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Validated All-in-One™ qPCR Primer for JAK2(NM_001322195.2) Search again
Product ID:
HQP155914
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
JTK10
Gene Description:
Janus kinase 2
Target Gene Accession:
NM_001322195.2(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Summary
This gene product is a protein tyrosine kinase involved in a specific subset of cytokine receptor signaling pathways. It has been found to be constituitively associated with the prolactin receptor and is required for responses to gamma interferon. Mice that do not express an active protein for this gene exhibit embryonic lethality associated with the absence of definitive erythropoiesis. [provided by RefSeq].
Gene References into function
- increase in cyclin d-1 promoter activity is predominantly mediated by the Jak2/Stat5 signaling pathway
- Phosphorylation of STAT-3 in response to basic fibroblast growth factor occurs through a mechanism involving platelet-activating factor, JAK-2, and Src in human umbilical vein endothelial cells
- The mechanisms by which HNF-4 is modified after injury involve the activation of Janus kinase 2 (JAK2) signal transduction pathways, but the direct or indirect interaction of JAK2 with HNF-4 remains to be defined.
- requirement in interferon-gamma-mediated inhibition in human chondrocytes
- the JH2 domain contributes to both the uninduced and ligand-induced Jak-receptor complex, where it acts as a cytokine-inducible switch to regulate signal transduction
- Jak2 mediates the increase in c-Myc expression that is induced by Bcr-Abl.
- theoretical model of Janus kinase 2 comprising all seven Janus homology domains
- JAK2 has an important pathologic role in Hodgkin's lymphoma
- JAK2 phosphorylation is suppressed by estrogen, which inhibits growth hormone signaling
- Data suggest there is no defect in the JAK/STAT pathway in the tested melanoma cell lines, and that interferon resistance must be mediated through other components.
- Janus kinase 2 ubiquitination/degradation downstream of the prolactin receptor is regulated by SHP-2 and mediated by SOCS-1
- Jak2 is required for Ang II-induced ERK2 inactivation via induction of MKP-1 gene expression.
- Janus kinase 2 and calcium are required for angiotensin II-dependent activation of steroidogenic acute regulatory protein transcription
- Although the methylation frequency of SOCS-1 is low, the data of Fujitake et al. indicate role of JAK/STAT/SOCS pathway in gastrointestinal tumorigenesis.
- Protein tyrosine phosphatase 1-B levels increased with introduction of wt p53 and may be involved in the dephosphorylation of JAK2
- review of Jak2 tyrosine kinase at the molecular, cellular, and physiological levels [review]
- Jak2 activation is sufficient for GTPCH I upregulation in response to IFN-gamma and its synergy with TNF-alpha.
- CXCL12 signaling is independent of Jak2 and Jak3
- The N-terminal part of the 1st intracellular loop (ICL) is needed to activate Jak2 after SDF-1alpha binding to CXCR4, leading to phosphorylation of only one cytoplasmic Tyr, present at the C terminus of the 2nd (ICL), which triggers STAT3 activation.
- Jak2 is novel pathway in Ang II-dependent activation of StAR expression and steroidogenesis in adrenocortical cells and is requirement for ongoing protein synthesis in Ang II-mediated StAR transcription.
- tel-jak2a fusion oncoprotein based on that seen in a case of chronic myeloid leukemia in zebrafish caused revealed disruption of normal embryonic hematopoiesis, including perturbation of the myeloid and erythroid lineages.
- In human nonfailing myocytes, high glucose allows Angiotensin II to activate JAK2 signaling.
- Similar to SOCS-1, Tkip peptide binds to the autophosphorylation site of JAK2.
- A single acquired mutation of JAK2 was noted in more than half of patients with a myeloproliferative disorder.
- a clonal and recurrent mutation in the JH2 pseudo-kinase domain of the Janus kinase 2 (JAK2) gene in most (> 80%) polycythaemia vera patients
- A somatic mutation JAK2V617F was found in granulocyte DNA from 121 of 164 polycythemia vera patients, from 37 of 115 essential thrombocythemia patients, and from 16 of 46 myeloid metaplasia with myelofibrosis patients.
- A high proportion of patients with myeloproliferative disorders carry a dominant gain-of-function mutation of JAK2.
- current observation strengthens the specific association between JAK2 V617F and classic MPD, but also suggests an infrequent occurrence in other myeloid disorders
- a gain-of-function mutation of JAK may explain the hypersensitivity of polycythemia vera progenitor cells to growth factors and cytokines
- Data show that medroxyprogesterone acetate treatment of mammary tumor cells up-regulated Stat3 protein expression and induced rapid, nongenomic Stat3, Jak1, and Jak2 tyrosine phosphorylation.
- Leptin enhances ADP-induced caalcium increases via JAK2 and tyrosine kinases in a megakaryoblast cell line.
- mutated in polycythemia vera
- Presence of the Jak2V617F mutation was very highly correlated with polycythemia rubra vera 1 overexpression
- JAK1 and JAK2 must work cooperatively and not independently and that their actions are dependent on having normal kinase activity to trigger downstream signals leading to Interleukin-3 independent proliferation
- The rearrangement created by the t(8;9)(p22;p24)used dual-colour FISH on metaphases from patient cells using labelled-BAC clones centred on JAK2.
