| http://purl.uniprot.org/citations/37282854 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/37282854 | http://www.w3.org/2000/01/rdf-schema#comment | "Tylosis with oesophageal cancer (TOC) is a rare familial disorder caused by cytoplasmic mutations in inactive rhomboid 2 (iRhom2 or iR2, encoded by Rhbdf2). iR2 and the related iRhom1 (or iR1, encoded by Rhbdf1) are key regulators of the membrane-anchored metalloprotease ADAM17, which is required for activating EGFR ligands and for releasing pro-inflammatory cytokines such as TNFα (or TNF). A cytoplasmic deletion in iR2, including the TOC site, leads to curly coat or bare skin (cub) in mice, whereas a knock-in TOC mutation (toc) causes less severe alopecia and wavy fur. The abnormal skin and hair phenotypes of iR2cub/cub and iR2toc/toc mice depend on amphiregulin (Areg) and Adam17, as loss of one allele of either gene rescues the fur phenotypes. Remarkably, we found that iR1-/-iR2cub/cub mice survived, despite a lack of mature ADAM17, whereas iR2cub/cub Adam17-/-mice died perinatally, suggesting that the iR2cub gain-of-function mutation requires the presence of ADAM17, but not its catalytic activity. The iR2toc mutation did not substantially reduce the levels of mature ADAM17, but instead affected its function in a substrate-selective manner. Our findings provide new insights into the role of the cytoplasmic domain of iR2 in vivo, with implications for the treatment of TOC patients."xsd:string |
| http://purl.uniprot.org/citations/37282854 | http://purl.org/dc/terms/identifier | "doi:10.1242/jcs.260910"xsd:string |
| http://purl.uniprot.org/citations/37282854 | http://purl.uniprot.org/core/author | "Lichtenthaler S.F."xsd:string |
| http://purl.uniprot.org/citations/37282854 | http://purl.uniprot.org/core/author | "Blobel C.P."xsd:string |
| http://purl.uniprot.org/citations/37282854 | http://purl.uniprot.org/core/author | "Maretzky T."xsd:string |
| http://purl.uniprot.org/citations/37282854 | http://purl.uniprot.org/core/author | "Monette S."xsd:string |
| http://purl.uniprot.org/citations/37282854 | http://purl.uniprot.org/core/author | "Weskamp G."xsd:string |
| http://purl.uniprot.org/citations/37282854 | http://purl.uniprot.org/core/author | "Rabinowitsch A.I."xsd:string |
| http://purl.uniprot.org/citations/37282854 | http://purl.uniprot.org/core/author | "Haxaire C."xsd:string |
| http://purl.uniprot.org/citations/37282854 | http://purl.uniprot.org/core/author | "Tueshaus J."xsd:string |
| http://purl.uniprot.org/citations/37282854 | http://purl.uniprot.org/core/date | "2023"xsd:gYear |
| http://purl.uniprot.org/citations/37282854 | http://purl.uniprot.org/core/name | "J Cell Sci"xsd:string |
| http://purl.uniprot.org/citations/37282854 | http://purl.uniprot.org/core/pages | "jcs260910"xsd:string |
| http://purl.uniprot.org/citations/37282854 | http://purl.uniprot.org/core/title | "Analysis of the function of ADAM17 in iRhom2 curly-bare and tylosis with esophageal cancer mutant mice."xsd:string |
| http://purl.uniprot.org/citations/37282854 | http://purl.uniprot.org/core/volume | "136"xsd:string |
| http://purl.uniprot.org/citations/37282854 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/37282854 |
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