Results 71 to 80 of about 342,419 (394)

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

Depletion of skeletal muscle satellite cells attenuates pathology in muscular dystrophy

Nature Communications, 2022
Boyer et al. created genetic mouse models of muscular dystrophy in which satellite cells were selectively depleted. The depletion of satellite cells at select times was protective.
Justin G. Boyer, Jiuzhou Huo, Sarah Han, Julian R. Havens, Vikram Prasad, Brian L. Lin, David A. Kass, Taejeong Song, Sakthivel Sadayappan, Ramzi J. Khairallah, Christopher W. Ward, Jeffery D. Molkentin   +11 more
doaj   +1 more source

Cardiomyopathy in muscular dystrophy [PDF]

QJM: An International Journal of Medicine, 2017
none
Indorkar, R, Al-Yafi, M, Romano, S, Levin, B R, Farzaneh-Far, A   +4 more
openaire   +4 more sources

Versatile Cell Penetrating Peptide for Multimodal CRISPR Gene Editing in Primary Stem Cells

Advanced Functional Materials, EarlyView.
CRISPR machinery in diverse molecular formats (DNA, RNA, and ribonucleic protein) is complexed into nanoparticles with the cell‐friendly arginine‐alanine‐leucine‐alanine (RALA) cell‐penetrating peptide. Nanoparticles are delivered to primary mesenchymal stem cells ex vivo or locally in vivo to facilitate multimodal CRISPR gene editing. This RALA‐CRISPR
Joshua P. Graham, Jose Gabriel Castro, Lisette C. Werba, Joseph Amitrano, Luke Fardone, Kevin P. Francis, Anand Ramamurthi, Michael J. Layden, Helen O. McCarthy, Tomas Gonzalez‐Fernandez   +9 more
wiley   +1 more source

MicroRNA-222 regulates muscle alternative splicing through Rbm24 during differentiation of skeletal muscle cells [PDF]

, 2016
A number of microRNAs have been shown to regulate skeletal muscle development and differentiation. MicroRNA-222 is downregulated during myogenic differentiation and its overexpression leads to alteration of muscle differentiation process and specialized ...
Cappella, Marisa, Cardinali, B., Cittaro, D., Falcone, G., Garcia Manteiga, J. M., Lazarevic, D., Martelli, F, Provenzano, C.   +7 more
core   +2 more sources

Facioscapulohumeral Muscular Dystrophy

Continuum, 2022
This article reviews the current knowledge on the clinical characteristics and disease mechanism of facioscapulohumeral muscular dystrophy (FSHD), as well as advances in targeted therapy development.FSHD has a wide range of severity, yet a distinct phenotype characterized by weakness of the facial, shoulder, and upper arm muscles, followed by weakness ...
Mul, K., Mul, K.
openaire   +3 more sources

Biosupercapacitors for Human‐Powered Electronics

Advanced Functional Materials, EarlyView.
Biosupercapacitors are emerging as biocompatible and integrative energy systems for next‐generation bioelectronics, offering rapid charge–discharge performance and mechanical adaptability. This review systematically categorizes their applications from external to organ‐level systems and highlights their multifunctional roles in sensing, actuation, and ...
Suhyeon Kim, Seungho Baek, Woojung Jung, Hayeon Bae, Junyoung Mun, Yong Ho Kim, Sunkook Kim, Jung Ho Kim   +7 more
wiley   +1 more source

Advances in imaging of brain abnormalities in neuromuscular disease

Therapeutic Advances in Neurological Disorders, 2019
Brain atrophy, white matter abnormalities, and ventricular enlargement have been described in different neuromuscular diseases (NMDs). We aimed to provide a comprehensive overview of the substantial advancement of brain imaging in neuromuscular diseases ...
Corrado Angelini, Elena Pinzan
doaj   +1 more source

Cell Surface Thiol Engineering Mechanoregulates Myogenic Differentiation via the FAK–PI3K–AKT Axis

Advanced Healthcare Materials, EarlyView.
Schematic diagram illustrating how cell surface modification of skeletal muscle progenitor cells through TCEP treatment reveals enhanced cell adhesion, intracellular tension, and myogenesis at 19.66 kPa stiffness, leading to optimal cell fusion. In contrast, no significant changes are observed in the softer (10.61 kPa) or stiffer (49.4 kPa) matrices ...
Juyeon Kim, Sung Sik Hur, Jae Hong Park, Myung Jin Ban, Jin‐Young Kim, Joo Hyun Kim, Ji Hyae Choo, Hae‐Won Kim, Ju Hun Lee, Man Ryul Lee, Yongsung Hwang   +10 more
wiley   +1 more source

LMNA‐related muscular dystrophy presenting as an inflammatory myopathy

Annals of the Child Neurology Society
Introduction There are overlapping features between inflammatory myopathies and muscular dystrophies, particularly laminopathies. Key features that characterize laminopathies include axial and proximal weakness, contractures, and cardiac abnormalities ...
Alexandra Santana Almansa, Stephen M. Chrzanowski, Farrah Rajabi, Megan Day‐Lewis, Pui Y. Lee, Hart G. W. Lidov, Laura L. Lehman, Leslie H. Hayes   +7 more
doaj   +1 more source