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

Article ID	Journal	Published Year	Pages	File Type
3293314	Gastroenterology	2012	13 Pages	PDF

Abstract

Loss-of-function mutations in CLMP cause CSBS in human beings, likely by interfering with tight-junction formation, which disrupts intestinal development. Furthermore, we developed a zebrafish model of CSBS.

Keywords

CLMP ZO-1 SBS hpf Asam Cho Genetic analysis Chinese Hamster Ovary Embryology reverse transcription hours post fertilization Short-Bowel Syndrome zonula occludens 1 Animal model wild type polymerase chain reaction PCR Single-nucleotide polymorphism SNP

Related Topics

Health Sciences Medicine and Dentistry Gastroenterology

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

Authors

Christine S. Van Der Werf, Tara D. Wabbersen, Nai-Hua Hsiao, Joana Paredes, Heather C. Etchevers, Peter M. Kroisel, Dick Tibboel, Candice Babarit, Richard A. Schreiber, Edward J. Hoffenberg, Michel Vekemans, Sirkka L. Zeder, Isabella Ceccherini,