| http://purl.uniprot.org/citations/19620628 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/19620628 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/19620628 | http://www.w3.org/2000/01/rdf-schema#comment | "We identify an autosomal mutation in the CSF3R gene in a family with a chronic neutrophilia. This T617N mutation energetically favors dimerization of the granulocyte colony-stimulating factor (G-CSF) receptor transmembrane domain, and thus, strongly promotes constitutive activation of the receptor and hypersensitivity to G-CSF for proliferation and differentiation, which ultimately leads to chronic neutrophilia. Mutant hematopoietic stem cells yield a myeloproliferative-like disorder in xenotransplantation and syngenic mouse bone marrow engraftment assays. The survey of 12 affected individuals during three generations indicates that only one patient had a myelodysplastic syndrome. Our data thus indicate that mutations in the CSF3R gene can be responsible for hereditary neutrophilia mimicking a myeloproliferative disorder."xsd:string |
| http://purl.uniprot.org/citations/19620628 | http://purl.org/dc/terms/identifier | "doi:10.1084/jem.20090693"xsd:string |
| http://purl.uniprot.org/citations/19620628 | http://purl.org/dc/terms/identifier | "doi:10.1084/jem.20090693"xsd:string |
| http://purl.uniprot.org/citations/19620628 | http://purl.uniprot.org/core/author | "Itaya M."xsd:string |
| http://purl.uniprot.org/citations/19620628 | http://purl.uniprot.org/core/author | "Itaya M."xsd:string |
| http://purl.uniprot.org/citations/19620628 | http://purl.uniprot.org/core/author | "Zhang Y."xsd:string |
| http://purl.uniprot.org/citations/19620628 | http://purl.uniprot.org/core/author | "Zhang Y."xsd:string |
| http://purl.uniprot.org/citations/19620628 | http://purl.uniprot.org/core/author | "Constantinescu S.N."xsd:string |
| http://purl.uniprot.org/citations/19620628 | http://purl.uniprot.org/core/author | "Constantinescu S.N."xsd:string |
| http://purl.uniprot.org/citations/19620628 | http://purl.uniprot.org/core/author | "Smith S.O."xsd:string |
| http://purl.uniprot.org/citations/19620628 | http://purl.uniprot.org/core/author | "Smith S.O."xsd:string |
| http://purl.uniprot.org/citations/19620628 | http://purl.uniprot.org/core/author | "Boulet J.M."xsd:string |
| http://purl.uniprot.org/citations/19620628 | http://purl.uniprot.org/core/author | "Boulet J.M."xsd:string |
| http://purl.uniprot.org/citations/19620628 | http://purl.uniprot.org/core/author | "Debili N."xsd:string |
| http://purl.uniprot.org/citations/19620628 | http://purl.uniprot.org/core/author | "Debili N."xsd:string |
| http://purl.uniprot.org/citations/19620628 | http://purl.uniprot.org/core/author | "Le Couedic J.P."xsd:string |
| http://purl.uniprot.org/citations/19620628 | http://purl.uniprot.org/core/author | "Le Couedic J.P."xsd:string |
| http://purl.uniprot.org/citations/19620628 | http://purl.uniprot.org/core/author | "Louache F."xsd:string |
| http://purl.uniprot.org/citations/19620628 | http://purl.uniprot.org/core/author | "Louache F."xsd:string |
| http://purl.uniprot.org/citations/19620628 | http://purl.uniprot.org/core/author | "Nakatake M."xsd:string |
| http://purl.uniprot.org/citations/19620628 | http://purl.uniprot.org/core/author | "Nakatake M."xsd:string |
| http://purl.uniprot.org/citations/19620628 | http://purl.uniprot.org/core/author | "Plo I."xsd:string |
| http://purl.uniprot.org/citations/19620628 | http://purl.uniprot.org/core/author | "Plo I."xsd:string |