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  1. Nemaline myopathy (NM) is a rare genetic muscle disorder, but one of the most common among the congenital myopathies. NM is caused by mutations in at least nine genes: Nebulin (NEB), α-actin (ACTA1), α-tropomyosi...

    Authors: Minttu Marttila, Mubashir Hanif, Elina Lemola, Kristen J Nowak, Jenni Laitila, Mikaela Grönholm, Carina Wallgren-Pettersson and Katarina Pelin

    Citation: Skeletal Muscle 2014 4:15

    Content type: Research

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  2. MDC1A is a congenital neuromuscular disorder with developmentally complex and progressive pathologies that results from a deficiency in the protein laminin α2. MDC1A is associated with a multitude of pathologies,...

    Authors: Thomas Mehuron, Ajay Kumar, Lina Duarte, Jenny Yamauchi, Anthony Accorsi and Mahasweta Girgenrath

    Citation: Skeletal Muscle 2014 4:14

    Content type: Research

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    The Erratum to this article has been published in Skeletal Muscle 2014 4:17

  3. The dystrophin glycoprotein complex (DGC) is located at the sarcolemma of muscle fibers, providing structural integrity. Mutations in and loss of DGC proteins cause a spectrum of muscular dystrophies. When onl...

    Authors: Catherine Moorwood, Anastassios Philippou, Janelle Spinazzola, Benjamin Keyser, Edward J Macarak and Elisabeth R Barton

    Citation: Skeletal Muscle 2014 4:13

    Content type: Research

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  4. Muscle hypertrophy in the mdx mouse model of Duchenne muscular dystrophy (DMD) can partially compensate for the loss of dystrophin by maintaining peak force production. Histopathology examination of the hypertrop...

    Authors: Rachel M Faber, John K Hall, Jeffrey S Chamberlain and Glen B Banks

    Citation: Skeletal Muscle 2014 4:10

    Content type: Research

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  5. Duchenne muscular dystrophy (DMD) is characterized by the absence of the cytoskeletal protein dystrophin, muscle wasting, increased transforming growth factor type beta (TGF-β) signaling, and fibrosis. At the ...

    Authors: Daniel Cabrera, Jaime Gutiérrez, Claudio Cabello-Verrugio, Maria Gabriela Morales, Sergio Mezzano, Ricardo Fadic, Juan Carlos Casar, Juan L Hancke and Enrique Brandan

    Citation: Skeletal Muscle 2014 4:6

    Content type: Research

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  6. Via the hepatocyte growth factor receptor (Met), hepatocyte growth factor (HGF) exerts key roles involving skeletal muscle development and regeneration. Heparan sulfate proteoglycans (HSPGs) are critical modul...

    Authors: Jaime Gutiérrez, Daniel Cabrera and Enrique Brandan

    Citation: Skeletal Muscle 2014 4:5

    Content type: Research

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  7. Facioscapulohumeral muscular dystrophy (FSHD) is caused by epigenetic alterations at the D4Z4 macrosatellite repeat locus on chromosome 4, resulting in inappropriate expression of the DUX4 protein. The DUX4 pr...

    Authors: Darko Bosnakovski, Si Ho Choi, Jessica M Strasser, Erik A Toso, Michael A Walters and Michael Kyba

    Citation: Skeletal Muscle 2014 4:4

    Content type: Research

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  8. Duchenne muscle dystrophy (DMD) afflicts 1 million boys in the US and has few effective treatments. Constitutive transgenic expression of the transcriptional coactivator peroxisome proliferator-activated recep...

    Authors: Mun Chun Chan, Glenn C Rowe, Srilatha Raghuram, Ian S Patten, Caitlin Farrell and Zolt Arany

    Citation: Skeletal Muscle 2014 4:2

    Content type: Research

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  9. The NFATc transcription factor family is responsible for coupling cytoplasmic calcium signals to transcription programs in a wide variety of cell types. In skeletal muscle, these transcription factors control ...

    Authors: Patrick Robison, Erick O Hernández-Ochoa and Martin F Schneider

    Citation: Skeletal Muscle 2014 4:1

    Content type: Research

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  10. Heterotopic ossification (HO) is defined as the abnormal formation of mature bone in soft tissue, notably skeletal muscle. The morbidity of HO in polytraumatized patients impacts the functional outcome, impair...

