PMC Links for GEO Profiles (Select 114351481) - PMC

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 93596622.

Voltage-dependent Ca²⁺ release is impaired in hypokalemic periodic paralysis caused by Ca_V1.1-R528H but not by Na_V1.4-R669H

Marino DiFranco, Stephen C. Cannon

Am J Physiol Cell Physiol. 2022 Aug 1; 323(2): C478–C485. Published online 2022 Jun 27. doi: 10.1152/ajpcell.00209.2022

PMCID:: PMC9359662

Abstract Article

Select item 59325603.

A genetic modifier suggests that endurance exercise exacerbates Huntington's disease

Silvia Corrochano, Gonzalo Blanco, Debbie Williams, Jessica Wettstein, Michelle Simon, Saumya Kumar, Lee Moir, Thomas Agnew, Michelle Stewart, Allison Landman, Vassilios N Kotiadis, Michael R Duchen, Henning Wackerhage, David C Rubinsztein, Steve D M Brown, Abraham Acevedo-Arozena

Hum Mol Genet. 2018 May 15; 27(10): 1723–1731. Published online 2018 Mar 2. doi: 10.1093/hmg/ddy077

PMCID:: PMC5932560

Abstract Article PDF–596K

Select item 52958214.

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 48927535.

Mice with an Na_V1.4 sodium channel null allele have latent myasthenia, without susceptibility to periodic paralysis

Fenfen Wu, Wentao Mi, Yu Fu, Arie Struyk, Stephen C. Cannon

Brain. 2016 Jun; 139(6): 1688–1699. Published online 2016 Apr 5. doi: 10.1093/brain/aww070

PMCID:: PMC4892753

Abstract Article PDF–987K

Select item 47604416.

Physiological basis for muscle stiffness and weakness in a knock‐in M1592V mouse model of hyperkalemic periodic paralysis

Shiemaa Khogali, Brooke Lucas, Tarek Ammar, Danica Dejong, Michael Barbalinardo, Lawrence J. Hayward, Jean‐Marc Renaud

Physiol Rep. 2015 Dec; 3(12): e12656. Published online 2015 Dec 23. doi: 10.14814/phy2.12656

PMCID:: PMC4760441

Abstract Article PDF–976K

Select item 42402997.

Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis

Silvia Corrochano, Roope Männikkö, Peter I. Joyce, Philip McGoldrick, Jessica Wettstein, Glenda Lassi, Dipa L. Raja Rayan, Gonzalo Blanco, Colin Quinn, Andrianos Liavas, Arimantas Lionikas, Neta Amior, James Dick, Estelle G. Healy, Michelle Stewart, Sarah Carter, Marie Hutchinson, Liz Bentley, Pietro Fratta, Andrea Cortese, Roger Cox, Steve D. M. Brown, Valter Tucci, Henning Wackerhage, Anthony A. Amato, Linda Greensmith, Martin Koltzenburg, Michael G. Hanna, Abraham Acevedo-Arozena

Brain. 2014 Dec; 137(12): 3171–3185. Published online 2014 Oct 20. doi: 10.1093/brain/awu292

PMCID:: PMC4240299

Abstract Article PDF–1.3M

Select item 39649558.

The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data

Gautier Koscielny, Gagarine Yaikhom, Vivek Iyer, Terrence F. Meehan, Hugh Morgan, Julian Atienza-Herrero, Andrew Blake, Chao-Kung Chen, Richard Easty, Armida Di Fenza, Tanja Fiegel, Mark Grifiths, Alan Horne, Natasha A. Karp, Natalja Kurbatova, Jeremy C. Mason, Peter Matthews, Darren J. Oakley, Asfand Qazi, Jack Regnart, Ahmad Retha, Luis A. Santos, Duncan J. Sneddon, Jonathan Warren, Henrik Westerberg, Robert J. Wilson, David G. Melvin, Damian Smedley, Steve D. M. Brown, Paul Flicek, William C. Skarnes, Ann-Marie Mallon, Helen Parkinson

Nucleic Acids Res. 2014 Jan 1; 42(Database issue): D802–D809. Published online 2013 Nov 3. doi: 10.1093/nar/gkt977

PMCID:: PMC3964955

Abstract Article PDF–5.7M

Select item 35724109.

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 319547010.

A sodium channel knockin mutant (Na_V1.4-R669H) mouse model of hypokalemic periodic paralysis

Fenfen Wu, Wentao Mi, Dennis K. Burns, Yu Fu, Hillery F. Gray, Arie F. Struyk, Stephen C. Cannon

J Clin Invest. 2011 Oct 3; 121(10): 4082–4094. Published online 2011 Sep 1. doi: 10.1172/JCI57398

PMCID:: PMC3195470

Abstract Article PDF–2.7M

Select item 317805911.

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 313532112.

Na⁺,K⁺-pump stimulation improves contractility in isolated muscles of mice with hyperkalemic periodic paralysis

Torben Clausen, Ole Bækgaard Nielsen, Johannes D. Clausen, Thomas Holm Pedersen, Lawrence J. Hayward

J Gen Physiol. 2011 Jul; 138(1): 117–130. doi: 10.1085/jgp.201010586

PMCID:: PMC3135321

Abstract Article PDF–1.1M

Select item 302253413.

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 248333314.

Na_v1.4 Deregulation in Dystrophic Skeletal Muscle Leads to Na⁺ Overload and Enhanced Cell Death

Carole Hirn, George Shapovalov, Olivier Petermann, Emmanuelle Roulet, Urs T. Ruegg

J Gen Physiol. 2008 Aug; 132(2): 199–208. doi: 10.1085/jgp.200810024

PMCID:: PMC2483333

Abstract Article PDF–3.2M

Select item 226090715.

Targeted mutation of mouse skeletal muscle sodium channel produces myotonia and potassium-sensitive weakness

Lawrence J. Hayward, Joanna S. Kim, Ming-Yang Lee, Hongru Zhou, Ji W. Kim, Kumudini Misra, Mohammad Salajegheh, Fen-fen Wu, Chie Matsuda, Valerie Reid, Didier Cros, Eric P. Hoffman, Jean-Marc Renaud, Stephen C. Cannon, Robert H. Brown, Jr.

J Clin Invest. 2008 Apr 1; 118(4): 1437–1449. Published online 2008 Mar 3. doi: 10.1172/JCI32638

PMCID:: PMC2260907

Abstract Article PDF–1.6M

Select item 146445716.

Expression pattern of neuronal and skeletal muscle voltage-gated Na⁺ channels in the developing mouse heart

Volker Haufe, Juan A Camacho, Robert Dumaine, Bernd Günther, Christian Bollensdorff, Gisela Segond von Banchet, Klaus Benndorf, Thomas Zimmer

J Physiol. 2005 May 1; 564(Pt 3): 683–696. Published online 2005 Mar 3. doi: 10.1113/jphysiol.2004.079681

PMCID:: PMC1464457

Abstract Article PDF–367K

Select item 141356817.

BGEM: An In Situ Hybridization Database of Gene Expression in the Embryonic and Adult Mouse Nervous System

Susan Magdaleno, Patricia Jensen, Craig L Brumwell, Anna Seal, Karen Lehman, Andrew Asbury, Tony Cheung, Tommie Cornelius, Diana M Batten, Christopher Eden, Shannon M Norland, Dennis S Rice, Nilesh Dosooye, Sundeep Shakya, Perdeep Mehta, Tom Curran

PLoS Biol. 2006 Apr; 4(4): e86. Published online 2006 Mar 28. doi: 10.1371/journal.pbio.0040086

PMCID:: PMC1413568

Article PDF–99K

Select item 13924118.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

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