D. Egli

Replication stress in activated human NK cells induces sensitivity to apoptosis

This study shows that replication stress in activated human NK cells increases apoptosis and impairs function, linking helicase deficiency to NK cell deficiency.

Permanent Neonatal diabetes-causing Insulin mutations have dominant negative effects on beta cell identity

This study investigates two INS mutations causing permanent neonatal diabetes, showing they impair beta cell function through misfolded proinsulin, ER stress, and dedifferentiation.

Loss of Rnf31 and Vps4b sensitizes pancreatic cancer to T cell-mediated killing

This study identifies Rnf31 and Vps4b as factors enabling pancreatic cancer to evade T cell killing, showing their inactivation increases T cell-mediated tumor cell death.

Use of Induced Pluripotent Stem Cells to Build Isogenic Systems and Investigate Type 1 Diabetes

This paper demonstrates the use of induced pluripotent stem cells to create an isogenic system for studying genetic influences on cell-cell interactions in type 1 diabetes.

High-Yield Monocyte, Macrophage, and Dendritic Cell Differentiation from Induced Pluripotent Stem Cells

This paper describes a highly efficient method to differentiate iPSC into monocytes, MDMs, and moDCs with high purity and yield, overcoming previous limitations in culture efficiency and scalability.

Human stem cell model of HNF1A deficiency shows uncoupled insulin to C-peptide secretion with accumulation of abnormal insulin granules

This study uses human stem cells to show that HNF1A deficiency leads to impaired insulin secretion, altered insulin:C-peptide ratios, and abnormal secretory granules in beta-cells.

Regulation of intracellular signaling and neuron function by Bardet-Biedl Syndrome proteins in patient-specific iPSC-derived neurons

This study investigates how BBS mutations affect neuron function and signaling in iPSC-derived neurons, identifying impaired ciliary function and signaling pathways related to energy homeostasis.

A functional screening platform for engineering chimeric antigen receptors with reduced on-target, off-tumour activation

This study develops a functional screening platform to engineer CARs with reduced on-target, off-tumour activation by selecting for variants that respond only to high antigen expression.

Inter-homologue repair in fertilized human eggs?

The paper reviews the claim of inter-homologue repair in human embryos using CRISPR-Cas9 and discusses biological constraints and alternative explanations for the observed data.