Results 41 to 50 of about 5,789 (161)

A Wagner–Meerwein‐Like Rearrangement Generates a Vinyl Group in the Biosynthesis of the Polychlorinated Lipopeptides Fischerazoles

Angewandte Chemie, Volume 138, Issue 37, 7 September 2026.
The fischerazoles, unusual cyanobacterial chlorinated lipopeptides are reported. During their biosynthesis, a linear fatty acyl‐acyl carrier protein (ACP) precursor is rearranged through the action of the S‐adenosyl‐methionine (SAM)‐dependent methyltransferase FshF, to generate a pendant vinyl group.
Sandra A. C. Figueiredo, Kathleen Abt, Konrad Viehrig, Peter J. Jervis, Teresa P. Martins, Iñaki Lacomba, Chuhan Li, Daniele Castagnolo, Pedro N. Leão   +8 more
wiley   +2 more sources

Update on the Molecular Aspects and Methods Underlying the Complex Architecture of FSHD

Cells, 2022
Despite the knowledge of the main mechanisms involved in facioscapulohumeral muscular dystrophy (FSHD), the high heterogeneity and variable penetrance of the disease complicate the diagnosis, characterization and genotype–phenotype correlation of ...
Valerio Caputo, Domenica Megalizzi, Carlo Fabrizio, Andrea Termine, Luca Colantoni, Carlo Caltagirone, Emiliano Giardina, Raffaella Cascella, Claudia Strafella   +8 more
doaj   +1 more source

Ret function in muscle stem cells points to tyrosine kinase inhibitor therapy for facioscapulohumeral muscular dystrophy

eLife, 2016
Facioscapulohumeral muscular dystrophy (FSHD) involves sporadic expression of DUX4, which inhibits myogenesis and is pro-apoptotic. To identify target genes, we over-expressed DUX4 in myoblasts and found that the receptor tyrosine kinase Ret was ...
Louise A Moyle, Eric Blanc, Oihane Jaka, Johanna Prueller, Christopher RS Banerji, Francesco Saverio Tedesco, Stephen DR Harridge, Robert D Knight, Peter S Zammit   +8 more
doaj   +1 more source

Ultrafast Micrometric Laser Structuring of Polymer Surfaces for Highly Organized Skeletal Muscle Tissue Modeling

Advanced Science, EarlyView.
Standard cell culture supports were functionalized by laser‐structuring to generate advanced topographies tailored to skeletal muscle tissue. The physicochemical modifications of the polymeric surfaces and their interactions with cells were thoroughly investigated, confirming both safety and effectiveness in guiding muscle cell organization.
Lucas Duvert, Lorena Garcia‐Castillo, Clarissa Murru, Adrien Casanova, Daniel Ferry, Pierre Perrin, Solene Coste, Anne Bigot, Anne‐Patricia Alloncle, Frederique Magdinier, Stefano Testa   +10 more
wiley   +1 more source

Arthrogryposis Multiplex Congenita in Pediatric Age: Correlation Between MUScular MRI and Functional Evaluation (AMUSE), Toward a Biomechanical Model

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) is a group of diseases with joint limitations at two or more distinct joint levels at birth. Joint limitations are not progressive, but the functional consequences have a lifelong impact on patients. The management of these conditions is therefore demanding, necessarily multidisciplinary, and is a long ...
Alicia‐Marine Milot, Mariya Raykova, Claire Huzar, Véronique Thellier, Nicolas Hergibo, Marjolaine Gauthier, Gipsy Billy‐Lopez, Chantal Durand, Frédérique Nugues, Véronique Bourg, Klaus Dieterich   +10 more
wiley   +1 more source

Cytoskeleton–Membrane Uncoupling in Duchenne Muscular Dystrophy: Implications for Newborn Screening and Early Protection

Cytoskeleton, EarlyView.
ABSTRACT The cytoskeleton of striated muscle integrates force transmission, mechanotransduction, and sarcolemmal stability through coordinated networks of sarcomeres, costameres, and intermediate filaments. Together, these systems establish mechanical continuity between the contractile apparatus, the sarcolemma, and the extracellular matrix.
Houda Cohen, Nora Hosny, Brian R. Thompson, Joseph M. Metzger   +3 more
wiley   +1 more source

Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene [PDF]

, 2021
Background: Facioscapulohumeral dystrophy (FSHD) is an inherited muscular dystrophy clinically characterised by muscle weakness starting with the facial and upper extremity muscles.
Goselink, R., Voermans, N.C., Tawil, R., Tapscott, S.J., Zidar, J., Padberg, G.W.A.M., Blatnik, A., Engelen, B.G.M. van, Maarel, S.M. van der, Henderson, D., Vliet, P.J. van der, Lemmers, R.J.L.F., Balog, J.   +12 more
core   +1 more source

Rbfox1 downregulation and altered calpain 3 splicing by FRG1 in a mouse model of Facioscapulohumeral muscular dystrophy (FSHD).

PLoS Genetics, 2013
Facioscapulohumeral muscular dystrophy (FSHD) is a common muscle disease whose molecular pathogenesis remains largely unknown. Over-expression of FSHD region gene 1 (FRG1) in mice, frogs, and worms perturbs muscle development and causes FSHD-like ...
Mariaelena Pistoni, Lily Shiue, Melissa S Cline, Sergia Bortolanza, Maria Victoria Neguembor, Alexandros Xynos, Manuel Ares, Davide Gabellini   +7 more
doaj   +1 more source

Reachable Workspace as a Clinical Outcome for Upper Extremity Function: A Narrative Review

Muscle &Nerve, EarlyView.
ABSTRACT Motion sensing technology can be utilized to capture detailed upper extremity (UE) motion to reconstruct an individual's three‐dimensional (3D) reachable workspace (RWS). The RWS can be quantified as relative surface area (RSA), providing an innovative surrogate measure to assess UE mobility and function.
Jay J. Han, Lawrence J. Hayward, Christina Adams, Juan Perez‐Ibarra   +3 more
wiley   +1 more source

Investigation of the Effect of Estrogen on DUX4/β-Katenin/PAX3-7 Protein Levels in Facioscapulohumeral Muscular Dystrophy (FSHD) [PDF]

, 2019
objective: ln Facioscapulohumeral Dystrophy(FSHD) lt is noteworthy that the findings Progressed at an earlier age in men, and the disease worsens in postmenopausal women.
Kaya, Hacer, Berker Karaüzüm, Sibel, Hangül, Ceren, Eroğlu, Onur, Güvenir Çelik, Esin, Uysal, Hilmi   +5 more
core   +1 more source