- JAK2 Val617Phe activating tyrosine kinase mutation is associated with juvenile myelomonocytic leukemia
- mutated in myeloproliferative disorders and hematologic cancers. (review)
- CaM binds to the membrane-proximal EpoR cytoplasmic region and plays an essential role in activation of Jak2-mediated EpoR signaling
- A genetic translocation in atypical chronic myeloid leukemia yields a new PCM1-JAK2 fusion gene.
- crystal structure of the active conformation of the JAK2 PTK domain in complex with a high-affinity, pan-JAK inhibitor that appears to bind via an induced fit mechanism
- V617F mutation is uncommon in cancers and in myeloid malignancies other than the classic myeloproliferative disorders
- This is the first report on the JAK2 gene mutation in AML, and the data indicated that the JAK2 gene mutation may not only contribute to the development of chronic myeloid disorders, but also to some AMLs
- the activation of JAK2 plays a pivotal role in oxidant stress-induced commitment of endothelial cells to apoptosis
- Jak2 has a protective role in maintaining inositol 1,4,5 trisphosphate receptor expression
- JAK1/2 are client proteins of Hsp90 alpha and beta; Hsp90 and CDC37 play a critical role in types I and II interferon pathways
- JAK2V617F has a role in diseases of myeloid lineage cells that express these Type I cytokine receptors but not in lymphoid lineage cells that do not
- A JAK2 (V617F) gene dosage effect on both CD34(+) cell counts and granulocyte activation was clearly demonstrated in polycythemia vera, where abnormal patterns were mainly found in patients carrying more than 50% mutant alleles.
- A mutation in exon 12 of the JAK2 tyrosine kinase gene, leading to a substitution of a valine to a phenylalanine has been described in most polycythaemia patients. (review)
- JAK2V617F mutation may be sufficient for the development of polycythemia vera, but additional genetic events are necessary in essential thrombocythemia and myeloid metaplasia/myelofibrosis.
- Previously described increase of expression and kinase activity of JAK2 in chronic myelocytic leukemia cells does not result from JAK2 activation mutation and that transformation into blast crisis is not associated with the occurrence of this mutation.
- susceptibility of GHR to proteolysis is substantially affected by JAK2, suggesting yet another role for this kinase in determining GH sensitivity.
- single acquired amino acid substistution in the JAK2 gene has recently been described in human myeloproliferative disorders.
- study of 72 families with myeloproliferative disorder does not support existence of germ-line Val617Phe JAK2 mutation as a predisposing factor; homozygous JAK2 mutation confers a proliferative advantage & is associated with disease progression
- This study suggested that JAK2 mutation is a sole but specific mutation in acute leukemia from MPDs.
- Amongst 42 consecutive patients with leukemic transformation (LT) from myelofibrosis with myeloid metaplasia (MMM) 72% carried the JAK2(V617F) mutation. The mutation was observed at expected frequencies in all subtypes of MMM and acute myeloid leukemia.
- Direct sequencing confirmed the specificity of the assay, which has a detection limit congruent with1% and allowed to identify 9% more JAK2-mutated patients as compared to conventional allele-specific PCR.
- the results suggested that JAK2 V617F is unlikely to play a significant role in the pathobiology of MDS, with or without secondary myelofibrosis.
- Janus kinase2 extrinsic regulators and other proteins in the JAK-STAT pathway should be interrogated to explain frequent STAT activation in AML.
- The JAK2 mutation can be acquired during disease progression of myelodysplastic syndrome JMML.
- The JAK2 V617F mutation was detectable within hematopoietic stem cells and their progeny in polycythemia vera.
- JAK2 V617F mutation was detected in a cohort of patients with 5q- syndrome and a hypercellular marrow
- JAK2V617F mutation is absent in idiopathic erythrocytosis and may represent a useful molecular marker for distinguishing it from polycythemia vera.
- regulation of cyclin D2 and p27(Kip) in combination with redox-dependent processes promotes G(1)/S phase transition downstream of Jak2V617F/STAT5
- allelic frequency of the JAK2-V617F mutation in DNA and expression levels of the mutant and wild-type JAK2 mRNA in granulocytes from 60 patients with essential thrombocythemia and 62 patients with polycythemia vera at the time of diagnosis
- RARS-T has a high frequency of the JAK2 V617F mutation
- Although the JAK2(V617F) mutation plays an important role in the biologic origins of polycythemia vera, it is likely not the sole event leading to this disease.
- the V617F mutation of JAK2 may have a role in polycythemia vera, but not in essential thrombocythemia
- identified a new JAK2T875N mutation in the AMKL cell line CHRF-288-11
- Atiprimod decreased phosphorylation of Stat3 and Stat5, and protein levels of Jak2, whereas gene expression of Jak2 was not affected in myeloid leukemia cells.
- This assay identifies JAK2(V617F) in a clinical laboratory setting. The detection of JAK2(V617F) in archived specimens is a new tool for studying the prognostic significance of the mutation of this gene.
- Data demonstrate that nuclear Jak2 regulates the amount of active NF1-C2 through tyrosine phosphorylation and proteasomal degradation.
- evaluated the clonality status and V617FJAK2 mutation in 20 children affected by ET and compared them with 47 consecutive adult ET cases
- MPL mutations may occur concurrently with the JAK2V617F mutation, suggesting that these alleles may have functional complementation in myeloproliferative disease
- mutant JAK2 contributes to myelofibrosis with myeloid metaplasia pathogenesis by constitutively phosphorylating STAT3 and diminishing myeloid cell apoptosis
- patients with and without the JAK2 mutation have different patterns of cytogenetic abnormality, with virtually all patients carrying the 20q deletion or trisomy 9 being V617F(+).
