Results 161 to 170 of about 1,375,049 (303)

A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant

Animal Models and Experimental Medicine, EarlyView.
Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund, Brian LaMendola, Nathan P. Crilly, Seth Kittle, Betsy M. Ferguson, Anne D. Lewis, Jeff Wall, Samuel M. Peterson   +7 more
wiley   +1 more source

Spatial proteomics identifies FXYD6 as a dual-site protein of neuromuscular junction in the diaphragm. [PDF]

Commun Biol
Eapen N, Schmidt L, Saynisch M, Lackmann JW, Hoegsbjerg C, Mackey AL, Koch M, Brachvogel B, Antczak P, Krüger M.   +9 more
europepmc   +1 more source

Patient‐Derived Fibroblasts as a Clinically Relevant Model of Kearns–Sayre Syndrome

Annals of Neurology, EarlyView.
Objective Kearns–Sayre syndrome (KSS) is characterized by single large‐scale mitochondrial DNA deletions and by severe early‐onset clinical manifestations with neurological involvement. Reliable disease models, as well as validated biomarkers or effective treatments, are lacking.
Laura Valls‐Roca, Adrià Vilaseca‐Capel, Judith Cantó‐Santos, Ester Tobías, Félix Andújar‐Sánchez, Laia Farré‐Tarrats, Frederic Tort, Carles Rentero, Carlos Enrich, Virginia López, Juan R. Tejedor, Anna Esteve‐Codina, Cristina Núñez de Arenas, Pedro J. Moreno‐Lozano, José C. Milisenda, Mar O'Callaghan, Teresa García‐Silva, Montserrat Morales‐Conejo, Mario F. Fraga, Rafael Artuch, Miguel Á. Martín, José M. Cuezva, Ana Matas, Glòria Garrabou, Mariona Guitart‐Mampel   +24 more
wiley   +1 more source

Hypertrophic cardiomyopathy-linked Tnnc1 variants are associated with distinct myopathic changes in slow skeletal muscle of mice. [PDF]

J Muscle Res Cell Motil
Patel S, da Silva Santos GL, Florence J, Kahmini AR, Shi Y, Garcia MR, Gordon BS, Chase PB, Solís C, Laitano O, Pinto JR, Parvatiyar MS.   +11 more
europepmc   +1 more source

Revisiting paravertebral muscles in European rabbits (Oryctolagus cuniculus) and European brown hares (Lepus europaeus) (Leporidae; Lagomorpha)

The Anatomical Record, EarlyView.
Abstract Domesticated European rabbits (Oryctolagus cuniculus) have long been chosen as laboratory model organisms. Despite this, there has been no definitive study of the vertebral musculature of wild rabbits. Relevant descriptions of well‐studied veterinary model mammals (such as dogs) are generally applicable, but not appropriate for a species ...
Nuttakorn Taewcharoen, Emma Sherratt, Philip Stott, Rachel Norris   +3 more
wiley   +1 more source

Local Suppression of <i>Dgat2</i> Augments Fatty Acid Oxidation in Skeletal Muscle in High-Fat Diet-Fed Mice. [PDF]

J Microbiol Biotechnol
Jiyun Y, Park JY, Kwon MG, Kim ES, Oh RH, Seo BB, Bu SY.   +6 more
europepmc   +1 more source

Multi‐method analysis for the three‐dimensional reconstruction of muscle fascicles from DiceCT datasets

The Anatomical Record, EarlyView.
Abstract Muscle architecture is a major determinant of muscle performance and, in mammalian lineages, has been correlated with both feeding ecology and locomotor behaviors. Over the past decade, contrast‐enhanced micro‐CT (DiceCT) has emerged as an alternative to traditional dissection‐based measurement.
Aleksandra Ratkiewicz, Michael C. Granatosky, Cassidy E. Davis, Julia Molnar, Adam Hartstone‐Rose, Edwin Dickinson   +5 more
wiley   +1 more source

Self-organization of vascularized muscle from bovine embryonic stem cells. [PDF]

Nat Commun
Sanaki-Matsumiya M, Sanaki Y, Villava C, Rappez L, Gritti N, Nakaki F, Sharpe J, Haase K, Wu J, Ebisuya M.   +9 more
europepmc   +1 more source

Effects of intermittent exposure to hypobaria and cold on the microarchitecture and morphofunctional profile of rat gastrocnemius muscle

The Anatomical Record, EarlyView.
Abstract Intermittent hypobaric hypoxia (IHH) enhances oxygen transport, muscle metabolism, and cardiovascular health; however, the combined effects of hypobaria and cold are less well understood. Exposure to these stressful environmental factors, even intermittently, can affect skeletal muscle due to its plasticity, thereby altering its metabolic and ...
Garoa Santocildes, Teresa Pagès, Ginés Viscor, Joan Ramon Torrella   +3 more
wiley   +1 more source

Manufacturing, Cell Regulation, and Coculture Strategies for Vascularization and Neural Innervation of Skeletal Muscle Tissue. [PDF]

Adv Healthc Mater
Wang Z, He X, Zhong S, Liu J, Shi Z, Yin R, Liu Y.   +6 more
europepmc   +1 more source