| http://purl.uniprot.org/citations/27182967 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/27182967 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/27182967 | http://www.w3.org/2000/01/rdf-schema#comment | "Adrenal hypoplasia is a rare, life-threatening congenital disorder. Here we define a new form of syndromic adrenal hypoplasia, which we propose to term MIRAGE (myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy) syndrome. By exome sequencing and follow-up studies, we identified 11 patients with adrenal hypoplasia and common extra-adrenal features harboring mutations in SAMD9. Expression of the wild-type SAMD9 protein, a facilitator of endosome fusion, caused mild growth restriction in cultured cells, whereas expression of mutants caused profound growth inhibition. Patient-derived fibroblasts had restricted growth, decreased plasma membrane EGFR expression, increased size of early endosomes, and intracellular accumulation of giant vesicles carrying a late endosome marker. Of interest, two patients developed myelodysplasitc syndrome (MDS) that was accompanied by loss of the chromosome 7 carrying the SAMD9 mutation. Considering the potent growth-restricting activity of the SAMD9 mutants, the loss of chromosome 7 presumably occurred as an adaptation to the growth-restricting condition."xsd:string |
| http://purl.uniprot.org/citations/27182967 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng.3569"xsd:string |
| http://purl.uniprot.org/citations/27182967 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng.3569"xsd:string |
| http://purl.uniprot.org/citations/27182967 | http://purl.uniprot.org/core/author | "Amano N."xsd:string |
| http://purl.uniprot.org/citations/27182967 | http://purl.uniprot.org/core/author | "Amano N."xsd:string |
| http://purl.uniprot.org/citations/27182967 | http://purl.uniprot.org/core/author | "Inoue H."xsd:string |
| http://purl.uniprot.org/citations/27182967 | http://purl.uniprot.org/core/author | "Inoue H."xsd:string |
| http://purl.uniprot.org/citations/27182967 | http://purl.uniprot.org/core/author | "Fukami M."xsd:string |
| http://purl.uniprot.org/citations/27182967 | http://purl.uniprot.org/core/author | "Fukami M."xsd:string |
| http://purl.uniprot.org/citations/27182967 | http://purl.uniprot.org/core/author | "Hara T."xsd:string |
| http://purl.uniprot.org/citations/27182967 | http://purl.uniprot.org/core/author | "Hara T."xsd:string |
| http://purl.uniprot.org/citations/27182967 | http://purl.uniprot.org/core/author | "Ihara K."xsd:string |
| http://purl.uniprot.org/citations/27182967 | http://purl.uniprot.org/core/author | "Ihara K."xsd:string |
| http://purl.uniprot.org/citations/27182967 | http://purl.uniprot.org/core/author | "Hasegawa T."xsd:string |
| http://purl.uniprot.org/citations/27182967 | http://purl.uniprot.org/core/author | "Hasegawa T."xsd:string |
| http://purl.uniprot.org/citations/27182967 | http://purl.uniprot.org/core/author | "Katsumata N."xsd:string |
| http://purl.uniprot.org/citations/27182967 | http://purl.uniprot.org/core/author | "Katsumata N."xsd:string |
| http://purl.uniprot.org/citations/27182967 | http://purl.uniprot.org/core/author | "Kudoh J."xsd:string |
| http://purl.uniprot.org/citations/27182967 | http://purl.uniprot.org/core/author | "Kudoh J."xsd:string |
| http://purl.uniprot.org/citations/27182967 | http://purl.uniprot.org/core/author | "Matsumoto N."xsd:string |
| http://purl.uniprot.org/citations/27182967 | http://purl.uniprot.org/core/author | "Matsumoto N."xsd:string |
| http://purl.uniprot.org/citations/27182967 | http://purl.uniprot.org/core/author | "Tanaka Y."xsd:string |
| http://purl.uniprot.org/citations/27182967 | http://purl.uniprot.org/core/author | "Tanaka Y."xsd:string |