- The expression of matrix-modeling genes in chronic idiopathic myelofibrosis (cIMF) is not influenced by the JAK2 mutation status but is predominantly related to the stage of disease.
- JAK2Val617Phe-negative case of essential thrombocythemia harboring the acquired translocation t(X;5)(q13;q33).
- The JAK2V617F mutation can occur exclusively in the erythroid lineage and be absent in granulocytes and progenitor cells in classic myeloproliferative disorders
- presence of JAK2 V617F in all myeloid cells in essential thrombocythemia
- Review. Current hypotheses on how JAK2 V617F contributes to three myeloproliferative diseases are discussed.
- Leptin stimulates proliferation and inhibits apoptosis in colon cancer cells. This effect involves JAK2, PI3 kinase and JNK and activation of the oncogenic transcription factors signal transducer and activator of transcription
- frequency of the JAK2V617F mutation in platelets from essential thrombocythemia patients: correlation with clinical features and analysis of STAT5 phosphorylation status
- Found in a subset of patients with JAK2-V617F mutation and essential thrombocythemia.
- A 52-year-old man developed essential thrombocythemia with JAK2 V617F mutation after orthotopic liver transplantation.
- Fli-1 is rather constitutively expressed by bone marrow cells in Ph(-) CMPD independent of the underlying JAK2 status
- JAK2 V617F mutation provides a prolierative signal to the dysplastic clone, which manifests itself by megakaryocytopoiesis in myelodysplastic diseases
- The JAK2 V617F mutation in PV and IMF drives a lymphomyeloid stem cell. The phenotype derives from the proliferative advantage this gives to the myeloid series.
- Curcumin treatment inhibited Jak2 mRNA expression in K562 chronic leukaemia cells.
- This is the first reported case of chronic idiopathic myelofibrosis associated with a reciprocal 3;9 translocation with the 3q21 and 9p24 breakpoints.
- Collectively, the results suggest that Jak2 is the sole direct signaling molecule downstream of EpoR required for biological activity.
- observation contributes to the overall clinical specificity of the JAK2 V617F mutation
- JAK2 V617F mutation is common in refractory sideroblastic anemia with thrombocytosis
- it is likely that JAK2V617F mutation may be present in virtually all polycythemia vera patients
- The Ras/Raf-1/MEK1/ERK cascade culminates in nicotine up-regulated expression of the gene encoding STAT-3, whereas recruitment and activation of tyrosine kinase JAK-2 phosphorylates it.
- JAK2 point mutation is associated with myeloproliferative disorders
- study suggests that whereas cell surface expression of type I cytokine receptors requires their cognate JAKs, the mechanisms governing receptor-JAK interactions differ among receptors interacting with the same JAK protein
- These findings suggest that the activation of JAK2, but not STAT3, may play a critical role in leptin-induced AMPK activation in Huh7 cells.
- Splanchnic vein thrombosis caused by myeloproliferative disorders as revealed by JAK2 mutation.
- JAK-STAT pathway may contribute to lymphoid malignancies and hematologic disorders observed in children with Down syndrome
- expression of TEL-JAK2, a constitutively active variant of the JAK2 kinase, in lineage-depleted umbilical cord blood cells results in erythropoietin-independent erythroid differentiation in vitro and induces the rapid development of myelofibrosis
- a mutation of Janus kinase 2 is not responsible for B cell chronic lymphocytic leukemia developing in a patient with Polycythemia Vera
- presence of JAK2 V617F was not identified as a risk factor for thrombosis during follow-up despite a significant association between the mutation and leukocytosis
- molecular detection of JAK2 mutation heralded extramedullary relapse in our case
- V617F mutation is observed also in acute and chronic myeloid malignancies (acute myeloid leukemia and chronic myelomonocytic leukemia
- the JAK2 V617F mutation is absent in chronic lymphocytic leukemia
- The JAK2V61F allele in a polycythemia vera patient was found in hematopoietic stem cells and common myeloid progenitors but not mature lymphoid cells.
- data supports a model wherein the JAK2(V617F) mutation arises as a secondary genetic event; results indicate that an undefined molecular lesion, preceding JAK2(V617F), is responsible for clonal hematopoiesis in PV
- JAK2 V617F mutation status has a role in risk of thrombosis in patients with essential thrombocythemia and polycythemia vera
- JAK2 V617F mutations in CBF leukemias have a role in disease progression
- using choriocarcinoma cells, it is shown that tyrosine phosphatase mediated suppression of IFN-gamma-inducible JAK and STAT-1 and select IFN-gamma-inducible gene expression in trophoblast cells may contribute to fetal maintenance
- The JAK2 mutation may help differentiate nMPD from secondary cytosis.
- Megakaryocytes might be the predominant or even the exclusive lineage that acquires the JAK2(V617F) mutation in essential thrombocythemia.
- the JAK2 V617F mutation may have a role in splanchnic or cerebral venous thrombosis in patients without overt chronic myeloproliferative disorders
- A single point mutation (Val617Phe) was identified in JAK2 in 42 (73.7%) of 57 patients with polycythemia vera, 40 (58.8%) of 68 with essential thrombocythemia, and eight (66.7%) of 12 with myelofibrosis with myeloid metaplasia
- JAK2 exon 12 mutations define a distinctive myeloproliferative syndrome that affects patients who currently receive a diagnosis of polycythemia vera or idiopathic erythrocytosis.
