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Jak 2 mutation

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https://www.readbyqxmd.com/read/27919027/phosphorylation-of-janus-kinase-1-jak1-by-amp-activated-protein-kinase-ampk-links-energy-sensing-to-anti-inflammatory-signaling
#1
Claire Rutherford, Claire Speirs, Jamie J L Williams, Marie-Ann Ewart, Sarah J Mancini, Simon A Hawley, Christian Delles, Benoit Viollet, Ana P Costa-Pereira, George S Baillie, Ian P Salt, Timothy M Palmer
Adenosine 5'-monophosphate-activated protein kinase (AMPK) is a pivotal regulator of metabolism at cellular and organismal levels. AMPK also suppresses inflammation. We found that pharmacological activation of AMPK rapidly inhibited the Janus kinase (JAK)-signal transducer and activator of transcription (STAT) pathway in various cells. In vitro kinase assays revealed that AMPK directly phosphorylated two residues (Ser(515) and Ser(518)) within the Src homology 2 domain of JAK1. Activation of AMPK enhanced the interaction between JAK1 and 14-3-3 proteins in cultured vascular endothelial cells and fibroblasts, an effect that required the presence of Ser(515) and Ser(518) and was abolished in cells lacking AMPK catalytic subunits...
November 8, 2016: Science Signaling
https://www.readbyqxmd.com/read/27752371/myeloproliferative-neoplasm-or-reactive-process-a-rare-case-of-acute-myeloid-leukemia-and-transient-posttreatment-megakaryocytic-hyperplasia-with-jak-2-mutation
#2
Steven Wang, Jie Yan, Guangde Zhou, Rebecca Heintzelman, J Steve Hou
Myeloproliferative neoplasms (MPNs) are hematopoietic malignancies characterized by unchecked proliferation of differentiated myeloid cells. The most common BCR-ABL1-negative MPNs are polycythemia vera, essential thrombocythemia, and primary myelofibrosis. The discovery of JAK2 V617F mutation has improved our understanding of the molecular basis of MPN. The high frequency of JAK2 mutation in MPN makes JAK2 mutation testing an essential diagnostic tool and potential therapeutic target for MPN. Here, we present a rare case of a 34-year-old patient who was initially diagnosed with acute myeloid leukemia (AML) with mutated NPM1...
2016: Case Reports in Hematology
https://www.readbyqxmd.com/read/27729820/ruxolitinib-in-the-treatment-of-polycythemia-vera-patient-selection-and-special-considerations
#3
REVIEW
Sabine Blum, Filipe Martins, Lorenzo Alberio
The discovery of JAK2 V617F mutation in the mid-2000s started to fill the gap between clinical presentation of polycythemia vera (PV), first described by Vaquez at the end of the 19th century, and spontaneous erythroid colony formation, reported by Prchal and Axelrad in the mid-1970s. The knowledge on this mutation brought an important insight to our understanding of PV pathogenesis and led to a revision of the World Health Organization diagnostic criteria in 2008. JAK-STAT is a major signaling pathway implicated in survival and proliferation of hematopoietic precursors...
2016: Journal of Blood Medicine
https://www.readbyqxmd.com/read/27658882/peripheral-and-bone-marrow-cd34-cell-levels-on-chronic-myeloproliferative-disease
#4
M Pamukcuoglu, K Acar, B Celik, N Akyurek, M S Pepeler, G T Sucak
PURPOSE: The aim of the present study was to examine the relationship between peripheral CD34(+) and bone marrow CD34(+) levels and the clinicopathologic characteristics and laboratory parameters of myeloproliferative disease (MPD) patients. PATIENTS AND METHODS: A total of 103 MPD patients were enrolled in this study. We examined the relationship between bone marrow CD34(+) and peripheral CD34(+) levels and the patients' clinicopathologic and laboratory parameters...
September 22, 2016: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/27637012/prognostic-significance-of-p2ry8-crlf2-and-crlf2-overexpression-may-vary-across-risk-subgroups-of-childhood-b-cell-acute-lymphoblastic-leukemia
#5
Hu Dou, Xi Chen, Yi Huang, Yongchun Su, Ling Lu, Jie Yu, Yibing Yin, Liming Bao
The cytokine receptor-like factor 2 (CRLF2) gene plays an important role in early B-cell development. Aberrations in CRLF2 activate the JAK-STAT signaling pathway that contributes to B-cell acute lymphoblastic leukemia (B-ALL). The prognostic significance of CRLF2 overexpression and P2RY8-CRLF2 fusion in various B-ALL risk subgroups has not been well established. Two hundred seventy-one patients with newly diagnosed childhood B-ALL were enrolled from a Chinese population. The prevalence of CRLF2 overexpression, CRLF2-P2RY8 fusion, CRLF2 F232C mutation, and JAK2 and IL7R mutational status were analyzed, and the prognostic impact of CRLF2 overexpression and P2RY8-CRLF2 on B-ALL was evaluated by assessing their influence on overall survival and event-free survival...
