Publications by authors named "Dorka Nagy"
Butyl phenyl--phosphinate that is not available commercially was prepared from phenyl--phosphinic acid by three methods: by alkylating esterification (i), by microwave-assisted direct esterification (ii), and unexpectedly, by thermal esterification (iii). Considering the green aspects, selectivity and scalability, the thermal variation seemed to be optimal. However, there was need for prolonged heating.
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- Type 2 diabetes (T2D) genome-wide association studies (GWASs) typically miss rare genetic variants due to limitations in previous imputation methods and insufficient whole-genome sequencing data.
- In a large-scale study involving over half a million individuals, researchers uncovered 12 new genetic variants linked to T2D, including a rare enhancer variant near the LEP gene that significantly increases risk.
- The study also analyzed ClinVar variants related to monogenic diabetes, identifying additional rare variants that affect T2D risk and offering new insights into the pathogenicity of certain variants previously deemed uncertain.
Liver kinase B1 (LKB1/STK11) is an important regulator of pancreatic β-cell identity and function. Elimination of Lkb1 from the β-cell results in improved glucose-stimulated insulin secretion and is accompanied by profound changes in gene expression, including the upregulation of several neuronal genes. The mechanisms through which LKB1 controls gene expression are, at present, poorly understood.
View Article and Find Full Text PDFLiver kinase B1 (LKB1/STK11) is an important regulator of pancreatic β-cell identity and function. Elimination of from the β-cell results in improved glucose-stimulated insulin secretion and is accompanied by profound changes in gene expression, including the upregulation of several neuronal genes. The mechanisms through which LKB1 controls gene expression are, at present, poorly understood.
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- A meta-analysis was conducted on data from 51,256 cases and 370,487 controls to identify rare genetic variants linked to type 2 diabetes (T2D), discovering 52 novel variants with significant associations.
- This study highlighted a specific rare missense variant, p.Arg114Trp, that has a strong connection to diabetes risk, influenced by other common genetic risk factors.
- The findings also indicated that a subset of variants previously listed as possible disease-causing mutations might actually be benign, suggesting a need for reevaluation of these genetic markers in relation to T2D.
Transcription factors (TFs) are proteins that affect gene expression by binding to regulatory regions of DNA in a sequence specific manner. The binding of TFs to DNA is controlled by many factors, including the DNA sequence, concentration of TF, chromatin accessibility and co-factors. Here, we systematically investigated the binding mechanism of hundreds of TFs by analysing ChIP-seq data with our explainable statistical model, ChIPanalyser.
View Article and Find Full Text PDFLiver sinusoidal endothelial cells (LSECs) are highly specialised endothelial cells that form the liver microvasculature. LSECs maintain liver homeostasis, scavenging bloodborne molecules, regulating immune response, and actively promoting hepatic stellate cell quiescence. These diverse functions are underpinned by a suite of unique phenotypical attributes distinct from other blood vessels.
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