| http://purl.uniprot.org/citations/7514305 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7514305 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7514305 | http://www.w3.org/2000/01/rdf-schema#comment | "Severe congenital neutropenia (Kostmann syndrome) is characterized by profound absolute neutropenia and a maturation arrest of marrow progenitor cells at the promyelocyte-myelocyte stage. Marrow cells from such patients frequently display a reduced responsiveness to granulocyte-colony-stimulating factor (G-CSF). G-CSF binds to and activates a specific receptor which transduces signals critical for the proliferation and maturation of granulocytic progenitor cells. Here we report the identification of a somatic point mutation in one allele of the G-CSF receptor gene in a patient with severe congenital neutropenia. The mutation results in a cytoplasmic truncation of the receptor. When expressed in murine myeloid cells, the mutant receptor transduced a strong growth signal but, in contrast to the wild-type G-CSF receptor, was defective in maturation induction. The mutant receptor chain may act in a dominant negative manner to block granulocytic maturation."xsd:string |
| http://purl.uniprot.org/citations/7514305 | http://purl.org/dc/terms/identifier | "doi:10.1073/pnas.91.10.4480"xsd:string |
| http://purl.uniprot.org/citations/7514305 | http://purl.org/dc/terms/identifier | "doi:10.1073/pnas.91.10.4480"xsd:string |
| http://purl.uniprot.org/citations/7514305 | http://purl.uniprot.org/core/author | "Dong F."xsd:string |
| http://purl.uniprot.org/citations/7514305 | http://purl.uniprot.org/core/author | "Dong F."xsd:string |
| http://purl.uniprot.org/citations/7514305 | http://purl.uniprot.org/core/author | "Hoefsloot L.H."xsd:string |
| http://purl.uniprot.org/citations/7514305 | http://purl.uniprot.org/core/author | "Hoefsloot L.H."xsd:string |
| http://purl.uniprot.org/citations/7514305 | http://purl.uniprot.org/core/author | "Broeders C.A."xsd:string |
| http://purl.uniprot.org/citations/7514305 | http://purl.uniprot.org/core/author | "Broeders C.A."xsd:string |
| http://purl.uniprot.org/citations/7514305 | http://purl.uniprot.org/core/author | "Lowenberg B."xsd:string |
| http://purl.uniprot.org/citations/7514305 | http://purl.uniprot.org/core/author | "Lowenberg B."xsd:string |
| http://purl.uniprot.org/citations/7514305 | http://purl.uniprot.org/core/author | "Meijer Y."xsd:string |
| http://purl.uniprot.org/citations/7514305 | http://purl.uniprot.org/core/author | "Meijer Y."xsd:string |
| http://purl.uniprot.org/citations/7514305 | http://purl.uniprot.org/core/author | "Schelen A.M."xsd:string |
| http://purl.uniprot.org/citations/7514305 | http://purl.uniprot.org/core/author | "Schelen A.M."xsd:string |
| http://purl.uniprot.org/citations/7514305 | http://purl.uniprot.org/core/author | "Touw I.P."xsd:string |
| http://purl.uniprot.org/citations/7514305 | http://purl.uniprot.org/core/author | "Touw I.P."xsd:string |
| http://purl.uniprot.org/citations/7514305 | http://purl.uniprot.org/core/author | "Veerman A.J."xsd:string |
| http://purl.uniprot.org/citations/7514305 | http://purl.uniprot.org/core/author | "Veerman A.J."xsd:string |
| http://purl.uniprot.org/citations/7514305 | http://purl.uniprot.org/core/date | "1994"xsd:gYear |
| http://purl.uniprot.org/citations/7514305 | http://purl.uniprot.org/core/date | "1994"xsd:gYear |
| http://purl.uniprot.org/citations/7514305 | http://purl.uniprot.org/core/name | "Proc. Natl. Acad. Sci. U.S.A."xsd:string |
| http://purl.uniprot.org/citations/7514305 | http://purl.uniprot.org/core/name | "Proc. Natl. Acad. Sci. U.S.A."xsd:string |