    Authors: Guillaume Grenier, Élisabeth Leblanc, Nathalie Faucheux, Dominique Lauzier, Peter Kloen and Reggie C Hamdy

    Citation: Skeletal Muscle 2013 3:29

    Content type: Case report

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  11. Congenital muscular dystrophy Type 1A (MDC1A) is a severe, recessive disease of childhood onset that is caused by mutations in the LAMA2 gene encoding laminin-α2. Studies with both mouse models and primary cultur...

    Authors: Soonsang Yoon, Guido Stadler, Mary Lou Beermann, Eric V Schmidt, James A Windelborn, Peter Schneiderat, Woodring E Wright and Jeffrey Boone Miller

    Citation: Skeletal Muscle 2013 3:28

    Content type: Research

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  12. Alveolar rhabdomyosarcoma (aRMS) is a myogenic childhood sarcoma frequently associated with a translocation-mediated fusion gene, Pax3:Foxo1a.

    Authors: Ken Kikuchi, Eri Taniguchi, Hung-I Harry Chen, Matthew N Svalina, Jinu Abraham, Elaine T Huang, Koichi Nishijo, Sean Davis, Christopher Louden, Lee Ann Zarzabal, Olivia Recht, Ayeza Bajwa, Noah Berlow, Mònica Suelves, Sherrie L Perkins, Paul S Meltzer…

    Citation: Skeletal Muscle 2013 3:27

    Content type: Research

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  13. Musculin (MSC) is a basic helix-loop-helix transcription factor that inhibits myogenesis during normal development and contributes to the differentiation defect in rhabdomyosarcoma. As one of many transcriptio...

    Authors: Kyle L MacQuarrie, Zizhen Yao, Abraham P Fong and Stephen J Tapscott

    Citation: Skeletal Muscle 2013 3:26

    Content type: Research

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  14. Mitsugumin 53 (MG53) is a relatively newly identified tripartite motif-containing (TRIM) family muscle-specific E3 ubiquitin ligase that is expressed in skeletal muscle and the heart. It has been postulated to...

    Authors: Jennifer R Levy, Kevin P Campbell and David J Glass

    Citation: Skeletal Muscle 2013 3:25

    Content type: Commentary

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  15. The childhood neuromuscular disease spinal muscular atrophy (SMA) is caused by mutations or deletions of the survival motor neuron (SMN1) gene. Although SMA has traditionally been considered a motor neuron diseas...

    Authors: Justin G Boyer, Lyndsay M Murray, Kyle Scott, Yves De Repentigny, Jean-Marc Renaud and Rashmi Kothary

    Citation: Skeletal Muscle 2013 3:24

    Content type: Research

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  16. The nuclear poly(A) binding protein 1 (PABPN1) is a ubiquitously expressed proteinthat plays critical roles at multiple steps in post-transcriptional regulation ofgene expression. Short expansions of the polya...

    Authors: Luciano H Apponi, Anita H Corbett and Grace K Pavlath

    Citation: Skeletal Muscle 2013 3:23

    Content type: Research

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  17. Phosphatidylinositol phosphates (PIPs) are low-abundance phospholipids that participate in a range of cellular processes, including cell migration and membrane traffic. PIP levels and subcellular distribution ...

    Authors: Aaron Reifler, Guy M Lenk, Xingli Li, Linda Groom, Susan V Brooks, Desmond Wilson, Michyla Bowerson, Robert T Dirksen, Miriam H Meisler and James J Dowling

    Citation: Skeletal Muscle 2013 3:21

    Content type: Research

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  18. Presently, there is no effective treatment for the lethal muscle wasting disease Duchenne muscular dystrophy (DMD). Here we show that increased sphingosine-1-phoshate (S1P) through direct injection or via the ...

