Results 81 to 90 of about 898,304 (304)

Linkages between changes in the 3D organization of the genome and transcription during myotube differentiation in vitro

Skeletal Muscle, 2017
Background The spatial organization of eukaryotic genomes facilitates and reflects the underlying nuclear processes that are occurring in the cell. As such, the spatial organization of a genome represents a window on the genome biology that enables ...
Malina D. Doynova, James F. Markworth, David Cameron-Smith, Mark H. Vickers, Justin M. O’Sullivan   +4 more
doaj   +1 more source

Expression of MuRF1 or MuRF2 is essential for the induction of skeletal muscle atrophy and dysfunction in a murine pulmonary hypertension model

Skeletal Muscle, 2020
Background Pulmonary hypertension leads to right ventricular heart failure and ultimately to cardiac cachexia. Cardiac cachexia induces skeletal muscles atrophy and contractile dysfunction.
Thanh Nguyen, T. Scott Bowen, Antje Augstein, Antje Schauer, Alexander Gasch, Axel Linke, Siegfried Labeit, Volker Adams   +7 more
doaj   +1 more source

Tissue-specific expression of high-voltage-activated dihydropyridine-sensitive L-type calcium channels [PDF]

, 1991
The cloning of the cDNA for the α1 subunit of L-type calcium channels revealed that at least two genes (CaCh1 and CaCh2) exist which give rise to several splice variants.
Caffrey J. M., Catterall W. A., Ellis S. B., Glossmann H., Grabner M., Hofmann F., Hoshi T., Jay S. D., Jongh K. S., Kim H. S., Koch W. J., Koch W. J., Melton D. A., Olson E. N., Perez-Reyes E., Rampe D. E., Reuter H., Ruth P., Ruth P., Sambrook J., Sanger F., Schubert D., Shih H.-T., Snutch T. P., Tanabe T., Thomas P. S., Tsien R. W.   +26 more
core   +2 more sources

A 73‐Year‐Old Man With Several Years of Difficulty Climbing Stairs and Frequent Tripping

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 73‐year‐old man presented with progressive weakness and atrophy predominantly affecting the distal finger flexors and quadriceps muscles. Electrophysiological studies demonstrated mixed myogenic and neurogenic features. Muscle MRI showed inflammatory changes, and muscle biopsy revealed granulomatous myositis with histologic features ...
Mehmet Can Sari, Arens Taga, Sonya Ulrike Steele, Ahmet Hoke   +3 more
wiley   +1 more source

Identifying kinematic biomarkers of the dystrophic phenotype in a zebrafish model of Duchenne muscular dystrophy

Skeletal Muscle
Background Dystrophin-deficient zebrafish larvae are a small, genetically tractable vertebrate model of Duchenne muscular dystrophy that is well suited for early-stage therapeutic development.
Jeffrey J. Widrick, Matthias R. Lambert, Felipe de Souza Leite, Youngsook Lucy Jung, Junseok Park, James R. Conner, Eunjung Alice Lee, Alan H. Beggs, Louis M. Kunkel   +8 more
doaj   +1 more source

Progressive impairment of CaV1.1 function in the skeletal muscle of mice expressing a mutant type 1 Cu/Zn superoxide dismutase (G93A) linked to amyotrophic lateral sclerosis [PDF]

, 2016
Background: Amyotrophic lateral sclerosis (ALS) is an adult-onset neurodegenerative disorder that is typically fatal within 3–5 years of diagnosis. While motoneuron death is the defining characteristic of ALS, the events that underlie its pathology are
Bannister, Roger A., Beqollari, Donald, Dobrowolny, Gabriella, Martini, Martina, Musarò, Antonio, Romberg, Christin F., Voss, Andrew A.   +6 more
core   +2 more sources

Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24‐Month Follow‐Up From the Italian Registry

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane, Giorgia Coratti, Chiara Cutrì, Antonio Varone, Riccardo Masson, Adele D'Amico, Valeria Sansone, Sonia Messina, Federica Ricci, Chiara Ticci, Claudio Bruno, Caterina Agosto, Francesca Benedetti, Antonella Pini, Sabrina Siliquini, Massimiliano Filosto, Alberto Zambon, Ilaria Bitetti, Maria Rosaria Manna, Claudia Dosi, Riccardo Zanin, Stefano Parravicini, Roberto De Sanctis, Giulia Stanca, Michela Catteruccia, Michele Tosi, Irene Mizzoni, Emilio Albamonte, Valentina Franchino, Maria Sframeli, Ilaria Cavallina, Elena Procopio, Michele Sacchini, Simone Morando, Noemi Brolatti, Federica Trucco, Gaia Scarpini, Elena Briganti, Beatrice Berti, Concetta Palermo, Daniela Leone, Stefano C. Previtali, Eugenio Mercuri, the ITASMAC working group   +43 more
wiley   +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

Enhancement of K+ conductance improves in vitro the contraction force of skeletal muscle in hypokalemic periodic paralysis [PDF]

, 1990
An abnormal ratio between Na+ and K+ conductances seems to be the cause for the depolarization and paralysis of skeletal muscle in primary hypokalemic periodic paralysis.
Ballanyi, Beam, Bretag, Cook, Engel, Escande, Fosset, Hamilton, Huang, Iaizzo, Lehmann-Horn, Quasthoff, Ruff, Ruff, R�del, R�del, Sanguinetti, Spuler, Sturgess, Tanabe   +19 more
core   +1 more source