Results 71 to 80 of about 1,470,518 (253)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 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

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  

Plasma EV Proteomics Identifies ECM Remodeling and Inflammatory Proteins LUM and C7 as Candidate Biomarkers in FSHD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit, Chiranth K. Nagaraj, Jackson S. Newell, Kim Truc Nguyen, Xilal Y. Rima, Jacob Doon‐Ralls, Eduardo Reátegui, Jeffrey M. Statland, Rabi Tawil, Kevin M. Flanigan, Scott Q. Harper, Nizar Y. Saad   +11 more
wiley   +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

Advances in research on the prenatal development of skeletal muscle in animals in relation to the quality of muscle-based food. I - Regulation of myogenesis and environmental impact [PDF]

, 2010
Skeletal muscle development in vertebrates – also termed myogenesis – is a highly integrated process. Evidence to date indicates that the processes are very similar across mammals, poultry and fish, although the timings of the various steps differ ...
Wimmers, K, Nottingham, Te Pas, M. F. W., N. Oksbjerg, Te Pas, M. F.W., Stickland, N C, Algarve, Rehfeldt, C., Stickland, Neil, Rehfeldt, Charlotte, Oksbjerg, Niels, Brameld, J M, Picard, Brigitte, B., Te Pas, Marinus, Pas, M, Nissen, P M, Power, D M, Valente, L M P, K. Wimmers, Oksbjerg, N, Nissen, Pia, Wimmers, Klaus, Valente, L.M.P., Brameld, J. M., Leibniz Institute For Farm Animals, M.F.W. Te Pas, Picard, B., Stickland, N.C., Pas, M.F.W., te, Berri, C., Picard, B, Nissen, P. M., B. Picard, Stickland, N. C., Berri, C, Rehfeldt, C, P.M. Nissen, Valente, L. M.P., Valente, Luísa, Power, Deborah, Wageningen UR, The Netherlands, Brameld, John, INRA, France, Nissen, P.M., te Pas, M.F.W., Brameld, J.M., Aarhus, C. Rehfeldt, Wimmers, K., N.C. Stickland, Power, D. M., C. Berri, D.M. Power, Valente, L. M. P., J.M. Brameld, Power, D.M., L.M.P. Valente, Berri, Cécile, Porto, Oksbjerg, N.   +59 more
core   +1 more source

Regulation of murine skeletal muscle growth by STAT5B is age- and sex-specific.

, 2022
BackgroundSexually dimorphic growth has been attributed to the growth hormone (GH)/insulin-like growth factor 1 (IGF1) axis, particularly GH-induced activation of the intracellular signal transducer and activator of transcription 5B (STAT5B), because ...
Hennebry, Alex S, Conaglen, John V, Elston, Marianne S, McMahon, Chris D, Paul, Ryan G   +4 more
core   +1 more source

Troponin T and Neurofilament Light Chain Levels as Complementary Biomarkers of Disease Accumulation and Aggressiveness in Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a clinically heterogeneous neurodegenerative disease requiring reliable biomarkers to improve patient stratification and trial design. While serum neurofilament light chain (sNfL) reflects neuroaxonal stress and disease aggressiveness, troponin T (TnT) may capture complementary aspects of ...
Julia Sellin, Sofia Waldorf, Janina von der Gablentz, Torsten Grehl, Huelya Nazlican, Thomas Meyer, Julian Grosskreutz, Patrick Weydt, Sarah Bernsen   +8 more
wiley   +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