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Peripheral blood mononuclear cells for reprogramming in this work were donated by a girl with clinically and genetically diagnosed multiminicore disease harboring compound heterozygote mutations of RYR1 gene. Induced pluripotent stem cells (iPSCs) were obtained by non-integrating episomal vectors containing OCT4, SOX2, KLF4, BCL-XL and c-MYC. The iPSC line (SDQLCHi025-A) presented pluripotent cell morphology, high mRNA levels of pluripotency markers, differentiation potential in vitro, a normal karyotype, and carrying RYR1 gene mutations.
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http://dx.doi.org/10.1016/j.scr.2020.101775 | DOI Listing |
Pestic Biochem Physiol
November 2025
Newcastle University, School of Natural and Environmental Sciences, Newcastle upon Tyne, UK NE1 7RU. Electronic address:
RNA interference (RNAi) is an endogenous eukaryote viral defence mechanism representing a unique form of post-transcriptional gene silencing that can be induced via the exongenous application of dsRNA. Due to its high specificity, dsRNA-based biopesticides are being developed to control pest insects. Whilst many lepidopteran species are recalcitrant to RNAi, Tuta absoluta, a polyphagous insect responsible for extensive crop damage, is sensitive.
View Article and Find Full Text PDFGenes (Basel)
August 2025
Department of Anesthesiology and Critical Care, Hiroshima University, Hiroshima 34-8551, Japan.
Background: Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle triggered by certain anesthetic agents. While Ryanodine Receptor 1 () and Calcium Voltage-Gated Channel Subunit Alpha1 S () are well-established susceptibility genes, the complete genetic basis of MH remains unclear, particularly in Asian populations.
Methods: We conducted gene panel testing targeting 24 calcium-related genes in 338 individuals from 247 Japanese families with suspected or confirmed MH.
Animals (Basel)
July 2025
Dipartimento di Agricoltura, Alimentazione e Ambiente, University of Catania, 95123 Catania, Italy.
Nero Siciliano (NS) is an autochthonous pig breed reared in northeastern Sicily; despite its high-quality meat products, NS is currently endangered. This study aimed to evaluate the genetic variability at nine loci within candidate genes for meat traits-Melanocortin 4 Receptor (), Ryanodine Receptor 1 (), Class 3 Phosphoinositide 3-Kinase () and Leptin ()-to provide useful information for preservation and exploitation of the NS pig breed. Distribution of the genetic variants was assessed in a representative sample of 87 pigs (18 boars and 69 sows) collected in nine farms located in the original breeding area.
View Article and Find Full Text PDFPharmacogenomics J
July 2025
Basel Pharmacoepidemiology Unit, Division of Clinical Pharmacy and Epidemiology, Department of Pharmaceutical Sciences, University of Basel, Basel, Switzerland.
Pharmacogenetics (PGx) is increasingly implemented in the adult population, but its potential in children remains uncertain. The aim of this study was to investigate PGx drug utilization in children in Switzerland, using Helsana claims data between 2017 and 2021. We identified 82 drugs with paediatric guideline annotations associated with variants in 24 genes from the Pharmacogenomics Knowledgebase.
View Article and Find Full Text PDFSci Rep
July 2025
Bioinformatics and Integrative Omics Laboratory, Department of Genetic Engineering, School of Bioengineering, College of Engineering and Technology, SRM Institute of Science and Technology, Kattankulathur, Chengalpattu, Tamil Nadu, 603203, India.
Cotton production is negatively impacted by many insect pests from multiple orders, resulting in significant agronomic and economic losses. This study utilized a comparative transcriptomic methodology to discover conserved gene targets with potential applications in pest management across four insect orders that infest cotton: Hemiptera, Lepidoptera, Orthoptera, and Thysanoptera. A total of 104 publicly available RNA-Seq datasets, representing 17 pest species were de novo assembled in two ways, first was classified by read length (PE100 and PE150) and secondly as species-specific transcriptomes, and their qualities were assessed (alignment ≥ 90%, BUSCO ≥ 80%).
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