Miriam Cnop

This study shows TRMT10A deficiency causes β-cell dysfunction by promoting tRNA fragmentation and disrupting PCSK1 expression, leading to impaired insulin maturation and glucose-stimulated insulin secretion.

This study uses sex-stratified GWAS and explainable AI to identify 184 genes associated with T2D subtypes and improve risk detection.

The paper shows that ER stress relief in beta cells promotes proliferation, independent of vascular recovery, by using transgene overexpression and chemical induction.

This study integrates multi-omics data to identify genetic variants and molecular mechanisms associated with type 2 diabetes and highlights potential drug targets.

RedRibbon is a rank-rank hypergeometric overlap method for comparing gene and transcript expression signatures, showing accuracy and efficiency on large datasets.

This study identifies the lncRNA ARGI as a mediator of virus-induced inflammation in pancreatic beta cells linked to type 1 diabetes through allele-specific transcriptional activation.

The paper demonstrates that TOPMed imputation improves the identification of rare variants associated with type 2 diabetes in Latino populations, leading to novel associations and better polygenic scores.

The paper identifies splicing QTLs in human pancreatic islets that contribute to type 2 diabetes susceptibility by affecting gene splicing and revealing novel molecular mechanisms.

The paper creates TIGER, a resource integrating RNA-seq and genotyping data from human pancreatic islets to identify eQTLs and their associations with type 2 diabetes.

The paper identifies stable reference genes for normalizing gene expression in human pancreatic beta cells under stress conditions using RNA-seq and qPCR validation.

The paper reconstructs gene regulatory networks in human adult pancreatic cell types and identifies key transcription factors regulating cell identity.

This study identifies heterozygous RFX6 protein truncating variants as a cause of MODY with reduced penetrance, using genetic analysis and cohort comparisons.