    Authors: Nicholas Ieronimakis, Mario Pantoja, Aislinn L Hays, Timothy L Dosey, Junlin Qi, Karin A Fischer, Andrew N Hoofnagle, Martin Sadilek, Jeffrey S Chamberlain, Hannele Ruohola-Baker and Morayma Reyes

    Citation: Skeletal Muscle 2013 3:20

    Content type: Research

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  19. microRNA regulation plays an important role in the remodeling that occurs in response to pathologic and physiologic stimuli in skeletal muscle. In response to stress, microRNAs are dynamically regulated, resul...

    Authors: Martin G Guess, Kristen KB Barthel, Emily K Pugach and Leslie A Leinwand

    Citation: Skeletal Muscle 2013 3:19

    Content type: Methodology

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  20. Proinflammatory cytokine tumor necrosis factor (TNF)-like weak inducer of apoptosis (TWEAK) and its receptor Fn14 are the major regulators of skeletal muscle mass in many catabolic conditions. However, their r...

    Authors: Shuichi Sato, Yuji Ogura, Vivek Mishra, Jonghyun Shin, Shephali Bhatnagar, Bradford G Hill and Ashok Kumar

    Citation: Skeletal Muscle 2013 3:18

    Content type: Research

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  21. Autosomal Emery-Dreifuss muscular dystrophy is caused by mutations in the lamin A/C gene (LMNA) encoding A-type nuclear lamins, intermediate filament proteins of the nuclear envelope. Classically, the disease man...

    Authors: Antoine Muchir, Young Jin Kim, Sarah A Reilly, Wei Wu, Jason C Choi and Howard J Worman

    Citation: Skeletal Muscle 2013 3:17

    Content type: Research

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  22. Cell growth and terminal differentiation are controlled by complex signaling systems that regulate the tissue-specific expression of genes controlling cell fate and morphogenesis. We have previously reported t...

    Authors: Christopher J Storbeck, Khalid N Al-Zahrani, Roshan Sriram, Sarah Kawesa, Paul O’Reilly, Kate Daniel, Marlene McKay, Rashmi Kothary, Catherine Tsilfidis and Luc A Sabourin

    Citation: Skeletal Muscle 2013 3:16

    Content type: Research

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  23. Duchenne muscular dystrophy (DMD) is one of the most frequent forms of muscular disorders. It is caused by the absence of dystrophin, a core component of the sarcolemma-associated junctional complex that links...

    Authors: Marianne Raith, Rocio G Valencia, Irmgard Fischer, Michael Orthofer, Josef M Penninger, Simone Spuler, Günther A Rezniczek and Gerhard Wiche

    Citation: Skeletal Muscle 2013 3:14

    Content type: Research

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  24. During the past decade, several animal studies have demonstrated that in addition to local cells, cells from the bone marrow (BM) possess the ability to contribute to regeneration of injured skeletal muscle ti...

    Authors: Anna Strömberg, Monika Jansson, Helene Fischer, Eric Rullman, Hans Hägglund and Thomas Gustafsson

    Citation: Skeletal Muscle 2013 3:12

    Content type: Research

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  25. A sophisticated level of coordinated gene expression is necessary for skeletal muscle fibers to obtain their unique functional identities. We have previously shown that the transcription factor Sox6 plays an e...

    Authors: Chung-Il An, Edward Ganio and Nobuko Hagiwara

    Citation: Skeletal Muscle 2013 3:11

    Content type: Research

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  26. Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy and an X-linked recessive, progressive muscle wasting disease caused by the absence of a functional dystrophin protein. Dystrophin has a ...

    Authors: James P Ennen, Mayank Verma and Atsushi Asakura

    Citation: Skeletal Muscle 2013 3:9

    Content type: Review

    Published on:

  27. Transcription factor overexpression is common in biological experiments and transcription factor amplification is associated with many cancers, yet few studies have directly compared the DNA-binding profiles o...

    Authors: Zizhen Yao, Abraham P Fong, Yi Cao, Walter L Ruzzo, Robert C Gentleman and Stephen J Tapscott

    Citation: Skeletal Muscle 2013 3:8

    Content type: Research

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  28. Krüppel-like factor 6 (KLF6) has been recently identified as a MEF2D target gene involved in neuronal cell survival. In addition, KLF6 and TGFβ have been shown to regulate each other’s expression in non-myogen...

