Results 111 to 120 of about 28,350 (246)

The Molecular Diagnosis of Myopathies: Integrating Genomic, Proteomic, and Pathological Insights Toward Precision Medicine

Clinical Genetics, Volume 110, Issue 1, Page 15-28, July 2026.
Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem, Denise de Abreu Pereira, Katia Carneiro   +2 more
wiley   +1 more source

Exercise Training Stimulates the Release of Glutathione Peroxidase 1 (GPX1)‐Enriched Extracellular Vesicles That Promote Angiogenesis

The FASEB Journal, Volume 40, Issue 12, 30 June 2026.
Exercise Training Stimulates the Release of Glutathione Peroxidase 1 (GPX1)‐Enriched Extracellular Vesicles that Promote Angiogenesis. The results from this study suggest that EVs isolated from blood immediately after the last bout of endurance exercise training (ExerV) are enriched in antioxidants. ExerVs stimulate vascular growth both in vitro and in 
Alexander M. Fliflet, Ray A. Spradlin, Yanqi Tan, Ane Nishitha Vijayan, Sung Jun Choi, Wei‐Chun Kao, Edita Aksamitiene, Michael Nelappana, Shengzhe Ding, Kai‐Yu Huang, Aryaman Joshi, Nurila Kambar, Tom Bludgen, Madeleine Meehan, Jayna L. Boss, Michael Knipp, Hongming Fan, Cecilia Leal, Roger A. Sunde, Lawrence W. Dobrucki, Stephen A. Boppart, Hyun Joon Kong, Jonathan V. Sweedler, Marni D. Boppart   +23 more
wiley   +1 more source

Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9

Annals of Clinical and Translational Neurology, Volume 13, Issue 6, Page 1154-1159, June 2026.
ABSTRACT Background Limb girdle muscular dystrophy type R9 (LGMDR9) results from biallelic variants in FKRP. There is limited data to predict loss of ambulation (LOA) among those with LGMDR9. Methods Participants in an ongoing dystroglycanopathy natural history study (NCT00313677) with FKRP variants who had achieved ambulation and were more than 3 ...
Chandra L. Miller, Lauren N. Coffey, Shelley R. H. Mockler, Katie M. Laubscher, Carrie M. Stephan, M. Bridget Zimmerman, Katherine D. Mathews   +6 more
wiley   +1 more source

Dystrophin intensities quantification by the Arechavala et al., 2010 method using two different anti-dystrophin antibodies.

, 2018
Serial sections were cut from muscle blocks of two controls (control 1 and 2), two DMD and two BMD patients. Immunostainings were performed used two antibody combinations: 1) anti-dystrophin ab15277/anti spectrin and 2) anti-dystrophin MANDYS106/anti ...
Francesco Muntoni (228210), Caroline Sewry (3498809), Matthew Ellis (68657), Rahul Phadke (435623), Jennifer E. Morgan (205557), Silvia Torelli (358373), Lucy Feng (435622), Valentina Sardone (540411), Darren Chambers (4348093), Deborah Eastwood (5007509)   +9 more
core   +1 more source

Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, Volume 13, Issue 6, Page 1129-1140, June 2026.
ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas, Mauro Monforte, Angel Sanchez‐Montañez, Penélope Romero‐Duque, Elena Pegoraro, Jordi Díaz‐Manera, Dmitry Vlodavets, Lorenzo Maggi, Marco Moscatelli, Adele D‘Amico, Montse Olivé, Jorge Alonso‐Pérez, Giacomo Comi, José Miguel Escudero‐Fernández, Gabriela S. Urcuyo, Anna Pichiecchio, Angela Berardinelli, Kristl G. Claeys, Claudio Bruno, Chiara Panicucci, Sara Bortolani, Eleonora Torchia, Enzo Ricci, Soledad Monges, Jorge A. Bevilacqua, Jorge Diaz‐Jara, Maggie C. Walter, Simone Thiele, Nicoline Løkken, John Vissing, Susana Quijano‐Roy, Robert Y. Carlier, Nicol C. Voermans, Chiara Marini‐Bettolo, Michela Guglieri, Volker Straub, Lea Leonardis, Francina Munell, David Gómez‐Andrés, Giorgio Tasca   +39 more
wiley   +1 more source

