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Change surface regression for nonlinear subgroup identification with application to warfarin pharmacogenomics data.
Biometrics
January 2025
Department of Statistics and Data Science, National University of Singapore, Singapore 117546, Singapore.
Pharmacogenomics stands as a pivotal driver toward personalized medicine, aiming to optimize drug efficacy while minimizing adverse effects by uncovering the impact of genetic variations on inter-individual outcome variability. Despite its promise, the intricate landscape of drug metabolism introduces complexity, where the correlation between drug response and genes can be shaped by numerous nongenetic factors, often exhibiting heterogeneity across diverse subpopulations. This challenge is particularly pronounced in datasets such as the International Warfarin Pharmacogenetic Consortium (IWPC), which encompasses diverse patient information from multiple nations.
View Article and Find Full Text PDFSkin disease-associated GJB4 variants differentially influence connexin stability, cell viability and channel function.
J Physiol
January 2025
Department of Physiology and Pharmacology, University of Western Ontario, London, ON, Canada.
Here we characterize seven Cx30.3 gene variants (R22H, S26Y, P61R, C86S, E99K, T130M and M190L) clinically associated with the rare skin disorder erythrokeratodermia variabilis et progressiva (EKVP) in tissue-relevant and differentiation-competent rat epidermal keratinocytes (REKs). We found that all variants, when expressed alone or together with wildtype (WT) Cx30.
View Article and Find Full Text PDFAssociation between the gene polymorphism-determined earwax properties and external auditory canal microbiota in healthy adults.
Microbiol Spectr
January 2025
Department of Pharmacology, Showa University Graduate School of Medicine, Shinagawa, Tokyo, Japan.
Unlabelled: The concept of genome-microbiome interactions, in which the microenvironment determined by host genetic polymorphisms regulates the local microbiota, is important in the pathogenesis of human disease. In otolaryngology, the resident bacterial microbiota is reportedly altered in non-infectious ear diseases, such as otitis media pearls and exudative otitis media. We hypothesized that a single-nucleotide polymorphism in the ATP-binding cassette sub-family C member 11 () gene, which determines earwax properties, regulates the ear canal microbiota.
View Article and Find Full Text PDFAntagonisation of Prokineticin Receptor-2 Attenuates Preeclampsia Symptoms.
J Cell Mol Med
January 2025
Interdisciplinary Research Institute of Grenoble, IRIG-Biosanté, University Grenoble Alpes, INSERM, CEA, UMR 1292, Grenoble, France.
Preeclampsia (PE) is the most threatening pathology of human pregnancy. Placenta from PE patients releases harmful factors that contribute to the exacerbation of the disease. Among these factors is the prokineticin1 (PROK1) and its receptor, PROKR2 that we identified as a mediators of PE.
View Article and Find Full Text PDFAssociation and mechanism of montelukast on sleep disorders: insights from NHANES 2005-2018 data analysis and a network pharmacology study.
J Asthma
January 2025
School of Pharmacy, Hubei University of Chinese Medicine, Wuhan, China.
Background: Studies have suggested associations between montelukast and increased risks of sleep disorders, including overall sleeping problems and insomnia. However, the results of observational studies are not consistent. Understanding these associations is crucial, particularly in patients solely diagnosed with allergic rhinitis, where montelukast use remains prevalent.
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