{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T20:04:47Z","timestamp":1762459487145},"reference-count":36,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2017,4,21]],"date-time":"2017-04-21T00:00:00Z","timestamp":1492732800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["DK082614","CA195273"],"award-info":[{"award-number":["DK082614","CA195273"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["febs.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["FEBS Letters"],"published-print":{"date-parts":[[2017,5]]},"abstract":"<jats:p>Human endocrine\u2010cerebro\u2010osteodysplasia (<jats:styled-content style=\"fixed-case\">ECO<\/jats:styled-content>) syndrome, caused by the loss\u2010of\u2010function mutation R272Q in the intestinal cell kinase (<jats:italic>ICK<\/jats:italic>) gene, is a neonatal\u2010lethal developmental disorder. To elucidate the molecular basis of <jats:styled-content style=\"fixed-case\">ECO<\/jats:styled-content> syndrome, we constructed an <jats:italic>Ick<\/jats:italic> R272Q knock\u2010in mouse model that recapitulates <jats:styled-content style=\"fixed-case\">ECO<\/jats:styled-content> pathological phenotypes. Newborns bearing <jats:italic>Ick<\/jats:italic> R272Q homozygous mutations die at birth due to respiratory distress. <jats:italic>Ick<\/jats:italic> 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. <jats:styled-content style=\"fixed-case\">ICK<\/jats:styled-content> dysfunction induces elongated primary cilia and perturbs ciliary Hedgehog signaling and autophagy during lung sacculation. Our study identifies an essential role for <jats:styled-content style=\"fixed-case\">ICK<\/jats:styled-content> in lung development and advances the mechanistic understanding of <jats:styled-content style=\"fixed-case\">ECO<\/jats:styled-content> syndrome.<\/jats:p>","DOI":"10.1002\/1873-3468.12644","type":"journal-article","created":{"date-parts":[[2017,4,5]],"date-time":"2017-04-05T22:26:02Z","timestamp":1491431162000},"page":"1247-1257","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["An essential role of intestinal cell kinase in lung development is linked to the perinatal lethality of human <scp>ECO<\/scp> syndrome"],"prefix":"10.1002","volume":"591","author":[{"given":"Yixin","family":"Tong","sequence":"first","affiliation":[{"name":"Department of Pharmacology University of Virginia Charlottesville VA USA"},{"name":"The Gastrointestinal Surgery Center Tongji Hospital Huazhong University of Science &amp; 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