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Items: 1 to 20 of 34

1.
Choroid plexus mis-splicing and altered cerebrospinal fluid composition in myotonic dystrophy type 1
Curtis A Nutter, Benjamin M Kidd, Helmut A Carter, Johanna I Hamel, Philip M Mackie, Nayha Kumbkarni, Mackenzie L Davenport, Dana M Tuyn, Adithya Gopinath, Peter D Creigh, Łukasz J Sznajder, Eric T Wang, Laura P W Ranum, Habibeh Khoshbouei, John W Day, Jacinda B Sampson, Stefan Prokop, Maurice S Swanson
Brain. 2023 Oct; 146(10): 4217–4232. Published online 2023 May 5. doi: 10.1093/brain/awad148
PMCID:
PMC10545633
AbstractArticlePDF–1.5M
2.
DM1 Transgenic Mice Exhibit Abnormal Neurotransmitter Homeostasis and Synaptic Plasticity in Association with RNA Foci and Mis-Splicing in the Hippocampus
Brigitte Potier, Louison Lallemant, Sandrine Parrot, Aline Huguet-Lachon, Geneviève Gourdon, Patrick Dutar, Mário Gomes-Pereira
Int J Mol Sci. 2022 Jan; 23(2): 592. Published online 2022 Jan 6. doi: 10.3390/ijms23020592
PMCID:
PMC8775431
AbstractArticlePDF–2.4M
3.
Deletion of Fibroblast growth factor 9 globally and in skeletal muscle results in enlarged tuberosities at sites of deltoid tendon attachments
Connor C. Leek, Jaclyn M. Soulas, Iman Bhattacharya, Elahe Ganji, Ryan C. Locke, Megan C. Smith, Jaysheel D. Bhavsar, Shawn W. Polson, David M. Ornitz, Megan L. Killian
Dev Dyn. Author manuscript; available in PMC 2021 Dec 3.
Published in final edited form as: Dev Dyn. 2021 Dec; 250(12): 1778–1795. Published online 2021 Jun 16. doi: 10.1002/dvdy.383
PMCID:
PMC8639753
AbstractArticlePDF–3.1M
4.
Srsf3 mediates alternative RNA splicing downstream of PDGFRα signaling in the facial mesenchyme
Brenna J. C. Dennison, Eric D. Larson, Rui Fu, Julia Mo, Katherine A. Fantauzzo
Development. 2021 Jul 15; 148(14): dev199448. Published online 2021 Jul 13. doi: 10.1242/dev.199448
PMCID:
PMC8313863
AbstractArticle
5.
Modeling muscle regeneration in RNA toxicity mice
Ramesh S Yadava, Mahua Mandal, Jack M Giese, Frank Rigo, C Frank Bennett, Mani S Mahadevan
Hum Mol Genet. 2021 Jun 15; 30(12): 1111–1130. Published online 2021 Apr 16. doi: 10.1093/hmg/ddab108
PMCID:
PMC8188403
AbstractArticlePDF–3.1M
6.
Reversible cardiac disease features in an inducible CUG repeat RNA–expressing mouse model of myotonic dystrophy
Ashish N. Rao, Hannah M. Campbell, Xiangnan Guan, Tarah A. Word, Xander H.T. Wehrens, Zheng Xia, Thomas A. Cooper
JCI Insight. 2021 Mar 8; 6(5): e143465. Published online 2021 Mar 8. doi: 10.1172/jci.insight.143465
PMCID:
PMC8021116
AbstractArticlePDF–2.0M
7.
Systemic therapy in an RNA toxicity mouse model with an antisense oligonucleotide therapy targeting a non-CUG sequence within the DMPK 3′UTR RNA
Ramesh S Yadava, Qing Yu, Mahua Mandal, Frank Rigo, C Frank Bennett, Mani S Mahadevan
Hum Mol Genet. 2020 Jun 3; 29(9): 1440–1453. Published online 2020 Apr 2. doi: 10.1093/hmg/ddaa060
PMCID:
PMC7268549
AbstractArticlePDF–1.2M
8.
Systemic Evaluation of Chimeric LNA/2′-O-Methyl Steric Blockers for Myotonic Dystrophy Type 1 Therapy
Melina Christou, Jesper Wengel, Kleitos Sokratous, Kyriacos Kyriacou, Georgios Nikolaou, Leonidas A. Phylactou, Nikolaos P. Mastroyiannopoulos
Nucleic Acid Ther. April 2020; 30(2): 80–93. Published online 2020 Mar 26. doi: 10.1089/nat.2019.0811
PMCID:
PMC7133450
AbstractArticlePDF–1.4M
9.
Cell-type-specific dysregulation of RNA alternative splicing in short tandem repeat mouse knockin models of myotonic dystrophy
Curtis A. Nutter, Jodi L. Bubenik, Ruan Oliveira, Franjo Ivankovic, Łukasz J. Sznajder, Benjamin M. Kidd, Belinda S. Pinto, Brittney A. Otero, Helmut A. Carter, Eric A. Vitriol, Eric T. Wang, Maurice S. Swanson
Genes Dev. 2019 Dec 1; 33(23-24): 1635–1640. doi: 10.1101/gad.328963.119
PMCID:
PMC6942047
AbstractArticlePDF–8.9M
10.
