Loss of syntaxin 3 causes variant microvillus inclusion disease

Gastroenterology

Volumn 147, Issue 1, 2014, Pages

  Wiegerinck, Caroline L ^a   Janecke, Andreas R ^e,f   Schneeberger, Kerstin ^a   Vogel, Georg F ^g,h   Van Haaften Visser, Désirée Y ^a,c   Escher, Johanna C ^a   Adam, Rüdiger ⁱ   Thöni, Cornelia E ^a,g   Pfaller, Kristian ^h   Jordan, Alexander J ⁱ   Weis, Cleo Aron ^a   Nijman, Isaac J ^d   Monroe, Glen R ^d   Van Hasselt, Peter M ^b   Cutz, Ernest ^a   Klumperman, Judith ^c,d   Clevers, Hans ^a   Nieuwenhuis, Edward E S ^a   Houwen, Roderick H J ^a   Van Haaften, Gijs ^d   Hess, Michael W ^h   Huber, Lukas A ^g   Stapelbroek, Janneke M ^a   Müller, Thomas ^f   Middendorp, Sabine ^a   more..

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b Department of Medical Genetics Molecular and Clinical Pharmacology   (Austria)

^c Innsbruck Medical University ^*  (Austria)

^d INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^e SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^f UNIVERSITY OF HEIDELBERG   (Germany)

^g HOSPITAL FOR SICK CHILDREN   (Canada)

^h UNIVERSITY OF HEIDELBERG   (Germany)

ⁱ UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

Epithelial Polarity; Syntaxin 3; Variant Microvillus Inclusion Disease

Indexed keywords

BICARBONATE; SYNTAXIN; SYNTAXIN 3; UNCLASSIFIED DRUG;

ACIDOSIS; ARTICLE; BASOLATERAL MEMBRANE; CACO 2 CELL LINE; CASE REPORT; CELL CULTURE; CELL INCLUSION; CELL LOSS; CHILD; CHILD GROWTH; CONSANGUINEOUS MARRIAGE; DIARRHEA; DISEASE SEVERITY; DUODENUM BIOPSY; ELECTRON MICROSCOPY; ENTERIC FEEDING; ENTEROPATHY; EXOME; EXON; FEMALE; FRAMESHIFT MUTATION; GENE EXPRESSION; GENE INSERTION; GENE SEQUENCE; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HUMAN CELL; INTESTINE BRUSH BORDER; KIDNEY TUBULE DISORDER; LOOSE FECES; LOSS OF FUNCTION MUTATION; LUNG INFECTION; MALE; METABOLIC ACIDOSIS; MICROSCOPY; MICROVILLUS INCLUSION DISEASE; NONSENSE MUTATION; PAKISTAN; PARENTERAL NUTRITION; PERIODIC ACID SCHIFF STAIN; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DEPLETION; PROTEIN EXPRESSION; RECTUM BIOPSY; SUPPLEMENTATION; TOTAL PARENTERAL NUTRITION; VOMITING; WESTERN BLOTTING;

EPITHELIAL POLARITY; SYNTAXIN 3; VARIANT MICROVILLUS INCLUSION DISEASE;

BIOPSY; CACO-2 CELLS; DUODENUM; FEMALE; HUMANS; INFANT; INTESTINAL MUCOSA; MALABSORPTION SYNDROMES; MALE; MICROVILLI; MUCOLIPIDOSES; MUTATION; ORGAN CULTURE TECHNIQUES; QA-SNARE PROTEINS;

EID: 84902957441     PISSN: 00165085     EISSN: 15280012     Source Type: Journal    
DOI: 10.1053/j.gastro.2014.04.002     Document Type: Article

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