Results 61 to 70 of about 98,011 (316)

Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce, Goknur Selen Kocak, José Verdú‐Díaz, Jorge Alonso‐Pérez, Kristl G. Claeys, Tanya Stojkovic, Gorka Fernández‐Eulate, Pascal Laforêt, Najoua Miladi, Filipe Di Pace, Cristiane Araujo Martins Moreno, Edmar Zanoteli, Conrad C. Weihl, Volker Straub, Ana Töpf, Jordi Díaz‐Manera, Sarcoglycan European Cohort Consortium, Adele D′Amico, Adolfo López de Munain, Alicia Alonso‐Jiménez, Ana Camacho‐Salas, Andrea Gangfuß, Andrés Nascimento, Anna Sarkozy, Anneke J. van der Kooi, Arturo Fraga‐Bau, Béla Melegh, Benedikt Schoser, Bjarne Udd, Blaz Koritnik, Carlos Ortez, Chiara Marini Bettolo, Chiara Panicucci, Claudia Weiss, Claudio Bruno, Claudio Semplicini, Cristina Dominguez‐González, Cristina Garrido, David Gómez‐Andrés, Edoardo Malfatti, Elena Pegoraro, Elke De Vos, Francina Munell, Gabriele Dekomien, Giacomo Pietro Comi, Giorgio Tasca, Isabelle Richard, Jan L. De Bleecker, Jana Haberlová, Jesper Helbo Storgaard, Johanna Palmio, John Vissing, Juan Carlos de Leon‐Hernández, Kinga Hadzsiev, Laura Costa‐Comellas, Lea Leonardis, Leroy ten Dam, Lidia González‐Quereda, Luca Bello, Luisa Politano, Manuela Santos, Marianne de Visser, Marie Rohlenová, Matteo Garibaldi, Michela Guglieri, Nicolas Deconinck, Nicoline Løkken, Omar Abdel‐Mannan, Pia Gallano, Roberto Fernández‐Torrón, Ulrike Schara‐Schmidt, Vincenzo Nigro, Vittoria Zangaro   +72 more
wiley   +1 more source

Molecular mechanisms underlying the impact of muscle fiber types on meat quality in livestock and poultry

Frontiers in Veterinary Science, 2023
In the past, the primary emphasis of livestock and poultry breeding was mainly on improving the growth rate, meat production efficiency and disease resistance.
Meijie Mo, Zihao Zhang, Xiaotong Wang, Wenjin Shen, Li Zhang, Shudai Lin   +5 more
doaj   +1 more source

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

Absence of physiological Ca2+ transients is an initial trigger for mitochondrial dysfunction in skeletal muscle following denervation [PDF]

, 2017
Background: Motor neurons control muscle contraction by initiating action potentials in muscle. Denervation of muscle from motor neurons leads to muscle atrophy, which is linked to mitochondrial dysfunction.
Lin Zhang, Kaitao Li, Li, Xuejun, Kamal Dhakal, Chehade Karam, Xuejun Li, Heping Cheng, Jingsong Zhou, Zhang, Lin, Yajuan Xiao, Dhakal, Kamal, Yi, Jianxun, Jiejia Xu, Xiao, Yajuan, Manno, Carlo, Carlo Manno, Xu, Jiejia, Karam, Chehade, Ma, Jianjie, Jianjie Ma, Zhou, Jingsong, Li, Kaitao, Cheng, Heping, Jianxun Yi   +23 more
core   +1 more source

Crosstalk among canonical Wnt and Hippo pathway members in skeletal muscle and at the neuromuscular junction

Neural Regeneration Research
Skeletal muscles are essential for locomotion, posture, and metabolic regulation. To understand physiological processes, exercise adaptation, and muscle-related disorders, it is critical to understand the molecular pathways that underlie skeletal muscle ...
Said Hashemolhosseini, Lea Gessler
doaj   +1 more source

EFFECT OF URSOLIC ACID, HYPERINSULINEMIA AND VITAMIN B COMPLEX ON SOME BIOCHEMICAL PARAMETERS AND SKELETAL MUSCLE HISTOLOGY OF ALLOXAN INDUCED DIABETIC RABBITS [PDF]

Basrah Journal of Veterinary Research, 2017
This study aimed to evaluate the effect of ursolic acid, hyperinsulinemia and vitamin B complex in skeletal muscle, which represented by Gastrocnemius muscle after sciatic nerve crush in diabetes mellitus male rabbits, determine their effects on some ...
Shaymae, H. Shabaa, Abdul Razzaq N. Khudair   +2 more
doaj   +1 more source

Advances in Sustainable and Wearable Textile Based Soft Robotics

Advanced Functional Materials, EarlyView.
This Review examines advances in wearable textile‐based soft robotics, focusing on sustainable materials, integrated sensing, and scalable actuation. It discusses manufacturing and system integration across healthcare, assistive robotics, prosthetics, and human–machine interfaces, and highlights key challenges in circular design, including life‐cycle ...
Zahir Abbas, Marzia Dulal, Sophia K. Novoselov, Victoria K. Novoselov, Kostya S. Novoselov, Shaila Afroj, Nazmul Karim   +6 more
wiley   +1 more source

Shaping Matter with Acoustic Waves: From Particles to Functional Structures

Advanced Functional Materials, EarlyView.
Acoustic‐directed assembly is reviewed as a materials‐oriented strategy for organizing particles, polymers, metals, and biological systems into functional structures. The review distinguishes reversible manipulation from permanent structure formation through medium fixation, particle fixation, and in situ material generation, highlighting routes toward
Avraham Kenigsberg, Shelly Zlotnikov, Maya Fiorentino, Yuval Elias, Ornit Nagler‐Avramovitz, Hagay Shpaisman   +5 more
wiley   +1 more source

A non-linear approach to modelling of electrically stimulated skeletal muscle [PDF]

, 2001
This paper is concerned with the development and analysis of a nonlinear approach to modeling of the contraction of electrically stimulated skeletal muscle.
Jarvis, JC, Murray-Smith, DJ, Henrik Gollee, Gollee, H., David J Murray-Smith, Murray-Smith, D.J., Jarvis, J.C., Gollee, H, Jonathan C Jarvis   +8 more
core  

Accumulation of muscle ankyrin repeat protein transcript reveals local activation of primary myotube endcompartments during muscle morphogenesis [PDF]

, 1997
The characteristic shapes and positions of each individual body muscle are established during the process of muscle morphogenesis in response to patterning information from the surrounding mesenchyme. Throughout muscle morphogenesis, primary myotubes are
Arber, S., Baumeister, A., Pico Caroni, Caroni, P., Anja Baumeister, Silvia Arber   +5 more
core   +1 more source