Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.mayocp.2014.04.008 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Evaluating the impact of modeling choices on the performance of integrated genetic and clinical models.
Genet Med
December 2024
Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN; Center for Digital Genomic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN; Department of Psychiatry and Behavioral Sciences, Vanderbilt University Medical Center, Nashville, TN. Electronic address:
Purpose: The value of genetic information for improving the performance of clinical risk prediction models has yielded variable conclusions. Many methodological decisions have the potential to contribute to differential results. We performed multiple modeling experiments integrating clinical and demographic data from electronic health records (EHR) with genetic data to understand which decisions may affect performance.
View Article and Find Full Text PDFInactivation of the SLC25A1 gene during embryogenesis induces a unique senescence program controlled by p53.
Cell Death Differ
December 2024
Georgetown University Medical Center, Lombardi Comprehensive Cancer Center, Washington, D.C., USA.
Germline inactivating mutations of the SLC25A1 gene contribute to various human disorders, including Velocardiofacial (VCFS), DiGeorge (DGS) syndromes and combined D/L-2-hydroxyglutaric aciduria (D/L-2HGA), a severe systemic disease characterized by the accumulation of 2-hydroxyglutaric acid (2HG). The mechanisms by which SLC25A1 loss leads to these syndromes remain largely unclear. Here, we describe a mouse model of SLC25A1 deficiency that mimics human VCFS/DGS and D/L-2HGA.
View Article and Find Full Text PDFPan-cancer association of a mitochondrial function score with genomic alterations and clinical outcome.
Sci Rep
December 2024
Department of Laboratory Medicine, The Affiliated Hospital of Southwest Medical University, Sichuan Province Engineering Technology Research Center of Molecular Diagnosis of Clinical Diseases, Molecular Diagnosis of Clinical Diseases Key Laboratory of Luzhou, Luzhou, Sichuan, China.
Mitochondria are pivotal in cellular energy metabolism and have garnered significant attention for their roles in cancer progression and therapy resistance. Despite this, the functional diversity of mitochondria across various cancer types remains inadequately characterized. This study seeks to fill this knowledge gap by introducing and validating MitoScore-a novel metric designed to quantitatively assess mitochondrial function across a wide array of cancers.
View Article and Find Full Text PDFPLK1 overexpression suppresses homologous recombination and confers cellular sensitivity to PARP inhibition.
Sci 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 PDFFeasibility and clinical utility of endoscopic ultrasound-guided tissue acquisition for comprehensive genomic profiling in pancreatic cancer: A systematic review and meta-analysis.
Pancreatology
December 2024
Department of Internal Medicine, Eunpyeong St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, South Korea. Electronic address:
Background: Endoscopic ultrasound-guided tissue acquisition (EUS-TA) has become essential for diagnosing pancreatic ductal adenocarcinoma (PDAC) and is increasingly utilized for comprehensive genome profiling (CGP) to advance precision medicine. This systematic review and meta-analysis assess the feasibility and clinical utility of EUS-TA samples for CGP in PDAC.
Methods: We conducted a thorough systematic literature search in PubMed, EMBASE, and the Cochrane Library up to October 2023.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!