- JAK2V617F-positive patients with idiopathic myelofibrosis show involvement of B-, T-, and NK-cell lineage
- a V617F mutation of JAK2 is very uncommon in patients with thrombosis
- results may suggest that the mutational status of JAK2(V617F) is associated with clinical features that represent disease progression of various chronic myeloproliferative disorder subtypes
- we detected expression of JAK2 V617F in MDS-AML but not in RA or RAEB, suggesting that expression of JAK2 V617F may be one of the genetic factors involved in the progression of MDS to AML with a megakaryoblastic nature
- JAK2-V617F-positive MPD frequently yields JAK2-V617F-negative AML, and transformation of a common JAK2-V617F-negative ancestor represents a possible mechanism.
- In all evaluated MPDs, the pSTAT-5 and pSTAT-3 expression pattern was not influenced by the presence of V617F JAK2 mutation
- study concludes that JAK2 617V>F homozygosity identifies polycythemia vera or essential thrombocythemia(ET) patients with a more symptomatic myeloproliferative disorder & is associated with a higher risk of major cardiovascular events in patients with ET
- role of JAK2 V617F mutation in chronic myeloproliferative disorders (Review)
- results suggest for polycythemia vera, erythrocytosis can occur through 2 mechanisms: terminal erythroid amplification triggered by JAK2 617V>F homozygosity & a 2-step process including the upstream amplification of heterozygous cells
- data indicate that JAK2(V617F)-positive essential thrombocythemia can develop thrombosis at any time
- JAK2 V617F may have a role in idiopathic splanchnic vein thrombosis
- data add to the observation that the JAK2 V617F mutation seems to be rather uncommon in myeloid malignancies other than the classic BCR/ABL negative MPD
- Patients carrying the JAK2 (617V>F) mutation have higher risk of developing pregnancy complications and abortion.
- V617F mutations were detected in 17% (7 patients) with catastrophic intra-abdominal thromboses resulting in visceral transplants
- The JAK2 V617F gene mutation was found in patients with polycythaemia vera, essential thrombocythaemia, idiopathic myelofibrosis and in patients with other chronic myeloproliferative disorders.
- Mutations in JAK2 is associated with essential thrombocythemia
- JAK2 mutation is associated with Acute Myelocytic Leukemia and Myeloproliferative Disorders
- JAK2 617V>F positive polycythemia rubra vera maintained by approximately 18 stochastic stem-cell divisions per year
- JAK2V617F mutation is associated with non-splanchnic venous thrombosis in the absence of overt myeloproliferative disorder
- Concurrent JAK2(V617F) mutation and BCR-ABL translocation within committed myeloid progenitors is associated with myelofibrosis
- results are underwhelming for clinical relavence of JAK2V617F alleles burden in polycythemia vera
- JAK2V617F is infrequently associated with arterial stroke in the absence of overt myeloproliferative disorder
- JAK2 V617F neutrophil allele does not have a role in thrombotic risk in essential thrombocytosis
- MPLW515K, but not JAK2V617F, is expressed in in vitro expanded CD4+ T lymphocytes from primary myelofibrosis patients
- Detection of the monomorphic JAK2 V617F mutation using the ACB-PCR assay is easy to perform, rapid, sensitive, and cost-effective.
- Clonal myelopoiesis antedates acquisition of JAK2V617F or MPLW515L/K mutations.
- platelet CD36 increase may be independent from the JAK2 V617F mutation in essential thrombocytopenia
- a correlation exists between the presence of V617F JAK2 mutation and selected hemostatic activation variables
- JAK2-V617F activating mutation may have a role in acute myeloid leukemia
- JAK2 V6I7 F mutation may have a role in thrombosis in myeloproliferative diseases
- 6 of a total 220 cases with polycythemia vera that were JAK2V617F-negative (prevalence=3%); five cases were found to harbor one of the two JAK2 exon 12 mutations (F537-K539delinsL or N542-E543del) in bone marrow and/or peripheral blood cells
- No aberrant size bands were found using cDNA-specific primers to exons 13 & 15 in 15 homozygous V617F-positive myeloproliferative disease cases. Amplification of the mutant JAK2 is not a common factor in the evolution of JAK2 V617F-positive disease.
- Unlike the risk of thrombosis in essential thrombocythemia, the risk in polycythemia vera is not linked to JAK2V617F mutational status.
- JAK2-V617F mutation is associated with Philadelphia-chromosome-positive chronic myeloid leukaemia
- it was postulated that JAK2 V617F mutation may play a role in pancreatic cancer; no such mutations were detected at the JAK2 617 codon for pancreatic cancer or cell samples
- JAK2 V617F mutation is associated with polycythemia vera, essential thrombocythemia and primary myelofibrosis
- that a burden of JAK2(V617F) allele greater than 75% at diagnosis points to polycythemia vera patients with high-risk disease
- The finding of non-germline JAK2V617F mutations in a family with polycythemia vera shows that the mutation is a secondary event to still-unknown primary genetic aberrations causing an inherited tendency for hematopoietic cells to acquire the mutation.
- AML1-ETO and JAK2 may have a role in leukemogenesis, as shown by a myeloproliferative syndrome progressing to acute myeloid leukemia [case report]
- Haplotypes in the JAK2 gene were not associated with the risk of breast cancer.
