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http://dx.doi.org/10.1038/s41375-018-0284-9 | DOI Listing |
Annu Rev Pathol
September 2025
3Department of Pathology, Stanford University, Stanford, California, USA;
Clonal hematopoiesis, originally identified as a precursor to hematologic malignancies, has emerged as a significant factor in various nonmalignant diseases. Recent research highlights how somatic mutations in hematopoietic stem cells lead to the expansion of circulating mutated immune cells that exert profound effects on organ function and disease progression. These mutated clones display altered inflammatory profiles and tissue-specific functional consequences, contributing to various diseases including atherosclerotic cardiovascular disease, osteoporosis, heart failure, and neurodegenerative conditions.
View Article and Find Full Text PDFSci Adv
September 2025
Department of Cell & Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN, USA.
Somatic mitochondrial DNA (mtDNA) mutations are frequently observed in tumors, yet their role in pediatric cancers remains poorly understood. The heteroplasmic nature of mtDNA-where mutant and wild-type mtDNA coexist-complicates efforts to define its contribution to disease progression. In this study, bulk whole-genome sequencing of 637 matched tumor-normal samples from the Pediatric Cancer Genome Project revealed an enrichment of functionally impactful mtDNA variants in specific pediatric leukemia subtypes.
View Article and Find Full Text PDFJ Appl Stat
February 2025
Department of Mathematics and Statistics, Wright State University, Dayton, Ohio, USA.
Overdispersion is a common phenomenon in genetic data, such as gene expression count data. In genetic association studies, it is important to investigate the association between a gene expression and a set of genetic variants from a pathway. However, existing approaches for pathway analysis are primarily designed for continuous and binary outcomes and are not applicable to overdispersed count data.
View Article and Find Full Text PDFTheor Appl Genet
September 2025
Plant Breeding, Wageningen University & Research, P.O. Box 386, 6700 AJ, Wageningen, The Netherlands.
Potato bolters are caused by excision of a transposon from the StCDF1.3 allele, resulting in a somatic mutant with late maturity. Somatic mutations during vegetative propagation can lead to novel genotypes, known as sports.
View Article and Find Full Text PDFGene
September 2025
Department of Otorhinolaryngology Head and Neck Surgery, Hainan General Hospital (Hainan Affiliated Hospital of Hainan Medical University), Haikou, China. Electronic address:
Background: Nasopharyngeal carcinoma (NPC) pathogenesis is multi-factorial, involving synergistic interactions among genetic susceptibility, Epstein-Barr virus (EBV) infection, and environmental exposures. Notably, specific multi-generational families exhibit NPC incidence substantially exceeding both sporadic cases and general genetic susceptibility cohorts, demonstrating Mendelian inheritance patterns. This supports the hypothesis that high penetrance pathogenic variants dominate disease initiation and progression in familial NPC.
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