PMC Articles for MedGen (Select 868251) - PMC

Select item 109236381.

Variants in DTNA cause a mild, dominantly inherited muscular dystrophy

Andres Nascimento, Christine C. Bruels, Sandra Donkervoort, A. Reghan Foley, Anna Codina, Jose C Milisenda, Elicia A. Estrella, Chengcheng Li, Jordi Pijuan, Isabelle Draper, Ying Hu, Seth A. Stafki, Lynn S. Pais, Vijay S. Ganesh, Anne O’Donnell-Luria, Safoora B. Syeda, Laura Carrera-García, Jessica Expósito-Escudero, Delia Yubero, Loreto Martorell, Iago Pinal-Fernandez, Hart G.W. Lidov, Andrew L. Mammen, Josep M Grau-Junyent, Carlos Ortez, Francesc Palau, Partha S Ghosh, Basil T. Darras, Cristina Jou, Louis M. Kunkel, Janet Hoenicka, Carsten G. Bönnemann, Peter B. Kang, Daniel Natera-de Benito

Acta Neuropathol. Author manuscript; available in PMC 2024 Apr 1.

Published in final edited form as: Acta Neuropathol. 2023 Apr; 145(4): 479–496. Published online 2023 Feb 17. doi: 10.1007/s00401-023-02551-7

PMCID:: PMC10923638

Article PDF–2.4M

Select item 70289232.

Nutritional intervention with cyanidin hinders the progression of muscular dystrophy

Marielle Saclier, Chiara Bonfanti, Stefania Antonini, Giuseppe Angelini, Giada Mura, Federica Zanaglio, Valentina Taglietti, Vanina Romanello, Marco Sandri, Chiara Tonelli, Katia Petroni, Marco Cassano, Graziella Messina

Cell Death Dis. 2020 Feb; 11(2): 127. Published online 2020 Feb 18. doi: 10.1038/s41419-020-2332-4

PMCID:: PMC7028923

Article PDF–2.5M

Select item 66871423.

Absolute expressions of hypoxia-inducible factor-1 alpha (HIF1A) transcript and the associated genes in chicken skeletal muscle with white striping and wooden breast myopathies

Yuwares Malila, Krittaporn Thanatsang, Sopacha Arayamethakorn, Tanaporn Uengwetwanit, Yanee Srimarut, Massimiliano Petracci, Gale M. Strasburg, Wanilada Rungrassamee, Wonnop Visessanguan

PLoS One. 2019; 14(8): e0220904. Published online 2019 Aug 8. doi: 10.1371/journal.pone.0220904

PMCID:: PMC6687142

Article PDF–1.4M

Select item 58015534.

Effect of Ibuprofen on Skeletal Muscle of Dysferlin-Null Mice

Alyssa F. Collier, Jessica Gumerson, Kimmo Lehtimäki, Jukka Puoliväli, Jace W. Jones, Maureen A. Kane, Sankeerth Manne, Andrea O’Neill, Hillarie P. Windish, Toni Ahtoniemi, Bradley A. Williams, Douglas E. Albrecht, Robert J. Bloch

J Pharmacol Exp Ther. 2018 Mar; 364(3): 409–419. Published online 2018 Mar. doi: 10.1124/jpet.117.244244

PMCID:: PMC5801553

Article PDF–1.2M

Select item 54616845.

Nanospan, an alternatively spliced isoform of sarcospan, localizes to the sarcoplasmic reticulum in skeletal muscle and is absent in limb girdle muscular dystrophy 2F

Angela K. Peter, Gaynor Miller, Joana Capote, Marino DiFranco, Alhondra Solares-Pérez, Emily L. Wang, Jim Heighway, Ramón M. Coral-Vázquez, Julio Vergara, Rachelle H. Crosbie-Watson

Skelet Muscle. 2017; 7: 11. Published online 2017 Jun 6. doi: 10.1186/s13395-017-0127-9

PMCID:: PMC5461684

Article PDF–6.0M

Select item 52983976.

GWAS Identifies New Loci for Painful Temporomandibular Disorder: Hispanic Community Health Study/Study of Latinos

A.E. Sanders, D. Jain, T. Sofer, K.F. Kerr, C.C. Laurie, J.R. Shaffer, M.L. Marazita, L.M. Kaste, G.D. Slade, R.B. Fillingim, R. Ohrbach, W. Maixner, T. Kocher, O. Bernhardt, A. Teumer, C. Schwahn, K. Sipilä, R. Lähdesmäki, M. Männikkö, P. Pesonen, M. Järvelin, C.M. Rizzatti-Barbosa, C.B. Meloto, M. Ribeiro-Dasilva, L. Diatchenko, P. Serrano, S.B. Smith

J Dent Res. 2017 Mar; 96(3): 277–284. Published online 2017 Jan 12. doi: 10.1177/0022034516686562

PMCID:: PMC5298397

Article PDF–596K

Select item 40190557.

