The JAK2 exon 12 mutations: a comprehensive review (Q34192739)

31 July 2017

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title

The JAK2 exon 12 mutations: a comprehensive review (English)

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31 July 2017

Linda M Scott

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31 July 2017

14 June 2011

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American Journal of Hematology

31 July 2017

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31 July 2017

86

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31 July 2017

668-676

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31 July 2017

8

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Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders

31 July 2017

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

21 January 2018

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

21 January 2018

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

21 January 2018

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JAK inhibitor therapy for myelofibrosis: critical assessment of value and limitations

21 January 2018

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Safety and efficacy of INCB018424, a JAK1 and JAK2 inhibitor, in myelofibrosis

21 January 2018

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

21 January 2018

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Lestaurtinib (CEP701) is a JAK2 inhibitor that suppresses JAK2/STAT5 signaling and the proliferation of primary erythroid cells from patients with myeloproliferative disorders

21 January 2018

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JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders

21 January 2018

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Letter: Tinel sign in carpal-tunnel syndrome.

21 January 2018

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

21 January 2018

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Molecular genetics and cytogenetics of myeloproliferative disorders

21 January 2018

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Letter: A new consistent chromosomal abnormality in chronic myelogenous leukaemia identified by quinacrine fluorescence and Giemsa staining

21 January 2018

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Philadelphia chromosomal breakpoints are clustered within a limited region, bcr, on chromosome 22

21 January 2018

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Cytogenetic and molecular genetic evolution of chronic myeloid leukemia.

21 January 2018

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The t(8;22) in chronic myeloid leukemia fuses BCR to FGFR1: transforming activity and specific inhibition of FGFR1 fusion proteins

21 January 2018

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The t(4;22)(q12;q11) in atypical chronic myeloid leukaemia fuses BCR to PDGFRA.

21 January 2018

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

21 January 2018

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Phenotypic variations and new mutations in JAK2 V617F-negative polycythemia vera, erythrocytosis, and idiopathic myelofibrosis

21 January 2018

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

21 January 2018

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Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorders

21 January 2018

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Clonal heterogeneity in polycythemia vera patients with JAK2 exon12 and JAK2-V617F mutations

21 January 2018

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Mutations in exon 12 of JAK2 are mainly found in JAK2 V617F-negative polycythaemia vera patients.

21 January 2018

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Clinical and molecular characterisation of a prospectively collected cohort of children and adolescents with polycythemia vera

21 January 2018

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Loss of the JAK2 intramolecular auto-inhibition mechanism is predicted by structural modelling of a novel exon 12 insertion mutation in a case of idiopathic erythrocytosis

21 January 2018

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Mutation profile of JAK2 transcripts in patients with chronic myeloproliferative neoplasias

21 January 2018

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Isolated erythrocytosis in V617F negative patients with JAK2 exon 12 mutations: report of a new mutation.

21 January 2018

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Detection of JAK2 exon 12 mutations in 15 patients with JAK2V617F negative polycythemia vera

21 January 2018

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A novel JAK2 exon 12 mutation identified in the retrospective analysis of paraffin-embedded tissues of polycythemia vera patients

21 January 2018

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Detection of low allele burden of JAK2 exon 12 mutations using TA-cloning in patients with erythrocytosis.

21 January 2018

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Fast and reliable mutation detection of the complete exon 11-15 JAK2 coding region using non-isotopic RNase cleavage assay (NIRCA).

21 January 2018

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JAK2 and MPL gene mutations in V617F-negative myeloproliferative neoplasms.

21 January 2018

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Clonal diversity in the myeloproliferative neoplasms: independent origins of genetically distinct clones

21 January 2018

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Interlaboratory development and validation of a HRM method applied to the detection of JAK2 exon 12 mutations in polycythemia vera patients

21 January 2018

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Bone marrow morphologic features in polycythemia vera with JAK2 exon 12 mutations

21 January 2018

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High percentage of JAK2 exon 12 mutation in Asian patients with polycythemia vera

21 January 2018

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Mutation in TET2 in myeloid cancers

21 January 2018

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Mutations of ASXL1 gene in myeloproliferative neoplasms.

21 January 2018

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Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders

21 January 2018

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The allele burden of JAK2 mutations remains stable over several years in patients with myeloproliferative disorders.