Conformable Microelectrode Arrays Integrated with a Scoop‐Shaped Slide‐Well for Dynamic Electrophysiological Profiling of Patient‐Derived Cardiac Organoids

Advanced Science, Volume 13, Issue 31, 4 June 2026.
A flexible, ultrathin multi‐channel microelectrode array (MEA) conformally integrated onto a curved slide‐well enables stable electrical interfacing with 3D cardiac organoids. The geometry‐guided self‐alignment allows simultaneous recording of extracellular field potentials and contractile motion from irregular, beating tissues.
Ye Seul Kim, Jeonghwa Jeong, Gyeonghwa Heo, Young Woo Kwon, Jeongha Lee, Yoon Ji Jeong, Gyu Tae Park, Seongdo Jeong, Ki Won Hwang, Murim Choi, Jinhong Shin, Suck Won Hong, Jae Ho Kim   +12 more
wiley   +1 more source

NAT10‐mediated N4‐acetylcytidine modification drives RNA splicing of PML to alleviate adipose‐derived stem cell senescence and promote diabetic wound healing

Clinical and Translational Medicine, Volume 16, Issue 6, June 2026.
N‐acetyltransferase 10 (NAT10) catalyses N4‐acetylcytidine (ac4C) modification of PML pre‐mRNA, shifting splicing from the senescence‐promoting PML‐FL to the senescence‐inhibiting PML‐S isoform via SRSF1. This rejuvenates adipose‐derived stem cells (ADSCs) by reducing senescence markers and senescence‐associated secretory phenotype (SASP), thereby ...
Wuhan Wei, Chanyuan Jiang, Dong Zhu, Xuefeng Han, Xuan Ma, Xinyu Jia, Jiaqi Ling, Rui Zhang, Facheng Li, Ningbei Yin   +9 more
wiley   +1 more source

Utrophin Compensates dystrophin Loss during Mouse Spermatogenesis

Scientific Reports, 2017
Duchenne muscular dystrophy (DMD) is an X-linked genetic disorder resulting from mutations in the dystrophin gene. The mdx/utrn −/− mouse, lacking in both dystrophin and its autosomal homologue utrophin, is commonly used to model the clinical symptoms of
Hung-Chih Chen, Yu-Feng Chin, David J. Lundy, Chung-Tiang Liang, Ya-Hui Chi, Paolin Kuo, Patrick C. H. Hsieh   +6 more
doaj   +1 more source

Mutation type‐specific transcriptomic signatures and readthrough therapy rescue in SMC1A‐related developmental and epileptic encephalopathy

Epilepsia, Volume 67, Issue 6, Page 3185-3198, June 2026.
Abstract Objective This study was undertaken to investigate the molecular consequences of pathogenic variants in the SMC1A gene—particularly those associated with developmental and epileptic encephalopathy (DEE85)—and to evaluate the therapeutic potential of ataluren in restoring SMC1A function and mitigating disease‐related transcriptomic and genomic ...
Maddalena Di Nardo, Francesca Sardina, Maria M. Pallotta, Iñigo Marcos‐Alcalde, Paulino Gómez‐Puertas, Cinzia Rinaldo, Ian D. Krantz, Antonio Musio   +7 more
wiley   +1 more source

From Cell Line to Fillet: A Review of Biological and Engineering Strategies in Cultivated Seafood

Food Bioengineering, Volume 5, Issue 2, Page 259-277, June 2026.
Bottlenecks of the cultivated seafood industry are shown, and they prevent efficiency of key production stages. These include limited cell line availability, sustainable and cost‐effective media, adaption to suspension culture, sustainable cost‐effective and edible scaffolds, food regulatory approval and acceptance of genetic modified organisms (GMO ...
Angela Trace, Miriam Wankell, Craig McFarlane, Lionel Hebbard   +3 more
wiley   +1 more source