Results 71 to 80 of about 11,986 (188)

Rhabdomyolysis Associated With Heated Massage Therapy in a Patient Without Major Trauma: A Case Report

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT A 29‐year‐old professional dancer developed rhabdomyolysis after distal radial fracture fixation complicated by laryngospasm, negative pressure pulmonary oedema, suxamethonium use, and ICU admission. Creatine phosphokinase (CPK) peaked at 36,429 U/L with dark urine and hyperkalaemia.
Ashani Ratnayake, Sayomi Warnakula, Yasitha Handapangoda, Udara Rathnayake, Lasanthika Athapaththu, Sanduni Rupasinghe   +5 more
wiley   +1 more source

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies

Dominant mutations in the skeletal muscle ryanodine receptor (RYR1) gene are well-recognized causes of both malignant hyperthermia susceptibility (MHS) and central core disease (CCD).
Appleton R, Jungbluth H, Bushby K, D'Amico A, Treves S, Manzur A, Messina S, Robb S, Roper H, Bertini E, Muntoni F, Feng L, Muller CR, Brockington M, Quinlivan R, Sewry CA, Straub V, Zhou H, Rose MR, Swash M, Kinali M, Brown S   +21 more
core   +5 more sources

Structural insights into the regulation of RyR1 by S100A1

Proceedings of the National Academy of Sciences
S100A1, a small homodimeric EF-hand Ca 2+ -binding protein (~21 kDa), plays an important regulatory role in Ca 2+ signaling pathways involved in various biological functions including Ca 2+ cycling and contractile
Gunnar Weninger, Marco C. Miotto, Carl Tchagou, Steven Reiken, Haikel Dridi, Sören Brandenburg, Gabriel C. Riedemann, Qi Yuan, Yang Liu, Alexander Chang, Anetta Wronska, Stephan E. Lehnart, Andrew R. Marks   +12 more
openaire   +3 more sources

Förster resonance energy transfer measurements of ryanodine receptor type 1 structure using a novel site-specific labeling method. [PDF]

PLoS ONE, 2009
While the static structure of the intracellular Ca(2+) release channel, the ryanodine receptor type 1 (RyR1) has been determined using cryo electron microscopy, relatively little is known concerning changes in RyR1 structure that accompany channel gating.
James D Fessenden
doaj   +1 more source

Polymorphic myopathological findings in a 77‐year‐old woman with oculo‐bulbo‐facial and distal weakness

Brain Pathology, EarlyView.
Michele Tosi, Angela Puma, Elena Faedo, Gianmarco Severa, Luisa Villa, Sabrina Sacconi, Edoardo Malfatti   +6 more
wiley   +1 more source

Does Next Generation Sequencing (NGS)‐Based CYP2D6 Sequencing Improve Genotype–Phenotype Concordance in Tamoxifen‐Treated Patients?

Clinical Pharmacology &Therapeutics, Volume 120, Issue 3, Page 731-744, September 2026.
CYP2D6 metabolizes about 20% of commonly used drugs, including tamoxifen, a major hormone therapy for breast cancer. Although the relationship between tamoxifen pharmacokinetics and CYP2D6 genotype has been demonstrated, residual variability in drug exposure remains unexplained.
Jeanne Petit, Julien Plenecassagnes, Aurelie Brice, Florence Dalenc, Ludovic Mallet, Etienne Chatelut, Ayman Al Saati, Fabienne Thomas   +7 more
wiley   +1 more source

An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
A multidisciplinary strategy that integrates deep phenotyping with expert genetic interpretation substantially increases the likelihood of reaching a diagnosis in adults suspected of having an IMD. ABSTRACT Inherited metabolic disorders (IMDs) arise from defects in metabolic pathways essential for normal biochemical function.
Machteld M. Oud, Elise A. Ferreira, Clara D. M. van Karnebeek, Robin Wijngaard, Nicole I. Wolf, Marc Engelen, Mareen Datema, Sacha Ferdinandusse, André B. P. van Kuilenburg, Laura Steinbusch, Saskia N. van der Crabben, Mirjam Langeveld, on behalf of the ZOEMBA Study Group   +12 more
wiley   +1 more source

Exercise capacity in RYR1-related myopathies

Orphanet Journal of Rare Diseases
Abstract Background Pathogenic variations affecting the ryanodine receptor 1 (RYR1) gene may result in a variety of neuromuscular disorders, collectively known as RYR1-related myopathies. Considered the most common form of congenital myopathy, individuals with RYR1-related myopathies may experience skeletal muscle ...
Lisa M. K. Chin, Joshua J. Todd, Irene C. Chrismer, Jessica W. Witherspoon, Minal Jain, Melissa Waite, Katherine G. Meilleur, Bart Drinkard, Tokunbor A. Lawal   +8 more
openaire   +3 more sources

Cryo-electron microscopy reveals sequential binding and activation of Ryanodine Receptors by statin triplets

Nature Communications
Statins are the most prescribed class of drugs and inhibit a key enzyme in the cholesterol biosynthesis pathway. Many patients have reported mild to severe muscle related symptoms and a subset are at risk for rhabdomyolysis.
Steven Molinarolo, Carmen R. Valdivia, Héctor H. Valdivia, Filip Van Petegem   +3 more
doaj   +1 more source

Aged Mitochondrial DNA Is Associated With Aberrant Acute Exercise‐Induced Redox Responses in Human Skeletal Muscle

Aging Cell, Volume 25, Issue 9, September 2026.
Findings from this study suggest that aging is accompanied by altered skeletal muscle mitochondrial redox regulation and exercise responsiveness, with decreased mtDNA copy number, increased mtDNA mutation deletion frequency, and selective redox remodeling of key mitochondrial proteins representing potential contributors to these changes. ABSTRACT Redox
Bradley A. Ruple, Nicholas A. Carlini, Jason S. Kofoed, Helya Rostamkhani, Brady E. Hanson, Jesse C. Craig, Shelby C. Osburn, Allison M. Manuel, Paul A. Stewart, Jonathan Wanagat, Ryan M. Broxterman, Joel D. Trinity   +11 more
wiley   +1 more source