21 January 2018

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Bone marrow pathology in essential thrombocythemia: interobserver reliability and utility for identifying disease subtypes

21 January 2018

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

21 January 2018

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Molecular and clinical features of the myeloproliferative neoplasm associated with JAK2 exon 12 mutations.

21 January 2018

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A prospective study of 338 patients with polycythemia vera: the impact of JAK2 (V617F) allele burden and leukocytosis on fibrotic or leukemic disease transformation and vascular complications.

21 January 2018

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A population-based study of childhood myelodysplastic syndrome in British Columbia, Canada.

21 January 2018

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Evaluation of diagnostic criteria in polycythemia vera

21 January 2018

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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

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No evidence for the JAK2 (V617F) or JAK2 exon 12 mutations in primary mediastinal large B-cell lymphoma

21 January 2018

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Is refractory anaemia with ring sideroblasts and thrombocytosis (RARS-T) a necessary or useful diagnostic category?

21 January 2018

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Molecular and clinical features of refractory anemia with ringed sideroblasts associated with marked thrombocytosis.

21 January 2018

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

21 January 2018

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Role of the JAK2 mutation in the diagnosis of chronic myeloproliferative disorders in splanchnic vein thrombosis

21 January 2018

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

21 January 2018

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

21 January 2018

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A common JAK2 haplotype confers susceptibility to myeloproliferative neoplasms.

21 January 2018

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The 'GGCC' haplotype of JAK2 confers susceptibility to JAK2 exon 12 mutation-positive polycythemia vera.

21 January 2018

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The JAK2 46/1 haplotype predisposes to MPL-mutated myeloproliferative neoplasms

21 January 2018

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Rapid identification of JAK2 exon 12 mutations using high resolution melting analysis.

21 January 2018

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High resolution melting analysis for JAK2 Exon 14 and Exon 12 mutations: a diagnostic tool for myeloproliferative neoplasms

21 January 2018

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Detection of exon 12 Mutations in the JAK2 gene: enhanced analytical sensitivity using clamped PCR and nucleotide sequencing

21 January 2018

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Two novel protein-tyrosine kinases, each with a second phosphotransferase-related catalytic domain, define a new class of protein kinase

21 January 2018

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Regulation of the Jak2 tyrosine kinase by its pseudokinase domain

21 January 2018

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Prediction of the structure of human Janus kinase 2 (JAK2) comprising the two carboxy-terminal domains reveals a mechanism for autoregulation

21 January 2018

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Prediction of the structure of human Janus kinase 2 (JAK2) comprising JAK homology domains 1 through 7.

21 January 2018

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Structural effects of clinically observed mutations in JAK2 exons 13-15: comparison with V617F and exon 12 mutations

21 January 2018

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SOCS3 tyrosine phosphorylation as a potential bio-marker for myeloproliferative neoplasms associated with mutant JAK2 kinases

21 January 2018

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A JAK2 interdomain linker relays Epo receptor engagement signals to kinase activation

21 January 2018

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Phospho-STAT5 and phospho-Akt expression in chronic myeloproliferative neoplasms.

21 January 2018

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Inhibition of the Bcl-xL deamidation pathway in myeloproliferative disorders

21 January 2018

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Clonal analysis of TET2 and JAK2 mutations suggests that TET2 can be a late event in the progression of myeloproliferative neoplasms

21 January 2018

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

21 January 2018

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

21 January 2018

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Molecular pathogenesis and therapy of polycythemia induced in mice by JAK2 V617F.

21 January 2018

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Ratio of mutant JAK2-V617F to wild-type Jak2 determines the MPD phenotypes in transgenic mice

21 January 2018

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Mutations of JAK2 in acute lymphoblastic leukaemias associated with Down's syndrome

21 January 2018

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JAK mutations in high-risk childhood acute lymphoblastic leukemia

21 January 2018

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

21 January 2018

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Two novel JAK2 exon 12 mutations in JAK2V617F-negative polycythaemia vera patients

21 January 2018

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The impact of JAK2 and MPL mutations on diagnosis and prognosis of splanchnic vein thrombosis: a report on 241 cases

21 January 2018

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

21 January 2018

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JAK2 Mutations are present in all cases of polycythemia vera

21 January 2018

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Genomic diversity correlates with clinical variation in Ph′-negative chronic myeloid leukaemia

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/AJH.22063

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31 July 2017

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PubMed ID

21674578