Proteomic Profiling of Myofiber Repair Annexins and Their Role in Duchenne Muscular Dystrophy
PROTEOMICS, EarlyView.ABSTRACT Myofiber regeneration and membrane repair play crucial roles in maintaining the continuous physiological functioning of the neuromuscular system. A swift and efficient repair mechanism enables the rapid restoration of sarcolemmal integrity following cellular impairment in damaged skeletal muscles.
Paul Dowling +6 more
wiley +1 more source
Identification of a Novel Nonsense Mutation in the <i>IGSF1</i> Gene Reveals Sex-Specific Phenotypic Variability Within a Single Family. [PDF]
Children (Basel)Ruta R +5 more
europepmc +1 more source
Proteins: Structure, Function, and Bioinformatics, EarlyView.ABSTRACT Human citrate synthase (hCS) is a mitochondrial enzyme that catalyzes the aldol condensation of acetyl coenzyme A (AcCoA) to oxaloacetate to form citrate in the TCA cycle. CS activity is important for aerobic exercise performance and basic metabolic function as a housekeeping enzyme.
Noah Shackelford +3 more
wiley +1 more source
A novel nonsense mutation in the fumarate hydratase gene in a Chinese patient with recurrent leiomyomas. [PDF]
F S Rep, 2023 Ruan Y, Feng W, Yang C.
europepmc +1 more source
Chinese Clinical Practice Guidelines for Auditory Neuropathy (gCAN)
World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.ABSTRACT Auditory neuropathy (AN) is an auditory disorder that affects the function of the auditory pathway. An increasing number of AN cases have been identified with the revelation of the underlying mechanisms, the advancements of diagnostic and detecting techniques.
Chinese Multi‐Center Research Collaborative Group on Clinical Diagnosis and Intervention of Auditory Neuropathy; Editorial Board of Chinese Journal of Otorhinolaryngology Head and Neck Surgery; Society of Otorhinolaryngology Head and Neck Surgery +43 more
wiley +1 more source
Natural history of patients with nonsense mutation Duchenne muscular dystrophy treated with ataluren in Spain. [PDF]
Acta MyolArmijo J +5 more
europepmc +1 more source
A nonsense mutation in mouse Adamtsl2 causes uterine hypoplasia and an irregular estrous cycle. [PDF]
Mamm Genome, 2023 Iwanaga Y +5 more
europepmc +1 more source
Huntington's Disease‐like Syndrome as a Rare Presentation of CACNA1A‐Related Disorder
Movement Disorders Clinical Practice, EarlyView.
Petros Boumis +14 more
wiley +1 more source
Blubber Thickening Driven by UCP1 Inactivation: Insights from a Cetacean‐Like Transgenic Mouse Model
Integrative Zoology, EarlyView.UCP1 inactivation of cetaceans in mice drives BAT whitening and iWAT hyperplasia, promoting fat accumulation for aquatic adaptation. Abstract Cetaceans possess thick blubber, a specialized adipose tissue essential for thermal insulation, a streamlined body form, energy storage, and buoyancy. However, the mechanisms that underpin this adaptation are not
Qian Zhang +5 more
wiley +1 more source