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| http://dx.doi.org/10.1128/EC.00107-09 | DOI Listing |
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Latest clinical frontiers related to autism diagnostic strategies.
Cell Rep Med
January 2025
DiMePRe-J-Department of Precision and Rigenerative Medicine-Jonic Area, University of Bari "Aldo Moro", Bari, Italy.
The diagnosis of autism is currently based on the developmental history, direct observation of behavior, and reported symptoms, supplemented by rating scales/interviews/structured observational evaluations-which is influenced by the clinician's knowledge and experience-with no established diagnostic biomarkers. A growing body of research has been conducted over the past decades to improve diagnostic accuracy. Here, we provide an overview of the current diagnostic assessment process as well as of recent and ongoing developments to support diagnosis in terms of genetic evaluation, telemedicine, digital technologies, use of machine learning/artificial intelligence, and research on candidate diagnostic biomarkers.
View Article and Find Full Text PDFPrenatal gene editing for neurodevelopmental diseases: Ethical considerations.
Am J Hum Genet
January 2025
Department of Social Medicine and Center for Bioethics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Neurodevelopmental diseases (NDDs) are notoriously difficult to treat because clinical symptoms stem from developmental processes that begin before birth. Prenatal gene editing could fill the treatment gap for NDDs by targeting and permanently correcting the genetic variants that underlie these pathogenic developmental processes. At the same time, there is a risk of unintended edits to the fetus or the pregnant person that could result in serious adverse consequences that are difficult, if not impossible, to undo.
View Article and Find Full Text PDFPD-L1-CD80 interactions are required for intracellular signaling necessary for dendritic cell migration.
Sci Adv
January 2025
Department of Medicine, Division of Gastroenterology and Hepatology, University of Colorado School of Medicine, Aurora, CO, USA.
Programmed cell death protein 1 (PD-1) and programmed death ligand 1 (PD-L1) interactions are targets for immunotherapies aimed to reinvigorate T cell function. Recently, it was documented that PD-L1 regulates dendritic cell (DC) migration through intracellular signaling events. In this study, we find that both preclinical murine and clinically available human PD-L1 antibodies limit DC migration.
View Article and Find Full Text PDFAntibiotic-derived approaches in cancer therapy: effectiveness of ikarugamycin in hexokinase-2 inhibition, tissue factor modulation, and metabolic regulation in breast cancer.
Anticancer Drugs
January 2025
Department of Biochemistry, Institute of Health Science.
We aimed to explore the role of ikarugamycin (IKA) in breast cancer, its connection with hexokinase-2 (HK-2) repression, and tissue factor (TF). This study sought to extend the role of HK-2 as a TF activator in a comprehensive analysis of these interactions from the enzyme, gene, and protein levels. The investigation was performed with MDA-MB-231 and MCF-7 breast cancer lines.
View Article and Find Full Text PDFIdentification of Functionally-Relevant Lentivirus Integration Sites in an Insertional Mutagenesis Cell Library.
J Vis Exp
January 2025
State Key Laboratory of Cellular Stress Biology, School of Life Sciences, Xiamen University;
The extent of functional sequences within the human genome is a pivotal yet debated topic in biology. Although high-throughput reverse genetic screens have made strides in exploring this, they often limit their scope to known genomic elements and may introduce non-specific effects. This underscores the urgent need for novel functional genomics tools that enable a deeper, unbiased understanding of genome functionality.
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