DMPK is a New Candidate Mediator of Tumor Suppressor p53-Dependent Cell Death
Katsuhiko Itoh, Takahiro Ebata, Hiroaki Hirata, Takeru Torii, Wataru Sugimoto, Keigo Onodera, Wataru Nakajima, Ikuno Uehara, Daisuke Okuzaki, Shota Yamauchi, Yemima Budirahardja, Takahito Nishikata, Nobuyuki Tanaka, Keiko Kawauchi
Molecules. 2019 Sep; 24(17): 3175. Published online 2019 Sep 1. doi: 10.3390/molecules24173175
PMCID:
PMC6749264
AbstractArticlePDF–1.9M
11.
Mechanisms of skeletal muscle wasting in a mouse model for myotonic dystrophy type 1
Ginny R Morriss, Kimal Rajapakshe, Shixia Huang, Cristian Coarfa, Thomas A Cooper
Hum Mol Genet. 2018 Aug 15; 27(16): 2789–2804. Published online 2018 May 16. doi: 10.1093/hmg/ddy192
PMCID:
PMC6077786
AbstractArticlePDF–2.4M
12.
Dmpk gene deletion or antisense knockdown does not compromise cardiac or skeletal muscle function in mice
Samuel T. Carrell, Ellie M. Carrell, David Auerbach, Sanjay K. Pandey, C. Frank Bennett, Robert T. Dirksen, Charles A. Thornton
Hum Mol Genet. 2016 Oct 1; 25(19): 4328–4338. Published online 2016 Aug 13. doi: 10.1093/hmg/ddw266
PMCID:
PMC5291200
AbstractArticlePDF–911K
13.
Toxic gain of function from mutant FUS protein is crucial to trigger cell autonomous motor neuron loss
Jelena Scekic‐Zahirovic, Oliver Sendscheid, Hajer El Oussini, Mélanie Jambeau, Ying Sun, Sina Mersmann, Marina Wagner, Stéphane Dieterlé, Jérome Sinniger, Sylvie Dirrig‐Grosch, Kevin Drenner, Marie‐Christine Birling, Jinsong Qiu, Yu Zhou, Hairi Li, Xiang‐Dong Fu, Caroline Rouaux, Tatyana Shelkovnikova, Anke Witting, Albert C Ludolph, Friedemann Kiefer, Erik Storkebaum, Clotilde Lagier‐Tourenne, Luc Dupuis
EMBO J. 2016 May 17; 35(10): 1077–1097. Published online 2016 Mar 8. doi: 10.15252/embj.201592559
PMCID:
PMC4868956
AbstractArticlePDF–7.5M
14.
Sense and Antisense DMPK RNA Foci Accumulate in DM1 Tissues during Development
Lise Michel, Aline Huguet-Lachon, Geneviève Gourdon
PLoS One. 2015; 10(9): e0137620. Published online 2015 Sep 4. doi: 10.1371/journal.pone.0137620
PMCID:
PMC4560382
AbstractArticlePDF–18M
15.
Age of Onset of RNA Toxicity Influences Phenotypic Severity: Evidence from an Inducible Mouse Model of Myotonic Dystrophy (DM1)
Jordan T. Gladman, Mahua Mandal, Varadamurthy Srinivasan, Mani S. Mahadevan
PLoS One. 2013; 8(9): e72907. Published online 2013 Sep 5. doi: 10.1371/journal.pone.0072907
PMCID:
PMC3764231
AbstractArticlePDF–1.7M
16.
Progressive impairment of muscle regeneration in muscleblind-like 3 isoform knockout mice
Michael G. Poulos, Ranjan Batra, Moyi Li, Yuan Yuan, Chaolin Zhang, Robert B. Darnell, Maurice S. Swanson
Hum Mol Genet. 2013 Sep 1; 22(17): 3547–3558. Published online 2013 May 8. doi: 10.1093/hmg/ddt209
PMCID:
PMC3736872
AbstractArticlePDF–1.2M
17.
QTL Analysis of Dietary Obesity in C57BL/6byj X 129P3/J F2 Mice: Diet- and Sex-Dependent Effects
Cailu Lin, Maria L. Theodorides, Amanda H. McDaniel, Michael G. Tordoff, Qinmin Zhang, Xia Li, Natalia Bosak, Alexander A. Bachmanov, Danielle R. Reed
PLoS One. 2013; 8(7): e68776. Published online 2013 Jul 29. doi: 10.1371/journal.pone.0068776
PMCID:
PMC3726688
AbstractArticlePDF–926K
18.
Altered β-adrenergic response in mice lacking myotonic dystrophy protein kinase (DMPK)
Esther Llagostera, María Jesús Álvarez López, Cecilia Scimia, Daniele Catalucci, Marcelina Párrizas, Pilar Ruiz-Lozano, Perla Kaliman
Muscle Nerve. Author manuscript; available in PMC 2013 Jan 1.
Published in final edited form as: Muscle Nerve. 2012 Jan; 45(1): 128–130. doi: 10.1002/mus.22256
PMCID:
PMC3422658
AbstractArticlePDF–348K
19.
Myotonic Dystrophy Protein Kinase Is Critical for Nuclear Envelope Integrity
Erin B. Harmon, Michelle L. Harmon, Tricia D. Larsen, Jie Yang, Joseph W. Glasford, M. Benjamin Perryman
J Biol Chem. 2011 Nov 18; 286(46): 40296–40306. Published online 2011 Sep 27. doi: 10.1074/jbc.M111.241455
PMCID:
PMC3220565
AbstractArticlePDF–4.0M
20.
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
AbstractArticlePDF–1.0M

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