Results 101 to 110 of about 27,913 (221)

Unraveling the spatial landscape of dystrophinopathies: a transcriptomic approach to Becker and Duchenne muscular dystrophies

The Journal of Pathology, Volume 269, Issue 3, Page 363-380, July 2026.
Abstract Dystrophinopathies are caused by pathogenic variants in the DMD gene, resulting in partial (Becker) or complete loss (Duchenne) of dystrophin. Becker (BMD) and Duchenne muscular dystrophy (DMD) are characterized by progressive muscle wasting, fatty replacement, fibrosis, and loss of function.
Laura GM Heezen, Qirong Mao, Stefan Nicolau, Claudio Novella Rausell, Julia van der Weerd, Jan Kueckelhaus, Rasya Gokul Nath, Jordi Diaz‐Manera, Hermien E Kan, Erik H Niks, Maaike van Putten, Annemieke Aartsma‐Rus, Kevin M Flanigan, Ahmed Mahfouz, Pietro Spitali   +14 more
wiley   +1 more source

Dystrophin‐Deficient Muscular Dystrophy in a Jack Russell Terrier With a Large Deletion in the Canine DMD Gene

Veterinary Medicine and Science, Volume 12, Issue 4, July 2026.
A 6‐month‐old male Jack Russell Terrier presenting with muscle wasting and lethargy was diagnosed with Duchenne‐like muscular dystrophy based on clinical, electromyographic, histopathological, and immunohistochemical evidence of dystrophin deficiency. Whole genome sequencing identified a novel 25.5 kb deletion encompassing exons 8 and 9 of the DMD gene,
Emilie Royaux, G. Diane Shelton, Vidhya Jagannathan, Tosso Leeb, Michaela Drögemüller   +4 more
wiley   +1 more source

Development of Ultrasound Microbubbles and Phase Shift Microbubbles in Theranostics

WIREs Nanomedicine and Nanobiotechnology, Volume 18, Issue 4, July/August 2026.
Microbubbles have been originally designed for diagnostic applications. Over the years, microbubbles and phase shift microbubbles have been further developed for therapeutic indications. ABSTRACT Ultrasound is widely used for diagnostic imaging and therapy.
Emmanuelle J. Meuillet, Evan C. Unger
wiley   +1 more source

Essential Role for Telomeric Repeat‐Binding Factor 2 in Cardiac Development and Function

FASEB BioAdvances, Volume 8, Issue 7, July 2026.
This schematic illustrates a paradigm shift in telomere biology, demonstrating that Trf2 is a mandatory orchestrator of heart development and function through pathways distinct from its canonical telomere protective role. ABSTRACT Telomere repeat‐binding factor 2 (Trf2) is essential for protecting our telomeres.
Ali Hakim Shoushtari, Aysenure Danis, Michael Wayne Stoner, Jeffrey Baust, Andrea Sebastiani, Paramesha Bugga, Janet R. Manning, Bellina A. S. Mushala, Nisha Bhattarai, Imad Al Ghouleh, Iain Scott, Maryam Sharifi‐Sanjani   +11 more
wiley   +1 more source

Sperm Sexing in Selected Animals and Humans: Methods, Applications, and Future Prospects

Andrology, Volume 14, Issue 5, Page 1089-1101, July 2026.
ABSTRACT Background Sperm sexing is a technique that enables the selection of offspring sex by sorting spermatozoa based on their sex chromosomes. This technology has gained increasing attention due to its potential applications in both animal breeding and human‐assisted reproduction.
Domrazek Kinga, Jurka Piotr
wiley   +1 more source

Diaphragm‐specific effects of L‐citrulline in mdx mice highlight its potential as adjuvant of standard therapy in Duchenne muscular dystrophy

British Journal of Pharmacology, Volume 183, Issue 13, Page 3866-3884, July 2026.
Abstract Background and Purpose The absence of the protein dystrophin in Duchenne muscular dystrophy (DMD) leads to progressive muscle weakness, failing regeneration and deregulation of nitric oxide (NO) signalling. We focused on L‐citrulline, a precursor of L‐arginine, required for NO production in muscle, which is reduced in dystrophic mdx muscle ...
Lisamaura Tulimiero, Brigida Boccanegra, Paola Mantuano, Antonietta Mele, Michela De Bellis, Roberta Lenti, Francesca Sanarica, Santa Cirmi, Elena Conte, Ornella Cappellari, Amber E. Sherrard, Ardawna Green, Mira Srinivasa, Marta L. Fiorotto, Annamaria De Luca   +14 more
wiley   +1 more source

Noncompaction in Duchenne Muscular Dystrophy

Internal Medicine, 2016
Finsterer, Josef, Zarrouk-Mahjoub, Sinda
openaire   +6 more sources

Cardioprotection in Duchenne muscular dystrophy

European Heart Journal, 2021
Anjali Tiku Owens, Mariell Jessup
openaire   +2 more sources

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration

Clinical Genetics, Volume 110, Issue 1, Page 46-63, July 2026.
Whole exome sequencing for Romanian patients with neurodevelopmental disorders through an international collaboration—this study has provided a 50% diagnostic yield for patients with NDDs (27 positive results from 54 patients), supporting the implementation of a WES analysis that can identify SNVs, small INDELs, CNVs, and mitochondrial variants ...
Alexandru Caramizaru, Cristina Durac, Andreea Dumitrescu, Alexandru Calota‐Dobrescu, Alix de Becdelièvre, Marina Konyukh, Denise Cassandrini, Hane Lee, Go Hun Seo, Seung Woo Ryu, Mihai Cucu, Iuliana Manuela Dragomir, Andreea Catana, Homa Tajsharghi, Edoardo Malfatti, Florin Burada, Amelia Dobrescu   +16 more
wiley   +1 more source

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