This case demonstrates the essential contribution of the p110δ catalytic 21 domain in adaptive immunity function in a patient with expression of a kinase-dead p110δ mutant.
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http://dx.doi.org/10.1016/j.jaci.2018.10.005 | DOI Listing |
J Thromb Haemost
January 2025
Department of Life Sciences, Faculty of Science and Engineering, Manchester Metropolitan University, Manchester, United Kingdom; Discovery and Translational Science Department, Leeds Institute of Cardiovascular and Metabolic Medicine, Faculty of Medicine and Health, University of Leeds, Leeds, United Kingdom. Electronic address:
Background: The thromboxane A2 receptor (TPαR) plays an important role in the amplification of platelet responses during thrombosis. Receptor activity is regulated by internalization and receptor desensitization. The mechanism by which constitutive surface expression of the TPαR is regulated is unknown.
View Article and Find Full Text PDFSci Rep
December 2024
Department of Frontier Medicine, Institute of Medical Science, Graduate School of Medicine, St. Marianna University, Kawasaki, 2168511, Japan.
The overexpression of Polo-like kinase 1 (PLK1) is associated with poor clinical outcomes in various malignancies, making it an attractive target for anticancer therapies. Although recent studies suggest PLK1's involvement in homologous recombination (HR), the impact of its overexpression on HR remains unclear. In this study, we investigated the effect of PLK1 overexpression on HR using bioinformatics and experimental approaches.
View Article and Find Full Text PDFBiochem Biophys Res Commun
January 2025
Department of Pharmacology, School of Pharmaceutical Sciences, University of Shizuoka, 52-1 Yada, Suruga-ku, Shizuoka, Shizuoka, 422-8526, Japan.
Some isoforms of diacylglycerol (DAG) kinase (DGK), an enzyme converting DAG into phosphatidic acid, i.e., DGKα, γ and δ, have been reportedly involved in the regulation of pancreatic β-cell function.
View Article and Find Full Text PDFNeurobiol Dis
December 2024
Mater Research Institute-University of Queensland, Translational Research Institute, Woolloongabba, QLD 4102, Australia. Electronic address:
Amino acid substitutions in the kinase domain of the human CSF1R protein are associated with autosomal dominant adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP). To model the human disease, we created a disease-associated mutation (Glu631Lys; E631K) in the mouse Csf1r locus. Previous analysis demonstrated that heterozygous mutation (Csf1r) had a dominant inhibitory effect on CSF1R signaling in vitro and in vivo but did not recapitulate human disease pathology.
View Article and Find Full Text PDFPLoS One
November 2024
Reproductive Cancer Genetics Section, Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.
The ALK5 (TGFBR1) receptor serine/threonine kinase transduces TGF-β (Transforming Growth Factor beta) signaling to activate SMAD2/3-dependent and -independent pathways. Here, we aimed to determine the functional consequences of ALK5 mutations in human endometrial cancer (EC). Somatic mutation data were retrieved from publicly available databases.
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