{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T16:48:31Z","timestamp":1790786911175,"version":"4.1.0"},"reference-count":95,"publisher":"The Company of Biologists","issue":"1","license":[{"start":{"date-parts":[[2020,9,3]],"date-time":"2020-09-03T00:00:00Z","timestamp":1599091200000},"content-version":"vor","delay-in-days":1707,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2016,1,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n               <jats:p>Congenital diarrheal disorders are rare, often fatal, diseases that are difficult to diagnose (often requiring biopsies) and that manifest in the first few weeks of life as chronic diarrhea and the malabsorption of nutrients. The etiology of congenital diarrheal disorders is diverse, but several are associated with defects in the predominant intestinal epithelial cell type, enterocytes. These particular congenital diarrheal disorders (CDDENT) include microvillus inclusion disease and congenital tufting enteropathy, and can feature in other diseases, such as hemophagocytic lymphohistiocytosis type 5 and trichohepatoenteric syndrome. Treatment options for most of these disorders are limited and an improved understanding of their molecular bases could help to drive the development of better therapies. Recently, mutations in genes that are involved in normal intestinal epithelial physiology have been associated with different CDDENT. Here, we review recent progress in understanding the cellular mechanisms of CDDENT. We highlight the potential of animal models and patient-specific stem-cell-based organoid cultures, as well as patient registries, to integrate basic and clinical research, with the aim of clarifying the pathogenesis of CDDENT and expediting the discovery of novel therapeutic strategies.<\/jats:p>","DOI":"10.1242\/dmm.022269","type":"journal-article","created":{"date-parts":[[2016,1,8]],"date-time":"2016-01-08T12:33:58Z","timestamp":1452256438000},"page":"1-12","source":"Crossref","is-referenced-by-count":39,"title":["The role of enterocyte defects in the pathogenesis of congenital diarrheal disorders"],"prefix":"10.1242","volume":"9","author":[{"given":"Arend W.","family":"Overeem","sequence":"first","affiliation":[{"name":"University Medical Center Groningen, University of Groningen 1 Department of Cell Biology , , 9713 AV Groningen , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carsten","family":"Posovszky","sequence":"additional","affiliation":[{"name":"University Medical Center Ulm 2 Department of Pediatrics and Adolescent Medicine , , 89075 Ulm , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edmond H. M. M.","family":"Rings","sequence":"additional","affiliation":[{"name":"Erasmus Medical Center Rotterdam, Erasmus University Rotterdam 3 Department of Pediatrics , , 3000 CB Rotterdam , The Netherlands"},{"name":"Leiden University Medical Center, Leiden University 4 Department of Pediatrics , , 2300 RC Leiden , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ben N. G.","family":"Giepmans","sequence":"additional","affiliation":[{"name":"University Medical Center Groningen, University of Groningen 1 Department of Cell Biology , , 9713 AV Groningen , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sven C. 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