Results 41 to 50 of about 253,218 (253)

X-Linked Dilated Cardiomyopathy: A Cardiospecific Phenotype of Dystrophinopathy

Pharmaceuticals, 2015
X-linked dilated cardiomyopathy (XLDCM) is a distinct phenotype of dystrophinopathy characterized by preferential cardiac involvement without any overt skeletal myopathy.
Akinori Nakamura
doaj   +1 more source

Bottom‐Up Engineering of a Human Neuromuscular System for Modeling Activity‐Induced Remodeling, Metabolic Stress, and Endothelial‐Modulated Excitability

Advanced Materials, EarlyView.
Using a bottom‐up approach, we engineered a human neuromuscular microchip to investigate distinct adaptive responses to neural stimulation and metabolic stress. Further integration of endothelial cells revealed their critical role in modulating neuromuscular excitability, establishing a comprehensive neurovascular‐muscular model.
Jinchul Ahn, Min‐seop Kim, Ju‐Hee Kim, Seok‐Hyeon Kang, Dain Lee, Hui‐Wen Liu, Seung‐cheol Shin, Kyuhwan Na, Yesl Jun, Oak‐Kee Hong, Ji Hun Yang, Jin‐A Kim, Hwanseok Jang, Hong Nam Kim, Roger D. Kamm, Ji‐Hoon Kim, Jang‐Won Son, Seok Chung   +17 more
wiley   +1 more source

Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: Implication for clinical trials [PDF]

, 2010
Duchenne muscular dystrophy (DMD) is characterised by the absence of dystrophin in muscle biopsies, although residual dystrophin can be present, either as dystrophin-positive (revertant) fibres or traces.
Main, M, Morgan, JE, Straub, V, Feng, L, Sewry, CA, Muntoni, F, Lehovsky, J, Arechavala-Gomeza, V, Kinali, M, Hunt, D, Guglieri, M, Bushby, K, Edge, G   +12 more
core  

Intelligent Micro/Nanorobots for Targeted Interventional Therapy: From Bench to Clinic

Advanced Robotics Research, EarlyView.
Zirui Zhang et al. reviewed the application and challenges of mobile nanomachines in interventional therapy. By converting exogenous energy, including chemical, magnetic, optical, and ultrasonic sources, into mechanical forces, micro/nanorobots (MNRs) enable precise actuation at unprecedented scales. Evolving far beyond traditional drug delivery, these
Zirui Zhang, Yu Dong, Yongsheng Du, Rui Gao, Lin Zhang, Fei Tong   +5 more
wiley   +1 more source

Innate Immunocompetent hiPSC‐Derived Neurospheroids Capture Early CNS Responses to rAAV

Advanced Science, EarlyView.
Knowledge of human CNS immune responses to AAV‐based gene therapies remains limited due to the lack of immune‐competent human models. Here, a hiPSC‐derived 3D neuroimmune platform integrating neurospheroids and microglia is established using stirred‐tank bioreactors.
Catarina M. Gomes, Gabriela Silva, Mafalda Aleixo, Marta Gomes, Daniel Simão, Stephan J. Holtkamp, Diana D. Lobo, Pradeep Harish, Rosalind Jenkins, Lekh N. Dahal, Rui J. Nobre, Luís de Pereira de Almeida, Mark Trautwein, Paula M. Alves, Catarina Brito   +14 more
wiley   +1 more source

CRISPR and Gene Augmentation Rescue Trabecular Meshwork Dysfunction in iPSC Models of Lowe Syndrome

Advanced Science, EarlyView.
By modeling Lowe syndrome using patient‐derived iPSCs, this study establishes a human disease model that faithfully recapitulates OCRL deficiency‐associated ciliary and cytoskeletal defects. The model enables evaluation of both mutation‐agnostic DNA augmentation and CRISPR‐mediated mutation correction strategies, both of which restore OCRL function and
Siyu Chen, Zhiquan Liu, Wenmin Wang, Qing Wang, Tia J. Kowal, Fan Zhang, Grzegorz Walkiewicz, Faruk Hossen, Herbert M. Lachman, Jinqiong Zhou, Yiting Wang, Yang Sun   +11 more
wiley   +1 more source

Linker molecules between laminins and dystroglycan ameliorate laminin-alpha2-deficient muscular dystrophy at all disease stages [PDF]

, 2007
Mutations in laminin-alpha2 cause a severe congenital muscular dystrophy, called MDC1A. The two main receptors that interact with laminin-alpha2 are dystroglycan and alpha7beta1 integrin.
Ruegg, M. A., Patrizia Barzaghi, Lochmuller, H., Sarina Meinen, Markus A. Ruegg, Lin, S., Hanns Lochmüller, Shuo Lin, Barzaghi, P., Meinen, S.   +9 more
core   +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

Integrating Genetic Modifier Genotype With Serum Proteomics in Duchenne Muscular Dystrophy Clinical Trials Links LTBP4 Genetic Modifier to IL‐23/CD93 Pathways in Muscle

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic modifiers of Duchenne muscular dystrophy (DMD) that alter disease severity or response to therapy have been reported using natural history or registry data sets of older corticosteroid‐treated patients. We tested associations of genetic modifiers on motor function outcomes in young (4 to < 7 years) steroid naïve clinical trial ...
Utkarsh J. Dang, Yuan Fang, Daniele Sabbatini, Elena Pegoraro, Luca Bello, Paula R. Clemens, Michela Guglieri, John van den Anker, Jesse Damsker, Laura Hagerty, Yetrib Hathout, Michael Ziemba, Lauren Morgenroth, Surajit Bhattacharya, Kanneboyina Nagaraju, Jyoti K. Jaiswal, Eric P. Hoffman   +16 more
wiley   +1 more source

Arthrogryposis Multiplex Congenita in Pediatric Age: Correlation Between MUScular MRI and Functional Evaluation (AMUSE), Toward a Biomechanical Model

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) is a group of diseases with joint limitations at two or more distinct joint levels at birth. Joint limitations are not progressive, but the functional consequences have a lifelong impact on patients. The management of these conditions is therefore demanding, necessarily multidisciplinary, and is a long ...
Alicia‐Marine Milot, Mariya Raykova, Claire Huzar, Véronique Thellier, Nicolas Hergibo, Marjolaine Gauthier, Gipsy Billy‐Lopez, Chantal Durand, Frédérique Nugues, Véronique Bourg, Klaus Dieterich   +10 more
wiley   +1 more source