Hereditary thrombocythaemia is a genetically heterogeneous disorder: Exclusion of TPO and MPL in two families with hereditary thrombocythaemia

British Journal of Haematology

Volumn 110, Issue 1, 2000, Pages 104-109

  Wiestner, A ^a   Padosch, S A ^a   Ghilardi, N ^a   Cesar, J M ^b   Odriozola, J ^b   Shapiro, A ^c   Skoda, R C ^a,d  

^a UNIVERSITY OF BASEL   (Switzerland)

^b HOSPITAL RAMÓN Y CAJAL   (Spain)

^c INDIANA HEMOPHILIA AND THROMBOSIS CENTER   (United States)

^d UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

Familial essential thrombocythaemia; MPL gene specific polymorphism; Myeloproliferative disorder; Thrombopoietin; TIE gene specific polymorphism

Indexed keywords

MICROSATELLITE DNA; THROMBOPOIETIN; TYROSINE KINASE RECEPTOR;

ADULT; ARTICLE; CLINICAL ARTICLE; ENDOTHELIUM CELL; FAMILIAL DISEASE; FAMILY STUDY; FEMALE; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; GENETIC LINKAGE; HUMAN; MALE; MEGAKARYOCYTE; MYELOPROLIFERATIVE DISORDER; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SPAIN; THROMBOCYTOPENIA; UNITED STATES;

ADULT; ENZYME-LINKED IMMUNOSORBENT ASSAY; FEMALE; HUMANS; LINKAGE (GENETICS); MALE; MUTATION; SEQUENCE ANALYSIS, DNA; THROMBOCYTOSIS; THROMBOPOIETIN;

EID: 0033897370     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2000.02169.x     Document Type: Article

References (32)

1. Point mutations within a dimer interface homology domain of c-Mpl induce constitutive receptor activity and tumorigenicity
2. The Tie receptor tyrosine kinase is expressed by human hematopoietic progenitor cells and by a subset of megakaryocytic cells
3. Thrombopoietin levels in patients with primary and reactive thrombocytosis
4. Positional cloning moves from perditional to traditional
5. Familial essential thrombocythemia
6. Familial essential thrombocythemia
7. Thrombocythaemia: Familial occurrence and transition into blastic crisis
8. Thrombopoietin production is inhibited by a translational mechanism
9. Hereditary thrombocythemia in a Japanese family is caused by a novel point mutation in the thrombopoietin gene
10. Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease): New insights in pathogenesis, complications, and treatment (see comments)
11. The activating splice mutation in intron 3 of the thrombopoietin gene is not found in patients with non-familial essential thrombocythaemia
12. Tie endothelial cell-specific receptor tyrosine kinase is up-regulated in the vasculature of arteriovenous malformations
13. Markedly reduced expression of platelet c-mpl receptor in essential thrombocythemia
14. Essential thrombocythemia in two sisters originating from different stem cell levels
15. Familial thrombocytosis
16. Study of the thrombopoietin receptor in essential thrombocythemia
17. Familial essential thrombocythemia associated with one-base deletion in the 5'-untranslated region of the thrombopoietin gene
18. Genes for thrombopoietin and c-mpl are not responsible for familial thrombocythaemia: A case study
19. The human homolog of the myeloproliferative virus maps to chromosome band 1p34
20. Proto-oncogene c-mpl is involved in spontaneous megakaryocytopoiesis in myeloproliferative disorders
21. Identification of an oncogenic form of the thrombopoietin receptor MPL using retrovirus-mediated gene transfer
22. A novel endothelial cell surface receptor tyrosine kinase with extracellular epidermal growth factor homology domains
23. Distinct roles of the receptor tyrosine kinases Tie-1 and Tie-2 in blood vessel formation
24. Familial essential thrombocythemia: Clinical characteristics of 11 cases in one family
25. Familial myeloproliferative disease
26. A putative truncated cytokine receptor gene transduced by the myeloproliferative leukemia virus immortalizes hematopoietic progenitors
27. A sensitive sandwich ELISA for measuring thrombopoietin in human serum: Serum thrombopoietin levels in healthy volunteers and in patients with haemopoietic disorders
28. Autonomous megakaryocyte growth in essential thrombocythemia and idiopathic myelofibrosis is not related to a c-mpl mutation or to an autocrine stimulation by Mpl-L
29. Familial essential thrombocythemia associated with von Willebrand disease (letter; article in Spanish)
30. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction
31. MPLV: A retrovirus complex inducing an acute myeloproliferative leukemic disorder in adult mice
32. An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia