CLMP Is Required for Intestinal Development, and Loss-of-Function Mutations Cause Congenital Short-Bowel Syndrome

Background & Aims Short-bowel syndrome usually results from surgical resection of the small intestine for diseases such as intestinal atresias, volvulus, and necrotizing enterocolitis. Patients with congenital short-bowel syndrome (CSBS) are born with a substantial shortening of the small intest...

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Veröffentlicht in:	Gastroenterology (New York, N.Y. 1943) N.Y. 1943), 2012-03, Vol.142 (3), p.453-462.e3
Hauptverfasser:	Van Der Werf, Christine S, Wabbersen, Tara D, Hsiao, Nai–Hua, Paredes, Joana, Etchevers, Heather C, Kroisel, Peter M, Tibboel, Dick, Babarit, Candice, Schreiber, Richard A, Hoffenberg, Edward J, Vekemans, Michel, Zeder, Sirkka L, Ceccherini, Isabella, Lyonnet, Stanislas, Ribeiro, Ana S, Seruca, Raquel, te Meerman, Gerard J, van Ijzendoorn, Sven C.D, Shepherd, Iain T, Verheij, Joke B.G.M, Hofstra, Robert M.W
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Animal Model Animals ASAM Child Child, Preschool CHO Cells Coxsackie and Adenovirus Receptor-Like Membrane Protein Cricetinae Cricetulus Disease Models, Animal Embryology Female Gastroenterology and Hepatology Gene Expression Regulation, Developmental Genetic Analysis Genetic Predisposition to Disease Heterozygote Homozygote Humans Infant Infant, Newborn Intestine, Small - abnormalities Intestine, Small - metabolism Male Morphogenesis Mutation, Missense Phenotype Polymorphism, Single Nucleotide Receptors, Virus - genetics Receptors, Virus - metabolism Short Bowel Syndrome - embryology Short Bowel Syndrome - genetics Short Bowel Syndrome - metabolism Short Bowel Syndrome - pathology Transfection Young Adult Zebrafish - embryology Zebrafish - genetics Zebrafish - metabolism Zebrafish Proteins - genetics Zebrafish Proteins - metabolism
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