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• W2605227788 abstract "Human endocrine-cerebro-osteodysplasia (ECO) syndrome, caused by the loss-of-function mutation R272Q in the intestinal cell kinase (ICK) gene, is a neonatal-lethal developmental disorder. To elucidate the molecular basis of ECO syndrome, we constructed an Ick R272Q knock-in mouse model that recapitulates ECO pathological phenotypes. Newborns bearing Ick R272Q homozygous mutations die at birth due to respiratory distress. Ick mutant lungs exhibit not only impaired branching morphogenesis associated with reduced mesenchymal proliferation but also significant airspace deficiency in primitive alveoli concomitant with abnormal interstitial mesenchymal differentiation. ICK dysfunction induces elongated primary cilia and perturbs ciliary Hedgehog signaling and autophagy during lung sacculation. Our study identifies an essential role for ICK in lung development and advances the mechanistic understanding of ECO syndrome." @default.
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• W2605227788 date "2017-04-21" @default.
• W2605227788 modified "2023-10-16" @default.
• W2605227788 title "An essential role of intestinal cell kinase in lung development is linked to the perinatal lethality of human ECO syndrome" @default.
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• W2605227788 doi "https://doi.org/10.1002/1873-3468.12644" @default.
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