Results 71 to 80 of about 55,853 (286)

Review: Dystroglycan in the Nervous System [PDF]

, 2007
Dystroglycan is part of a large complex of proteins, the dystrophin-glycoprotein complex, which has been implicated in the pathogenesis of muscular dystrophies for a long time.
Matthias Samwald
core   +2 more sources

Multi‐Tissue Omics Analysis Uncovers Translational Regulation Underlying Complex Traits in Pigs

Advanced Science, EarlyView.
Integrated multi‐omics across pig breeds and tissues reveals key principles of post‐transcriptional translational regulation and their contribution to trait formation. A gene network framework integrating transcriptomic and translatomic data is developed and applied to elucidate the genetic basis of meat production, offering new insights into mammalian
Chao Wang, Yuanyuan Zhang, Choulin Chen, Xiaoxian Xu, Shenghua Qin, Junyan Qi, Yongzhou Bao, Huiming Li, Ruipu Chen, Weigang Zheng, Zhilong Chen, Lingzhao Fang, Yunxiang Zhao, Yuwen Liu   +13 more
wiley   +1 more source

Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden, Katlyn E. McGrattan, Peter B. Kang   +2 more
wiley   +1 more source

Trendelenburg-Like Gait, Instability and Altered Step Patterns in a Mouse Model for Limb Girdle Muscular Dystrophy 2i. [PDF]

PLoS ONE, 2016
Limb-girdle muscular dystrophy type 2i (LGMD2i) affects thousands of lives with shortened life expectancy mainly due to cardiac and respiratory problems and difficulty with ambulation significantly compromising quality of life. Limited studies have noted
Joseph W Maricelli, Qi L Lu, David C Lin, Buel D Rodgers   +3 more
doaj   +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

Metformin enhances external urethral sphincter integrity and restores continence via AMPK activation in a rat model of stress urinary incontinence

Animal Models and Experimental Medicine, EarlyView.
The pathogenesis of stress urinary incontinence (SUI) is intimately associated with injury to the external urethral sphincter (EUS). In this study, we established an SUI model induced by double vaginal distension and demonstrated that metformin treatment activated the AMPK signaling in the EUS tissue.
Yuting Xu, Xuhong Li, Alvaro Munoz, Li Jiang, Lihua Huang, Yanhua Zhou, Liping Zhu, Youbo Yang   +7 more
wiley   +1 more source

Cytoplasmic γ-actin expression in diverse animal models of muscular dystrophy [PDF]

Neuromuscular Disorders, 2007
We recently showed that cytoplasmic gamma-actin (gamma(cyto)-actin) is dramatically elevated in striated muscle of dystrophin-deficient mdx mice. Here, we demonstrate that gamma(cyto)-actin is markedly increased in golden retriever muscular dystrophy (GRMD), which better recapitulates the dystrophinopathy phenotype in humans. Gamma(cyto)-Actin was also
Hanft, Laurin M., Bogan, Daniel J., Mayer, Ulrike, Kaufman, Stephen J., Kornegay, Joe N., Ervasti, James M.   +5 more
openaire   +3 more sources

Effects of oropharyngeal neuromuscular stimulation on the volumetric enlarged and reduced tongue base in minipigs

The Anatomical Record, EarlyView.
Abstract Hypoglossal nerve or tongue protruding muscle stimulation is a current treatment option for obstructive sleep apnea. Thus, the present study analyzed 3D deformations of the volumetric enlarged and reduced tongue base upon oropharyngeal neuromuscular stimulation.
Sydney Chen, Doris Haydee Rosero Salazar, Zi‐Jun Liu   +2 more
wiley   +1 more source

Adaptive Machine Learning Framework for Optimizing the Affinity Purification of Adeno‐Associated Viral Vectors

Biotechnology and Bioengineering, EarlyView.
ABSTRACT Adeno‐associated viral (AAV) vectors for gene therapy are becoming integral to modern medicine, providing therapeutic options for diseases once deemed incurable. Currently, viral vector purification is a critical bottleneck in the gene therapy industry, impacting product efficacy and safety as well as accessibility and cost to patients ...
Kelvin P. Idanwekhai, Shriarjun Shastry, Morgan R. Hurst, Arianna Minzoni, Eduardo Barbieri, Luke Remmler, Eugene N. Muratov, Michael A. Daniele, Stefano Menegatti, Alexander Tropsha   +9 more
wiley   +1 more source

Evaluation of the redox alteration in Duchenne muscular dystrophy model mice using in vivo DNP-MRI

npj Imaging
Duchenne muscular dystrophy (DMD) is a genetic muscular disease and is the most common type of muscular dystrophy in Japan. Noninvasive magnetic resonance imaging (MRI) can be used for follow-up evaluation of myositis and muscular dystrophy, including ...
Hinako Eto, Masaharu Murata, Takahito Kawano, Yoko Tachibana, Abdelazim Elsayed Elhelaly, Yoshifumi Noda, Hiroki Kato, Masayuki Matsuo, Fuminori Hyodo   +8 more
doaj   +1 more source