September 16, 2016: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/27582015/circulating-cd34-cell-count-differentiates-primary-myelofibrosis-from-other-philadelphia-negative-myeloproliferative-neoplasms-a-pragmatic-study
#6
C Orvain, D Luque Paz, I Dobo, L Cottin, G Le Calvez, A Chauveau, M Mercier, J Farhi, F Boyer, J C Ianotto, B Guibourg, M C Rousselet, M Zandecki, N Ifrah, M Hunault-Berger, V Ugo, F Genevieve
A high number of circulating CD34+ cells has been advocated to distinguish primary myelofibrosis from other Philadelphia-negative myeloproliferative neoplasms. We re-evaluated the diagnostic interest of measuring circulating CD34+ cells in 26 healthy volunteers and 256 consecutive patients at diagnosis for whom a myeloproliferative neoplasm was suspected. The ROC curve analysis showed that a number of CD34+ <10/μl excludes the diagnosis of primary myelofibrosis with a sensitivity of 97 % and a specificity of 90 % (area under the curve: 0...
October 2016: Annals of Hematology
https://www.readbyqxmd.com/read/27570091/clinical-and-histological-characteristics-of-livedo-racemosa-in-essential-thrombocythemia-a-report-of-two-cases-and-review-of-the-published-works
#7
Sae Inoue, Naoko Okiyama, Mari Okune, Nagisa Shiraki, Reiko Kessoku, Manabu Fujimoto
Essential thrombocythemia (ET) is a rare clonal myeloproliferative disorder with a prevalence rate of approximately 1-3 cases per 100 000 individuals per year. ET is characterized by a persistent increase in the platelet count with hyperplasia of bone marrow megakaryocytes. It is difficult to make a diagnosis of ET, because most thrombocythemia are reactive to certain disease conditions including iron deficiency anemia, infection, collagen diseases and malignant tumors. Mutation in the Janus kinase (JAK)2 gene is present in approximately 50-70% of ET patients, and somatic mutations in the calreticulin (CALR) gene were recently discovered in approximately 20-25% of sporadic patients with ET or primary myelofibrosis...
August 29, 2016: Journal of Dermatology
https://www.readbyqxmd.com/read/27554814/efficacy-of-the-janus-kinase-1-2-inhibitor-ruxolitinib-in-the-treatment-of-vasculopathy-associated-with-tmem173-activating-mutations-in-3-children
#8
Marie-Louise Frémond, Mathieu Paul Rodero, Nadia Jeremiah, Alexandre Belot, Eric Jeziorski, Darragh Duffy, Didier Bessis, Guilhem Cros, Gillian I Rice, Bruno Charbit, Anne Hulin, Nihel Khoudour, Consuelo Modesto Caballero, Christine Bodemer, Monique Fabre, Laureline Berteloot, Muriel Le Bourgeois, Philippe Reix, Thierry Walzer, Despina Moshous, Stéphane Blanche, Alain Fischer, Brigitte Bader-Meunier, Fréderic Rieux-Laucat, Yanick Joseph Crow, Bénédicte Neven
No abstract text is available yet for this article.
December 2016: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/27531097/refractory-arterial-insufficiency-associated-with-jak-2-positive-essential-thrombocythaemia
#9
Yogeesan Sivakumaran, Anthony Freeman
Essential thrombocythaemia (ET) is one of severe rare clonal haematologic stem cell disorders that encompass myeloproliferative neoplasms. ET has a well-described association with peripheral arterial thrombosis, which presents a challenging clinical presentation. Further understanding into the underlying pathophysiology of thrombosis in ET has been made following the identification of the Janus Kinase 2 (JAK2) mutation, which is thought to confer a prothrombotic phenotype. Here we present a case of refractory arterial insufficiency associated with JAK2 positive ET...
August 12, 2016: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/27473820/janus-kinase-jak-inhibitors-in-the-treatment-of-inflammatory-and-neoplastic-diseases
#10
REVIEW
Robert Roskoski
The Janus kinase (JAK) family of non-receptor protein-tyrosine kinases consists of JAK1, JAK2, JAK3, and TYK2 (tyrosine kinase-2). Each of these proteins contains a JAK homology pseudokinase (JH2) domain that regulates the adjacent protein kinase domain (JH1). JAK1/2 and TYK2 are ubiquitously expressed whereas JAK3 is found predominantly in hematopoietic cells. The Janus kinase family is regulated by numerous cytokines including interleukins, interferons, and hormones such as erythropoietin, thrombopoietin, and growth hormone...
