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Cell lines represent convenient models to elucidate specific causes of multigenetic and pluricausal diseases, to test breakthrough regenerative technologies. Most commonly used cell lines surpass diploid cells in their accessibility for delivery of large DNA molecules and genome editing, but the main obstacles for obtaining cell models with knockout-targeted protein from aneuploid cells are multiple allele copies and karyotype/phenotype heterogeneity. In the study, we report an original approach to CRISPR-/Cas9-mediated genome modification of aneuploid cell cultures to create functional cell models, achieving highly efficient targeted protein knockout and avoiding "clonal effect" (for the first time to our knowledge).
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http://dx.doi.org/10.1089/ten.TEC.2018.0365 | DOI Listing |
BMC Pulm Med
September 2025
Division of Cellular Pneumology, Priority Area Infections, Research Center Borstel, Leibniz Lung Center, Borstel, 23845, Germany.
Background: Volatile anesthetics are gaining recognition for their benefits in long-term sedation of mechanically ventilated patients with bacterial pneumonia and acute respiratory distress syndrome. In addition to their sedative role, they also exhibit anti-bacterial and anti-inflammatory properties, though the mechanisms behind these effects remain only partially understood. In vitro studies examining the prolonged impact of volatile anesthetics on bacterial growth, inflammatory cytokine response, and surfactant proteins - key to maintaining lung homeostasis - are still lacking.
View Article and Find Full Text PDFBMC Mol Cell Biol
September 2025
School of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.
Retinitis pigmentosa (RP) affects around 1 in 4000 individuals and represents approximately 25% of cases of vision loss in adults, through death of retinal rod and cone photoreceptor cells. It remains a largely untreatable disease, and research is needed to identify potential targets for therapy. Mutations in 94 different genes have been identified as causing RP, including AGBL5 which encodes the main deglutamylase that regulates and maintains functional levels of cilia tubulin glutamylation, which is essential to initiate ciliogenesis, maintain cilia stability and motility.
View Article and Find Full Text PDFClin Rheumatol
September 2025
Immunology Market Access, Johnson & Johnson, Horsham, PA, USA.
Introduction/objective: Oral glucocorticoids (OGC) are conventionally used as first-line treatment for dermatomyositis (DM) and polymyositis (PM). This study evaluated clinical and economic outcomes associated with long-term (LT) OGC use in DM/PM.
Methods: Adults with ≥ 2 medical claims of DM/PM 30‒365 days apart from January 1, 2016, to December 31, 2022, and ≥ 1 diagnosis code of a physician specialty of interest were selected from the MarketScan Commercial and Medicare Supplemental databases.
Calcif Tissue Int
September 2025
FirmoLab, Fondazione F.I.R.M.O. Onlus and Stabilimento Chimico Farmaceutico Militare (SCFM), 50141, Florence, Italy.
X-linked hypophosphatemia (XLH) is a rare and progressive disease, due to inactivating mutations in the phosphate-regulating endopeptidase homolog X-linked (PHEX) gene. These pathogenic variants result in elevated circulating levels of fibroblast growth factor 23 (FGF23), responsible for the main clinical manifestations of XLH, such as hypophosphatemia, skeletal deformities, and mineralization defects. However, XLH also involves muscular disorders (muscle weakness, pain, reduced muscle density, peak strength, and power).
View Article and Find Full Text PDFBr J Cancer
September 2025
Institute of Life Sciences, Bhubaneswar, Odisha, India.
Background: Docetaxel is the most common chemotherapy regimen for several neoplasms, including advanced OSCC (Oral Squamous Cell Carcinoma). Unfortunately, chemoresistance leads to relapse and adverse disease outcomes.
Methods: We performed CRISPR-based kinome screening to identify potential players of Docetaxel resistance.