Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5477626 | PMC |
http://dx.doi.org/10.3324/haematol.2016.163089 | DOI Listing |
Int J Mol Sci
December 2024
Department of Medical Oncology, Institute of Science Tokyo, 1-5-45 Yushima, Bunkyo-Ku, Tokyo 113-8510, Japan.
Immune checkpoint inhibitors (ICIs) are effective in treating recurrent/metastatic head and neck squamous cell carcinoma (HNSCC), but only 20% of patients achieve durable responses. This study evaluated circulating tumor DNA (ctDNA) as a real-time biomarker for monitoring treatment response in HNSCC. The SHIZUKU-HN study prospectively collected and analyzed serial plasma samples (n = 27) from HNSCC patients undergoing ICIs, using Guardant360 to assess ctDNA variant allele frequency (VAF) and genetic mutations.
View Article and Find Full Text PDFPlants (Basel)
December 2024
Department of Earth and Environmental Sciences, University of Pavia, Via S. Epifanio 14, 27100 Pavia, Italy.
Paramutation, a specific epigenetic phenomenon first identified in by Alexander Brink in the 1950s, has since been observed in different plant and animal species. What sets paramutation apart from other gene silencing processes is its ability for one silenced allele (referred to as paramutagenic) to silence another allele (paramutable) in trans. The resultant silenced allele (paramutated) remains stable across generations, even after separating from the paramutagenic allele, and acquires paramutagenic properties itself.
View Article and Find Full Text PDFAm J Med Genet A
January 2025
Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Australia.
We describe the phenotypic and genotypic spectrum of patients with vascular anomaly (VA) in a paediatric multi-disciplinary VA clinic. We measured the clinical utility of genotyping by comparing pre and posttest diagnosis and management. A 46-month retrospective analysis occurred for 250 patients offered genetic testing in the VA clinic.
View Article and Find Full Text PDFSci Rep
January 2025
Pharmacy Department, University Clinical Hospital of Santiago de Compostela (SERGAS), 15706, Santiago de Compostela, Spain.
Aripiprazole (ARI) is an atypical antipsychotic which is a substrate of P-glycoprotein (P-gp), a transmembrane glycoprotein that plays a crucial role in eliminating potentially harmful compounds from the organism. ARI once-monthly (AOM) is a long-acting injectable form which improves treatment compliance. Genetic polymorphisms in ABCB1 may lead to changes in P-gp function, leading to individual differences in drug disposition.
View Article and Find Full Text PDFJ Neurosci
January 2025
German Center for Neurodegenerative Diseases (DZNE), Magdeburg 39120, Germany
The precuneus is a site of early amyloid-beta (Aβ) accumulation. Previous cross-sectional studies reported increased precuneus fMRI activity in older adults with mild cognitive deficits or elevated Aβ. However, longitudinal studies in early Alzheimer's disease (AD) are lacking and the relationship to the Apolipoprotein-E () genotype is unclear.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!