Results 61 to 70 of about 182,997 (357)

Facioscapulohumeral Muscular Dystrophy

Continuum, 2022
This article reviews the current knowledge on the clinical characteristics and disease mechanism of facioscapulohumeral muscular dystrophy (FSHD), as well as advances in targeted therapy development.FSHD has a wide range of severity, yet a distinct phenotype characterized by weakness of the facial, shoulder, and upper arm muscles, followed by weakness ...
Mul, K., Mul, K.
openaire   +3 more sources

Biosupercapacitors for Human‐Powered Electronics

Advanced Functional Materials, EarlyView.
Biosupercapacitors are emerging as biocompatible and integrative energy systems for next‐generation bioelectronics, offering rapid charge–discharge performance and mechanical adaptability. This review systematically categorizes their applications from external to organ‐level systems and highlights their multifunctional roles in sensing, actuation, and ...
Suhyeon Kim, Seungho Baek, Woojung Jung, Hayeon Bae, Junyoung Mun, Yong Ho Kim, Sunkook Kim, Jung Ho Kim   +7 more
wiley   +1 more source

Functional rescue of dystrophin deficiency in mice caused by frameshift mutations using Campylobacter jejuni Cas9 [PDF]

, 2018
Duchenne muscular dystrophy (DMD) is a fatal, X-linked muscle wasting disease caused by mutations in the DMD gene. In 51% of DMD cases, a reading frame is disrupted because of deletion of several exons.
Cappellari, O, Cho, H-Y, Dickson, G, Kim, D, Kim, E, Kim, J-S, Koo, T, Lu-Nguyen, N B, Malerba, A, Popplewell, L   +9 more
core   +2 more sources

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

Priorities when deciding on participation in early-phase gene therapy trials for Duchenne muscular dystrophy: a best–worst scaling experiment in caregivers and adult patients

Orphanet Journal of Rare Diseases, 2019
Purpose Several gene therapy trials for Duchenne muscular dystrophy initiated in 2018. Trial decision making is complicated by non-curative, time-limited benefits; the progressive, fatal course; and high unmet needs.
Ryan S. Paquin, Ryan Fischer, Carol Mansfield, Brennan Mange, Katherine Beaverson, Annie Ganot, Amy Strong Martin, Carl Morris, Colin Rensch, Valeria Ricotti, Leo J. Russo, Alesia Sadosky, Edward C. Smith, Holly L. Peay   +13 more
doaj   +1 more source

Opposing gene regulatory programs governing myofiber development and maturation revealed at single nucleus resolution

Nature Communications, 2023
Skeletal muscle fibers express distinct gene programs during development and maturation, but the underlying gene regulatory networks that confer stage-specific myofiber properties remain unknown.
Matthieu Dos Santos, Akansha M. Shah, Yichi Zhang, Svetlana Bezprozvannaya, Kenian Chen, Lin Xu, Weichun Lin, John R. McAnally, Rhonda Bassel-Duby, Ning Liu, Eric N. Olson   +10 more
doaj   +1 more source

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  

The 6-minute walk test and other endpoints in Duchenne muscular dystrophy: longitudinal natural history observations over 48 weeks from a multicenter study. [PDF]

, 2013
IntroductionDuchenne muscular dystrophy (DMD) subjects ≥5 years with nonsense mutations were followed for 48 weeks in a multicenter, randomized, double-blind, placebo-controlled trial of ataluren.
Abresch, R Ted, Barth, Jay, Eagle, Michelle, Elfring, Gary, Florence, Julaine M, Gappmaier, Eduard, Glanzman, Allan M, Henricson, Erik K, McDonald, Craig M, Peltz, Stuart, PTC124-GD-007-DMD Study Group, Reha, Allen, Spiegel, Robert   +12 more
core   +2 more sources

Facioscapulohumeral muscular dystrophy

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2015
Facioscapulohumeral muscular dystrophy (FSHD) is characterized by a typical and asymmetric pattern of muscle involvement and disease progression. Two forms of FSHD, FSHD1 and FSHD2, have been identified displaying identical clinical phenotype but different genetic and epigenetic basis.
Sacconi, Sabrina, SALVIATI, LEONARDO, Desnuelle, Claude   +2 more
openaire   +5 more sources

Progressive Insights into 3D Bioprinting for Corneal Tissue Restoration

Advanced Healthcare Materials, EarlyView.
This review explores the potential of 3D bioprinting to replicate the complex structure and function of the human cornea. It highlights key advances in bioink development, printing modalities, and in vivo performance, while addressing current challenges and emerging strategies. The review emphasizes bioprinting's promise to overcome donor shortages and
Ilayda Namli, Deepak Gupta, Yogendra Pratap Singh, Pallab Datta, Muhammad Rizwan, Mehmet Baykara, Ibrahim T. Ozbolat   +6 more
wiley   +1 more source