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Distinct network patterns emerge from Cartesian and XOR epistasis models: a comparative network science analysis.
BioData Min
December 2024
School of Computing, Queen's University, 557 Goodwin Hall, 21-25 Union St, Kingston, K7L 2N8, Ontario, Canada.
Background: Epistasis, the phenomenon where the effect of one gene (or variant) is masked or modified by one or more other genes, significantly contributes to the phenotypic variance of complex traits. Traditionally, epistasis has been modeled using the Cartesian epistatic model, a multiplicative approach based on standard statistical regression. However, a recent study investigating epistasis in obesity-related traits has identified potential limitations of the Cartesian epistatic model, revealing that it likely only detects a fraction of the genetic interactions occurring in natural systems.
View Article and Find Full Text PDFPeripheral nerve injury induces dystonia-like movements and dysregulation in the energy metabolism: A multi-omics descriptive study in Thap1 mice.
Neurobiol Dis
December 2024
Department of Neurology, University Hospital of Wuerzburg, Germany. Electronic address:
DYT-THAP1 dystonia is a monogenetic form of dystonia, a movement disorder characterized by the involuntary co-contraction of agonistic and antagonistic muscles. The disease is caused by mutations in the THAP1 gene, although the precise mechanisms by which these mutations contribute to the pathophysiology of dystonia remain unclear. The incomplete penetrance of DYT-THAP1 dystonia, estimated at 40 to 60 %, suggests that an environmental trigger may be required for the manifestation of the disease in genetically predisposed individuals.
View Article and Find Full Text PDFLonicera caerulea genome reveals molecular mechanisms of freezing tolerance and anthocyanin biosynthesis.
J Adv Res
December 2024
Key Laboratory of Saline-alkali Vegetation Ecology Restoration (Northeast Forestry University), Ministry of Education, Harbin 150040, China; College of Life Science, Northeast Forestry University, Harbin 150040, China. Electronic address:
Introduction: Lonicera caerulea L. (blue honeysuckle) is a noteworthy fleshy-fruited tree and a prominent medicinal plant, which possesses notable characteristics such as exceptional resilience to winter conditions and early maturation, and the richest source of functional anthocyanins, particularly cyanidin-3-glucoside. The molecular mechanisms responsible for its freezing tolerance and anthocyanin biosynthesis remain largely unknown.
View Article and Find Full Text PDFExosome-Based Advances in Pancreatic Cancer: The Potential of Mesenchymal Stem Cells.
Crit Rev Oncol Hematol
December 2024
Department of Cell and Molecular Sciences, Faculty of Biological Sciences, Kharazmi University, Tehran, Iran; Faculty of Science, University of Amsterdam, Amsterdam, the Netherlands.
Pancreatic cancer, especially pancreatic ductal adenocarcinoma (PDAC), is one of the most challenging clinical conditions due to its late-stage diagnosis and poor survival rates. Mesenchymal stem cells (MSCs), used for targeted therapies, are being explored as a promising treatment because of their tumor-homing properties and potential contributions to the pancreatic cancer microenvironment. Understanding these interactions is crucial for developing effective treatments.
View Article and Find Full Text PDFThe role of mitochondrial DNA variants and dysfunction in the pathogenesis and progression of multiple sclerosis.
Mitochondrion
December 2024
Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran; Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran; Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. Electronic address:
Multiple sclerosis (MS) is a chronic autoimmune disease that affects the central nervous system (CNS). The etiology of MS remains elusive, with a complex interplay of genetic and environmental factors contributing to its pathogenesis. Recent studies showed mitochondrial DNA (mtDNA) as a potential player in the development and progression of MS.
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