CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome

Gastroenterology

Volumn 142, Issue 3, 2012, Pages 453-462.e3

  Van Der Werf, Christine S ^a   Wabbersen, Tara D ^b   Hsiao, Naihua ^a   Paredes, Joana ^c   Etchevers, Heather C ^d   Kroisel, Peter M ^e   Tibboel, Dick ^f   Babarit, Candice ^d   Schreiber, Richard A ^g   Hoffenberg, Edward J ^h   Vekemans, Michel ^d   Zeder, Sirkka L ^e   Ceccherini, Isabella ⁱ   Lyonnet, Stanislas ^d   Ribeiro, Ana S ^c   Seruca, Raquel ^c   Te Meerman, Gerard J ^a   Van Ijzendoorn, Sven C D ^a   Shepherd, Iain T ^b   Verheij, Joke B G M ^a   Hofstra, Robert M W ^a   more..

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b EMORY UNIVERSITY   (United States)

^c UNIVERSITY OF PORTO   (Portugal)

^d INSERM   (France)

^e MEDICAL UNIVERSITY OF GRAZ   (Austria)

^f SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^g BC CHILDREN S HOSPITAL   (Canada)

^h University of Colorado Denver and Children s Hospital Colorado   (United States)

ⁱ G GASLINI INSTITUTE   (Italy)

Author keywords

Animal Model; ASAM; Embryology; Genetic Analysis

Indexed keywords

COXSACKIE VIRUS AND ADENOVIRUS RECEPTOR LIKE MEMBRANE PROTEIN; GENOMIC DNA; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CELL MEMBRANE; CHILD; CHO CELL; CLINICAL ARTICLE; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; EMBRYO; EMBRYO DEVELOPMENT; EXPERIMENTAL MODEL; FEMALE; FETUS; FRAMESHIFT MUTATION; GENE DELETION; GENE FUNCTION; GENE MAPPING; GENE OVEREXPRESSION; GENE PRODUCT; GENETIC SCREENING; GENOME ANALYSIS; GOBLET CELL; HEREDITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INFANT; INTESTINE; INTESTINE DEVELOPMENT; INTESTINE EPITHELIUM CELL; LOSS OF FUNCTION MUTATION; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEWBORN; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; ORGANOGENESIS; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SHORT BOWEL SYNDROME; SINGLE NUCLEOTIDE POLYMORPHISM; SPLICING DEFECT; TIGHT JUNCTION; ZEBRA FISH;

EID: 84857636412     PISSN: 00165085     EISSN: 15280012     Source Type: Journal    
DOI: 10.1053/j.gastro.2011.11.038     Document Type: Article

References (20)

1. J. Fitzsimmons, A. Chin, T.H. Shepard Normal length of the human fetal gastrointestinal tract Pediatrics 132 1998 80 84
2. C.W. Reiquam, R.P. Allen, D.R. Akers Normal and abnormal small bowel lengths: an analysis of 389 autopsy cases in infants and children Am J Dis Child 109 1965 447 451
3. J.R. Siebert Small-intestine length in infants and children Am J Dis Child 134 1980 593 595
4. W.A. Huysman, D. Tibboel, J.H. Bergmeijer Long-term survival of a patient with congenital short bowel and malrotation J Pediatr Surg 26 1991 103 105
5. P. Ordonez, J.M. Sondheimer, S. Fidanza Long-term outcome of a patient with congenital short bowel syndrome J Pediatr Gastroenterol Nutr 42 2006 576 580
6. M. Hasosah, D.A. Lemberg, E. Skarsgard Congenital short bowel syndrome: a case report and review of the literature Can J Gastroenterol 22 2008 71 74
7. J. Schalamon, P.H. Schober, P. Gallippi Congenital short-bowel; a case study and review of the literature Eur J Pediatr Surg 9 1999 248 250
8. S. Moretti, F. Armougom, I.M. Wallace The M-Coffee web server: a meta-method for computing multiple sequence alignments by combining alignment methods Nucleic Acids Res 35 2007 W645 W648
9. M.J. Betts, R.B. Russell Amino acid properties and consequences of substitutions M.R. Barnes, I.C. Gray, Bioinformatics for Geneticists 2003 Wiley
10. M. Westerfield The Zebrafish Book 1993 University of Oregon Press Eugene, OR
11. C. Thisse, B. Thisse, T.F. Schilling Structure of the zebrafish snail1 gene and its expression in wild-type, spadetail and no tail mutant embryos Development 119 1993 1203 1215
12. A. Nasevicisu, S.C. Ekker Effective targeted gene 'knockdown' in zebrafish Nat Genet 26 2000 216 220
13. E. Raschperger, U. Engstrom, R.F. Pettersson CLMP, a novel member of the CTX family and a new component of epithelial tight junctions J Biol Chem 279 2004 796 804
14. A.N. Ng, T.A. de Jong-Curtain, D.J. Mawdsley Formation of the digestive system in zebrafish: III Intestinal epithelium morphogenesis Dev Biol 286 2005 114 135
15. M.S. Balda, K. Matter The tight junction protein ZO-1 and an interacting transcription factor regulate ErbB-2 expression EMBO J 19 2000 2024 2033
16. K. Matter, M.S. Balda Signalling to and from tight junctions Nat Rev Mol Cell Biol 4 2003 225 366
17. P.W. Wales, A. Nasr, N. de Silva Human growth hormone and glutamine for patients with short bowel syndrome Cochrane Database Syst Rev 6 2010 CD006321
18. H. Yang, B.E. Wildhaber, D.H. Teitelbaum Keratinocyte growth factor improves epithelial function after massive small bowel resection JPEN J Parenter Enteral Nutr 27 2003 198 206
19. Y. Kato, D. Yu, M.Z. Schwartz Enhancement of intestinal adaptation by hepatocyte growth factor J Pediatr Surg 33 1998 235 239
20. G.R. Martin, P.L. Beck, D.L. Sigalet Gut hormones, and short bowel syndrome: the enigmatic role of glucagon-like peptide-2 in regulation of intestinal adaptation World J Gastroenterol 12 2006 4117 4129