Results 61 to 70 of about 11,986 (188)

Strategies for Diagnosis of Diseases in Pigs Using Molecular Markers Review

Scientific Papers Animal Science and Biotechnologies, 2023
In certain breeds of pigs were identified the porcine stress syndrome (PSS) that determine the appearance of some carcasses inadequate for processing. Because PSS can be triggered by halothane, the gene responsible for the syndrome is often referred to ...
Vasile Băcilă, Daniela Elena Ilie, Annamaria Băcilă, Marius Vladu, Nicoleta Ișfan   +4 more
doaj  

Comprehensive genomic profiling of mucosal melanoma reveals novel fusion transcripts and dysregulation of cell‐cycle, MAPK, and PI3K pathways

The Journal of Pathology, Volume 270, Issue 3, Page 380-395, November 2026.
Abstract Mucosal melanomas (MMs) are rare, aggressive cancers with poor outcomes and limited response to standard therapies. A significant knowledge gap exists regarding their genomic landscape and corresponding druggable targets. This study explores this issue through a multi‐omic analysis, including whole exome‐, RNA‐, and targeted sequencing, of ...
Matilde Monti, Martina Brigida Romanello, Luca Agnelli, Matteo Orlandi, Luca Bertoli, Sara Picinoli, Irene Pezzali, Giulio Eugenio Mandelli, Daniela Medicina, Giovanni Ribaudo, Adele Busico, Elena Conca, Vilma Pellegrini, Piera Balzarini, Daniele Gallucci, Anna Di Matteo, Davide Lombardi, Claudia Ghigna, Giancarlo Pruneri, Alessandra Gianoncelli, Marzia Rossato, William Vermi   +21 more
wiley   +1 more source

Identifying Co‐Expressed lncRNAs Correlated With Traits of Interest in an Animal Model for Metabolic Diseases in Humans

Animal Genetics, Volume 57, Issue 5, October 2026.
ABSTRACT Nutrigenomics investigates how nutrients modulate gene expression. Among them, fatty acids (FA) play important roles in regulating gene transcription, while long non‐coding RNAs (lncRNAs) may be associated with gene regulation and metabolic diseases.
Lucas Echevarria Nascimento, Bruna Pereira Martins da Silva, Camila Sabino de Oliveira, Mariah Castro Durval, Felipe André Oliveira Freitas, Fernanda Nery Ciconello, Izally Carvalho Gervásio, Simara Larissa Fanalli, Pablo Augusto de Souza Fonseca, Beatriz Gutiérrez‐Gil, Vivian Vezzoni de Almeida, Aline Silva Mello Cesar   +11 more
wiley   +1 more source

Identification of drug modifiers for RYR1-related myopathy using a multi-species discovery pipeline

eLife, 2020
Ryanodine receptor type I-related myopathies (RYR1-RMs) are a common group of childhood muscle diseases associated with severe disabilities and early mortality for which there are no available treatments.
Jonathan R Volpatti, Yukari Endo, Jessica Knox, Linda Groom, Stephanie Brennan, Ramil Noche, William J Zuercher, Peter Roy, Robert T Dirksen, James J Dowling   +9 more
doaj   +1 more source

Function of a mutant ryanodine receptor (T4709M) linked to congenital myopathy

Scientific Reports, 2023
Physiological muscle contraction requires an intact ligand gating mechanism of the ryanodine receptor 1 (RyR1), the Ca2+-release channel of the sarcoplasmic reticulum. Some mutations impair the gating and thus cause muscle disease.
Zsuzsanna É. Magyar, Judit Hevesi, Linda Groom, Robert T. Dirksen, János Almássy   +4 more
doaj   +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

Mechanisms underlying the phenotypic diversity in RYR1-associated Malignant Hyperthermia [PDF]

, 2020
Malignant hyperthermia (MH) is a potential fatal hereditary skeletal muscle disorder that occurs upon exposure to certain anaesthetic agents. Susceptibility is predominantly conferred by variants in the RYR1 gene encoding the type 1 ryanodine receptor ...
Kaura, Vikas
core   +3 more sources

Relaxin‐2: Shaping the Proteomic Landscape of Skeletal Muscle Physiology, Glucose Trafficking, and Mitochondrial Function in Rat

The FASEB Journal, Volume 40, Issue 18, 30 September 2026.
Cardioprotective hormone relaxin‐2 showed relevant effects on rat skeletal muscle by altering proteins linked to muscle function, regeneration, differentiation, mitochondrial function, glucose metabolism, and structural integrity and organization. Specifically, relaxin‐2 reduced the expression of 95 proteins, increased 32, and elicited unique proteins ...
Xocas Vázquez‐Abuín, Lucía Gómez‐Cibeira, Javier García‐Seara, Pablo de la Fuente‐López, Carlos Minguito‐Carazo, Susana B. Bravo, Manuel Otero‐Santiago, Oreste Gualillo, José Ramón González‐Juanatey, Francisca Lago, Sandra Feijóo‐Bandín, Alana Aragón‐Herrera   +11 more
wiley   +1 more source

Functional Characterization of Endogenously Expressed Human RYR1 Variants

, 2021
More than 700 variants in the RYR1 gene have been identified in patients with different neuromuscular disorders including malignant hyperthermia susceptibility, core myopathies and centronuclear myopathy.
Zorzato, Francesco, Treves, Susan, Girard, Thierry   +2 more
core   +1 more source

Additive‐Manufactured, Multifunctional Bioreactor Technology for Dynamic Culture of 3D Bioprinted Tissue Models

Advanced Materials Technologies, Volume 11, Issue 17, 3 September 2026.
We introduce an additively manufactured bioreactor with a perfusion flow system and integrated temperature and pH sensors for skeletal muscle tissue biofabrication. The bioreactor's performance was evaluated by assessing the viability, spreading of the myoblast cells in a printed scaffold, and contraction of the isolated murine musculi interossei ...
Lys Sprenger, Johann Schorzmann, Hsuan‐Heng Lu, Muhammad Osama, Julian Bauer, Michael Haug, Oliver Friedrich, Aldo R. Boccaccini, Frank Döpper, Sahar Salehi   +9 more
wiley   +1 more source