Results 231 to 240 of about 2,533,574 (314)

Strain-specific detection of Mycoplasma gallisepticum: A duplex qPCR assay for vaccine efficacy and infection surveillance. [PDF]

Poult Sci
Fan P, Liu Z, Xu Y, Guo M, Zhang C, Bo Z, Wu Y, Zhang X.   +7 more
europepmc   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Pharmacokinetics of 5-Fluorouracil in Patients Treated With Capecitabine Carrying the c.1236G>A <i>DPYD</i> Variant Allele. [PDF]

JCO Precis Oncol
Heersche N, Knikman JE, Deenen MJ, Rosing H, van Schaik RHN, Beijnen JH, Schellens JHM, Gelderblom H, Guchelaar HJ, Swen JJ, Cats A, Mathijssen RHJ, Jacobs BAW.   +12 more
europepmc   +1 more source

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs, Marcel Naumann, Annaliis Lehto, Hanna Schön, Jens Kurth, Johannes Prudlo, Andreas Hermann, Elisabeth Kasper   +7 more
wiley   +1 more source

Metagenomic analysis of the DNA virome communities in swine lungs. [PDF]

Front Microbiol
Liu Z, Xiahou Y, Li J, Wu F, Fan Y, Liu R, Zhou M, Ding Z, Zhang Y, Chen C, Huang L, Ai H.   +11 more
europepmc   +1 more source

β‐Catenin/c‐Myc Axis Modulates Autophagy Response to Different Ammonia Concentrations

Advanced Biology, Volume 9, Issue 3, March 2025.
Ammonia, detoxified by the liver into urea and glutamine, impacts autophagy differently at varying levels. Low ammonia activates autophagy via c‐Myc and β‐catenin, while high levels suppress it. Using Huh7 cells and Spf‐ash mice, c‐Myc's role in cytoprotective autophagy is revealed, offering insights into hyperammonemia and potential therapeutic ...
S. Sergio, B. Spedicato, G. Corallo, A. Inguscio, M. Greco, D. Musarò, D. Vergara, A. F. Muro, G. De Sabbata, L. R. Soria, N. Brunetti Pierri, M. Maffia   +11 more
wiley   +1 more source

Potential Role of Captive Environments in Reshaping the Compositions of Pathogenic Gut Bacteria in <i>Equus</i> Species. [PDF]

Biology (Basel)
Li H, Hou X, Han S, Xie S, Li Y, Wang X.
europepmc   +1 more source

Feasibility of Nitrogen as a Carrier Gas for Inconel Cold Spray in Hydropower Application

Advanced Engineering Materials, EarlyView.
N2, despite being nearly two orders of magnitude cheaper than He, is a feasible carrier gas for cold spray Inconel coatings in hydropower repair applications when higher gas temperature and pressure are used. Reducing powder size significantly improved cavitation resistance, while the addition of fine chromium carbide particles further enhanced erosion
Tianhao Wang, Mayur Pole, Tingkun Liu, Kenneth A. Ross, Christopher B. Smith   +4 more
wiley   +1 more source

Bioluminescence in the Edible Mushroom <i>Hypsizygus marmoreus</i> by Transformation with a Fungal Luciferase Gene. [PDF]

J Fungi (Basel)
Zhou X, Li Y, Wu Y, Chen R, Tang L, Zhou C, Wan J, Bao D, Yang R, Shang J.   +9 more
europepmc   +1 more source