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The α-globin super-enhancer acts in an orientation-dependent manner.
Nat Commun
January 2025
Gene Regulation Laboratory, MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, OX3 9DS, Oxford, UK.
Individual enhancers are defined as short genomic regulatory elements, bound by transcription factors, and able to activate cell-specific gene expression at a distance, in an orientation-independent manner. Within mammalian genomes, enhancer-like elements may be found individually or within clusters referred to as locus control regions or super-enhancers (SEs). While these behave similarly to individual enhancers with respect to cell specificity, distribution and distance, their orientation-dependence has not been formally tested.
View Article and Find Full Text PDFAnthracyclines disaggregate and restore mutant p63 function: a potential therapeutic approach for AEC syndrome.
Cell Death Discov
January 2025
Cutaneous Biology Research Center, Massachusetts General Hospital and Harvard Medical School, Charlestown, MA, 02129, USA.
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome is a rare genetic disorder caused by mutations in the TP63 gene, which encodes a transcription factor essential for epidermal gene expression. A key feature of AEC syndrome is chronic skin erosion, for which no effective treatment currently exists. Our previous studies demonstrated that mutations associated with AEC syndrome lead to p63 protein misfolding and aggregation, exerting a dominant-negative effect.
View Article and Find Full Text PDFHealthy lifestyle before and during pregnancy to prevent childhood obesity: study protocol for a parallel group randomised trial - the PRE-STORK trial.
BMJ Open
January 2025
Clinical and Translational Research, Steno Diabetes Center Copenhagen, Herlev, Denmark
Introduction: The global prevalence of people living with overweight has tripled since 1975 and more than 40% of Danish women enter pregnancy being overweight. With the increasing rates of obesity observed in children, adolescents and adults, there is an urgent need for preventive measures. Risk factors for childhood obesity include maternal overweight or obesity before conception and excessive weight gain during pregnancy.
View Article and Find Full Text PDFDiscordance in acute gastrointestinal toxicity between synchrotron-based proton and linac-based electron ultra-high dose rate irradiation.
Int J Radiat Oncol Biol Phys
January 2025
Department of Radiation Physics, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA; The University of Texas MD Anderson Cancer Center UTHealth Houston Graduate School of Biomedical Sciences, Houston, Texas, USA. Electronic address:
Purpose: Proton FLASH has been investigated using cyclotron and synchrocyclotron beamlines but not synchrotron beamlines. We evaluated the impact of dose rate (ultra-high [UHDR] vs. conventional [CONV]) and beam configuration (shoot-through [ST] vs.
View Article and Find Full Text PDFBehind the software: The impact of Unobtrusiveness, Goal Setting and persuasive features on BMI.
Int J Med Inform
January 2025
Oulu Advanced Research on Service and Information Systems, University of Oulu, Linnanmaa campus, Pentti Kaiteran katu 1 90570 Oulu, Finland. Electronic address:
Background: Studies have demonstrated that interventions targeting weight loss and body mass index (BMI) reduction can be successful, although the specific factors that influence their effectiveness are still unclear. Behavior change support systems (BCSS) are an approach that aims to help users in their efforts to modify their behavior. A useful tool for assessing BCSS is the Persuasive Systems Design model (PSD), where different features and postulates can be employed.
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