Results 51 to 60 of about 59,298 (301)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Light‐Assisted 3D Printing Techniques and Photocrosslinking Strategies: Recent Advances in Musculoskeletal Tissue Engineering

Advanced Engineering Materials, EarlyView.
In this review, the current state of light‐assisted 3D printing as it pertains to engineering musculoskeletal tissues including bone, cartilage, skeletal muscle, tendon, and ligaments is summarized. Common printing techniques, photoreactive materials, and study design choices are compiled and reviewed.
Meagan Morgan, Bin Zhang, Roger Narayan
wiley   +1 more source

Electrocapillary Modulated Interfacial Tension Amplifies Liquid Metal Transduction

Advanced Functional Materials, EarlyView.
This study presented an electrocapillary‐enhanced magnetohydrodynamic pumping strategy that harnesses the Lorentz force and interfacial tension modulation of liquid metal droplets to achieve amplified fluidic power. The system enabled low‐voltage, self‐oscillating fluidic transduction with enhanced pressure and flow generation, supporting compact ...
Saba Firouznia, Ciqun Xu, Michael D. Dickey, Jonathan Rossiter   +3 more
wiley   +1 more source

The role of transmembrane agrin in reorganizing the cytoskeleton in neurons and non-neuronal cells [PDF]

, 2006
The brain belongs to the most fascinating organs that developed in evolution. Its complexity is responsible for recording and organizing impressions from the environment, for our thoughts and feelings, for our personality.
Bittcher, Godela
core   +1 more source

Mechanically Spatio‐Chimeric Fibrin Assembly Enables Vascular‐Integrated Muscle Reconstruction for Volumetric Muscle Loss Repair

Advanced Materials, EarlyView.
SPARC (spatio‐chimeric, plasma‐based, anisotropic, and shear‐responsive construct) that integrates myogenic and vascular microenvironments within a single construct. The dual‐modulus matrix directs aligned myotube formation and endothelial network development, enabling a vascularized muscle implant that seamlessly anastomoses with host tissue and ...
Su Hyun Jung, Minjun Kim, Da‐Yoon Kim, Min Kyu Kim, Sieun Lee, Yoonhee Jin, Joo H. Kang   +6 more
wiley   +1 more source

Clinical and functional studies of autoimmune disorders of neuromuscular transmission [PDF]

, 2015
Inherited and acquired disorders of the neuromuscular junction are an important cause of muscle weakness and fatigability. In this thesis I focus on the autoimmune disorders of neuromuscular transmission.
Spillane, J
core  

Neuromuscular synaptic transmission in aged ganglioside-deficient mice [PDF]

, 2011
Gangliosides are sialylated glycosphingolipids that are present in high density on neuronal membranes, especially at synapses, where they are assumed to play functional or modulating roles.
Todorov, Boyan, Furukawa, Keiko, Furukawa, K., Plomp, J.J., Verschuuren, Jan J., Willison, H.J., Furukawa, Koichi, Plomp, Jaap J., Jacobs, B.C., Todorov, B., Willison, Hugh J., Jacobs, Bart C., Zitman, F.M.P., Verschuuren, J.J., Zitman, Femke M.P.   +14 more
core   +1 more source

The p75NTR neurotrophin receptor is required to organize the mature neuromuscular synapse by regulating synaptic vesicle availability

Acta Neuropathologica Communications, 2019
The coordinated movement of organisms relies on efficient nerve-muscle communication at the neuromuscular junction. After peripheral nerve injury or neurodegeneration, motor neurons and Schwann cells increase the expression of the p75NTR pan-neurotrophin
Viviana Pérez, Francisca Bermedo-Garcia, Diego Zelada, Felipe A. Court, Miguel Ángel Pérez, Marco Fuenzalida, Johanna Ábrigo, Claudio Cabello-Verrugio, Guillermo Moya-Alvarado, Juan Carlos Tapia, Vicente Valenzuela, Claudio Hetz, Francisca C. Bronfman, Juan Pablo Henríquez   +13 more
doaj   +1 more source

Soft Actuators Integrated with Control and Power Units: Approaching Wireless Autonomous Soft Robots

Advanced Robotics Research, EarlyView.
Soft robots exhibit significant development potential in various applications. However, there are still key technical challenges regarding material improvement, structure design and components integration. This review focuses on the development and challenge of soft actuators, power components, and control components in untethered intelligent soft ...
Renwu Shi, Feifei Pan, Xiaobin Ji
wiley   +1 more source

Mutations in the mitochondrial citrate carrier SLC25A1 are associated with impaired neuromuscular transmission. [PDF]

, 2014
Background and Objective: Congenital myasthenic syndromes are rare inherited disorders characterized by fatigable weakness caused by malfunction of the neuromuscular junction.
Chaouch A, Müller JS, Huebner A, PALMIERI, Luigi, Porcelli V, SCARCIA, PASQUALE, Griffin H, Edvardson S, Beeson D, PIERRI, CIRO LEONARDO, Straub V, Cossins J, Töpfa A, Bushby K, Elpeleg O, Abicht A, Senderek J, DE GRASSI, ANNA, Horvath R, Lochmüller H., Laval SH, Cox D, von der Hagen M, Palace J, Evangelista T   +24 more
core   +1 more source