The fruit fly is a highly tractable animal model to study various human diseases [...].
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http://dx.doi.org/10.3390/ijms23084203 | DOI Listing |
Hum Genomics
January 2025
Population Health Program, QIMR Berghofer Medical Research Institute, Herston, QLD, 4006, Australia.
Background: TP53 variant classification benefits from the availability of large-scale functional data for missense variants generated using cDNA-based assays. However, absence of comprehensive splicing assay data for TP53 confounds the classification of the subset of predicted missense and synonymous variants that are also predicted to alter splicing. Our study aimed to generate and apply splicing assay data for a prioritised group of 59 TP53 predicted missense or synonymous variants that are also predicted to affect splicing by either SpliceAI or MaxEntScan.
View Article and Find Full Text PDFCancer Cell Int
January 2025
Institute for Genome Engineered Animal Models of Human Diseases, National Center of Genetically Engineered Animal Models for International Research, Dalian Medical University, 9 West Section Lvshun South Road, Dalian, 116044, China.
Clear cell renal cell carcinoma (ccRCC) is a globally severe cancer with an unfavorable prognosis. PANoptosis, a form of cell death regulated by PANoptosomes, plays a role in numerous cancer types. However, the specific roles of genes associated with PANoptosis in the development and advancement of ccRCC remain unclear.
View Article and Find Full Text PDFBMC Health Serv Res
January 2025
ORCHID Centre for Outcomes and Experience Research in Child Health, Illness and Disability Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Background: During COVID-19 pandemic, a rapid readjustment to continued delivery of healthcare was required. Redeployment is an intentional process to mobilise human resources by reassigning a healthcare worker to a new role or new work location, to achieve sustainable delivery of patient care. We report redeployment experiences of staff from a specialist children's hospital during first and second waves of the United Kingdom COVID-19 pandemic.
View Article and Find Full Text PDFBMC Health Serv Res
January 2025
Institute for Health Services Research and Clinical Epidemiology, Faculty of Medicine, Philipps-University Marburg, Marburg, Germany.
Background: The COVID-19 pandemic entailed a global health crisis, significantly affecting medical service delivery in Germany as well as elsewhere. While intensive care capacities were overloaded by COVID cases, not only elective cases but also non-COVID cases requiring urgent treatment unexpectedly decreased, potentially leading to a deterioration in health outcomes. However, these developments were only uncovered retrospectively.
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