Results 81 to 90 of about 59,671 (341)

Genetic diagnosis as a tool for personalized treatment of Duchenne muscular dystrophy [PDF]

, 2016
Accurate definition of genetic mutations causing Duchenne muscular dystrophy (DMD) has always been relevant in order to provide genetic counseling to patients and families, and helps to establish the prognosis in the case where the distinction between ...
Bello, Luca, Pegoraro, Elena
core  

Bioorthogonal Engineering of Cellular Microenvironments Using Isonitrile Ligations

Advanced Functional Materials, EarlyView.
Highly selective chemistries are required for fabrication and post‐cross–linking modification of cell‐encapsulating hydrogels used in tissue engineering applications. Isonitrile ligation reactions represent a promising class of bioorthogonal chemistries for engineering hydrogel‐based cellular microenvironments. Isonitrile‐based hydrogels are stable and
Ping Zhou, Lauren Brown, Christopher M. Madl   +2 more
wiley   +1 more source

CRISPR/Cas9‐Based Dystrophin Restoration Reveals a Novel Role for Dystrophin in Bioenergetics and Stress Resistance of Muscle Progenitors

Stem Cells, 2019
Although the lack of dystrophin expression in muscle myofibers is the central cause of Duchenne muscular dystrophy (DMD), accumulating evidence suggests that DMD may also be a stem cell disease.
Polina R Matre, Xiaodong Mu, Jianbo Wu, Delia Danila, Mary A. Hall, M. Kolonin, Radbod Darabi, J. Huard   +7 more
semanticscholar   +1 more source

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

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

A nitric oxide synthase transgene ameliorates muscular dystrophy in mdx mice. [PDF]

, 2001
Dystrophin-deficient muscles experience large reductions in expression of nitric oxide synthase (NOS), which suggests that NO deficiency may influence the dystrophic pathology.
Spencer, MJ, Tidball, JG, Wehling, M
core  

Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database

Orphanet Journal of Rare Diseases, 2012
Background Dystrophin is a large essential protein of skeletal and heart muscle. It is a filamentous scaffolding protein with numerous binding domains. Mutations in the DMD gene, which encodes dystrophin, mostly result in the deletion of one or several ...
Nicolas Aurélie, Lucchetti-Miganeh Céline, Yaou Rabah, Kaplan Jean-Claude, Chelly Jamel, Leturcq France, Barloy-Hubler Frédérique, Le Rumeur Elisabeth   +7 more
doaj   +1 more source

The potential of utrophin and dystrophin combination therapies for Duchenne muscular dystrophy

Human Molecular Genetics, 2019
Duchenne muscular dystrophy (DMD) is a lethal neuromuscular disorder caused by loss of dystrophin. Several therapeutic modalities are currently in clinical trials but none will achieve maximum functional rescue and full disease correction.
S. Guiraud, B. Edwards, A. Babbs, S. Squire, A. Berg, L. Moir, M. Wood, K. Davies   +7 more
semanticscholar   +1 more source

Potentiating Cerebral Perfusion Normalizes Glymphatic Dynamics in Systemic Inflammation

Advanced Science, EarlyView.
LPS‐induced systemic inflammation increases glymphatic influx but delays cervical lymphatic drainage, accompanied by AQP4 depolarization and impaired glymphatic clearance. Enhancing cerebral blood flow via the inotropic agent levosimendan effectively restored AQP4 polarization, improving glymphatic flux and amyloid‐β clearance.
Ruoyu Zhao, Bin Sun, Pengju Wei, Yingying Sun, Qianyan He, Kejia Zhang, Jun Lu, Shoujun Zhu, Yi Yang, Zhenni Guo   +9 more
wiley   +1 more source

A novel high-throughput immunofluorescence analysis method for quantifying dystrophin intensity in entire transverse sections of Duchenne muscular dystrophy muscle biopsy samples. [PDF]

PLoS ONE, 2018
Clinical trials using strategies aimed at inducing dystrophin expression in Duchenne muscular dystrophy (DMD) are underway or at advanced planning stage, including splice switching antisense oligonucleotides (AON), drugs to induce read-through of ...
Valentina Sardone, Matthew Ellis, Silvia Torelli, Lucy Feng, Darren Chambers, Deborah Eastwood, Caroline Sewry, Rahul Phadke, Jennifer E Morgan, Francesco Muntoni   +9 more
doaj   +1 more source