Advances in understanding the pathogenesis of familial thrombocythaemia

Familial Myeloproliferative Disease

(2010) P. H. Th. J. Slee et al.   ACTA MEDICA SCANDINAVICA

Novel mutations in the inhibitory adaptor protein LNK drive JAK-STAT signaling in patients with myeloproliferative neoplasms

(2010) S. T. Oh et al.   BLOOD

Familial thrombocytosis

(2010) M. Kikuchi et al.   BRITISH JOURNAL OF HAEMATOLOGY

Benign familial microcytic thrombocytosis with autosomal dominant transmission

(2010) Natan Cohen et al.   CLINICAL GENETICS

Megakaryopoiesis

(2010) Amy E. Geddis   SEMINARS IN HEMATOLOGY

Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation

(2009) C. Graziano et al.   BLOOD

Induction of myeloproliferative disorder and myelofibrosis by thrombopoietin receptor W515 mutants is mediated by cytosolic tyrosine 112 of the receptor

(2009) C. Pecquet et al.   BLOOD

The Asn505 mutation of the c-MPL gene, which causes familial essential thrombocythemia, induces autonomous homodimerization of the c-Mpl protein due to strong amino acid polarity

(2009) J. Ding et al.   BLOOD

Ubiquitination and degradation of the thrombopoietin receptor c-Mpl

(2009) S. J. Saur et al.   BLOOD

Advances in the understanding of congenital amegakaryocytic thrombocytopenia

(2009) Matthias Ballmaier et al.   BRITISH JOURNAL OF HAEMATOLOGY

Hereditary thrombocytosis caused by MPLSer505Asn is associated with a high thrombotic risk, splenomegaly and progression to bone marrow fibrosis

(2009) L. Teofili et al.   HAEMATOLOGICA

Evidence for a founder effect of the MPL-S505N mutation in eight Italian pedigrees with hereditary thrombocythemia

(2009) K. Liu et al.   HAEMATOLOGICA

Ligand-independent Thrombopoietin Mutant Receptor Requires Cell Surface Localization for Endogenous Activity

(2009) Caroline Marty et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Molecular mechanisms of thrombopoietin signaling

(2009) K. KAUSHANSKY   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

A common JAK2 haplotype confers susceptibility to myeloproliferative neoplasms

(2009) Damla Olcaydu et al.   NATURE GENETICS

JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms

(2009) Amy V Jones et al.   NATURE GENETICS

Thrombocytosis

(2009) R. C. Skoda   Hematology-American Society of Hematology Education Program

Genetic origins and clinical phenotype of familial and acquired erythrocytosis and thrombocytosis

(2008) Melanie J. Percy et al.   AMERICAN JOURNAL OF HEMATOLOGY

Characteristics and clinical correlates of MPL 515W>L/K mutation in essential thrombocythemia

(2008) A. M. Vannucchi et al.   BLOOD

MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort

(2008) P. A. Beer et al.   BLOOD

Increased risks of polycythemia vera, essential thrombocythemia, and myelofibrosis among 24 577 first-degree relatives of 11 039 patients with myeloproliferative neoplasms in Sweden

(2008) O. Landgren et al.   BLOOD

Pronounced thrombocytosis in transgenic mice expressing reduced levels of Mpl in platelets and terminally differentiated megakaryocytes

(2008) R. Tiedt et al.   BLOOD

Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in theMPLgene

(2008) El-Harith Abdelghaffar El-Harith et al.   BRITISH JOURNAL OF HAEMATOLOGY

Transcriptional regulation of bone marrow thrombopoietin by platelet proteins

(2008) Bryan McIntosh et al.   EXPERIMENTAL HEMATOLOGY

Childhood polycythemia vera and essential thrombocythemia: does their pathogenesis overlap with that of adult patients?

(2008) L. Teofili et al.   HAEMATOLOGICA

Molecular basis of thrombocytosis

(2008) M. Cazzola   HAEMATOLOGICA

A de novo splice donor mutation in the thrombopoietin gene causes hereditary thrombocythemia in a Polish family

(2008) K. Liu et al.   HAEMATOLOGICA

Familial chronic myeloproliferative disorders: the state of the art

(2008) Elisa Rumi   HEMATOLOGICAL ONCOLOGY

Evidence and expertise in the management of polycythemia vera and essential thrombocythemia

(2008) G Finazzi et al.   LEUKEMIA

Familial essential thrombocythemia with spontaneous megakaryocyte colony formation and acquired JAK2 mutations

(2008) J R Higgs et al.   LEUKEMIA

New mutations of MPL in primitive myelofibrosis: only the MPL W515 mutations promote a G1/S-phase transition

(2008) R Chaligné et al.   LEUKEMIA

Essential thrombocythemia in a child with elevated thrombopoietin concentrations and skeletal anomalies

(2007) Edwin B. Robins et al.   PEDIATRIC BLOOD & CANCER