Issues

Summary: Overgrowth-intellectual disability disorders share common clinical phenotypes, yet have different aetiology. A comprehensive understanding of these differences, commonalities and treatment possibilities is crucial for ensuring informed patient-centred care.

Summary: Mouse lines carrying Ae1 L919X or R607H knock-in variations that mimic human distal renal tubular acidosis (dRTA) display urinary sodium waste, as seen in some patients with dRTA, and upregulation of tight junction proteins claudin 4 and 10b, when exposed to a salt-depleted acid challenge.

Summary: Loss of function of tafazzin causes Barth syndrome. We characterized a murine model with selective skeletal and cardiac knockout of tafazzin that should prove useful for pre-clinical therapeutic development.

Editor's choice: Liver tumours are diseases of unmet need and targets for clinical radiotherapy. We describe the development of a murine model platform facilitating image-guided stereotactic irradiation of liver tumours.

Summary: We found a new human WNT11 variant and functionally characterized it in Xenopus embryos. Our work indicates that WNT11 dysfunction is a genetic cause of syndromal human congenital phenotypes.

Summary: We knocked down cardiovascular disease- and insomnia-related genes in Drosophila neurons and heart, revealing impaired sleep, cardiac dysfunction and inflammation. Cross-tissue effects linked heart dysfunction to sleep disruption via Upd3.