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Select item 105456331.

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

Abstract Article PDF–1.5M

Select item 87754312.

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

Abstract Article PDF–2.4M

Select item 86397533.

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

Abstract Article PDF–3.1M

Select item 83138634.

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

Abstract Article

Select item 81884035.

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

Abstract Article PDF–3.1M

Select item 80211166.

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

Abstract Article PDF–2.0M

Select item 72685497.

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

Abstract Article PDF–1.2M

Select item 71334508.

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

Abstract Article PDF–1.4M

Select item 69420479.

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

Abstract Article PDF–8.9M

Select item 674926410.

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

Abstract Article PDF–1.9M

Select item 607778611.

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

Abstract Article PDF–2.4M

Select item 529120012.

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

Abstract Article PDF–911K

Select item 486895613.

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

Abstract Article PDF–7.5M

Select item 456038214.

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

Abstract Article PDF–18M

Select item 376423115.

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

Abstract Article PDF–1.7M

Select item 373687216.

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

Abstract Article PDF–1.2M

Select item 372668817.

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

Abstract Article PDF–926K

Select item 342265818.

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

Abstract Article PDF–348K

Select item 322056519.

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

Abstract Article PDF–4.0M

Select item 317805920.

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

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