Results 81 to 90 of about 1,531,774 (311)

THE TEMPERATURE OF SKELETAL MUSCLES [PDF]

The Journal OF Nervous and Mental Disease, 1922
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openaire   +1 more source

Generation of a novel mouse model of nemaline myopathy due to recurrent NEB exon 55 deletion

Skeletal Muscle
Biallelic pathogenic variants in the nebulin (NEB) gene lead to the congenital muscle disease nemaline myopathy. In-frame deletion of exon 55 (ΔExon55) is the most common disease-causing variant in NEB.
Zachary Coulson, Justin Kolb, Nesrin Sabha, Esmat Karimi, Zaynab Hourani, Coen Ottenheijm, Henk Granzier, James J. Dowling   +7 more
doaj   +1 more source

NAD+ improves neuromuscular development in a zebrafish model of FKRP-associated dystroglycanopathy

Skeletal Muscle, 2019
Background Secondary dystroglycanopathies are muscular dystrophies that result from mutations in genes that participate in Dystroglycan glycosylation.
Erin C. Bailey, Sarah S. Alrowaished, Elisabeth A. Kilroy, Emma S. Crooks, Daisy M. Drinkert, Chaya M. Karunasiri, Joseph J. Belanger, Andre Khalil, Joshua B. Kelley, Clarissa A. Henry   +9 more
doaj   +1 more source

Myostatin/Smad3 in Spinal Muscular Atrophy: Biomarkers of Disease Severity and Treatment Response

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Given the role of Myostatin (MSTN) in muscle homeostasis and its modulation by current spinal muscular atrophy (SMA) therapies, we investigated serum MSTN and, for the first time, its downstream effector Smad3 as candidate non‐invasive biomarkers in SMA patients undergoing disease‐modifying therapies (DMTs).
Giorgia Riolo, Claudia Dosi, Stefano Parravicini, Riccardo Zanin, Marta Cheli, Eleonora Giacopuzzi Grigoli, Amalia Canciello, Francesca Andreetta, Riccardo Masson, Silvia Bonanno, Stefania Marcuzzo, Lorenzo Maggi   +11 more
wiley   +1 more source

Temporal effects of mechanical loading on deformation-induced damage in skeletal muscle tissue [PDF]

, 2010
Mechanical loading of soft tissues covering bony prominences can cause skeletal muscle damage, ultimately resulting in a severe pressure ulcer termed deep tissue injury.
S. Loerakker, Bader, D.L., K. Nicolay, C. W. J. Oomens, Loerakker, S., Oomens, C.W.J., Stekelenburg, A., G. J. Strijkers, Strijkers, G.j., D. L. Bader, Baaijens, F.P.T., Rijpkema, J.J.M., J. J. M. Rijpkema, F. P. T. Baaijens, A. Stekelenburg, Nicolay, K.   +15 more
core   +1 more source

DUX4 at 25: how it emerged from “junk DNA” to become the cause of facioscapulohumeral muscular dystrophy

Skeletal Muscle
Double Homeobox 4 (DUX4) is a potent transcription factor encoded by a retrogene mapped in D4Z4 repeated elements on chromosome 4q35. DUX4 has emerged as pivotal in the pathomechanisms of facioscapulohumeral muscular dystrophy (FSHD), a relatively common
Alexandra Belayew, Alberto L. Rosa, Peter S. Zammit   +2 more
doaj   +1 more source

Anorectal Dysfunction in Systemic Sclerosis: Clinical Phenotypes and Functional Patterns

Arthritis Care &Research, EarlyView.
Objective The aim of this study was to characterize specific physiologic defects in anorectal dysfunction in systemic sclerosis (SSc) using anorectal manometry (ARM), evaluate associations with gastrointestinal (GI) and extraintestinal clinical phenotypes, and explore potential serologic markers for risk stratification.
Timothy Kaniecki, Alireza Amindarolzarbi, Tsion Abdi, John Clarke, Michael Hughes, Ami A. Shah, Zsuzsanna H. McMahan   +6 more
wiley   +1 more source

The role of the coactivators PGC-1α and PGC-1β in retina and skeletal muscle [PDF]

, 2011
Peroxisome proliferator-activated receptor γ coactivator- 1 (PGC-1) designates a family of coactivators consisting of PGC-1α, PGC-1β and PRC. By associating with transcription factors like nuclear receptors, they induce transcription of target genes that
Egger, A, Egger, Anna Franziska
core   +1 more source

TET exhibits enzymatic-independent and-dependent functions during Drosophila flight muscle development and aging

Skeletal Muscle
Background Enzymes of the Ten-Eleven Translocation family are responsible for 5-methylcytosine (5mC) oxidation and play a key role in regulating DNA demethylation during various developmental processes, including myogenesis.
Vincent Gerdy, Emilie Plantié, Romane Bertrand, Yoan Renaud, Guillaume Junion, Laurence Vandel, Lucas Waltzer   +6 more
doaj   +1 more source

PPARδ regulates satellite cell proliferation and skeletal muscle regeneration

Skeletal Muscle, 2011
Peroxisome proliferator-activated receptors (PPARs) are a class of nuclear receptors that play important roles in development and energy metabolism. Whereas PPARδ has been shown to regulate mitochondrial biosynthesis and slow-muscle fiber types, its ...
Angione Alison R, Jiang Chunhui, Pan Dongning, Wang Yong-Xu, Kuang Shihuan   +4 more
doaj   +1 more source