Article
Defective internalization and sustained activation of truncated granulocyte colony-stimulating factor receptor found in severe congenital neutropenia/acute myeloid leukemia.
Blood - 15 Jan 1999
Ward A C, van Aesch Y M, Schelen A M, Touw I P
Abstract excerpt
Acquired mutations truncating the C-terminal domain of the granulocyte colony-stimulating factor receptor (G-CSF-R) are found in about 20% of severe congenital neutropenia (SCN) patients, with this cohort of patients predisposed to acute myeloid leukemia (AML). In myeloid cells, such mutations ac...
Topics
- Animals
- Cytochalasin D
- DNA Mutational Analysis
- DNA-Binding Proteins
- Granulocyte Colony-Stimulating Factor
- Humans
- Leucine
- Leukemia, Myeloid, Acute
- Mice
- Milk Proteins
- Mutagenesis, Site-Directed
- Mutation
- Neutropenia
- Receptors, Granulocyte Colony-Stimulating Factor
- STAT1 Transcription Factor
- STAT3 Transcription Factor
- STAT5 Transcription Factor
- Structure-Activity Relationship