| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 2041708 | CMGH Cellular and Molecular Gastroenterology and Hepatology | 2015 | 21 Pages |
Abstract
The PLVAP p.Arg358* mutation resulted in the loss of PLVAP expression with subsequent deletion of the diaphragms of endothelial fenestrae, which led to plasma protein extravasation, PLE, and ultimately death.
Keywords
PBSFenestraeVery Early Onset Inflammatory Bowel DiseaseVEOIBDVLDLhrGFPEpCAMWESIBDDPBSPLEBSAbovine serum albuminperiodic acid–SchiffSDS-PAGESodium dodecyl sulfate polyacrylamide gel electrophoresisEndotheliumTemmonogenic diseasesInflammatory bowel diseaseWhole-exome sequencingdulbecco’s phosphate-buffered salinevery-low-density lipoproteinPhosphate-buffered salineepithelial cell adhesion moleculeTransmission electron microscopyPAShuman influenza hemagglutininHypertriglyceridemiaHypoalbuminemiaHypoproteinemiapolymerase chain reactionPCRProtein-losing enteropathy
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Authors
Abdul Elkadri, Cornelia Thoeni, Sophie J. Deharvengt, Ryan Murchie, Conghui Guo, James D. Stavropoulos, Christian R. Marshall, Paul Wales, Robert H.J. Bandsma, Ernest Cutz, Chaim M. Roifman, David Chitayat, Yaron Avitzur, Radu V. Stan, Aleixo M. Muise,