Issues

Summary:In vitro, in vivo and in silico models of congenital heart disease provide important insights into the causes, evolution and pathological effects of congenital structural heart disease – a group of largely heterogenous disorders with substantial morbidity – and aid in designing effective therapies.

Summary: This Review discusses the challenges of modelling epilepsy in mice, a condition in which the outward manifestation of the disorder appears only sporadically, and reviews possible solutions encompassing both genetic and induced models.

Summary: The gut-liver neural axis is involved in NAFLD progression and serotonin is the key factor in allowing this pathway to change the expression of tight junction molecules, microbiota diversity and short-chain fatty acids.

Summary: We established a RISPR/Cas9-mediated Uox gene-KO Wistar rat model of hyperuricemia, and show that autophagy and NLRP3-related inflammation are involved in uric acid nephropathy.

Summary: Analyses using a zebrafish line expressing RAS in the notochord, under the control of the kita promoter, revealed that transformed notochord cells alter the skeleton during life, causing a wound-like phenotype and activating chronic wound response.

Summary: Analyses of mice deficient in myeloid MCPIP1 reveal a function of myeloid MCPIP1 in the transition from autoinflammation to autoimmunity and a role for macrophage-dependent immune activation as a trigger of secondary autoimmunity.

Editor's choice: Experiments using overnourished sheep raised on a high-calorie liver-fattening diet, treated with and without thiamine, revealed that vitamin B1 protects against the development of fatty liver driven by overnutrition.

Summary: A moonlighting activity of the α-subunit of the Phenylalanyl tRNA synthetase in Drosophila promotes growth and proliferation through a novel mechanism that neither involves aminoacylation nor translation.

Summary: EZH2 in the pharyngeal apparatus is required in the endoderm for the development of the parathyroids and thymus, and positively regulates the expression of the Tbx1 gene.

Summary: Transcriptomic and proteomic analyses of iPSCs with allele-dose dependent expression of the PIK3CA^H1047R oncogene confirm network rewiring in homozygous mutants, with self-sustained stemness likely driven by constitutive TGFβ/NODAL pathway activation.

Summary: Combined application of polarisation-resolved second-harmonic generation microscopy and Raman spectroscopy identified unique, sexually dimorphic extracellular matrix signatures linking pathological matrix disorganisation with composition.