Results 121 to 130 of about 2,143,667 (228)

From Genomics to Precision Cardiology: A Comprehensive Review of Clinical Applications and Challenges in Cardiovascular Diseases

Clinical Cardiology, Volume 49, Issue 10, October 2026.
Genomic medicine in cardiovascular care is progressing from established diagnostic applications toward integrated risk prediction, multiomics, and emerging therapeutic strategies. ABSTRACT Background Genomic cardiology is an emerging field integrating genetic, molecular, imaging, and digital health data to improve cardiovascular disease (CVD ...
Neda Mohsen‐Pour, Shiva Esmaeili, Aydin Feyzi, Ali Sharafi, Majid Maleki, Samira Kalayinia   +5 more
wiley   +1 more source

Element 2 Letter to Chairs from UCOC Core General Education Assessment, 2019-2020

, 2020
The Letter to Chairs from UCOC for Element 2 - Mathematics as part of the institution’s ongoing general education Core assessment ...
Undergraduate Core Oversight Committee, Wright State University
core   +1 more source

Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy

Annals of Clinical and Translational Neurology
Objective ACTN2, encoding alpha‐actinin‐2, is essential for cardiac and skeletal muscle sarcomeric function. ACTN2 variants are a known cause of cardiomyopathy without skeletal muscle involvement.
Sandra Donkervoort, Payam Mohassel, Melanie O'Leary, Devon E. Bonner, Taila Hartley, Nicole Acquaye, Astrid Brull, Tahseen Mozaffar, Mario A. Saporta, David A. Dyment, Jacinda B. Sampson, Sander Pajusalu, Christina Austin‐Tse, Kyle Hurth, Julie S. Cohen, Kirsty McWalter, Jodi Warman‐Chardon, Amy Crunk, A. Reghan Foley, Undiagnosed Diseases Network, Andrew L. Mammen, Matthew T. Wheeler, Anne O'Donnell‐Luria, Carsten G. Bönnemann   +23 more
doaj   +1 more source

USP25 stabilises GLI1 through K48‐linked deubiquitination within a reciprocal regulatory circuit in osteoarthritis models

Clinical and Translational Medicine, Volume 16, Issue 10, October 2026.
GLI1‐centred USP25‐GLI1 reciprocal regulation in OA‐relevant models. Hedgehog/GLI1 signalling transcriptionally reinforces USP25 expression, while USP25 deubiquitinates and stabilises GLI1. This reciprocal circuit is associated with inflammatory and cartilage‐catabolic changes in the tested models.
Qian Zhang, Yinyan Ye, Yijie Huang, Jun Li, Dongfeng Huang   +4 more
wiley   +1 more source

Genetic and Pharmacologic Inhibition of Myostatin Restores Muscle Mass in a Dynamin 2‐Related Centronuclear Myopathy Mouse Model

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 5, October 2026.
ABSTRACT Background Autosomal dominant centronuclear myopathy (ADCNM), most commonly caused by mutations in the dynamin 2 (DNM2) gene, is a rare congenital myopathy characterized by progressive muscle weakness and atrophy. Myostatin, a key negative regulator of skeletal muscle mass, has shown therapeutic potential in several models of neuromuscular ...
Durieux Anne‐Cécile, Arnould David, Velarde Mathias, Allibert Valentine, Paret Chloé, Debelley Quentin, Kizilkilic Esra, Chambon Sidney, Girard Emmanuelle, Collin Louise, Gensel Alexandre, Castells Josiane, Pasternack Aja, Bowen Maximilien, Morel Baptiste, Hourdé Christophe, Laurent Schaeffer, Ritvos Olli, Bitoun Marc, Mounier Rémi, Freyssenet Damien   +20 more
wiley   +1 more source

Exploring the Impact of Urolithins A and B on Muscle Health: A Transcriptomic Analysis in Human Myotubes

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 5, October 2026.
ABSTRACT Background Urolithin A (UA) and urolithin B (UB) are gut microbiota‐derived metabolites of ellagitannins reported to influence mitochondrial function, inflammation and muscle metabolism. Their comparative transcriptomic effects in human skeletal muscle cells remain undefined.
Yves Henrotin, Antoine Florin, Christelle Sanchez, Prescilia Centonze, Tiago Pinto Coelho, Sophie Bekisz, Jean‐Emile Dubuc, Olivier Galand, Cécile Lambert   +8 more
wiley   +1 more source

[Congenital myopathy with cores and nemaline rods in one family].

Neurologia (Barcelona, Spain), 1995
We present a mother and 2 children with congenital myopathy whose clinical signs were facial paresis in all three, and mild involvement of the lower extremities in the mother and one son. All three presented skeletal abnormalities, hypertelorism, arched palate, retraction of the Achilles tendon or short neck.
J L, Casado, C, Arenas, D, Segura, I, Chinchón, R, González, J, Bautista   +5 more
openaire   +1 more source

Hypertriglyceridemia: Causes, Consequences, Diagnosis, and Management

MedComm, Volume 7, Issue 10, October 2026.
Hypertriglyceridemia (HTG) arises from the interplay between genetic susceptibility and secondary or precipitating factors, leading to dysregulated triglyceride‐rich lipoprotein (TRL) metabolism. Increased TRL production and impaired clearance promote distinct risk phenotypes: accumulation of apolipoprotein B(apoB)‐containing TRL remnants contributes ...
Shanshan Qi, Weiwei Chen, Kunhao Chen, Song Yang, Sibo Wang, Tongtian Ni, Dan Xu, Enqiang Mao, Erzhen Chen, Ying Chen   +9 more
wiley   +1 more source

Two journeys, one diagnosis: exploring the clinical outcomes of twins with congenital myopathy

BMC Neurology
Mutations in the RYR1 gene, responsible for encoding the skeletal muscle calcium release channel, are linked to conditions such as malignant hyperthermia and central core disease.
M. C. Pera, G. Pisanò, M. Gnazzo, S. Moretti, L. Gambini, A. Percesepe, S. Esposito, S. Perrone   +7 more
doaj   +1 more source

Glycoproteomic Signatures of IgG Subclass N‐Glycosylation Reveal Molecular Endotypes in Idiopathic Inflammatory Myopathies

MedComm, Volume 7, Issue 10, October 2026.
• EThcD‐sceHCD‐MS/MS and updated PANDA software decode IgG N‐glycosylation in IIMs. • Unsupervised clustering reveals three novel glyco‐endotypes matching clinical phenotypes. • A seven‐glycopeptide model enables robust endotype prediction beyond conventional subtypes.
Tong Wu, Yanhong Li, Yingying Ling, Yinlan Wu, Jing Zhao, Lu Cheng, Chunyu Tan, Yi Zhang, Yong Zhang, Yi Liu   +9 more
wiley   +1 more source