- JAK2 V617F mutation is frequently present in splenic extramedullary hematopoietic (EMH) cells associated with chronic myeloproliferative disorders, but it is rarely identified in EMH cells associated with other myeloid disorders.
- In lymphocyte-predominant Hodgkin lymphoma SOCS1 function may thus be frequently impaired by mutations, and this may contribute to high JAK2 expression and activation of the JAK2/STAT6 pathway.
- Sodium arsenite dose dependently alters STAT3 and JAK2 activities via Bcl-6 and this may have a role in arsenic-associated carcinogenesis.
- Six out of 18 patients with slightly elevated platelets or hemoglobin were positive for the JAK2 mutation, five of these six had a history of thrombosis
- homogeneous preparations of MSC's in vitro from mutant patients with myelofibrosis are JAK2(617F) negative
- Using JAK2 V617F mutation as a molecular marker, we assessed paired spleen and bone marrow samples of 15 patients with various types of chronic myeloproliferative diseases and myeloproliferative/myelodysplastic diseases
- JAK2 V617F genotype should be considered in any future risk stratification of patients with primary myelofibrosis
- The role of the JAK2 pathway in the regulation of IL8 transcription by Ox-PAPC in vitro and in atherosclerosis in vivo is reported.
- current evidence suggests that JAK2 V617F mutation has significant impact on signal pathways in myeloproliferative disorders [review]
- the JAK2 V617F mutation was detected in 26 samples derived from bone marrow or blood and in 24 of 26 (92.3%) samples derived from matching buccal swabs of patients with Philadelphia-negative chronic myeloproliferative disorders
- Data suggest that JAK2, by association with surface GH receptor (GHR) in the secretory pathway, blunts proteasome activity-dependent discrete GHR cleavage and endoplasmic reticulum-dependent degradation of the precursor receptor.
- ET Patients lacking the JAK2V617F mutation displayed significantly lower expression of the JAK/STAT target genes Pim-1 and suppressor of cytokine signaling-2. In addition, JAK2V617F-negative patients showed lower levels of STAT3 phosphorylation
- peripheral blood CD34+ cells from PV patients with high JAK2V617F burden contain NOD/SCID repopulating cells
- Describe patient with fatal Budd-Chiari syndrome in whom JAK2 and factor V Leiden mutations were found.
- No JAK2 gene mutations or deletions are associated with Philadelphia chromosome-positive leukemia
- JAK2V617F mutation precedes the development of MPD
- The JH2 domain mutation of JAK2 was absent from human clear-cell renal cell carcinoma. Activation of EpoR-JAK-STAT signaling may not be related to JAK2 mutation in RCC.
- more than 10% of the present 115 chronic myeloproliferative diseases patients had JAK2-V617F only in their platelets; detection of JAK2-V617F only in platelets was particularly frequent among essential thrombocythaemia patients
- JAK2 mutational status affects bone marrow renin-angiotensin system expression in polycythemia vera and essential thrombocythemia
- The JAK2 V617F mutation is prevalent in all Philadelphia chromosome-negative MPD and may skew their presenting phenotype, including bone marrow histology, toward a more "erythremic" and less "thrombocythemic" phenotype.
- report a new mutation in the JAK2 gene locus
- dna mutational analysis of a cohort of PV patients revealed JAK2 sequence deletion and frameshift mutations
- The JAK2V617F mutation alters the JAK2 tyrosine kinase to confer constitutive activation and affect downstream signaling pathways; role in myeloproliferative diseases (Review)
- The JAK2V617F mutation was noted in a certain population of ET patients and correlated with leukocytosis, high hemoglobin level, and thrombosis
- there was significant disease spectrum overlap between JAK2 V617F and JAK2 exon 12 mutations.
- In a cohort study, prevalence of the JAK2 V617F mutation was low among unselected patients with a first episode of unprovoked venous thromboembolism.(
- the JAK2 V617F allele may have a role in essential thrombocythemia, polycythemia vera and primary myelofibrosis
- concurrent JAK2V617F and BCR-ABL translocation appeared to affect independent subclones
- JAK2 attracts multiple gene partners and may contribute to disease progression in patients with MDS and B-cell malignancies, while the JAK2 copy number appears to be important in pathogenesis of Ph-negative MPDs.
- Jak2 ordinarily dampens and limits the duration of the PGHS-2 induction by IL-1beta.
- A novel signaling pathway, in which NADPH oxidase activation results in inhibition of protein tyrosine phosphatases, leading to enhanced and sustained phosphorylation of kinases (JAK2), and suppression of apoptosis is suggested in pancreatic neoplasms.
- genetic predisposition to acquisition of different JAK2 mutations is inherited in families with myeloproliferative disorders
- The JAK2 V617F mutation, which occurs in 0.20% of normal primigravidas between the ages of 21 and 36 years who live in the Mediterranean region of southern Europe, is associated with an increased risk of pregnancy loss.
- intracellular mediators and pathways activated by leptin downstream of JAK2 were found to include phosphatidylinositol-3 kinase, phospholipase Cgamma2 and protein kinase C, as well as the p38 MAP kinase-phospholipase A(2) axis.
- IL-27R possesses hematopoietic cell-transforming properties
- JAK2(V617F)was identified in the bone marrow of 3 out of 237 B-cell lymphoma patients. It may arise in the bone marrow before clinical manifestation of any myeloid disorders & might increase the risk of future MPD development.
- *n the mediastinal B-cell lymphoma cell line, harbouring trisomy 9, JAK2 transcription is elevated and the product is highly phosphorylated.