September 2016: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
https://www.readbyqxmd.com/read/27468853/correlation-between-jak2-allele-burden-and-pulmonary-arterial-hypertension-and-hematological-parameters-in-philadelphia-negative-jak2-positive-myeloproliferative-neoplasms-an-egyptian-experience
#11
Mervat M Mattar, Mohammed Abdel Kader Morad, Noha M El Husseiny, Noha H Ali, Doaa M El Demerdash
Myeloproliferative neoplasms are characterized by a common stem cell-derived clonal proliferation, but are phenotypically diverse. JAK2 is mutated (V617F) in more than 90 % of patients with polycythemia vera (PV) and approximately 60 % of patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF). Pulmonary arterial hypertension (PAH) is a major complication of several hematological disorders. Chronic myeloproliferative disorders associated with PAH have been included in group five for which the etiology is unclear and/or multifactorial...
October 2016: Annals of Hematology
https://www.readbyqxmd.com/read/27402956/different-expression-patterns-of-lgals1-and-lgals3-in-polycythemia-vera-essential-thrombocythemia-and-primary-myelofibrosis
#12
L G Moura, R Tognon, N S Nunes, L Cataldi Rodrigues, A F Ferreira, S Kashima, D T Covas, M Santana, E X Souto, L Perobelli, B P Simões, M Dias-Baruffi, F A Castro
Despite all the knowledge, the cellular and molecular mechanisms involved in myeloproliferative neoplasm (MPN) pathophysiology remain unclear. Authors have shown galectin-1 (Gal-1) and 3 playing roles in tumour angiogenesis and fibrosis, which were correlated with poor prognosis in patients with MPN. In the present study LGALS1 and LGALS3 were differently expressed between polycythemia vera, essential thrombocythemia (ET) and primary myelofibrosis (PMF) diseases. Increased LGALS3 expression was associated with a negative JAK2 V617F status mutation in leucocytes from PMF but not in patients with ET without this mutation...
October 2016: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/27379765/severe-early-onset-combined-immunodeficiency-due-to-heterozygous-gain-of-function-mutations-in-stat1
#13
Safa Baris, Fayhan Alroqi, Ayca Kiykim, Elif Karakoc-Aydiner, Ismail Ogulur, Ahmet Ozen, Louis-Marie Charbonnier, Mustafa Bakır, Kaan Boztug, Talal A Chatila, Isil B Barlan
PURPOSE: Loss and gain-of-function (GOF) mutations in human signal transducer and activator of transcription 1 (STAT1) lead to distinct phenotypes. Although recurrent infections are common to both types of STAT1 mutations, GOF mutations are distinguished by chronic mucocutaneous candidiasis and autoimmunity. However, the clinical spectra of STAT1 GOF mutations continue to expand. We here describe two patients with STAT1 GOF mutations presenting early in life with combined immunodeficiency (CID)...
October 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27258562/pstat3-pstat5-signaling-patterns-in-molecularly-defined-subsets-of-myeloproliferative-neoplasms
#14
Hany Sakr, Kelli Clark Schneider, Gurunathan Murugesan, Juraj Bodo, Eric D Hsi, James R Cook
BCR/ABL1-negative myeloproliferative neoplasms (MPNs) are characterized by recurrent mutations in JAK2, CALR, and MPL, each of which has been reported to alter JAK/STAT signaling pathways. This report characterizes JAK/STAT signaling patterns in molecularly defined subsets of MPN utilizing immunohistochemistry for pSTAT3 and pSTAT5. Analysis of 30 BCR/ABL1-negative, nonpolycythemia vera MPN identified 15 (50%) with JAK2 V617F, 2 with MPL mutations (7%), and 8 with CALR mutations (27%). All mutations were mutually exclusive, except for 1 case with concurrent JAK2 V617F and CALR mutations...
June 2, 2016: Applied Immunohistochemistry & Molecular Morphology: AIMM
https://www.readbyqxmd.com/read/27249739/individualizing-care-for-patients-with-myeloproliferative-neoplasms-integrating-genetics-evolving-therapies-and-patient-specific-disease-burden
#15
Ruben A Mesa, Francesco Passamonti
Individualized medicine is important for patients with myeloproliferative neoplasms (MPNs), including essential thrombocythemia, polycythemia vera, and myelofibrosis, which are heterogeneous in terms of genetic mutation profile, prognosis, disease burden, and symptoms. Status of MPN driver mutations in JAK2, CALR, and MPL (or lack of one of these mutations) and other myeloid mutations (ASXL1, SRSF2, CBL, and IDH1/2, among others) affects diagnosis and prognosis. Management begins with estimating the prognosis, disease burden including MPN symptoms, and prevention of vascular events...
