PIK3R1 mutations that cause immunodeficiency through PI3-kinase hyperactivation also cause SHORT syndrome, due to PI3-kinase hypofunction, attributable to PI3-kinase destabilisation and outcompetition by mutant PIK3R1.

A unique functional comparison of the major endometrial cell types from 44 control and endometriosis patients demonstrates not only a uterine origin of the disease, but also that endometrial to mesothelial cell gap junctions are required for invasive lesion formation.

Treatment with a JAK inhibitor normalizes multiple biomarkers of autoinflammation and provides therapeutic benefit for diverse immune skin conditions in individuals with Down syndrome.

If CHIP and mLOY do not significantly contribute to inflammation, atherosclerosis or myocardial infarction risk independently, CHIP may increase the risk of MI in men who do not carry mLOY.

Aneuploid human embryonic cells are eliminated by p53-mediated apoptosis in a gene dosage dependent manner.

Analysis of 108 human embryos aged 3–7 weeks reveals modes of primary and secondary neurulation, regulation of body elongation, somite formation rate, and common occurrence of a split neural tube.