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BTK inhibitors (BTKi) are an established standard of care in CLL. The covalent BTKi ibrutinib, acalabrutinib and zanubrutinib bind to BTK C481 and are all susceptible to the C481S mutation. Non-covalent BTKi including pirtobrutinib overcome C481S resistance but are associated with multiple variant (non-C481) BTK mutations, including those associated with resistance to acalabrutinib and zanubrutinib (T474 codon and L528W mutations).
View Article and Find Full Text PDFA novel COL3A1 gene variant associated with sudden death due to spontaneous pneumothorax.
Forensic Sci Med Pathol
January 2025
Department of Laboratory Medicine and Pathobiology, Faculty of Medicine, University of Toronto, Toronto, ON, Canada.
Spontaneous pneumothorax (SP) is a condition defined by abnormal gas accumulation in the chest cavity. Mutations of the collagen type III alpha 1 chain, COL3A1 gene, are primarily linked to vascular Ehlers-Danlos syndrome (vEDS); however, they can also contribute to structural changes in the tissue, like bullae of the lungs. In this case report, we present a young, thinly built boy who died due to a spontaneous pneumothorax.
View Article and Find Full Text PDFStereospecific Resistance to N2-Acyl Tetrahydro-β-carboline Antimalarials Is Mediated by a PfMDR1 Mutation That Confers Collateral Drug Sensitivity.
ACS Infect Dis
January 2025
Department of Biochemistry and Molecular Biology, University of Georgia, Athens, Georgia 30602, United States.
Half the world's population is at risk of developing a malaria infection, which is caused by parasites of the genus . Currently, resistance has been identified to all clinically available antimalarials, highlighting an urgent need to develop novel compounds and better understand common mechanisms of resistance. We previously identified a novel tetrahydro-β-carboline compound, PRC1590, which potently kills the malaria parasite.
View Article and Find Full Text PDFReporting a Novel Gene Mutation in Glycogen Storage Disease Type VII (Tarui Disease).
Ann Indian Acad Neurol
November 2024
Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.
Understanding phage BX-1 resistance in AP-1 and the role of quorum-sensing regulation.
Microbiol Spectr
January 2025
Shanghai Public Health Clinical Center, Fudan University, Shanghai, China.
The marine ecosystem is characterized by a rich diversity of bacterial hosts and their phages. The propagation of phages is primarily limited by their ability to adsorb to host cells and is further challenged by various bacterial defense mechanisms. To fully realize the potential of phage therapy in aquaculture, a comprehensive understanding of phage-host interactions and their regulation is essential.
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