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The Splice Index as a prognostic biomarker of strength and function in myotonic dystrophy type 1.
J Clin Invest
January 2025
Center for Inherited Myology Research, Virginia Commonwealth University, Richmond, United States of America.
Background: Myotonic dystrophy type 1 (DM1) is a multisystemic, CTG repeat expansion disorder characterized by a slow, progressive decline in skeletal muscle function. A biomarker correlating RNA mis-splicing, the core pathogenic disease mechanism, and muscle performance is crucial for assessing response to disease-modifying interventions. We evaluated the Myotonic Dystrophy Splice Index (SI), a composite RNA splicing biomarker incorporating 22 disease-specific events, as a potential biomarker of DM1 muscle weakness.
View Article and Find Full Text PDFExternal Validation of a 5-Factor Risk Model for Breast Cancer-Related Lymphedema.
JAMA Netw Open
January 2025
Institute of Medical Science, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.
Importance: Secondary lymphedema is a common, harmful side effect of breast cancer treatment. Robust risk models that are externally validated are needed to facilitate clinical translation. A published risk model used 5 accessible clinical factors to predict the development of breast cancer-related lymphedema; this model included a patient's mammographic breast density as a novel predictive factor.
View Article and Find Full Text PDFA novel ubiquitination-related gene signature for overall survival prediction in patients with liver hepatocellular carcinoma.
Discov Oncol
January 2025
Medical Research Institute, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), Southern Medical University, Guangzhou, 510080, China.
Liver hepatocellular carcinoma (LIHC) is a highly heterogeneous disease, necessitating the discovery of novel biomarkers to enhance individualized treatment approaches. Recent research has shown the significant involvement of ubiquitin-related genes (UbRGs) in the progression of LIHC. However, the prognostic value of UbRGs in LIHC has not been investigated.
View Article and Find Full Text PDFNOL-7 serves as a potential prognostic-related biomarker for hepatocellular carcinoma.
Discov Oncol
January 2025
School of Medicine, Southeast University, Nanjing, Jiangsu, China.
Background: Nucleolar protein 7 (NOL7), a specific protein found in the nucleolus, is crucial for maintaining cell division and proliferation. While the involvement of NOL7 in influencing the unfavorable prognosis of metastatic melanoma has been reported, its significance in predicting the prognosis of patients with Hepatocellular Carcinoma (HCC) remains unclear.
Methods: Aberrant expression of NOL7 in HCC and its prognostic value were evaluated using multiple databases, including TCGA, GTEx, Xiantao Academic, HCCDB, UALCAN, TISCH, and STRING.
A Review of Circulating Tumor DNA (ctDNA) in Pancreatic Cancer: Ready for the Clinic?
J Gastrointest Cancer
January 2025
Ruesch Center for the Cure of Gastrointestinal Cancers, Lombardi Comprehensive Cancer Center, Georgetown University, Washington, DC, USA.
Pancreatic ductal adenocarcinoma is a devastating disease which is associated with an increase in cancer-related death in the USA. The minority of patients are cured by surgery alone and typically require adjuvant chemotherapy in order to improve clinical outcomes. Circulating tumor DNA (ctDNA) is an emerging technology whereby microscopic levels of minimal residual disease (MRD) can be detected in the bloodstream.
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