Results 51 to 60 of about 75,574 (228)

Quantitative MRI Findings and Their Relationship to Muscle Histopathology and Ambulatory Clinical Function in Duchenne Muscular Dystrophy. [PDF]

J Cachexia Sarcopenia Muscle
ABSTRACT Background Iterative decomposition of water and fat with echo asymmetry and least‐squares estimation quantitation (IDEAL‐IQ), a quantitative 6‐point Dixon magnetic resonance imaging (MRI) sequence, has been increasingly used for quantifying muscle fat fraction (FF) in neuromuscular disorders.
Lu Y, Yin L, Liu C, Yuan Q, Xie Z, Liao J, Chen S, Gang Q, Zhao Y, Meng L, Zhang W, Xiao J, Wang Z, Yuan Y, Xie Z.   +14 more
europepmc   +2 more sources

Dual‐Functional Polyphosphoesters for Gene Delivery: Synergistic Effects of Guanidinium and Hydrophobic Side Chains in Degradable Polymers

Advanced Healthcare Materials, EarlyView.
This study presents guanidinium‐ and indole‐functionalized polyphosphoesters as degradable, non‐viral gene delivery vectors. Through precise tuning of charge density and hydrophobicity, these polymers form stable polyplexes with low toxicity. Remarkably, minor structural changes yield up to 200‐fold differences in transfection efficiency, highlighting ...
Markus Kötzsche, Andreas Dzierza, Jan Egger, Timo Rheinberger, Christin Weilandt, Frederik R. Wurm, Ivo Nischang, Dagmar Fischer, Kalina Peneva   +8 more
wiley   +1 more source

Noninvasive ventilatory support to reverse weight loss in Duchenne muscular dystrophy: A case series

Pulmonology, 2019
This case series of five patients with Duchenne muscular dystrophy demonstrates the nutritional advantages of instituting noninvasive intermittent positive pressure ventilatory support via 15 mm angled mouthpieces to relieve tachypnea and provide more ...
P. Deo, J.R. Bach
doaj   +1 more source

RUNX2 Activation in Fibro/Adipogenic Progenitors Promotes Muscle Fibrosis in Muscular Dystrophy

Advanced Science, EarlyView.
This study revealed a novel role of the chemokine‐TGF‐β1‐RUNX2 axis in determining the fate of FAP differentiation and modulating muscle fibrosis in patients and mice with muscular dystrophies. ABSTRACT Clinical evidence indicates concurrent muscle inflammation and fibrosis in muscular dystrophies (MDs); however, the molecular mechanisms underlying ...
Pengkai Wu, Zehua Zhang, Kai Zheng, Ziqi Zhu, Yong Zhu, Abdukahar Kiram, Lei Zhao, Huihui Chen, Zhu Xu, Xihua Li, Beicheng Sun, Zhijian Li, Dengqiu Xu   +12 more
wiley   +1 more source

The Evolutionarily Conserved TPM1 Super‐Enhancer Drives Skeletal Muscle Regeneration via Mechanotransduction Signaling

Advanced Science, EarlyView.
By integrating biomechanical and epigenetic cues, the evolutionarily conserved TPM1 super‐enhancer drives myogenesis via TEAD4‐mediated chromatin looping. This mechanism produces species‐specific outputs (linear TPM1 mRNA in mice and CircTPM1 in bovine) that activate PI3K/AKT mechanotransduction and the MYH10/MYL3 axis to execute cytoskeletal ...
Ruimen Zhang, Wanyou Feng, Yanyan Yang, Yu Pan, Chaoxia Zou, Leyi Wang, Sanbao Zhang, Yimin Zhao, Yongmei Wu, Jinling Wang, Jianwei Zou, Kehe Cen, Yongwang Zhang, Han Huang, Yurong Xu, Li Zhong, Hailong Gong, Juanru Cheng, Jingyuan Liang, Zihua Zheng, Qinyang Jiang, Jingwei Wei, Hui Li, Minhui Liang, Deshun Shi, Sufang Yang, Yanfei Deng, Yingming Wei   +27 more
wiley   +1 more source

Preimplantation genetic diagnosis associated to Duchenne muscular dystrophy

Einstein (São Paulo)
Duchenne muscular dystrophy is the most common muscle disease found in male children. Currently, there is no effective therapy available for Duchenne muscular dystrophy patients. Therefore, it is essential to make a prenatal diagnosis and provide genetic
Bianca Bianco, Denise Maria Christofolini, Gabriel Seixas Conceição, Caio Parente Barbosa   +3 more
doaj   +1 more source

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

Science, 2018
Gene editing and muscular dystrophy Duchenne muscular dystrophy (DMD) is characterized by progressive muscle weakness and a shortened life span. The disease is caused by mutations that reduce or prevent expression of dystrophin, an essential structural ...
L. Amoasii, J. Hildyard, Hui Li, E. Sánchez-Ortiz, A. Mireault, Daniel Caballero, R. Harron, T. Stathopoulou, C. Massey, J. Shelton, R. Bassel-Duby, R. Piercy, E. Olson   +12 more
semanticscholar   +1 more source

Safety, Tolerability, and Efficacy of Viltolarsen in Boys With Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping

JAMA Neurology, 2020
Key Points Question What are the safety, tolerability, and efficacy of viltolarsen in boys with Duchenne muscular dystrophy (DMD) amenable to exon 53 skipping?
P. Clemens, V. Rao, A. Connolly, A. Harper, J. Mah, E. Smith, C. McDonald, C. Zaidman, L. Morgenroth, H. Osaki, Y. Satou, T. Yamashita, E. Hoffman   +12 more
semanticscholar   +1 more source

HMGB2–RAD21 Axis Promotes Fibro/Adipogenic Progenitor Proliferation and Regulates Fat Infiltration

Advanced Science, EarlyView.
This study constructed the first developmental atlas of embryonic skeletal muscle fibro/adipogenic progenitors (FAPs) and identified an HMGB2+ FAPs subpopulation that regulates FAP pool size and muscle homeostasis. HMGB2 directly targets the RAD21 promoter, and its knockout significantly reduces FAP numbers, thereby lowering the potential for ...
Xian Tong, Ziyun Liang, Tianqi Duo, Liping Pan, Qi Zhu, Jiete Liang, Xianyao Luo, Qingcai Feng, Rong Xu, Yihao Liu, Xu Chen, Luxi Chen, Xiaohong Liu, Yaosheng Chen, Delin Mo   +14 more
wiley   +1 more source

Connexin43 Deficiency Leads to Ventricular Arrhythmias by Reprogramming Proline Metabolism

Advanced Science, EarlyView.
The study demonstrated that connexin43 (Cx43) knockout caused arrhythmic phenotype and decreased proline content in vitro and in vivo. Mechanistically, Cx43 interacts with the amino acid transporter SNAT2 (sodium‐dependent neutral amino acid transporter), and its deficiency disrupts proline transport and metabolism.
Hangying Ying, Hangping Fan, Yunhe Wang, Ruhong Jiang, Dongsheng Cai, Hui Cheng, Hao Wang, Chenyang Jiang, Ping Liang   +8 more
wiley   +1 more source