Paul W. Franks
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View article: Modeling Genetic Risk of β‐Cell Dysfunction in Human Induced Pluripotent Stem Cells From Patients Carrying the <i>MTNR1B</i> Risk Variant
Modeling Genetic Risk of β‐Cell Dysfunction in Human Induced Pluripotent Stem Cells From Patients Carrying the <i>MTNR1B</i> Risk Variant Open
Disruptions in circadian rhythm, partly controlled by the hormone melatonin, increase the risk of type 2 diabetes (T2D). Accordingly, a variant of the gene encoding the melatonin receptor 1B ( MTNR1B ) is robustly associated with increased…
View article: Metabolic Health and Heterogenous Outcomes of Prenatal Interventions
Metabolic Health and Heterogenous Outcomes of Prenatal Interventions Open
Importance Prenatal intensive behavioral therapy (IBT) interventions that promote adequate gestational weight gain (GWG) have had variable and mostly modest effects on clinically relevant maternal and infant outcomes. It is unknown whether…
View article: Bayesian network imputation methods applied to multi-omics data identify putative causal relationships in a type 2 diabetes dataset containing incomplete data: An IMI DIRECT Study
Bayesian network imputation methods applied to multi-omics data identify putative causal relationships in a type 2 diabetes dataset containing incomplete data: An IMI DIRECT Study Open
Here we report the results from exploratory analysis using a Bayesian network approach of data originally derived from a large North European study of type 2 diabetes (T2D) conducted by the IMI DIRECT consortium. 3029 individuals (795 with…
View article: Insulin levels at 18–20 gestational weeks in pregnant women with obesity are associated with newborn abdominal fat deposition and DNA methylation in cord blood
Insulin levels at 18–20 gestational weeks in pregnant women with obesity are associated with newborn abdominal fat deposition and DNA methylation in cord blood Open
We assessed if fasting plasma insulin levels in pregnant women with obesity are associated with newborns’ abdominal fat deposition (dual-energy X-ray absorptiometry) and with cord blood DNA methylation (450k array) in 232 mother–child pair…
View article: Economic impact of the Elecsys anti-Müllerian hormone Plus immunoassay for anti-Müllerian hormone testing as part of polycystic ovary syndrome assessment in the United Kingdom
Economic impact of the Elecsys anti-Müllerian hormone Plus immunoassay for anti-Müllerian hormone testing as part of polycystic ovary syndrome assessment in the United Kingdom Open
Polycystic ovary syndrome (PCOS) is the most common endocrine disorder among women. Current international PCOS assessment and management guidelines recommend anti-Müllerian hormone (AMH) as an alternative to transvaginal ultrasound for ass…
View article: A Biological-Systems-Based Analyses Using Proteomic and Metabolic Network Inference Reveals Mechanistic Insights into Hepatic Lipid Accumulation: An IMI-DIRECT Study
A Biological-Systems-Based Analyses Using Proteomic and Metabolic Network Inference Reveals Mechanistic Insights into Hepatic Lipid Accumulation: An IMI-DIRECT Study Open
Objective To delineate organ-specific and systemic drivers of metabolic dysfunction-associated steatotic liver disease (MASLD), we applied integrative causal inference across clinical, imaging, and proteomic domains in individuals with and…
View article: Precision cardiovascular risk prediction in type 1 diabetes: An IMI2 SOPHIA analysis
Precision cardiovascular risk prediction in type 1 diabetes: An IMI2 SOPHIA analysis Open
Cardiovascular disease (CVD) is a major long-term complication and the leading cause of morbidity and mortality among individuals with type 1 diabetes (T1D), with a substantially higher prevalence compared to the general population and dri…
View article: Epigenome-wide association study of objectively measured physical activity in peripheral blood leukocytes
Epigenome-wide association study of objectively measured physical activity in peripheral blood leukocytes Open
Background Few studies have explored the association between DNA methylation and physical activity. The aim of this study was to evaluate the association of objectively measured hours of sedentary behavior (SB) and moderate physical activi…
View article: <scp>D</scp><scp>NA</scp> methylation in cord blood partially mediates the effects of prepregnancy <scp>BMI</scp> on early childhood offspring <scp>BMI</scp>
<span>D</span><span>NA</span> methylation in cord blood partially mediates the effects of prepregnancy <span>BMI</span> on early childhood offspring <span>BMI</span> Open
Objective We investigated whether prepregnancy BMI (prePregBMI) in women with obesity was associated with differential DNA methylation (DNAm) in cord blood (CB) and whether DNAm may mediate the association of prePregBMI and early childhood…
View article: A Research Roadmap to Address the Heterogeneity of Diabetes and Advance Precision Medicine