    Authors: Mathew G Dionyssiou, Jahan Salma, Mariya Bevzyuk, Stephanie Wales, Lusine Zakharyan and John C McDermott

    Citation: Skeletal Muscle 2013 3:7

    Content type: Research

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  29. Skeletal muscle mass is determined by the balance between protein synthesis and degradation. Mammalian target of rapamycin complex 1 (mTORC1) is a master regulator of protein translation and has been implicate...

    Authors: C Florian Bentzinger, Shuo Lin, Klaas Romanino, Perrine Castets, Maitea Guridi, Serge Summermatter, Christoph Handschin, Lionel A Tintignac, Michael N Hall and Markus A Rüegg

    Citation: Skeletal Muscle 2013 3:6

    Content type: Research

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  30. The clinical features of myofibrillar myopathies display a wide phenotypic heterogeneity. To this date, no studies have evaluated this parameter due to the absence of pertinent animal models. By studying two m...

    Authors: Pierre Joanne, Oussama Chourbagi, Christophe Hourdé, Arnaud Ferry, Gillian Butler-Browne, Patrick Vicart, Julie Dumonceaux and Onnik Agbulut

    Citation: Skeletal Muscle 2013 3:4

    Content type: Research

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  31. The complexity of the skeletal muscle and the identification of numerous human disease-causing mutations in its constitutive proteins make it an interesting tissue for proteomic studies aimed at understanding ...

    Authors: Gaëlle Blandin, Sylvie Marchand, Karine Charton, Nathalie Danièle, Evelyne Gicquel, Jean-Baptiste Boucheteil, Azéddine Bentaib, Laetitia Barrault, Daniel Stockholm, Marc Bartoli and Isabelle Richard

    Citation: Skeletal Muscle 2013 3:3

    Content type: Research

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  32. Satellite cells are rare mononuclear skeletal muscle-resident cells that are the chief contributors to regenerative myogenesis following muscle injury. Although first identified more than 50 years ago, it is o...

    Authors: Akshay Bareja and Andrew N Billin

    Citation: Skeletal Muscle 2013 3:2

    Content type: Review

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  33. Mice from the MRL or “superhealing” strain have enhanced repair after acute injury to the skin, cornea, and heart. We now tested an admixture of the MRL genome and found that it altered the course of muscle pa...

    Authors: Ahlke Heydemann, Kayleigh A Swaggart, Gene H Kim, Jenan Holley-Cuthrell, Michele Hadhazy and Elizabeth M McNally

    Citation: Skeletal Muscle 2012 2:26

    Content type: Research

    Published on:

  34. Cell-transplantation therapies have attracted attention as treatments for skeletal-muscle disorders; however, such research has been severely limited by poor cell survival. Tissue engineering offers a potentia...

    Authors: Claudia Fuoco, Maria Lavinia Salvatori, Antonella Biondo, Keren Shapira-Schweitzer, Sabrina Santoleri, Stefania Antonini, Sergio Bernardini, Francesco Saverio Tedesco, Stefano Cannata, Dror Seliktar, Giulio Cossu and Cesare Gargioli

    Citation: Skeletal Muscle 2012 2:24

    Content type: Research

    Published on:

  35. The family of mammalian sialidases is composed of four distinct versatile enzymes that remove negatively charged terminal sialic acid residues from gangliosides and glycoproteins in different subcellular areas...

    Authors: Alessandro Fanzani, Alessandra Zanola, Fiorella Faggi, Nadia Papini, Bruno Venerando, Guido Tettamanti, Maurilio Sampaolesi and Eugenio Monti

    Citation: Skeletal Muscle 2012 2:23

    Content type: Review

    Published on:

  36. Satellite cells are resident skeletal muscle stem cells responsible for muscle maintenance and repair. In resting muscle, satellite cells are maintained in a quiescent state. Satellite cell activation induces ...

    Authors: Nicholas H Farina, Melissa Hausburg, NicoleDalla Betta, Crystal Pulliam, Deepak Srivastava, DDW Cornelison and Bradley B Olwin

    Citation: Skeletal Muscle 2012 2:21

    Content type: Research

    Published on:

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