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Select item 109176601.

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 108372462.

Striated preferentially expressed gene deficiency leads to mitochondrial dysfunction in developing cardiomyocytes

Gu Li, He Huang, Yanshuang Wu, Chang Shu, Narae Hwang, Qifei Li, Rose Zhao, Hilaire C. Lam, William M. Oldham, Souheil EI-Chemaly, Pankaj B. Agrawal, Jie Tian, Xiaoli Liu, Mark A. Perrella

Basic Res Cardiol. 2024; 119(1): 151–168. Published online 2023 Dec 26. doi: 10.1007/s00395-023-01029-7

PMCID:: PMC10837246

Abstract Article PDF–8.1M

Select item 105020193.

Speg interactions that regulate the stability of excitation-contraction coupling protein complexes in triads and dyads

Chang Seok Lee, Sung Yun Jung, Rachel Sue Zhen Yee, Nadia H. Agha, Jin Hong, Ting Chang, Lyle W. Babcock, Jorie D. Fleischman, Benjamin Clayton, Amy D. Hanna, Christopher S. Ward, Denise Lanza, Ayrea E. Hurley, Pumin Zhang, Xander H. T. Wehrens, William R. Lagor, George G. Rodney, Susan L. Hamilton

Commun Biol. 2023; 6: 942. Published online 2023 Sep 14. doi: 10.1038/s42003-023-05330-y

PMCID:: PMC10502019

Abstract Article PDF–9.3M

Select item 94624724.

Dynamin-2 reduction rescues the skeletal myopathy of a SPEG-deficient mouse model

Qifei Li, Jasmine Lin, Jeffrey J. Widrick, Shiyu Luo, Gu Li, Yuanfan Zhang, Jocelyn Laporte, Mark A. Perrella, Xiaoli Liu, Pankaj B. Agrawal

JCI Insight. 2022 Aug 8; 7(15): e157336. Published online 2022 Aug 8. doi: 10.1172/jci.insight.157336

PMCID:: PMC9462472

Abstract Article PDF–3.5M

Select item 84852225.

SPEG binds with desmin and its deficiency causes defects in triad and focal adhesion proteins

Shiyu Luo, Qifei Li, Jasmine Lin, Quinn Murphy, Isabelle Marty, Yuanfan Zhang, Shideh Kazerounian, Pankaj B Agrawal

Hum Mol Genet. 2020 Dec 15; 29(24): 3882–3891. Published online 2020 Dec 23. doi: 10.1093/hmg/ddaa276

PMCID:: PMC8485222

Abstract Article PDF–1.1M

Select item 79387706.

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

Abstract Article PDF–2.0M

Select item 77345997.

Striated Preferentially Expressed Protein Kinase (SPEG)-Deficient Skeletal Muscles Display Fewer Satellite Cells with Reduced Proliferation and Delayed Differentiation

Qifei Li, Jasmine Lin, Samantha M. Rosen, Tian Zhang, Shideh Kazerounian, Shiyu Luo, Pankaj B. Agrawal

Am J Pathol. 2020 Dec; 190(12): 2453–2463. doi: 10.1016/j.ajpath.2020.08.012

PMCID:: PMC7734599

Abstract Article PDF–3.2M

Select item 75088008.

Loss of SPEG Inhibitory Phosphorylation of RyR2 Promotes Atrial Fibrillation

Hannah M. Campbell, Ann P. Quick, Issam Abu-Taha, David Y. Chiang, Carlos F. Kramm, Tarah A. Word, Sören Brandenburg, Mohit Hulsurkar, Katherina M. Alsina, Hui-Bin Liu, Brian Martin, Dennis Uhlenkamp, Oliver M. Moore, Satadru K. Lahiri, Eleonora Corradini, Markus Kamler, Albert J.R. Heck, Stephan E. Lehnart, Dobromir Dobrev, Xander H.T. Wehrens

Circulation. Author manuscript; available in PMC 2021 Sep 22.

Published in final edited form as: Circulation. 2020 Sep 22; 142(12): 1159–1172. Published online 2020 Jul 20. doi: 10.1161/CIRCULATIONAHA.120.045791

PMCID:: PMC7508800

Abstract Article PDF–2.4M

Select item 71986269.

A PKB-SPEG signaling nexus links insulin resistance with diabetic cardiomyopathy by regulating calcium homeostasis

Chao Quan, Qian Du, Min Li, Ruizhen Wang, Qian Ouyang, Shu Su, Sangsang Zhu, Qiaoli Chen, Yang Sheng, Liang Chen, Hong Wang, David G. Campbell, Carol MacKintosh, Zhongzhou Yang, Kunfu Ouyang, Hong Yu Wang, Shuai Chen

Nat Commun. 2020; 11: 2186. Published online 2020 May 4. doi: 10.1038/s41467-020-16116-9

PMCID:: PMC7198626

Abstract Article PDF–3.7M

Select item 629804010.

