Anna L. Gloyn

The paper integrates multiple scRNA-seq datasets to create a comprehensive atlas of human pancreatic islets, identifying 13 cell populations and providing a resource for diabetes research.

In 299 islet preparations from donors without diabetes, endocrine cell composition, not donor demographics, tracked insulin secretion, and δ cell percentage rose with type 2 diabetes genetic risk.

The paper infers post-transcriptional regulatory mechanisms in human islets using cell type-specific eQTLs from single-cell RNA-seq data, linking variants to biological processes in health and disease.

The paper conducts a large-scale rare variant GWAS meta-analysis of type 2 diabetes, identifying novel variants in monogenic diabetes genes and assessing their pathogenicity.

The paper uses single-cell multiome profiling to identify gene regulatory changes in pancreatic islets linked to diabetes risk factors like age, sex, and genetic variants.

This study shows that reducing RREB1 in mice and humans decreases adipogenesis and improves insulin sensitivity, linking RREB1 to type 2 diabetes risk.

HumanIslets.com provides an open platform for accessing and analyzing human islet data, enabling research on diabetes through integrated molecular and cellular phenotyping.

This study maps human glucokinase variant activity using a yeast complementation assay, identifying activity patterns linked to disease and providing insights for variant interpretation and therapeutic development.

A genome-wide CRISPR screen in human pancreatic beta cells identifies 580 genes influencing insulin content, supporting 20 candidate type 2 diabetes effector transcripts.

The paper uses targeted chromatin interaction profiling to identify causal genes at type 2 diabetes GWAS loci with higher sensitivity and resolution than genome-wide methods.

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.

This study shows that PAX4 variants reduce beta cell function and increase diabetes risk by impairing insulin secretion and hormone gene expression in human cells.

This study maps human fetal pancreatic development using scRNA-Seq and snATAC-Seq, identifying novel cell types and regulatory mechanisms, and highlights gene FEV's role in endocrine differentiation.

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 develops a framework to determine tissue-of-action for type 2 diabetes GWAS signals by integrating gene expression and epigenomic data, revealing key tissues and enhancing functional interpretation.

The paper investigates how genetic variants affect gene expression in human pancreatic islets and identifies candidate genes linked to type 2 diabetes.

This paper identifies 56 new type 2 diabetes loci in 433,540 East Asian individuals through a meta-analysis of GWAS data.

The paper uses deep learning models to predict regulatory variants in pancreatic islets and refines T2D association signals by integrating epigenomic data with genetic fine-mapping.

The paper shows that a loss-of-function variant in ZnT8 improves insulin secretion and protects against type 2 diabetes by enhancing glucose responsiveness and proinsulin conversion.

The paper integrates genetic, genomic, and functional data to identify convergent biological pathways in type 2 diabetes, revealing enriched functional connectivity among causal genes.

The paper integrates chromatin accessibility and DNA methylation data from human pancreatic islets to refine regulatory mechanisms at Type 2 Diabetes susceptibility loci.

This study examines the electrophysiological and secretory properties of human β-cell lines EndoC-βH1 and -βH2, finding they closely resemble primary human β-cells in insulin secretion and ion channel behavior.

This study identifies T2D risk alleles in PAM that impair beta cell function through distinct effects on expression and catalytic activity, revealing a novel mechanism involving Chromogranin A.