{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T05:30:39Z","timestamp":1791091839781,"version":"4.1.0"},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2010,3,1]],"date-time":"2010-03-01T00:00:00Z","timestamp":1267401600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J. pediatr. gastroenterol. nutr."],"published-print":{"date-parts":[[2010,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:label\/><jats:p>In <jats:italic>Cftr<\/jats:italic>\u2212\/\u2212 mice that mostly die because of intestinal obstruction, intestinal expression of <jats:italic>Clca3<\/jats:italic> is decreased, whereas upregulation of <jats:italic>Clca3<\/jats:italic> results in amelioration of intestinal disease. The aim of the study was to investigate whether the p.S357N variant in <jats:italic>CLCA1<\/jats:italic>, the human orthologue of <jats:italic>Clca3<\/jats:italic>, acts as a modifier gene in a cohort of 682 European patients with cystic fibrosis (CF)\u201399 patients with meconium ileus. The 357SS genotype was significantly overrepresented in both patients with meconium ileus and also with a severe <jats:italic>CFTR<\/jats:italic> genotype (<jats:italic>P<\/jats:italic> = 0.009) and in p.F508del homozygotes (<jats:italic>P<\/jats:italic> = 0.002). This suggests that <jats:italic>CLCA1<\/jats:italic> has similar important functions in CF\u2010related intestinal obstruction in humans as in <jats:italic>Cftr<\/jats:italic>\u2212\/\u2212 mice.<\/jats:p><\/jats:sec>","DOI":"10.1097\/mpg.0b013e3181afce6c","type":"journal-article","created":{"date-parts":[[2010,2,25]],"date-time":"2010-02-25T06:43:05Z","timestamp":1267080185000},"page":"347-349","source":"Crossref","is-referenced-by-count":28,"title":["Association of the <i>CLCA1<\/i> p.S357N Variant With Meconium Ileus in European Patients With Cystic Fibrosis"],"prefix":"10.1002","volume":"50","author":[{"given":"HPJ","family":"van der Doef","sequence":"first","affiliation":[{"name":"Department of Pediatric Gastroenterology The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"MG","family":"Slieker","sequence":"additional","affiliation":[{"name":"Department of Pediatric Pulmonology The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Staab","sequence":"additional","affiliation":[{"name":"Department of Pediatric Pulmonology and Immunology Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"BZ","family":"Alizadeh","sequence":"additional","affiliation":[{"name":"Department of Complex Genetics Section DBG\u2010Department of Medical Genetics University Medical Center Utrecht Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Seia","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics Laboratory Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Colombo","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology, Fondazione IRCCS Ospedale Maggiore Policlinico Mangiagalli e Regina Elena University of Milan Milan Italy"},{"name":"Dr Witt is now with Department of Pediatrics 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