Irisin Mediates Effects on Bone and Fat via αV Integrin Receptors

Hyeonwoo Kim, Christiane D. Wrann, Mark Jedrychowski, Sara Vidoni, Yukiko Kitase, Kenichi Nagano, Chenhe Zhou, Joshua Chou, Virginia-Jeni A. Parkman, Scott J. Novick, Timothy S. Strutzenberg, Bruce D. Pascal, Phuong T. Le, Daniel J. Brooks, Alexander M. Roche, Kaitlyn K. Gerber, Laura Mattheis, Wenjing Chen, Hua Tu, Mary L. Bouxsein, Patrick R. Griffin, Roland Baron, Clifford J. Rosen, Lynda F. Bonewald, Bruce M. Spiegelman

Cell. Author manuscript; available in PMC 2019 Dec 13.

Published in final edited form as: Cell. 2018 Dec 13; 175(7): 1756–1768.e17. doi: 10.1016/j.cell.2018.10.025

Correction in:: Cell. 2019 Jul 11; 178(2): 507–508.

PMCID:: PMC6298040

Abstract Article PDF–1.2M

Select item 604843811.

Pressure Overload in Mice With Haploinsufficiency of Striated Preferentially Expressed Gene Leads to Decompensated Heart Failure

Chang Shu, He Huang, Ying Xu, Marcello Rota, Andrea Sorrentino, Yuan Peng, Robert F. Padera, Jr., Virginia Huntoon, Pankaj B. Agrawal, Xiaoli Liu, Mark A. Perrella

Front Physiol. 2018; 9: 863. Published online 2018 Jul 10. doi: 10.3389/fphys.2018.00863

PMCID:: PMC6048438

Abstract Article PDF–4.9M

Select item 590562612.

SPEG-deficient skeletal muscles exhibit abnormal triad and defective calcium handling

Virginia Huntoon, Jeffrey J Widrick, Colline Sanchez, Samantha M Rosen, Candice Kutchukian, Siqi Cao, Christopher R Pierson, Xiaoli Liu, Mark A Perrella, Alan H Beggs, Vincent Jacquemond, Pankaj B Agrawal

Hum Mol Genet. 2018 May 1; 27(9): 1608–1617. Published online 2018 Feb 20. doi: 10.1093/hmg/ddy068

PMCID:: PMC5905626

Abstract Article PDF–876K

Select item 538122613.

Fancd2 in vivo interaction network reveals a non-canonical role in mitochondrial function

Tingting Zhang, Wei Du, Andrew F. Wilson, Satoshi H. Namekawa, Paul R. Andreassen, Amom Ruhikanta Meetei, Qishen Pang

Sci Rep. 2017; 7: 45626. Published online 2017 Apr 5. doi: 10.1038/srep45626

PMCID:: PMC5381226

Abstract Article PDF–1.4M

Select item 529582114.

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 521885415.

‘Striated Muscle Preferentially Expressed Protein Kinase’ (SPEG) Is Essential for Cardiac Function by Regulating Junctional Membrane Complex Activity

Ann P. Quick, Qiongling Wang, Leonne E. Philippen, Giselle Barreto-Torres, David Y. Chiang, David Beavers, Guoliang Wang, Maha Khalid, Julia O. Reynolds, Hannah M. Campbell, Jordan Showell, Mark D. McCauley, Arjen Scholten, Xander H. T. Wehrens

Circ Res. Author manuscript; available in PMC 2018 Jan 6.

Published in final edited form as: Circ Res. 2017 Jan 6; 120(1): 110–119. Published online 2016 Oct 11. doi: 10.1161/CIRCRESAHA.116.309977

PMCID:: PMC5218854

Abstract Article PDF–2.2M

Select item 467349316.

Rescue of neonatal cardiac dysfunction in mice by administration of cardiac progenitor cells in utero

Xiaoli Liu, Sean R. R. Hall, Zhihong Wang, He Huang, Sailaja Ghanta, Moises Di Sante, Annarosa Leri, Piero Anversa, Mark A. Perrella

Nat Commun. 2015; 6: 8825. Published online 2015 Nov 23. doi: 10.1038/ncomms9825

PMCID:: PMC4673493

Abstract Article PDF–3.7M

Select item 438043817.

Expression of the Immunoglobulin Superfamily Cell Adhesion Molecules in the Developing Spinal Cord and Dorsal Root Ganglion

Zirong Gu, Fumiyasu Imai, In Jung Kim, Hiroko Fujita, Kei ichi Katayama, Kensaku Mori, Yoshihiro Yoshihara, Yutaka Yoshida

PLoS One. 2015; 10(3): e0121550. Published online 2015 Mar 31. doi: 10.1371/journal.pone.0121550

PMCID:: PMC4380438

Abstract Article PDF–36M

Select item 357241018.

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 317805919.

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 302253420.

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