JAK and MPL mutations in myeloid malignancies (Q33378737)

26 July 2017

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title

JAK and MPL mutations in myeloid malignancies (English)

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26 July 2017

1

Ayalew Tefferi

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PubMed ID

18297515

26 July 2017

language of work or name

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1 March 2008

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26 July 2017

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26 July 2017

49

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26 July 2017

3

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26 July 2017

388-397

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The World Health Organization (WHO) classification of the myeloid neoplasms

26 July 2017

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https://api.crossref.org/works/10.1080%2F10428190801895360

Classification and diagnosis of myeloproliferative neoplasms: the 2008 World Health Organization criteria and point-of-care diagnostic algorithms

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

The history of myeloproliferative disorders: before and after Dameshek

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

A gain-of-function mutation of JAK2 in myeloproliferative disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Activating alleles of JAK3 in acute megakaryoblastic leukemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

The pseudokinase domain is required for suppression of basal activity of Jak2 and Jak3 tyrosine kinases and for cytokine-inducible activation of signal transduction

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Tyrosine phosphorylation of Jak2 in the JH2 domain inhibits cytokine signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

JAK-STAT signaling: from interferons to cytokines

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Crystal structure of the Jak3 kinase domain in complex with a staurosporine analog

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

The N-terminal domain of Janus kinase 2 is required for Golgi processing and cell surface expression of erythropoietin receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Negative regulation of the JAK/STAT pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Regulation of JAK-STAT signalling in the immune system

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

CIS3/SOCS-3 suppresses erythropoietin (EPO) signaling by binding the EPO receptor and JAK2

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Mutation of the SHP-2 binding site in growth hormone (GH) receptor prolongs GH-promoted tyrosyl phosphorylation of GH receptor, JAK2, and STAT5B

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Jak2 is essential for signaling through a variety of cytokine receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Generation of a conditional knockout allele for the Janus kinase 2 (Jak2) gene in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Jak2 deficiency defines an essential developmental checkpoint in definitive hematopoiesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Disruption of the Jak1 gene demonstrates obligatory and nonredundant roles of the Jaks in cytokine-induced biologic responses

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Tyk2 plays a restricted role in IFN alpha signaling, although it is required for IL-12-mediated T cell function

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Activation of the Jak3 pathway is associated with granulocytic differentiation of myeloid precursor cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Mechanisms associated with IL-6-induced up-regulation of Jak3 and its role in monocytic differentiation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID)

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Interaction of IL-2R beta and gamma c chains with Jak1 and Jak3: implications for XSCID and XCID

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Eleven novel JAK3 mutations in patients with severe combined immunodeficiency-including the first patients with mutations in the kinase domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Immune consequences of mutations in the human common gamma-chain gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Dispensability of Jak1 tyrosine kinase for interleukin-2-induced cell growth signaling in a human T cell line

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Tyrosine kinase JAK1 is associated with the granulocyte-colony-stimulating factor receptor and both become tyrosine-phosphorylated after receptor activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Physical association of JAK1 and JAK2 tyrosine kinases with the interleukin 2 receptor beta and gamma chains.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

The protein tyrosine kinase JAK1 complements defects in interferon-alpha/beta and -gamma signal transduction

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Identification of JAK2 as a growth hormone receptor-associated tyrosine kinase

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

JAK2 associates with the erythropoietin receptor and is tyrosine phosphorylated and activated following stimulation with erythropoietin

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Structure of the murine Jak2 protein-tyrosine kinase and its role in interleukin 3 signal transduction

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Complementation by the protein tyrosine kinase JAK2 of a mutant cell line defective in the interferon-gamma signal transduction pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Jak2 tyrosine kinase: a true jak of all trades?

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Other kinases can substitute for Jak2 in signal transduction by interferon-gamma

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

A TEL-JAK2 fusion protein with constitutive kinase activity in human leukemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

The t(8;9)(p22;p24) is a recurrent abnormality in chronic and acute leukemia that fuses PCM1 to JAK2

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

PCM1-JAK2 fusion in myeloproliferative disorders and acute erythroid leukemia with t(8;9) translocation

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

The t(8;9)(p22;p24) translocation in atypical chronic myeloid leukaemia yields a new PCM1-JAK2 fusion gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

A BCR-JAK2 fusion gene as the result of a t(9;22)(p24;q11.2) translocation in a patient with a clinically typical chronic myeloid leukemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Expression of TEL-JAK2 in primary human hematopoietic cells drives erythropoietin-independent erythropoiesis and induces myelofibrosis in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both "atypical" myeloproliferative disorders and myelodysplastic syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

JAK2 V617F mutation is uncommon in non-Hodgkin lymphomas.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

The V617F mutation in Jak2 is not found in childhood acute lymphoblastic leukaemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

The JAK2V617F activating mutation occurs in chronic myelomonocytic leukemia and acute myeloid leukemia, but not in acute lymphoblastic leukemia or chronic lymphocytic leukemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Absence of JAK2 V617F mutation in gastric cancers.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

The JAK2 V617F mutation in de novo acute myelogenous leukemias.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