A Research Roadmap to Address the Heterogeneity of Diabetes and Advance Precision Medicine Open
The current classification of diabetes had its genesis over 85 years ago, when individuals with diabetes were first subclassified into insulin sensitive and insulin insensitive states based on the response to an oral glucose tolerance test…
View article: The Gly482Ser PPARGC1A polymorphism regulates PGC-1α stability and human brown adipocyte mitochondrial function under cold exposure
The Gly482Ser PPARGC1A polymorphism regulates PGC-1α stability and human brown adipocyte mitochondrial function under cold exposure Open
Adaptive thermogenesis in brown adipose tissue is regulated by PPARGC1A (PGC-1α), which could be affected by common polymorphism (rs8192678, Gly482Ser) that associates with metabolic disorders. We used CRISPR-Cas9 in immortalized human bro…
View article: Author Correction: Subclassification of obesity for precision prediction of cardiometabolic diseases
Author Correction: Subclassification of obesity for precision prediction of cardiometabolic diseases Open
Correction to: Nature Medicinehttps://doi.org/10.1038/s41591-024-03299-7, published online 24 October 2024. In the version of the article initially published, Pierre Bauvin’s surname appeared incorrectly (as Bauvain) and has now been amend…
View article: Diabetes and obesity: leveraging heterogeneity for precision medicine
Diabetes and obesity: leveraging heterogeneity for precision medicine Open
The increasing prevalence of diabetes, obesity, and their cardiometabolic sequelae present major global health challenges and highlight shortfalls of current approaches to the prevention and treatment of these conditions. Representing the …
View article: Impact of sample size and tissue relevance on T2D gene identification
Impact of sample size and tissue relevance on T2D gene identification Open
Identification of genes and proteins mediating the activity of GWAS variants requires molecular data from disease relevant tissues, but these may be difficult to collect. Using multiple gene expression reference datasets and GWAS summary s…
View article: Role of human plasma metabolites in prediabetes and type 2 diabetes from the IMI-DIRECT study
Role of human plasma metabolites in prediabetes and type 2 diabetes from the IMI-DIRECT study Open
Aims/hypothesis Type 2 diabetes is a chronic condition that is caused by hyperglycaemia. Our aim was to characterise the metabolomics to find their association with the glycaemic spectrum and find a causal relationship between metabolites …
View article: Epigenome-wide association study of objectively measured physical activity in peripheral blood leukocytes
Epigenome-wide association study of objectively measured physical activity in peripheral blood leukocytes Open
Background Few studies have explored the association between DNA methylation and physical activity. The aim of this study was to evaluate the association of objectively measured hours of sedentary behavior (SB) and moderate physical activi…
View article: Modelling genetic risk of β-cell dysfunction in human induced pluripotent stem cells from patients carrying the<i>MTNR1B</i>risk variant
Modelling genetic risk of β-cell dysfunction in human induced pluripotent stem cells from patients carrying the<i>MTNR1B</i>risk variant Open
Disruptions in circadian rhythm, partly controlled by the hormone melatonin, increase the risk of type 2 diabetes (T2D). Accordingly, a variant of the gene encoding the melatonin receptor 1B ( MTNR1B ) is robustly associated with increased…
View article: The Effect of Metformin Treatment on the Circulating Proteome
The Effect of Metformin Treatment on the Circulating Proteome Open
Objective Metformin is one of the most used drugs worldwide. However, its mechanism of action remains uncertain. Given the potential to reveal novel insights into the pleiotropic effects of metformin treatment, we aimed to undertake a comp…
View article: Increased genetic risk for β-cell failure is associated with β-cell function decline in people with prediabetes
Increased genetic risk for β-cell failure is associated with β-cell function decline in people with prediabetes Open
Partitioned polygenic scores (pPS) have been developed to capture pathophysiologic processes underlying type 2 diabetes (T2D). We investigated the influence of T2D pPS on diabetes-related traits and T2D incidence in the Diabetes Prevention…
View article: Increased genetic risk for β-cell failure is associated with β-cell function decline in people with prediabetes
Increased genetic risk for β-cell failure is associated with β-cell function decline in people with prediabetes Open
Partitioned polygenic scores (pPS) have been developed to capture pathophysiologic processes underlying type 2 diabetes (T2D). We investigated the influence of T2D pPS on diabetes-related traits and T2D incidence in the Diabetes Prevention…