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Epigenetic mechanisms that cause maternally and paternally inherited alleles to be expressed differently in offspring have the potential to radically change our understanding of the mechanisms that shape disease susceptibility, phenotypic variation, cell fate, and gene expression. However, the nature and prevalence of these effects have been unclear and are debated. Here, I consider major new studies of epigenetic allelic effects in cell lines and primary cells and . The emerging picture is that these effects take on diverse forms, and this review attempts to clarify the nature of the different forms that have been uncovered for genomic imprinting and random monoallelic expression (RME). I also discuss apparent discrepancies between and studies. Importantly, multiple studies suggest that allelic effects are prevalent and can be developmental stage- and cell type-specific. I propose some possible functions and consider roles for allelic effects within the broader context of gene regulatory networks, cellular diversity, and plasticity. Overall, the field is ripe for discovery and is in need of mechanistic and functional studies.
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http://dx.doi.org/10.12688/f1000research.11491.1 | DOI Listing |
J Forensic Sci
March 2025
Department of Forensic Science, Virginia Commonwealth University, Richmond, Virginia, USA.
Current processing techniques for harvesting DNA from osseous elements are destructive, and success rates vary widely. When skeletal elements are homogenized into a fine powder, endogenous DNA may be subjected to fragmentation, and the likelihood of introducing co-purified inhibitory substances to the sample increases. While a limited number of articles in the relevant literature have challenged the status quo of pulverization, powdering hard tissue samples before DNA isolation continues to be standard practice in the forensic and ancient DNA communities.
View Article and Find Full Text PDFInt J Lab Hematol
March 2025
Cancer Research Institute Ghent, Ghent University, Ghent, Belgium.
Background: Chimerism monitoring is part of the standard of care for patients following an allogeneic hematopoietic stem cell transplantation. There has recently been a move towards sensitive, high-throughput (next-generation) sequencing analysis of biallelic markers for this purpose. Determining the number and properties of the markers to include in an assay to achieve reliable yet cost-effective chimerism quantification is an underexposed but critical part of chimerism assay development, optimization, and validation.
View Article and Find Full Text PDFClin Nutr
March 2025
Department of Endocrinology and Diabetology, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Moorenstr. 5, 40225 Düsseldorf, Germany; Institute for Clinical Diabetology, German Diabetes Center, Leibniz Center for Diabetes Research at Heinrich-Heine-University Düsseldorf, Auf'm Hennekamp 65, 40225 Düsseldorf, Germany; German Center for Diabetes Research (DZD), Ingolstädter Landstr. 1, 85764 Neuherberg, Germany. Electronic address:
Background&aims: Lifestyle-induced weight reduction remains crucial for managing type 2 diabetes and steatotic liver disease, but its effectiveness varies. We postulated that the G allele in the rs738409 single nucleotide polymorphism within patatin-like phospholipase domain-containing protein 3 (PNPLA3), which associates with metabolic dysfunction-associated steatotic liver disease, also modulates diet-related metabolic effects.
Methods: Participants with type 2 diabetes were randomized to 8-week hypocaloric diets (energy intake: -1,256 kJ/d of, <30 kcal% fat): high in cereal fiber and coffee excluding red meat (HF-RM + C; n = 16), or low in cereal fiber, devoid of coffee, but high in red meat (LF + RM-C; n = 15).
Plant Biotechnol J
March 2025
Instituto de Investigaciones Fisiológicas y Ecológicas Vinculadas a la Agricultura (IFEVA-CONICET), Ciudad Autónoma de Buenos Aires, Argentina.
Grain sorghum (Sorghum bicolor L. moench) stands as a globally significant cereal crop but the adversity of pre-harvest sprouting (PHS) caused by reduced grain dormancy and moist conditions prior to harvest remains unsolved. Here, we identified a dormancy QTL using a Redlan×IS9530 RIL population, where parent lines are low in tannins and early flowering but otherwise contrasting in grain dormancy and plant height.
View Article and Find Full Text PDFESMO Open
March 2025
Department of Genetics, University of Delhi South Campus, New Delhi, India. Electronic address:
Background: Lung adenocarcinoma frequently presents with EGFR mutations, often progressing on EGFR tyrosine kinase inhibitors (TKIs) despite an initial response. Progression is frequently driven by additional genetic changes, including mutations in tumor suppressor genes (TSGs). Understanding the role of these concurrent TSG mutations can help elucidate resistance mechanisms and guide the development of more effective treatment approaches.
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