Results 91 to 100 of about 1,532,239 (311)

Distinct gene expression patterns in skeletal and cardiac muscle are dependent on common regulatory sequences in the MLC1/3 locus [PDF]

, 1996
The myosin light-chain 1/3 locus (MLC1/3) is regulated by two promoters and a downstream enhancer element which produce two protein isoforms in fast skeletal muscle at distinct stages of mouse embryogenesis. We have analyzed the expression of transcripts
McGrew, M J; id_orcid, Hasegawa, K, Bogdanova, N, Kitsis, R N, Rosenthal, N, Hughes, S H   +5 more
core  

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

Glucagon‐Like Peptide‐1 Receptor Agonists in Multiple Sclerosis: A Topical Narrative Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The glucagon‐like peptide‐1 (GLP‐1) receptor agonists (RAs) are a relatively new class of drugs that were initially approved by the US Food and Drug Administration to improve glycemic control in patients with type 2 diabetes mellitus and, subsequently, weight reduction in patients with obesity.
Audrey Y. Chang, Farrah J. Mateen
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

Clinical Variability and Genotype Driven Outcomes in an International Cohort of 14 Pediatric FIG4 Patients

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Biallelic FIG4 variants classically cause distinct conditions characterized by peripheral neuropathy (Charcot‐Marie‐Tooth disease type 4J) or skeletal dysplasia (Yunis‐Varón syndrome). However, central nervous system involvement is increasingly recognized. The prevalence and specific characteristics of movement disorders within FIG4‐
Andrea Gangfuß, Vykuntaraju K. Gowda, Daniel Natera‐de Benito, Pinki Munot, Maria Vanegas, Alejandra Darling, Constanze Reutlinger, Laura Carrera‐Garcia, Gilbert Wunderlich, Heike Kölbel, Burkhard Stüve, David Muhmann, Lucía Monfort Belenguer, Diana‐Gabriela Barca, Viveka Santhosh Reddy C, Varunvenkat M. Srinivasan, Cristina Molina Anguita, Heinz Jungbluth, Hormos Salimi Dafsari, Thomas Rossor, Johann Böhm, Ulrike Schara‐Schmidt, Andreas Roos   +22 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