The V617F JAK2 mutation is uncommon in cancers and in myeloid malignancies other than the classic myeloproliferative disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Altered gene expression in myeloproliferative disorders correlates with activation of signaling by the V617F mutation of Jak2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Expression of Jak2V617F causes a polycythemia vera-like disease with associated myelofibrosis in a murine bone marrow transplant model

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

JAK2V617F expression in murine hematopoietic cells leads to MPD mimicking human PV with secondary myelofibrosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Clinical correlates of JAK2V617F allele burden in essential thrombocythemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Progenitors homozygous for the V617F mutation occur in most patients with polycythemia vera, but not essential thrombocythemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

The JAK2 V617F mutation occurs in hematopoietic stem cells in polycythemia vera and predisposes toward erythroid differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Evidence that the JAK2 G1849T (V617F) mutation occurs in a lymphomyeloid progenitor in polycythemia vera and idiopathic myelofibrosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Involvement of various hematopoietic-cell lineages by the JAK2V617F mutation in polycythemia vera.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Extending Jak2V617F and MplW515 mutation analysis to single hematopoietic colonies and B and T lymphocytes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Acquisition of the V617F mutation of JAK2 is a late genetic event in a subset of patients with myeloproliferative disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Polycythemia vera is not initiated by JAK2V617F mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Leukemic blasts in transformed JAK2-V617F-positive myeloproliferative disorders are frequently negative for the JAK2-V617F mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Mutation of JAK2 in the myeloproliferative disorders: timing, clonality studies, cytogenetic associations, and role in leukemic transformation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Prevalence and clinicopathologic correlates of JAK2 exon 12 mutations in JAK2V617F-negative polycythemia vera.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Novel activating JAK2 mutation in a patient with Down syndrome and B-cell precursor acute lymphoblastic leukemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

JAK2T875N is a novel activating mutation that results in myeloproliferative disease with features of megakaryoblastic leukemia in a murine bone marrow transplantation model

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Prevalance of JAK2 V617F and exon 12 mutations in polycythaemia vera.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

The frequency of JAK2 exon 12 mutations in idiopathic erythrocytosis patients with low serum erythropoietin levels

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Proposals and rationale for revision of the World Health Organization diagnostic criteria for polycythemia vera, essential thrombocythemia, and primary myelofibrosis: recommendations from an ad hoc international expert panel

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Cloning and expression of murine thrombopoietin cDNA and stimulation of platelet production in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Lineage-specific hematopoietic growth factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Studies of c-Mpl function distinguish the replication of hematopoietic stem cells from the expansion of differentiating clones

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

The human homolog of the myeloproliferative virus maps to chromosome band 1p34

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Familial essential thrombocythemia associated with a dominant-positive activating mutation of the c-MPL gene, which encodes for the receptor for thrombopoietin

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Mpl Baltimore: a thrombopoietin receptor polymorphism associated with thrombocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Megakaryocyte c-Mpl expression in chronic myeloproliferative disorders and the myelodysplastic syndrome: immunoperoxidase staining patterns and clinical correlates

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Study of the thrombopoitin receptor in essential thrombocythemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Anaemia characterises patients with myelofibrosis harbouring Mpl mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Concurrent MPL515 and JAK2V617F mutations in myelofibrosis: chronology of clonal emergence and changes in mutant allele burden over time.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

JAK2 mutation in essential thrombocythaemia: clinical associations and long-term prognostic relevance

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Evaluation of "increased" hemoglobin in the JAK2 mutations era: a diagnostic algorithm based on genetic tests.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Mutation screening for JAK2V617F: when to order the test and how to interpret the results.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Clinical implications of the JAK2 V617F mutation in essential thrombocythemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

The clinical phenotype of wild-type, heterozygous, and homozygous JAK2V617F in polycythemia vera

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

Prospective identification of high-risk polycythemia vera patients based on JAK2(V617F) allele burden

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

The JAK2(V617F) tyrosine kinase mutation in myelofibrosis with myeloid metaplasia: lineage specificity and clinical correlates

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

JAK2 V617F mutational status predicts progression to large splenomegaly and leukemic transformation in primary myelofibrosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

V617F mutation in JAK2 is associated with poorer survival in idiopathic myelofibrosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

JAK2 inhibitor therapy in myeloproliferative disorders: rationale, preclinical studies and ongoing clinical trials

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

TG101209, a small molecule JAK2-selective kinase inhibitor potently inhibits myeloproliferative disorder-associated JAK2V617F and MPLW515L/K mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

A new JAK2 gene mutation in patients with polycythemia vera and splanchnic vein thrombosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

JAK2 V617F is a rare finding in de novo acute myeloid leukemia, but STAT3 activation is common and remains unexplained

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

JAK2V617F mutational frequency in polycythemia vera: 100%, >90%, less?

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

JAK2 V617F mutation in classic chronic myeloproliferative diseases: a report on a series of 349 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10428190801895360

10.1080/10428190801895360

21 January 2018

Identifiers

DOI

1 reference

26 July 2017

1 reference

PubMed ID

18297515