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Genetic coupling of enhancer activity and connectivity in gene expression control.
Nat Commun
January 2025
MRC Laboratory of Medical Sciences, London, UK.
Gene enhancers often form long-range contacts with promoters, but it remains unclear if the activity of enhancers and their chromosomal contacts are mediated by the same DNA sequences and recruited factors. Here, we study the effects of expression quantitative trait loci (eQTLs) on enhancer activity and promoter contacts in primary monocytes isolated from 34 male individuals. Using eQTL-Capture Hi-C and a Bayesian approach considering both intra- and inter-individual variation, we initially detect 19 eQTLs associated with enhancer-eGene promoter contacts, most of which also associate with enhancer accessibility and activity.
View Article and Find Full Text PDFPaediatric strategy forum for medicinal product development in diffuse midline gliomas in children and adolescents ACCELERATE in collaboration with the European Medicines Agency with participation of the Food and Drug Administration.
Eur J Cancer
January 2025
ACCELERATE, Europe; Gustave Roussy Cancer Centre, Paris, France.
Fewer than 10 % of children with diffuse midline glioma (DMG) survive 2 years from diagnosis. Radiation therapy remains the cornerstone of treatment and there are no medicinal products with regulatory approval. Although the biology of DMG is better characterized, this has not yet translated into effective treatments.
View Article and Find Full Text PDFVistla: identifying influence paths with information theory.
Bioinformatics
January 2025
Interdisciplinary Centre for Mathematical and Computational Modelling, University of Warsaw, Warsaw, 02-106, Poland.
Motivation: It is a challenging task to decipher the mechanisms of a complex system from observational data; especially in biology, where systems are sophisticated, measurements coarse and multi-modality is a common trait. The typical approaches of inferring a network of relationships between system's components struggle with the quality and feasibility of estimation, as well as with the interpretability of the results they yield.Said issues can be avoided, however, when dealing with a simpler problem of tracking only the influence paths, defined as circuits relying the information of an experimental perturbation as it spreads through the system.
View Article and Find Full Text PDFAn Integrative, Non-Pharmacological Pain Management Approach In Severe Lumbar Spine Degeneration: A Case Report.
Integr Med (Encinitas)
December 2024
Borandi Acupuncture, Saint George, UT.
Introduction: Chronic low back pain (CLBP), or low back pain lasting greater than 12 weeks, is a prevalent condition that profoundly impacts the quality of life in affected individuals. Traditional treatments - such as physical therapy, medications, injections, minimally invasive procedures, and surgery - often prove ineffective in a considerable number of cases, particularly when utilized as singular modalities. Given the complex biopsychosocial nature of CLBP, a multi-modality approach tailored to each patients' unique needs is essential.
View Article and Find Full Text PDFDeep learning in 3D cardiac reconstruction: a systematic review of methodologies and dataset.
Med Biol Eng Comput
January 2025
Department of Computer Science and Engineering, Shri Shankaracharya Institute of Professional Management and Technology, Raipur, (C.G.), India.
This study presents an advanced methodology for 3D heart reconstruction using a combination of deep learning models and computational techniques, addressing critical challenges in cardiac modeling and segmentation. A multi-dataset approach was employed, including data from the UK Biobank, MICCAI Multi-Modality Whole Heart Segmentation (MM-WHS) challenge, and clinical datasets of congenital heart disease. Preprocessing steps involved segmentation, intensity normalization, and mesh generation, while the reconstruction was performed using a blend of statistical shape modeling (SSM), graph convolutional networks (GCNs), and progressive GANs.
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