- The JAK2(Janus kinase 2) V617K mutation was found in 6 of 12 patients with refractory anemia with ringed sideroblasts associated with marked thrombocytosis (RARS-T)with platelet counts 500 x 10(9)/l
- reviewsthe early history of Jak2 as it pertains to its role in classical cellular signaling, how specific structural determinants within Jak2 dictate its overall function, and the role of Jak2 in neoplastic growth [review]
- Simultaneous occurrence of the JAK2V617F mutation and BCR-ABL gene rearrangement is associated with chronic myeloproliferative disorders
- Eight mutation-positive cases were identified, including one with a previously undescribed mutant JAK2 exon 12 allele and another with biallelic involvement.
- JAK2 exon 12 mutations were detected in 4 out of 20 polycythemia vera and idiopathic erythrocytosis V617F-negative patients and were only present in the myeloid lineage
- Increased incidence of JAK2 V617F mutation is associated with refractory anemia with ringed sideroblasts and marked thrombocytosis
- HLA-G5 downregulates EPOR constitutive signaling of JAK2 V617F-expressing erythroleukemia cells, inhibiting cell proliferation via G1 cell cycle arrest.
- JAK2 Mutations are associated with polycythemia vera
- SN acts directly on neurons after hypoxia and ischemic insult to further their survival by activating the Jak2/Stat3 pathway.
- Parameters that are significantly associated with abnormal cytogenetics in polycythemia vera patients include age greater than or equal to 60 years, but not JAK2 Val617Phe allele burden.
- GM-CSF regulates MCP-1 expression via Janus kinase-2-Stat5 pathway and by a novel regulatory mechanism of statins to reduce inflammatory reactions by down-regulating the expression of monocytic MCP-1
- Higher haemoglobin and lower platelet levels in the JAK2 V617F mutation positive essential thrombocythemia patients.
- JAK2 mutation was detected in 11 patients among the 24 patients with Essential thrombocythemia and was not found in 36 patients with reactive thrombocytosis.
- EpoR juxtamembrane regulatory motif essential for Epo-dependent JAK2 activation is not essential for the activation of JAK2V617F.
- These data are consistent with the hypothesis that the ratio of mutant to wild-type JAK2 is critical for the phenotypic manifestation. A similar correlation was also found in patients with myeloproliferative disorders.
- These data suggest that KIT(D816V+) systemic mastocytosis (SM) can co-exist with JAK2(V617F+) chronic idiopathic myelofibrosis (CIMF) and in some of these SM-CIMF cases, the two mutations are present in the neoplastic cells of both disease components.
- JAK2-V617F mutation may have a role in preventing progression of RARS-T (refractory anemia with ringed sideroblasts and marked thrombocytosis)
- The JAK2(V617F) mutant allele burden contributes to determining the clinical phenotype in patients with essential thrombocythemia
- V617F mutation does not affect hematopoietic progenitor cells in myeloproliferative disorders.
- Clonal heterogeneity in polycythemia vera patients with JAK2 exon12 and JAK2-V617F mutations
- NPM1-mutated acute myeloid leukaemia occurring in JAK2-V617F+ primary myelofibrosis.
- expression of the Myc and Pim proto-oncogenes by Jak2V617F was found to be FERM domain dependent.
- among the 101 myelodysplastic syndromes patients in our cohort, we detected JAK2 mutations
- observations suggest that the clinical phenotype of the JAK2 exon 12 mutation is partly different from that of the JAK2 V617F mutation
- Although JAK2 is a critical element in leptin and insulin signaling and has a role in cellular cholesterol transport, we failed to establish associations of common SNPs with relevant phenotypes in this human study.
- WP1066 is active both in vitro and ex vivo and should be further developed for the treatment of neoplasms expressing the JAK2 V617F mutation.
- diagnostic and prognostic value of JAK2 and MPL515 mutations in 241 SVT patients
- none of 60 patients with venous or arterial thrombosis was positive for JAK2V61F mutation
- Janus kinase 2 and Stat5a co-overexpression cooperatively reverses epithelial-mesenchymal transition and promotes differentiation in human breast cancer cells
- Low frequency of JAK2 exon 12 mutations is associated with classic and atypical chronic myeloproliferative disorders
- 4 of 11 patients with 'isolated erythrocythemia' were diagnosed as WHO-PV because of the presence of splenomegaly and 2 of them had JAK2 617V > F, suggesting the frequency of JAK2 617V > F mutation in PV depends on the diagnostic definition.
- IL-13 has anti-angiogenic activity as a result of activation of JAK2 and subsequent activation of STAT6.
- review of roles of Jak2, Jak3, and MPL mutations in signal transduction and etiology of myeloid malignancies
- mutation R541-E543delinsK could be demonstrated in exon 12 in JAK2V617F-negative polycythemia ve
- were not able to detect JAK2 V617F mutations in the overwhelming majority of general hospital patients with arterial or venous thromboses in our cohort
- the effect of leptin on TF expression is mediated, at least in part, by JAK2 and PI3K in neutrophils and mononuclear leukocytes
- Long-term bone marrow cultures(LTBMC) from JAK2617V>F positive essential thrombocythemia patients display a growth pattern more similar to that observed in LTBMC produced by polycythemia vera marrow cells.
