c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia

Blood

Volumn 97, Issue 1, 2001, Pages 139-146

  Ballmaier, Matthias ^a   Germeshausen, Manuela ^a   Schulze, Harald ^a   Cherkaoui, Klara ^a   Lang, Sabine ^a   Gaudig, Annika ^a   Krukemeier, Stephanie ^a   Eilers, Martin ^a   Strauß, Gabriele ^a   Welte, Karl ^a  

^a HANNOVER MEDICAL SCHOOL   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

THROMBOPOIETIN;

ARTICLE; CHILD; FEMALE; HUMAN; HUMAN CELL; INFANT; MALE; MEGAKARYOCYTE; NONSENSE MUTATION; PANCYTOPENIA; POINT MUTATION; PRIORITY JOURNAL; THROMBOCYTE COUNT; THROMBOCYTOPENIA;

EID: 0035174334     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.V97.1.139     Document Type: Article

References (30)

1. The bone marrow failure syndromes
2. Inherited bone marrow failure syndromes
3. Congenital amegakaryocytic thrombocytopenia: An intrinsic hematopoietic stem cell defect
4. Serum thrombopoietin (TPO) levels in patients with amegakaryocytic thrombocylopenia are much higher than those with immune thrombocytopenic purpura
5. Serum levels of thrombopoietin, IL-11, and IL-6 in pediatric thrombocytopenias
6. Defective response to thrombopoietin and impaired expression of c-mpl mRNA of bone marrow cells in congenital amegakaryocytic thrombocytopenia
7. Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia
8. Quantitation and characterization of human megakaryocyte colony-forming cells using a standardized serum-free agarose assay
9. Sensitive measurement of thrombopoietin by a monoclonal antibody based sandwich enzyme-linked immunosorbent assay
10. Identification and cloning of a megakaryocyte growth and development factor that is a ligand for the cytokine receptor Mpl
11. Thrombopoietin in patients with congenital thrombocytopenia and absent radii: Elevated serum levels, normal receptor expression, but defective reactivity to thrombopoietin
12. Recombinant thrombopoietin induces rapid protein tyrosine phosphorylation of Janus kinase 2 and Shc in human blood platelets
13. Molecular cloning and characterization of MPL, the human homolog of the v-mpl oncogene: Identification of a member of the hematopoietic growth factor receptor superfamily
14. Influence of thrombopoietin on platelet activation in myeloproliferative disorders
15. Impaired expression of the thrombopoietin receptor by platelets form patients with polycythemia vera
16. Mutational screening of thrombopoietin receptor gene (c-mpl) in patients with congenital thrombocytopenia and absent radii (TAR)
17. Mutations in the thrombopoietin receptor gene, Mp, in children with congenital amegakaryocytic thrombocytopenia
18. Thrombocytopenia in c-mpl-deficient mice
19. Low levels of erythroid and myeloid progenitors in thrombopoietin- and c-mpl-deficient mice
20. Normal platelets and megakayocytes are produced in vivo in the absence of thrombopoietin
21. The diagnostic value of thrombopoietin level measurements in thrombocytopenia
22. Deficiencies in progenitor cells of multiple hematopoietic lineages and defective megakaryocytopoiesis in mice lacking the thrombopoietin receptor c-Mpl
23. Hematopoietic stem cell deficiencies in mice lacking c-Mpl, the receptor for thrombopoietin
24. Thrombopoietin, the ligand for the Mpl receptor, synergizes with steel factor and other early acting cytokines in supporting proliferation of primitive hematopoietic progenitors of mice
25. The effect of thrombopoietin on the proliferation and differentiation of murine hematopoietic stem cells
26. Thrombopoietin supports proliferation of human primitive hematopoietic cells in synergy with steel factor and/or interleukin-3
27. - bone marrow cells with multilineage potential at the single cell level: Key role of thrombopoietin
28. Role of c-mpl in early hematopoiesis
29. Effects of interleukin-3 and granulocyte-macrophage colony-stimulating factor on thrombopoiesis in congenital amegakaryocytic thrombocytopenia
30. Phase I/II trial of PIXY321 (granulocyte-macrophage colony stimulating factor/interleukin-3 fusion protein) for treatment of inherited and acquired marrow failure syndromes