2016: American Society of Clinical Oncology Educational Book
https://www.readbyqxmd.com/read/27187785/safety-considerations-when-treating-myelofibrosis
#16
J M O'Sullivan, D P McLornan, C N Harrison
INTRODUCTION: Myelofibrosis (MF) is a clonal disorder leading to marrow fibrosis, cytopenias and extramedullary haematopoiesis. AREAS COVERED: Generic management of MF with a specific focus on the efficacy and safety profile of the Janus Kinase (JAK)1/JAK 2 kinase inhibitor, ruxolitinib (Novartis Pharmaceuticals, Basel, Switzerland), will be discussed. This agent has manageable haematological side effects and possesses both beneficial and potentially detrimental immunosuppressive effects...
September 2016: Expert Opinion on Drug Safety
https://www.readbyqxmd.com/read/27186296/the-role-of-jak-stat3-signaling-pathway-on-apoptosis-of-lung-adenocarcinoma-cell-line-pc-9-induced-by-icotinib
#17
Yuping Zhang, Xia Meng, Hongyang Shi, Wei Li, Zongjuan Ming, Yujie Zhong, Wenjing Deng, Qiuhong Zhang, Na Fan, Zequn Niu, Guo'an Chen, Shuanying Yang
OBJECTIVE: The aim of this study is to estimate the role of JAK/STAT3 signaling pathway on apoptosis of lung adenocarcinoma induced by icotinib. METHODS: EGFR mutation was detected in lung adenocarcinoma cell line PC-9 by ARMS assay; The inhibitory rates of cell proliferation of PC-9 cells which were exposed to different concentrations of icotinib (0~100 μMol/L) for different time (24~72 h) respectively were evaluated by MTT assay; Apoptosis of PC-9 cells exposed to different concentrations of icotinib (0, 0...
2016: American Journal of Translational Research
https://www.readbyqxmd.com/read/27177927/calreticulin-mutant-proteins-induce-megakaryocytic-signaling-to-transform-hematopoietic-cells-and-undergo-accelerated-degradation-and-golgi-mediated-secretion
#18
Lijuan Han, Claudia Schubert, Johanna Köhler, Mirle Schemionek, Susanne Isfort, Tim H Brümmendorf, Steffen Koschmieder, Nicolas Chatain
BACKGROUND: Somatic calreticulin (CALR), Janus kinase 2 (JAK2), and thrombopoietin receptor (MPL) mutations essentially show mutual exclusion in myeloproliferative neoplasms (MPN), suggesting that they activate common oncogenic pathways. Recent data have shown that MPL function is essential for CALR mutant-driven MPN. However, the exact role and the mechanisms of action of CALR mutants have not been fully elucidated. METHODS: The murine myeloid cell line 32D and human HL60 cells overexpressing the most frequent CALR type 1 and type 2 frameshift mutants were generated to analyze the first steps of cellular transformation, in the presence and absence of MPL expression...
2016: Journal of Hematology & Oncology
https://www.readbyqxmd.com/read/27144517/th17-cytokine-differentiation-and-loss-of-plasticity-after-socs1-inactivation-in-a-cutaneous-t-cell-lymphoma
#19
Stefan Ehrentraut, Björn Schneider, Stefan Nagel, Claudia Pommerenke, Hilmar Quentmeier, Robert Geffers, Maren Feist, Maren Kaufmann, Corinna Meyer, Marshall E Kadin, Hans G Drexler, Roderick A F MacLeod
We propose that deregulated T-helper-cell (Th) signaling underlies evolving Th17 cytokine expression seen during progression of cutaneous T-cell lymphoma (CTCL). Accordingly, we developed a lymphoma progression model comprising cell lines established at indolent (MAC-1) and aggressive (MAC-2A) CTCL stages. We discovered activating JAK3 (V722I) mutations present at indolent disease, reinforced in aggressive disease by novel compound heterozygous SOCS1 (G78R/D105N) JAK-binding domain inactivating mutations. Though isogenic, indolent and aggressive-stage cell lines had diverged phenotypically, the latter expressing multiple Th17 related cytokines, the former a narrower profile...
June 7, 2016: Oncotarget
https://www.readbyqxmd.com/read/27144395/betaine-inhibits-hepatitis-b-virus-with-an-advantage-of-decreasing-resistance-to-lamivudine-and-interferon-%C3%AE
#20
Mengmeng Zhang, Xiaoying Wu, Furao Lai, Xiaoyuan Zhang, Hui Wu, Tian Min
Betaine (BET) is a native compound known for its ability to protect the liver from toxicants. However, few studies have examined the effects of BET on the most common cause of liver disease, hepatitis B virus (HBV). In this study, the anti-HBV activity of BET was assessed in vitro and in vivo using enzyme-linked immunosorbent assay, quantitative polymerase chain reaction, and Southern blotting. The resistance of HBV to lamivudine and interferon α is challenging in the clinical treatment of HBV. The effect of BET on resistance was also investigated...
May 25, 2016: Journal of Agricultural and Food Chemistry
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