| http://purl.uniprot.org/citations/20616219 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20616219 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20616219 | http://www.w3.org/2000/01/rdf-schema#comment | "Mutations in more than 15 genes are now known to cause severe congenital neutropenia (SCN); however, the pathologic mechanisms of most genetic defects are not fully defined. Deficiency of G6PC3, a glucose-6-phosphatase, causes a rare multisystem syndrome with SCN first described in 2009. We identified a family with 2 children with homozygous G6PC3 G260R mutations, a loss of enzymatic function, and typical syndrome features with the exception that their bone marrow biopsy pathology revealed abundant neutrophils consistent with myelokathexis. This pathologic finding is a hallmark of another type of SCN, WHIM syndrome, which is caused by gain-of-function mutations in CXCR4, a chemokine receptor and known neutrophil bone marrow retention factor. We found markedly increased CXCR4 expression on neutrophils from both our G6PC3-deficient patients and G6pc3(-/-) mice. In both patients, granulocyte colony-stimulating factor treatment normalized CXCR4 expression and neutrophil counts. In G6pc3(-/-) mice, the specific CXCR4 antagonist AMD3100 rapidly reversed neutropenia. Thus, myelokathexis associated with abnormally high neutrophil CXCR4 expression may contribute to neutropenia in G6PC3 deficiency and responds well to granulocyte colony-stimulating factor."xsd:string |
| http://purl.uniprot.org/citations/20616219 | http://purl.org/dc/terms/identifier | "doi:10.1182/blood-2010-01-265942"xsd:string |
| http://purl.uniprot.org/citations/20616219 | http://purl.org/dc/terms/identifier | "doi:10.1182/blood-2010-01-265942"xsd:string |
| http://purl.uniprot.org/citations/20616219 | http://purl.uniprot.org/core/author | "Liu Q."xsd:string |
| http://purl.uniprot.org/citations/20616219 | http://purl.uniprot.org/core/author | "Liu Q."xsd:string |
| http://purl.uniprot.org/citations/20616219 | http://purl.uniprot.org/core/author | "Murphy P.M."xsd:string |
| http://purl.uniprot.org/citations/20616219 | http://purl.uniprot.org/core/author | "Murphy P.M."xsd:string |
| http://purl.uniprot.org/citations/20616219 | http://purl.uniprot.org/core/author | "Paul S.M."xsd:string |
| http://purl.uniprot.org/citations/20616219 | http://purl.uniprot.org/core/author | "Paul S.M."xsd:string |
| http://purl.uniprot.org/citations/20616219 | http://purl.uniprot.org/core/author | "Malech H.L."xsd:string |
| http://purl.uniprot.org/citations/20616219 | http://purl.uniprot.org/core/author | "Malech H.L."xsd:string |
| http://purl.uniprot.org/citations/20616219 | http://purl.uniprot.org/core/author | "Jun H.S."xsd:string |
| http://purl.uniprot.org/citations/20616219 | http://purl.uniprot.org/core/author | "Jun H.S."xsd:string |
| http://purl.uniprot.org/citations/20616219 | http://purl.uniprot.org/core/author | "Kuhns D.B."xsd:string |
| http://purl.uniprot.org/citations/20616219 | http://purl.uniprot.org/core/author | "Kuhns D.B."xsd:string |
| http://purl.uniprot.org/citations/20616219 | http://purl.uniprot.org/core/author | "McDermott D.H."xsd:string |
| http://purl.uniprot.org/citations/20616219 | http://purl.uniprot.org/core/author | "McDermott D.H."xsd:string |
| http://purl.uniprot.org/citations/20616219 | http://purl.uniprot.org/core/author | "Chou J.Y."xsd:string |
| http://purl.uniprot.org/citations/20616219 | http://purl.uniprot.org/core/author | "Chou J.Y."xsd:string |
| http://purl.uniprot.org/citations/20616219 | http://purl.uniprot.org/core/author | "De Ravin S.S."xsd:string |
| http://purl.uniprot.org/citations/20616219 | http://purl.uniprot.org/core/author | "De Ravin S.S."xsd:string |
| http://purl.uniprot.org/citations/20616219 | http://purl.uniprot.org/core/author | "Dunsmore K.P."xsd:string |
| http://purl.uniprot.org/citations/20616219 | http://purl.uniprot.org/core/author | "Dunsmore K.P."xsd:string |