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When "loss-of-function" means proteostasis burden: Thinking again about coding DNA variants.
Am J Hum Genet
January 2025
Department of Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.
Each human genome has approximately 5 million DNA variants. Even for complete loss-of-function variants causing inherited, monogenic diseases, current understanding based on gene-specific molecular function does not adequately predict variability observed between people with identical mutations or fluctuating disease trajectories. We present a parallel paradigm for loss-of-function variants based on broader consequences to the cell when aberrant polypeptide chains of amino acids are translated from mutant RNA to generate mutated proteins.
View Article and Find Full Text PDFThe Interaction of Racial-Ethnic and Economic Concentration and its Association with Premature Mortality in U.S. Neighborhoods.
J Racial Ethn Health Disparities
January 2025
Center for Population Health Sciences, Stanford University School of Medicine, Stanford, CA, USA.
Recent research shows a significant link between race-ethnicity and income concentration and premature death rates in the U.S. However, most studies focus on Black-White residential concentration, overlooking racial-ethnic diversity.
View Article and Find Full Text PDFPractices supporting cue-based breastfeeding of preterm infants in neonatal intensive care units across Europe.
Int Breastfeed J
January 2025
School of Health and Welfare, Dalarna University, Falun, Sweden.
Background: Emerging knowledge about supportive neurodevelopmental neonatal care shows the need for an individual approach to establish breastfeeding. However, evidence on how cue-based breastfeeding is supported in neonatal intensive care units (NICUs) is scarce. Therefore, the aim was to describe supporting practices for cue-based breastfeeding.
View Article and Find Full Text PDFBio particle swarm optimization and reinforcement learning algorithm for path planning of automated guided vehicles in dynamic industrial environments.
Sci Rep
January 2025
Xiamen Topstar Co., Ltd., Xiamen, 361000, Fujian, China.
Automated guided vehicles play a crucial role in transportation and industrial environments. This paper presents a proposed Bio Particle Swarm Optimization (BPSO) algorithm for global path planning. The BPSO algorithm modifies the equation to update the particles' velocity using the randomly generated angles, which enhances the algorithm's searchability and avoids premature convergence.
View Article and Find Full Text PDFModifying reaction time tasks parameters in the automated IntelliCage identifies heightened impulsivity and impaired attention in the 3xTg-AD model of Alzheimer's disease.
Front Aging Neurosci
December 2024
Arizona State University-Banner Neurodegenerative Disease Research Center at the Biodesign Institute, Arizona State University, Tempe, AZ, United States.
Background: The 3xTg-AD transgenic mouse model of Alzheimer's disease (AD) is an important tool to investigate the relationship between development of pathological amyloid-β (Aβ) and tau, neuroinflammation, and cognitive impairments. Traditional behavioral tasks assessing aspects of learning and memory, such as mazes requiring spatial navigation, unfortunately suffer from several shortcomings, including the stress of human handling and not probing species-typical behavior. The automated IntelliCage system was developed to circumvent such issues by testing mice in a social environment while measuring multiple aspects of cognition.
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