Clinical and Biomedical Sciences: Recent submissions
Now showing items 6-10 of 330
-
Genetic links between ovarian ageing, cancer risk and de novo mutation rates
(Springer Nature, 11 September 2024)Human genetic studies of common variants have provided substantial insight into the biological mechanisms that govern ovarian ageing1. Here we report analyses of rare protein-coding variants in 106,973 women from the UK ... -
Widening the phenotypic spectrum caused by pathogenic PDX1 variants in individuals with neonatal diabetes
(BMJ Publishing Group, 2024)Introduction: Biallelic PDX1 variants are a rare cause of isolated pancreatic agenesis and neonatal diabetes without exocrine pancreatic insufficiency, with 17 cases reported in the literature. Research Design and ... -
Understanding the Genetic Landscape of Gestational Diabetes: Insights into the Causes and Consequences of Elevated Glucose Levels in Pregnancy
(MDPI, 20 September 2024)Background/Objectives: During pregnancy, physiological changes in maternal circulating glucose levels and its metabolism are essential to meet maternal and fetal energy demands. Major changes in glucose metabolism occur ... -
From methylation to myelination: epigenomic and transcriptomic profiling of chronic inactive demyelinated multiple sclerosis lesions
(Springer, 7 June 2023)In the progressive phase of multiple sclerosis (MS), the hampered differentiation capacity of oligodendrocyte precursor cells (OPCs) eventually results in remyelination failure. We have previously shown that DNA methylation ... -
Methylomic signature of current cannabis use in two first-episode psychosis cohorts
(Springer Nature, 16 October 2024)The rising prevalence and legalisation of cannabis worldwide have underscored the need for a comprehensive understanding of its biological impact, particularly on mental health. Epigenetic mechanisms, specifically DNA ...