The diversity of mutations in human chromosomes is nowadays very well documented. The mutations characterize populations in the world as well as genetic causes of diseases. In the approach that we follow, we study the patterns of gaps between mutations by means of the rescaled range analysis and the fractal dimension estimates. The results for chromosomes 1 to 22 and X indicate the existence of the so-called Hurst phenomenon in all of them. The interpretation of this outcome entails the presence of long-range correlations and we propose an explanation based on the genomic feature dubbed linkage disequilibrium, a nonrandom association of alleles at different loci. An unexpected outcome is the noteworthy uniform reduction in the Hurst phenomenon when considering the centimorgan metric instead of base position units. By contrast, such uniform reduction is not observed with the fractal dimension values.
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http://dx.doi.org/10.1103/PhysRevE.106.064404 | DOI Listing |
Curr Opin Infect Dis
January 2025
Division of Pediatric Infectious Diseases, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.
Purpose Of Review: This review focuses on the temporal relationship between the discontinuation of the global smallpox eradication effort with the rise of mpox in Africa and worldwide. It also discusses the global 2022 clade II mpox epidemic and the current 2024 clade I mpox outbreak. Newer findings on viral evolution and pathogenesis, plus current and future strategies for disease prevention, are reviewed.
View Article and Find Full Text PDFHum Mol Genet
January 2025
Department of Cell & Developmental Biology, Vanderbilt University School of Medicine, 1161 21st Ave S, Nashville, Tennessee, 37232, United States of America.
Tuberous Sclerosis Complex (TSC) is a debilitating developmental disorder characterized by a variety of clinical manifestations. While benign tumors in the heart, lungs, kidney, and brain are all hallmarks of the disease, the most severe symptoms of TSC are often neurological, including seizures, autism, psychiatric disorders, and intellectual disabilities. TSC is caused by loss of function mutations in the TSC1 or TSC2 genes and consequent dysregulation of signaling via mechanistic Target of Rapamycin Complex 1 (mTORC1).
View Article and Find Full Text PDFPhysiol Rep
February 2025
Berlin Institute of Health at Charité, Universitätsmedizin Berlin, Center of Functional Genomics, Berlin, Germany.
The zona glomerulosa (ZG) synthesizes the mineralocorticoid aldosterone. The primary role of aldosterone is the maintenance of volume and electrolyte homeostasis. Aldosterone synthesis is primarily regulated via tightly controlled oscillations in intracellular calcium levels in response to stimulation.
View Article and Find Full Text PDFIntroduction: Angioimmunoblastic T-cell lymphoma (AITL) is a rare and aggressive lymphoma with a poor prognosis. AITL is associated with Epstein-Barr virus (EBV)-positive B cells in most cases, suggesting a possible role for the virus in the pathobiology of AITL. Cell lines from AITL patients do not exist and models of human AITL are needed.
View Article and Find Full Text PDFFront Endocrinol (Lausanne)
January 2025
Endocrinology and Diabetes Center, Yokohama Rosai Hospital, Yokohama, Japan.
Several decades have passed since the description of the first patient with primary aldosteronism (PA). PA was initially classified in two main forms: aldosterone-producing adenoma (APA) and idiopathic hyperaldosteronism (IHA). However, the pathogenesis of PA has now been shown to be far more complex.
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