- Although JAK2 V617W would predictably be pathogenic in humans, the substitution of the Val codon, GTC, by TTG, the codon for Trp, would require three base pair changes, and thus it is unlikely to occur
- 22% of women with oral contraceptive-related portal/mesenteric venous thrombosis had JAK2 mutation. May be related to development of myeloproliferative disorders.
- JAK2V617F mutation is associated with chronic myeloproliferative diseases
- The JAK2-V617F mutation can be frequently detected in the Taiwanese patients with MPD disorders and therefore should be incorporated into the initial evaluation of patients suspected of MPD.
- The JAK2V617F mutation is found in chronic non-cirrhotic portal vein thrombosis (PVT) patients, irrespective of the presence or absence of myeloproliferative diseases (MPDs).
- Amino acid subfstitution polymorphism of JAK2 is a risk factor for arterial thrombotic events in essential thrombocythemia.
- A finding of JAK2V617F positivity could help diagnose a hidden chronic myeloproliferative disease and might indicate for the addition of cytoprotective therpay to anticoagulant therapy.
- Prevalence of the JAK2V617F mutation in patients with nonsplanchnic venous thrombosis in the absence of MPN is too low to warrant mutation screening as part of the hypercoagulable work-up.
- V617F mutation is associated with increased risk of thrombosis in Chinese patients with essential thrombocythaemia
- analysis of the Janus kinase 2 (JAK2) V617F mutation in Chinese patients with chronic myeloproliferative disorders
- Decreased JAK2 V617F allele burden level is associated with myelofibrosis and myeloid metaplasia with leukemic transformation
- Exercise significantly increased the phosphorylation of JAK2(Janus kinase 2) immediately after exercise
- detection of the JAK2 V617F mutation may define the novel HES subtype
- Janus kinase 2 mutation is associated with polycythemia vera
- JAK2 V617F mutation that has been associated with 50% of sporadic cases of essential thrombocytopenia was identified as a somatic mutation, an acquired defect, in peripheral blood of the two most severely affected family members
- exon 12 mutations are very useful markers to identify Myeloproliferative Disorder patients
- BCR-JAK2 fusion gene has the same breakpoint in BCR as is found in the BCR/ABL p210. The chimeric gene is the result of a reciprocal translocation between chromosomes 9 and 22, which implies a double break on chromosome 9
- molecular mechanism for homologous recombination regulation mediated by JAK2 and more efficiently by JAK2(V617F)
- JAK2V617F levels decline during hydroxyurea treatment in patients with polycythemia vera and essential thrombocythemia.
- MPLW515L/K mutations do not define a distinct phenotype in ET, although some differences depend on the JAK2V617F mutational status of the counterpart.
- The V617F JAK 2 mutation is not a frequent event in patients with cerebral venous thrombosis without overt chronic myeloproliferative disorder.
- Platelet-derived growth factor-induced cell growth, migration, and IL8 secretion in corneal fibroblast involve the JAK2-STAT3 signaling pathway.
- JAK2 mutations in myeloproliferative neoplasms [review]
- different myeloid lineages usually show similar frequencies of the JAK2V617F allele. The occasional detection of JAK2V617F in benign lymphocytes points to involvement of the lympho-myeloid stem cell.
- Atypical chronic myeloid leukemia should be considered as a JAK2 negative chronic myeloid neoplasm.
- JAK2 and MPL mutations in polycythemia vera, essential thrombocytosis, and primary myelofibrosis [review]
- Because JAK2 V617F is specific for myeloid neoplasms, and because it can be detected in peripheral blood granulocytes, it offers a powerful tool that facilitates the diagnosis of these BCR-ABL negative myeloproLiferative disorders.
- JAK2 V617F mutation was detected in healthy subjects by cloning and sequencing. JAK2 617 hybridization probe is an adequate test in differential diagnosis for both erythrocytosis and thrombocytosis.
- cytogenetic change of t(8;9)(p22;p24) may induce HLA-DR immunophenotypic switch and a coordination of the two evolutional changes may play a role in leukemic cell progression
- study shows that TNFR1 associates with Jak2, c-Src, and PI3K in various cell types to engage signaling pathways, activate transcription factors, and modulate gene expression
- the HSC compartment of PV and PMF patients contains JAK2V617F-positive long-term, multipotent, and self-renewing cells
- pre-thrombotic tendencies in myeloproliferative disorders are complex and JAK2 V617F mutation might have a role in vivo blood coagulation by altering not only the number, but function(s) of all three myeloid cells
- Homoharringtonine affects the JAK2-STAT5 signal pathway through alteration of protein tyrosine kinase phosphorylation in acute myeloid leukemia cells
- The JAK2 V617F mutation per se but not the mutational load in patients with ET is associated with a PV-like phenotype and a higher prevalence of previous arterial thrombosis
- systematic screening for the JAK2 V617F mutation in patients with large vessel arterial thrombosis is not necessary, even if it occurs in young patients who exhibit relatively high peripheral platelet counts
- effect on JAK2 mutation is probably mediated through a distinct prothrombotic phenotype, with a predilection for both venous and arterial events
- These results identify a novel signaling pathway involving Jak2-dependent Gab2 phosphorylation leading to Erk1/2 activation and cell proliferation in response to granulocyte colony-stimulating factor.
- Mutations in JAK-2 were not found, indicating that undiagnosed polycythemia vera is not a common cause for successful repeated blood donation by superdonors
- The frequency of the JAK2V617F mutation was similar in early polycythemia vera and polycythemia vera but was significantly lower in essential thrombocythemia.
