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An inducedpluripotent stem cell (iPSC)-based model of KCNQ2-associated developmental epileptic encephalopathy suggests that disease is driven by dyshomeostaic neuronal mechanisms that are downstream of loss of M-current.

A human cellular model of a prototypical form of intractable childhood epilepsy supports selective impairment of inhibitory neurons as a key pathophysiological mechanism.

Mutations causing proinsulin misfolding trigger unfolded protein response and lead to impaired proliferation and reduced mTORC1 signalling of developing beta-cells in a patient-derived induced pluripotent stem cell disease model.

Rapamycin treatment inhibits mTOR activity and preserves ATP levels in neurons derived from induced pluripotent stem cells from a maternally inherited Leigh syndrome patient.

Loss-of-function variants of human ACK1 and BRK kinase underlie systemic lupus erythematosus in young patients from multiplex families and disrupt the anti-inflammatory response of macrophages to apoptotic cells.

Chondrocytes derived from induced pluripotent stem cells with the dysplasia-causing TRPV4 mutations, V620I and T89I mutation, were resistant to BMP4-induced hypertrophy, suggesting a mechanism underlying the effects of TRPV4 dysfunction on the severity of skeletal dysplasia.

A 7-dehydrocholesterol-derived oxysterol in SLOS was found to profoundly impact neurogenesis during cortical development by interacting with glucocorticoid receptor, which points to new therapeutic approaches for SLOS by targeting the activities of this oxysterol.

Analyses of human stem cells with distinct GATA6 mutations revealed a spectrum of molecular responses that drive isolated congenital heart disease or the co-occurrence of pancreas and diaphragm malformations.

Correction of the DNA methyltransferase 3B gene in ICF1 syndrome fails to rescue the abnormal DNA hypomethylation at subtelomeric regions due to accompanied epigenetic abnormalities in these regions.