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http://dx.doi.org/10.1038/ng0205-112a | DOI Listing |
JMIR Form Res
January 2025
Department of Biomedical Informatics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Background: The iAide2 (Tokai) physical activity monitoring system includes diverse measurements and wireless features useful to researchers. The iAide2's sleep measurement capabilities have not been compared to validated sleep measurement standards in any published work.
Objective: We aimed to assess the iAide2's sleep duration and total sleep time (TST) measurement performance and perform calibration if needed.
Elife
January 2025
Department of Neurology, Baylor College of Medicine, Houston, United States.
variants in children with neurodevelopmental impairment are difficult to assess due to their heterogeneity and unclear pathogenic mechanisms. We describe a child with neonatal-onset epilepsy, developmental impairment of intermediate severity, and G256W heterozygosity. Analyzing prior KCNQ2 channel cryoelectron microscopy models revealed G256 as a node of an arch-shaped non-covalent bond network linking S5, the pore turret, and the ion path.
View Article and Find Full Text PDFJ Neurotrauma
January 2025
Department of Physical Medicine & Rehabilitation, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
Traumatic brain injury (TBI) and subsequent post-traumatic epilepsy (PTE) often impair daily activities and mental health (MH), which contribute to long-term TBI-related disability. PTE also affects driving capacity, which impacts functional independence, community participation, and satisfaction with life (SWL). However, studies evaluating the collective impact of PTE on multidimensional outcomes are lacking.
View Article and Find Full Text PDFJ Natl Cancer Inst
January 2025
Translational Radiobiology Group, Division of Cancer Sciences, University of Manchester, The Christie NHS Foundation Trust, Manchester, United Kingdom.
Purpose: Overlapping genes are involved with rheumatoid arthritis (RA) and DNA repair pathways. Therefore, we hypothesised that patients with a high polygenic risk score (PRS) for RA will have an increased risk of radiotherapy (RT) toxicity given the involvement of DNA repair.
Methods: Primary analysis was performed on 1494 prostate cancer, 483 lung cancer and 1820 breast cancer patients assessed for development of RT toxicity in the REQUITE study.
Appl Biochem Biotechnol
January 2025
Computational Biology Lab, Department of Genetic Engineering, School of Bioengineering, SRM Institute of Science and Technology, SRM Nagar, Kattankulathur, 603203, Tamil Nadu, India.
JAK1, a key regulator of multiple oncogenic pathways, is a sought-out target, and its expression in immune cells and tumour-infiltrating lymphocytes (TILs) is associated with a favorable prognosis in breast cancer. JAK1 activates IL-6 via ERBB2 receptor tyrosine kinase signalling and promotes metastatic cancer and STAT3 activation in breast cancer cells. Hence, targeting JAK1 in breast cancer is being explored as a potential therapeutic strategy.
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