Results 81 to 90 of about 55,263 (257)

Therapeutic Gene Editing: DNA Repair Pathways, Emerging Editors, and Clinical Progress

iNew Medicine, EarlyView.
ABSTRACT The field of gene editing has evolved rapidly over the past decade, progressing from programmable zinc‐finger nucleases (ZFNs) and transcription activator‐like effector nucleases (TALENs) to the widespread adoption of CRISPR‐Cas systems. First‐generation editors catalyzed genome engineering by introducing targeted double‐strand breaks (DSBs ...
Li‐Kuang Tsai, Youcai Xiong, Dongqi Liu, Dongshan Yang, Jifeng Zhang, Jie Xu, Renzhi Han, Y. Eugene Chen   +7 more
wiley   +1 more source

Dominant lethal pathologies in male mice engineered to contain an X-linked DUX4 transgene [PDF]

, 2014
Facioscapulohumeral muscular dystrophy (FSHD) is an enigmatic disease associated with epigenetic alterations in the subtelomeric heterochromatin of the D4Z4 macrosatellite repeat.
Dandapat, Abhijit, Bosnakovski, Darko, Hartweck, Lynn M., Arpke, Robert, Baltgalvis, Kristen, Vang, Derek, Baik, June, Darabi, Radbod, Perlingeiro, Rita C. R., Hamra, Kent, Gupta, Kapil, Lowe, Dawn, Kyba, Michael   +12 more
core   +2 more sources

Comprehensive genetic analysis of facioscapulohumeral muscular dystrophy by Nanopore long-read whole-genome sequencing

Journal of Translational Medicine
Facioscapulohumeral muscular dystrophy (FSHD) is a high-prevalence autosomal dominant neuromuscular disease characterized by significant clinical and genetic heterogeneity.
Mingtao Huang, Qinxin Zhang, Jiao Jiao, Jianquan Shi, Yiyun Xu, Cuiping Zhang, Ran Zhou, Wenwen Liu, Yixuan Liang, Hao Chen, Yan Wang, Zhengfeng Xu, Ping Hu   +12 more
semanticscholar   +1 more source

Identification of candidate miRNA biomarkers for facioscapulohumeral muscular dystrophy using DUX4-based mouse models

Disease Models & Mechanisms, 2021
Facioscapulohumeral muscular dystrophy (FSHD) is caused by misexpression of DUX4 in skeletal myocytes. As DUX4 is the key therapeutic target in FSHD, surrogate biomarkers of DUX4 expression in skeletal muscle are critically needed for clinical trials ...
A. Nunes, Monique Ramirez, T. Jones, Peter L Jones   +3 more
semanticscholar   +1 more source

Myocellular adaptations to short‐term weighted wheel‐running exercise are largely conserved during C26‐tumour induction in male and female mice

Experimental Physiology, EarlyView.
Abstract This study investigated whether performing a translatable murine model of concurrent training after tumour induction affects adaptations in juvenile male and female tumour‐bearing mice. Male and female Balb/c mice were injected bilaterally with colon‐26 adenocarcinoma (C26) cells or PBS at 8 weeks of age.
Stavroula Tsitkanou, Pieter Koopmans, Calvin Peterson, Ana Regina Cabrera, Ruqaiza Muhyudin, Francielly Morena, Sabin Khadgi, Eleanor R. Schrems, Tyrone A. Washington, Kevin A. Murach, Nicholas P. Greene   +10 more
wiley   +1 more source

Muscle pathology from stochastic low level DUX4 expression in an FSHD mouse model

Nature Communications, 2017
Facioscapulohumeral muscular dystrophy is a severe myopathy that is caused by abnormal activation of DUX4, and for which a suitable mouse model does not exist.
Darko Bosnakovski, Sunny S. K. Chan, Olivia O. Recht, Lynn M. Hartweck, Collin J. Gustafson, Laura L. Athman, Dawn A. Lowe, Michael Kyba   +7 more
doaj   +1 more source

Assessment of the Use of Non-Pharmacological Methods for Managing Depression in Patients with Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD) [PDF]

, 2018
Background: Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are two types of muscular dystrophies with multi-system manifestations.
Miller, Kimberly, Parkhill, Amy L., Roberts, Mackenzie, Skalla, Deidre   +3 more
core   +1 more source

Longitudinal study of MRI and functional outcome measures in facioscapulohumeral muscular dystrophy

BMC Musculoskeletal Disorders, 2021
Background Facioscapulohumeral muscular dystrophy (FSHD) is a patchy and slowly progressive disease of skeletal muscle. For MRI to be a useful biomarker in an FSHD clinical trial, it should reliably detect changes over relatively short time-intervals ...
Leo H. Wang, D. Shaw, A. Faino, C. Budech, L. Lewis, J. Statland, K. Eichinger, S. Tapscott, R. Tawil, S. Friedman   +9 more
semanticscholar   +1 more source

Expanding the Differential Diagnosis of Ultrasonographic Flexor Digitorum Profundus–Flexor Carpi Ulnaris Dissociation of Echogenicity: Muscular Dystrophies

Muscle &Nerve, Volume 73, Issue 3, Page 485-489, March 2026.
ABSTRACT Introduction/Aims Dissociation of echogenicity of the flexor digitorum profundus (FDP) and flexor carpi ulnaris (FCU) on neuromuscular ultrasound has been reported to be a useful sign to differentiate inclusion body myositis (IBM) from more common disease mimics, but it is not clear that this finding is pathognomonic of IBM. Our study aimed to
Anson W. Wilks, Nizar Chahin
wiley   +1 more source

Oligonucleotide Therapies for Facioscapulohumeral Muscular Dystrophy: Current Preclinical Landscape

International Journal of Molecular Sciences
Facioscapulohumeral muscular dystrophy (FSHD) is an inherited myopathy, characterized by progressive and asymmetric muscle atrophy, primarily affecting muscles of the face, shoulder girdle, and upper arms before affecting muscles of the lower extremities
Samuel L. Beck, Toshifumi Yokota
semanticscholar   +1 more source