- In PV, ET and PMF, classical MPD with unknown etiology, JAK2 mutation and its constant activation were discovered.
- Myeloproliferative disorder angiogenic monocyte colonies that were detected were uniformly JAK2V617F positive and produced cells that expressed phenotypic markers characteristic of both monocytes and endothelial cells.
- JAK2 V617F mutation was detected in 124/158 chronic myeloproliferative disease patients; 90.2, 72.1, 63.2 & 50% of polycythemia vera, essential thrombocythemia, idiopathic myelofibrosis & unclassified (U)-MPD cases, respectively, showed the mutation
- extent of JAK2(V617F) CD34(+) cell clonal dominance is associated with disease phenotype within the myeloproliferative disorders.
- Effect of hydroxyurea on the JAK2V617F allelic ratio of patients with polycythemia vera and essential thrombocythemia.
- role of mutant alleles of JAK2 & MPL in the pathogenesis of polycythemia vera, essential thrombocythemia & primary myelofibrosis [review]
- In a series of human AMKL samples from both Down syndrome and non-Down syndrome patients, mutations were identified within KIT, FLT3, JAK2, JAK3, and MPL genes, with a higher frequency in DS than in non-DS patients.
- endogenous BFU-E formation was also seen in nine JAK2V617F mutation negative patients displaying also a normal JAK2 exon 12 allele
- JAK2 V617F mutation is not a cause of central retinal vein occlusion
- the occurrence of acquired APC resistance in ET and PV patients, probably because of a reduction in free PS levels. The APC-resistant phenotype is influenced by the JAK2(V617F) mutational load.
- Cytokine independence correlated with low expression and cytokine dependence with high expression of the JAK/STAT pathway inhibitor suppressor of cytokine signaling 2 suggesting a mechanism for cytokine independence of myeloproliferative disorder cells
- Glycine-extended gastrin induced signalling involves a JAK2/PI3-kinase/Akt/NF-kappaB sequence leading to COX-2 transcription.
- JAK2 promotes cell survival by signaling through the Pim/BAD/BCL-xL pathway
- the time course of the JAK2-V617F or JAK2 exon 12 allele burden in DNA from purified granulocytes from 48 patients with myeloproliferative disorders
- The JAK2 V617F mutation was not found in 77 Mexican patients with primary thrombophilic conditions.
- JAK2 V617F mutation is not rare in childhood sporadic essential thrombocythemia.
- STAT3 constitutive activation, alone and in concurrence with EGFR expression, plays an important role in high-grade/malignant gliomas and targeting STAT3/JAK2 sensitizes these tumors to anti-EGFR and alkylating agents
- The peptidyl-prolyl isomerase (PPI) cyclophilin A (CypA), which is implicated in the regulation of protein conformation, is necessary for the prolactin (PRL)-induced activation of Jak2 and the progression of human breast cancer.
- JAK2(V617F) should be considered as a hyperactive kinase rather than a constitutively active kinase.
- results establish a role for JunB in normal erythropoiesis and indicate that JunB may play a major role in the development of JAK2 V617F myeloproliferative disorders.
- a complex molecular pathogenesis for Down syndrome and acute lymphoblastic leukemia leukemogenesis, with trisomy 21 as an initiating factor and with chromosome aneuploidy, gene deletions, and activating JAK2 mutations as complementary genetic events
- JAK2, EGFR and PI3KCA hot spot mutations are uncommon in endocrine tumors
- JAK2 V617F mutation and thrombosis [review]
- The Telomere length TL of JAK2V617F-negative myeloproliferative neoplasms patients was similar to JAK2V617F-positive counterparts, suggesting that the yet-to-be-discovered causative mutation(s) impact the mutated stem cell similarly to JAK2V617F
- neither the JAK2V617F mutational status nor the V617F allele burden seem to have relevance for disease phenotype or prognosis in this setting of patients
- The Janus kinase 2(V617F) tyrosine kinase mutation identifies clinically latent myeloproliferative disorders in patients presenting with hepatic or portal vein thrombosis
- There are associations with JAK2 and STAT3 implicating the role of this signaling pathway in inflammatory bowel disease.
- Cross talk of signals between EGFR and IL-6R through JAK2/STAT3 mediate epithelial-mesenchymal transition in ovarian carcinomas.
- JAK2 exon 12 mutations are not frequent in patients with splanchinic venous thrombosis, unlike the JAK2 V617F mutation.
- The hyperactivation of STAT3 by JAK2 mutations or promoter activation may be a critical step in development of essential thrombocythemia.
- JAK2V617F-positive essential thrombocythemia and multiple myeloma with IGH/CCND1 gene translocation coexist, but originate from separate clones
- A review on JAK2 mutations in patients with polycythemia vera.
- Recurrent refractory arterial thromboembolism associated with the Janus kinase 2 V617F mutation. (Case report)
- JAK2(V617F) is a risk factor for thrombosis in essential thrombocythemia. A link may exist between leukocytosis, JAK2(V617F), & the hemostatic system activation in patients with Bcl-negative myeloproliferative disorders. Review.
- Mutations in JAK2 gene is associated with chronic myeloproliferative disease.
- Sustained Src inhibition results in signal transducer and activator of transcription 3 (STAT3) activation and cancer cell survival via altered Janus-activated kinase-STAT3 binding.
- These results show that cooperativity between the ferroportin monomers is required for hepcidin-mediated Jak2 activation and ferroportin down-regulation.