Results 61 to 70 of about 73,071 (237)

Gene editing restores dystrophin expression in a canine model of Duchenne muscular dystrophy [PDF]

, 2018
Mutations in the gene encoding dystrophin, a protein that maintains muscle integrity and function, cause Duchenne muscular dystrophy (DMD). The deltaE50-MD dog model of DMD harbors a mutation corresponding to a mutational “hotspot” in the human DMD gene.
Amoasii, L, Bassel-Duby, R, Caballero, D, Harron, R, Hildyard, J C W, Li, H, Massey, C A, Mireault, A, Olson, E N, Piercy, R J, Sanchez-Ortiz, E, Shelton, J M, Stathopoulou, T-R   +12 more
core   +2 more sources

Improving translational studies: lessons from rare neuromuscular diseases [PDF]

, 2015
Animal models play a key role in the development of novel treatments for human disease. This is particularly true for rare diseases – defined as disorders that affect less than 1 in 2000 people in the human population – for which, very often, there are ...
Wells, D J
core   +3 more sources

Fhod3 in zebrafish supports myofibril stability during growth of embryonic skeletal muscle

Developmental Dynamics, EarlyView.
Abstract Background Actin filament organization in cardiomyocytes critically depends on the formin Fhod3, but a role for Fhod3 in skeletal muscle development has not yet been described. Results We demonstrate here that in zebrafish mutated for one of two fhod3 paralog genes, fhod3a, skeletal muscle of the trunk appears normal through 2 days post ...
Aubrie Russell, Tracy Eng, Jeffrey D. Amack, David Pruyne   +3 more
wiley   +1 more source

Subjects with hip osteoarthritis show distinctive patterns of trunk movements during gait-a body-fixed-sensor based analysis

Journal of NeuroEngineering and Rehabilitation, 2012
Background Compensatory trunk movements during gait, such as a Duchenne limp, are observed frequently in subjects with osteoarthritis of the hip, yet angular trunk movements are seldom included in clinical gait assessments.
Reininga Inge HF, Stevens Martin, Wagenmakers Robert, Bulstra Sjoerd K, Groothoff Johan W, Zijlstra Wiebren   +5 more
doaj   +1 more source

Functional characterization of orbicularis oculi and extraocular muscles [PDF]

, 2016
The orbicularis oculi are the sphincter muscles of the eyelids and are involved in modulating facial expression. They differ from both limb and extraocular muscles (EOMs) in their histology and biochemistry. Weakness of the orbicularis oculi muscles is a
Goldblum, David, Palmowski-Wolfe, Anja, Sekulic-Jablanovic, Marijana, Treves, Susan, Ullrich, Nina D., Zorzato, Francesco   +5 more
core   +2 more sources

High‐Adhesion Quadruple Hydrogen‐Bonded Ionogels: A Dual‐Function Platform for Gesture Recognition and Real‐Time NH3 Detection in Multiscenario

ENERGY &ENVIRONMENTAL MATERIALS, EarlyView.
Quadruple hydrogen‐bonded high‐adhesion ionogels for gesture recognition and real‐time NH3 sensing. Ionogels have garnered significant attention in flexible sensing due to their outstanding mechanical properties, conductivity, and stability. However, establishing a robust and stable adhesive interface with various substrates remains a significant ...
Haohao Lin, Xiaotong Ma, Zihao Chen, Long Yang, Zitong Kan, Ruochen An, Lin Xu, Zhiyong Chang   +7 more
wiley   +1 more source

Is cardiac autonomic modulation influenced by beta blockers in adolescents with Duchenne Muscular Dystrophy?

Translational Exercise Biomedicine
As the Duchenne Muscular Dystrophy (DMD) is a progressive neuromuscular disorder frequently associated with cardiac dysfunction, this study aimed to evaluate the influence of beta-blocker therapy on cardiac autonomic modulation in adolescents with DMD by
Silva-Magalhães Talita Dias da, Moraes Íbis Ariana Peña de, Vanderlei Luiz Carlos Marques, Monteiro Carlos Bandeira de Mello, Silva Marcela Maria Carvalho da, Pereira Fernando, Dias Rodrigo Martins, Garner David, Grossklauss Luis Fernando, Dias de Carvalho Tatiana, Ferreira Celso   +10 more
doaj   +1 more source

A Roadmap to Newborn Screening for Duchenne Muscular Dystrophy

International Journal of Neonatal Screening, 2017
Duchenne muscular dystrophy (DMD) is the most common childhood form of muscular dystrophy, with an estimated frequency of 1:5000 live births. The impact of the disease presents as early as infancy with significant developmental delays, and ultimately ...
Samiah A. Al-Zaidy, Michele Lloyd-Puryear, Annie Kennedy, Veronica Lopez, Jerry R. Mendell   +4 more
doaj   +1 more source

Mutation type‐specific transcriptomic signatures and readthrough therapy rescue in SMC1A‐related developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to investigate the molecular consequences of pathogenic variants in the SMC1A gene—particularly those associated with developmental and epileptic encephalopathy (DEE85)—and to evaluate the therapeutic potential of ataluren in restoring SMC1A function and mitigating disease‐related transcriptomic and genomic ...
Maddalena Di Nardo, Francesca Sardina, Maria M. Pallotta, Iñigo Marcos‐Alcalde, Paulino Gómez‐Puertas, Cinzia Rinaldo, Ian D. Krantz, Antonio Musio   +7 more
wiley   +1 more source

CRISPR/Cas9‐mediated genome editing: from basic research to translational medicine [PDF]

, 2020
The recent development of the CRISPR/Cas9 system as an efficient and accessible programmable genome-editing tool has revolutionized basic science research. CRISPR/Cas9 system-based technologies have armed researchers with new powerful tools to unveil the
Ferreira, B I, Jacinto, Filipe, Link, Wolfgang   +2 more
core   +1 more source