Results 141 to 150 of about 615,554 (304)

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

Aminoacyl‐tRNA Synthetases: Variant Classification, Functional Assays, and Emerging Therapeutic Strategies

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Aminoacyl‐tRNA synthetases (aaRS) are essential enzymes that charge tRNAs with their corresponding amino acids, playing a critical role in protein synthesis. All 37 nuclear‐encoded ARS genes, comprising both cytosolic (ARS1) and mitochondrial (ARS2) isoforms, have now been linked to human disease.
M. I. Mendes, D. E. Smith, V. Spek, A. M. Bosch, W. E. Corpeleijn, M. Engelen, S. A. Fuchs, A. Hadchouel, I. U. Heinemann, R. H. Houtkooper, E. M. M. Hoytema van Konijnenburg, S. Kemp, M. Langeveld, C. D. M. Karnebeek, A. Pop, V. M. Siu, N. I. Wolf, G. S. Salomons   +17 more
wiley   +1 more source

Smarca4 maintains mitochondrial homeostasis and energy metabolism during cardiac development

Cellular and Molecular Life Sciences
Mitochondrial metabolism is fundamental to cardiac and skeletal muscle function due to the high adenosine triphosphate (ATP) demand required for sustained contractility.
Deung-Dae Park, Sujin Kim, Alena Boos, Yannik Andrasch, Leonie Krieg, Wolfgang Rottbauer, Steffen Just   +6 more
doaj   +1 more source

Lipofuscin: The Missing Link in the Worsening of Obstructive Sleep Apnea

The Laryngoscope, Volume 136, Issue 5, Page 2362-2369, May 2026.
Lipofuscin, also known as the age pigment, is a permanent autofluorescent intracellular deposit that accumulates with aging or oxidative stress, thereby interfering with cellular function. This study revealed significantly larger deposits of lipofuscin in the lateral pharyngeal wall muscles of patients with severe obstructive sleep apnea (OSA) compared
Kristine Fahl, Carlos Modesto Vera Palomino, Mauricio da Silva Baptista, Adriano Polican Ciena, Danielle Andrade da Silva Dantas, Luiz Ubirajara Sennes, Marucia Chacur, Michel Burihan Cahali   +7 more
wiley   +1 more source

Innate Lymphoid Cells in Tissue Homeostasis and Diseases

MedComm, Volume 7, Issue 5, May 2026.
Innate lymphoid cells (ILCs) are a heterogeneous group of immune cells with phenotypic and functional plasticity. ILCs dynamically regulate various immune cell types and play a crucial role in the pathophysiological processes of specific organs during sepsis. Targeting ILCs is a promising strategy for treating sepsis.
Zhenzhen Zhan, Heyang Sun, Chenning Li, Qianya Hong, Shuainan Zhu, Ying Yu, Hao Zhang, Kefang Guo   +7 more
wiley   +1 more source

Skeletal Muscle Microbiopsies in Children and Adults—Tolerability, Sample Yield, and Analyzability

Muscle &Nerve, Volume 73, Issue 5, Page 794-799, May 2026.
ABSTRACT Introduction/Aims Traditional methods of sampling skeletal muscle tissue are invasive. This study aimed to evaluate a sub‐millimeter core‐biopsy (microbiopsy) as a potentially more tolerable method, with further regard to tissue yield and analyzability of RNA expression.
Emil Rydell Högelin, Sebastian Edman, Paulo R. Jannig, Axel Löfgren, Kajsa Thulin, Piotr Michno, Jessica Norrbom, Björn A. Alkner, Ferdinand von Walden, Lotta Fornander   +9 more
wiley   +1 more source

Fourier-Transform Infrared Spectroscopy of Skeletal Muscle Tissue: Expanding Biomarkers in Primary Mitochondrial Myopathies. [PDF]

Genes (Basel), 2020
Gervasoni J, Primiano A, Marini F, Sabino A, Biancolillo A, Calvani R, Picca A, Marzetti E, Persichilli S, Urbani A, Servidei S, Primiano G.   +11 more
europepmc   +1 more source

Muscle fibre type shift in COPD: Adaptive, maladaptive or a bit of both?

Experimental Physiology, EarlyView.
Jacob Peter Hartmann, Hannah G. Caldwell, Ulrik Winning Iepsen   +2 more
wiley   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Review Article: Targeting Peroxisome Proliferator‐Activated Receptors in Primary Biliary Cholangitis

Alimentary Pharmacology &Therapeutics, Volume 63, Issue 9, Page 1215-1235, May 2026.
Peroxisome proliferator‐activated receptor (PPAR) agonists have emerged as important second‐line treatments in primary biliary cholangitis, with profiles influenced by different selectivity for α‐, δ‐ and γ‐isoforms. PPAR‐α and PPAR‐δ agonism improve cholestasis, with inflammation reduced via all isoforms. PPAR‐δ agonism also reduces pruritus.
Jörn M. Schattenberg, Jesus M. Banales, Gideon Hirschfield, Palak Trivedi, Edward E. Cable, Charles A. McWherter, Andrew N. Billin, Daria B. Crittenden, Grant Budas   +8 more
wiley   +1 more source