نتایج جستجو برای: jak2v617f mutation

تعداد نتایج: 291772  

2017
Federico Lussana Alessandra Carobbio Silvia Salmoiraghi Paola Guglielmelli Alessandro Maria Vannucchi Barbara Bottazzi Roberto Leone Alberto Mantovani Tiziano Barbui Alessandro Rambaldi

BACKGROUND The driver mutations JAK2V617F, MPLW515L/K and CALR influence disease phenotype of myeloproliferative neoplasms (MPNs) and might sustain a condition of chronic inflammation. Pentraxin 3 (PTX3) and high-sensitivity C-reactive protein (hs-CRP) are inflammatory biomarkers potentially useful for refining prognostic classification of MPNs. METHODS We evaluated 305 with essential thrombo...

2012
Hajime Akada Saeko Akada Ajeet Gajra Alicia Bair Stephen Graziano Robert E. Hutchison Golam Mohi

The discovery of the JAK2V617F mutation in most patients with Ph-negative myeloproliferative neoplasms has led to the development of JAK2 kinase inhibitors. However, JAK2 inhibitor therapy has shown limited efficacy and dose-limiting hematopoietic toxicities in clinical trials. In the present study, we describe the effects of vorinostat, a small-molecule inhibitor of histone deacetylase, agains...

2010
Alfonso Quintás-Cardama Kris Vaddi Phillip Liu Taghi Manshouri Jun Li Peggy A. Scherle Eian Caulder Xiaoming Wen Yanlong Li Paul Waeltz Mark Rupar Timothy Burn Yvonne Lo Jennifer Kelley Maryanne Covington Stacey Shepard James D. Rodgers Patrick Haley Hagop Kantarjian Jordan S. Fridman Srdan Verstovsek

Constitutive JAK2 activation in hematopoietic cells by the JAK2V617F mutation recapitulates myeloproliferative neoplasm (MPN) phenotypes in mice, establishing JAK2 inhibition as a potential therapeutic strategy. Although most polycythemia vera patients carry the JAK2V617F mutation, half of those with essential thrombocythemia or primary myelofibrosis do not, suggesting alternative mechanisms fo...

2014
Kaiyao Shi Wanke Zhao Yun Chen Wanting Tina Ho Ping Yang Zhizhuang Joe Zhao

BACKGROUND Myeloproliferative neoplasms (MPNs) are blood malignancies manifested in increased production of red blood cells, white blood cells, and/or platelets. A major molecular lesion associated with the diseases is JAK2V617F, an activation mutation form of tyrosine kinase JAK2. Cardiovascular events represent the leading cause of morbidity and mortality associated MPNs, but the underlying m...

Journal: :The Journal of clinical investigation 2018
Baobing Zhao Yang Mei Lan Cao Jingxin Zhang Ronen Sumagin Jing Yang Juehua Gao Matthew J Schipma Yanfeng Wang Chelsea Thorsheim Liang Zhao Timothy Stalker Brady Stein Qiang Jeremy Wen John D Crispino Charles S Abrams Peng Ji

V617F driver mutation of JAK2 is the leading cause of the Philadelphia-chromosome-negative myeloproliferative neoplasms (MPNs). Although thrombosis is a leading cause of mortality and morbidity in MPNs, the mechanisms underlying their pathogenesis are unclear. Here, we identified pleckstrin-2 (Plek2) as a downstream target of the JAK2/STAT5 pathway in erythroid and myeloid cells, and showed tha...

Journal: :Haematologica 2014
Eric Lippert Olivier Mansier Marina Migeon Barbara Denys Asa Nilsson Carolina Rosmond Laurence Lodé Valérie Ugo Axelle Lascaux Beatriz Bellosillo Joaquin Martinez-Lopez Dina Naguib Nathalie Gachard Nicolas Maroc Sylvie Hermouet

Detection of the JAK2V617F mutation is of major help in the diagnosis of myeloproliferative neoplasms (MPNs). Techniques using allele-specific quantitative PCR (AS-qPCR) can reliably and consistently detect down to 0.001% mutated alleles. Moreover, a study of healthy blood donors has shown that the maximum JAK2V617F value in 200 subjects was 0.035%. In practice, a positivity threshold of 1% is ...

Journal: :Blood 2008
Alessandro M Vannucchi Elisabetta Antonioli Paola Guglielmelli Alessandro Pancrazzi Vittoria Guerini Giovanni Barosi Marco Ruggeri Giorgina Specchia Francesco Lo-Coco Federica Delaini Laura Villani Silvia Finotto Emanuele Ammatuna Renato Alterini Valentina Carrai Gloria Capaccioli Simonetta Di Lollo Vincenzo Liso Alessandro Rambaldi Alberto Bosi Tiziano Barbui

Among 994 patients with essential thrombocythemia (ET) who were genotyped for the MPLW515L/K mutation, 30 patients carrying the mutation were identified (3.0%), 8 of whom also displayed the JAK2V671F mutation. MPLW515L/K patients presented lower hemoglobin levels and higher platelet counts than did wild type (wt) MPL; these differences were highly significant compared with MPLwt/JAK2V617F-posit...

Journal: :Journal of B.U.ON. : official journal of the Balkan Union of Oncology 2014
Milica Strnad Biljana Todoric Zivanovic Zeljka Tatomirovic Olivera Tarabar Marija Elez Olga Radic Dragana Stamatovic

PURPOSE The purpose of this study was to investigate the frequency of JAK2V617F gene mutation in patients with polycythemia vera (PV) and to compare the results with the presence of endogenous erythroid colony (EEC) formation. METHODS Peripheral blood and bone marrow samples of 28 patients with PV were analyzed. The diagnosis of PV was established according to the bone marrow criteria of the ...

Journal: :Hematology. American Society of Hematology. Education Program 2006
Ross L Levine Gerlinde Wernig

The identification of JAK2V617F mutations in polycythemia vera (PV), essential thrombocytosis (ET), and myelofibrosis (MF) represents an important advance in our understanding of these myeloproliferative disorders (MPD). Most, if not all, patients with PV and a significant number of patients with ET and MF are JAK2V617F positive, and the mutation likely arises in the hematopoietic stem cell com...

Journal: :Blood 2006
Animesh D Pardanani Ross L Levine Terra Lasho Yana Pikman Ruben A Mesa Martha Wadleigh David P Steensma Michelle A Elliott Alexandra P Wolanskyj William J Hogan Rebecca F McClure Mark R Litzow D Gary Gilliland Ayalew Tefferi

Recently, a gain-of-function MPL mutation, MPLW515L, was described in patients with JAK2V617F-negative myelofibrosis with myeloid metaplasia (MMM). To gain more information on mutational frequency, disease specificity, and clinical correlates, genomic DNA from 1182 patients with myeloproliferative and other myeloid disorders and 64 healthy controls was screened for MPL515 mutations, regardless ...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید