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Evaluating vitamin C-related gene-environment and metabolite-environment interaction effects on intraocular pressure in the Canadian Longitudinal Study on Aging.
BMC Genom Data
January 2025
School of Epidemiology and Public Health, University of Ottawa, 600 Peter Morand Crescent, Office 101E, Ottawa, Ontario, K1G 5Z3, Canada.
High intraocular pressure (IOP) is an important risk factor for glaucoma, which is influenced by genetic and environmental factors. However, the etiology of high IOP remains uncertain. Metabolites are compounds involved in metabolism which provide a link between the internal (genetic) and external environments.
View Article and Find Full Text PDFPhenotypic outcomes of PKD1 compared with non-PKD1 genetically confirmed autosomal dominant polycystic kidney disease.
J Nephrol
January 2025
Department of Nephrology and Transplantation, Beaumont Hospital, Dublin, Ireland.
Background: Autosomal Dominant Polycystic Kidney Disease (ADPKD) represents the most common monogenic cause of kidney failure. While identifying genetic variants predicts disease progression, characterization of recently described ADPKD-like variants is limited. We explored disease progression and genetic spectrum of genetically-confirmed ADPKD families with PKD1 and non-PKD1 variants.
View Article and Find Full Text PDFGenetic associations between orexin genes and phenotypes related to behavioral regulation in humans, including substance use.
Mol Psychiatry
January 2025
Department of Psychiatry, Rutgers Robert Wood Johnson Medical School, Piscataway, NJ, 08854, USA.
The hypothalamic neuropeptide system of orexin (hypocretin) neurons provides projections throughout the neuraxis and has been linked to sleep regulation, feeding and motivation for salient rewards including drugs of abuse. However, relatively little has been done to examine genes associated with orexin signaling and specific behavioral phenotypes in humans. Here, we tested for association of twenty-seven genes involved in orexin signaling with behavioral phenotypes in humans.
View Article and Find Full Text PDFCirculating microRNAs and alcohol consumption in the Multiethnic Cohort Study.
Alcohol
January 2025
Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California, Los Angeles, CA; Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA; Center for Genetic Epidemiology, Keck School of Medicine, University of Southern California, Los Angeles, CA.
Excessive alcohol consumption is a significant public health concern and contributes to liver diseases and cancer. Modifiable lifestyle factors including alcohol consumption can influence circulating microRNAs (miRNAs), which are increasingly used as biomarkers for early disease detection. Yet limited studies have identified miRNAs associated with alcohol intake, particularly in multiethnic populations.
View Article and Find Full Text PDFPrenatal gene editing for neurodevelopmental diseases: Ethical considerations.
Am J Hum Genet
January 2025
Department of Social Medicine and Center for Bioethics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Neurodevelopmental diseases (NDDs) are notoriously difficult to treat because clinical symptoms stem from developmental processes that begin before birth. Prenatal gene editing could fill the treatment gap for NDDs by targeting and permanently correcting the genetic variants that underlie these pathogenic developmental processes. At the same time, there is a risk of unintended edits to the fetus or the pregnant person that could result in serious adverse consequences that are difficult, if not impossible, to undo.
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