katsuo Nishi, Tokuji Kitsunai, Hideo Tashiro, Mari Itoh, Noriko Sumi, Yoshiyuki Ishii, Shin Nakamura, Makoto Hazama, Tsutomu Nishine, Akira Harada, Rintaro Yamamoto, Hiroyuki Matsumoto, Sumito Sakaguchi, Takashi Ikegami, Katsuya Kashiwagi, Syuji Fujiwake, Kouji Inoue, Yoshiyuki Togawa, Masaki Izawa, Eiji Ohara, Masanori Watahiki, Yuko Yoneda, Tomokazu Ishikawa, Kaori Ozawa, Takumi Tanaka, Shuji Matsuura, Jun Kawai, Yasushi Okazaki, Masami Muramatsu, Yorinao Inoue, Akira Kira, Yoshihide Hayashizaki

Genome Res. 2000 Nov; 10(11): 1757–1771. doi: 10.1101/gr.152600

PMCID:: PMC310992

Abstract Article PDF–3.4M

Select item 31098020.

Normalization and Subtraction of Cap-Trapper-Selected cDNAs to Prepare Full-Length cDNA Libraries for Rapid Discovery of New Genes

Piero Carninci, Yuko Shibata, Norihito Hayatsu, Yuichi Sugahara, Kazuhiro Shibata, Masayoshi Itoh, Hideaki Konno, Yasushi Okazaki, Masami Muramatsu, Yoshihide Hayashizaki

Genome Res. 2000 Oct; 10(10): 1617–1630. doi: 10.1101/gr.145100

PMCID:: PMC310980

Abstract Article PDF–1.4M

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