Na⁺ Dysregulation Coupled with Ca²⁺ Entry through NCX1 Promotes Muscular Dystrophy in Mice

Adam R. Burr, Douglas P. Millay, Sanjeewa A. Goonasekera, Ki Ho Park, Michelle A. Sargent, James Collins, Francisco Altamirano, Kenneth D. Philipson, Paul D. Allen, Jianjie Ma, José Rafael López, Jeffery D. Molkentin

Mol Cell Biol. 2014 Jun; 34(11): 1991–2002. doi: 10.1128/MCB.00339-14

PMCID:: PMC4019055

Article PDF–3.3M

Select item 31347078.

A dual acting compound releasing nitric oxide (NO) and ibuprofen, NCX 320, shows significant therapeutic effects in a mouse model of muscular dystrophy

Clara Sciorati, Daniela Miglietta, Roberta Buono, Viviana Pisa, Dario Cattaneo, Emanuele Azzoni, Silvia Brunelli, Emilio Clementi

Pharmacol Res. 2011 Sep; 64(3): 210–217. doi: 10.1016/j.phrs.2011.05.003

PMCID:: PMC3134707

Article

Select item 27320389.

Costameric proteins in human skeletal muscle during muscular inactivity

Giuseppe Anastasi, Giuseppina Cutroneo, Giuseppe Santoro, Alba Arco, Giuseppina Rizzo, Placido Bramanti, Carmen Rinaldi, Antonina Sidoti, Aldo Amato, Angelo Favaloro

J Anat. 2008 Sep; 213(3): 284–295. Published online 2008 Jun 5. doi: 10.1111/j.1469-7580.2008.00921.x

PMCID:: PMC2732038

Article PDF–1.1M

Select item 219921310.

Enhanced Expression of the α7β1 Integrin Reduces Muscular Dystrophy and Restores Viability in Dystrophic Mice

Dean J. Burkin, Gregory Q. Wallace, Kimberly J. Nicol, David J. Kaufman, Stephen J. Kaufman

J Cell Biol. 2001 Mar 19; 152(6): 1207–1218. doi: 10.1083/jcb.152.6.1207

PMCID:: PMC2199213

Article PDF–890K

Select item 50837411.

Integrins (alpha7beta1) in muscle function and survival. Disrupted expression in merosin-deficient congenital muscular dystrophy.

P H Vachon, H Xu, L Liu, F Loechel, Y Hayashi, K Arahata, J C Reed, U M Wewer, E Engvall

J Clin Invest. 1997 Oct 1; 100(7): 1870–1881. doi: 10.1172/JCI119716

PMCID:: PMC508374

Summary PDF–684K

Select item 29613612.

Abnormal expression of laminin suggests disturbance of sarcolemma-extracellular matrix interaction in Japanese patients with autosomal recessive muscular dystrophy deficient in adhalin.

I Higuchi, H Yamada, H Fukunaga, H Iwaki, R Okubo, M Nakagawa, M Osame, S L Roberds, T Shimizu, K P Campbell, et al.

J Clin Invest. 1994 Aug; 94(2): 601–606. doi: 10.1172/JCI117375

PMCID:: PMC296136

Summary Page Browse PDF–2.2M

Select item 690663113.

A gene-edited mouse model of limb-girdle muscular dystrophy 2C for testing exon skipping

Alexis R. Demonbreun, Eugene J. Wyatt, Katherine S. Fallon, Claire C. Oosterbaan, Patrick G. Page, Michele Hadhazy, Mattia Quattrocelli, David Y. Barefield, Elizabeth M. McNally

Dis Model Mech. 2020 Feb 1; 13(2): dmm040832. Published online 2019 Nov 4. doi: 10.1242/dmm.040832

PMCID:: PMC6906631

Article

Select item 264441614.

Genetic Disruption of Calcineurin Improves Skeletal Muscle Pathology and Cardiac Disease in a Mouse Model of Limb-Girdle Muscular Dystrophy

Stephanie A. Parsons, Douglas P. Millay, Michelle A. Sargent, Francisco J. Naya, Elizabeth M. McNally, H. Lee Sweeney, Jeffery D. Molkentin

J Biol Chem. Author manuscript; available in PMC 2009 Feb 18.

Published in final edited form as: J Biol Chem. 2007 Mar 30; 282(13): 10068–10078. Published online 2007 Feb 7. doi: 10.1074/jbc.M609368200

PMCID:: PMC2644416

Article PDF–4.8M

Select item 185341915.

Molecular Pathogenesis of Muscle Degeneration in the δ-Sarcoglycan-Deficient Hamster

Volker Straub, Franck Duclos, David P. Venzke, Jane C. Lee, Susan Cutshall, Cynthia J. Leveille, Kevin P. Campbell

Am J Pathol. 1998 Nov; 153(5): 1623–1630. doi: 10.1016/s0002-9440(10)65751-3

PMCID:: PMC1853419

Article PDF–1.0M

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