نتایج جستجو برای: jak2v617f mutation

تعداد نتایج: 291772  

2014
Noa Lavi

With the discovery of the JAK2V617F mutation in patients with Philadelphia chromosome-negative (Ph(-)) myeloproliferative neoplasms (MPNs) in 2005, major advances have been made in the diagnosis of MPNs, in understanding of their pathogenesis involving the JAK/STAT pathway, and finally in the development of novel therapies targeting this pathway. Nevertheless, it remains unknown which mutations...

2016
Shirin Ferdowsi Seyed H. Ghaffari Naser Amirizadeh Azita Azarkeivan Kamran Atarodi Mohammad Faranoush Gholamreza Toogeh Reza Shirkoohi Mohammad Vaezi Mahtab Maghsoodlu Kamran Alimoghaddam Ardeshir Ghavamzadeh Hosein Teimori Naghadeh

BACKGROUND Myeloproliferative neoplasms (MPNs) are clonal malignant diseases that represent a group of conditions including polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF). The aim of this study was to evaluate possible correlations between JAK2V617F allele burden and clinicohematologic characteristics in Iranian patients with MPNs. We also aimed at determ...

2010
Christian Pecquet Judith Staerk Ronan Chaligné Valerie Goss Kimberly A. Lee Xiaowu Zhang John Rush Joanne Van Hees Hélène A. Poirel Jean-Marie Scheiff William Vainchenker Stéphane Giraudier Roberto D. Polakiewicz Stefan N. Constantinescu

Constitutively active JAK2V617F and thrombopoietin receptor (TpoR) W515L/K mutants are major determinants of human myeloproliferative neoplasms (MPNs). We show that a TpoRW515 mutation (W515A), which we detected in 2 myelofibrosis patients, and the 5TpoR active mutant, where the juxtamembrane R/KW515QFP motif is deleted, induce a myeloproliferative phenotype in mouse bone marrow reconstitution ...

2011
Wanming Zhao Rufei Gao Jiyun Lee Shu Xing Wanting T Ho Xueqi Fu Shibo Li Zhizhuang J Zhao

BACKGROUND JAK2V617F is found in the majority of patients with Ph- myeloproliferative neoplasms (MPNs) and has become a valuable marker for diagnosis of MPNs. However, it has also been found in many other hematological diseases, and some studies even detected the presence of JAK2V617F in normal blood samples. This casts doubt on the primary role of JAK2V617F in the pathogenesis of MPNs and its ...

2012
R Gao A H Zhao Y Du W T Ho X Fu Z J Zhao

JAK2V617F, an activation mutant form of tyrosine kinase JAK2, is found in the majority of patients with myeloproliferative neoplasms (MPNs) including polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis. Overwhelming studies have demonstrated the pathogenicity of JAK2V617F. However, some still doubt that JAK2V617F is a primary molecular defect in causing the malignan...

Journal: :Haematologica 2015
Julie Mondet Ji-Hye Park Audrey Menard Christophe Marzac Serge Carillo Emmanuel Pourcelot Francois Girodon Xenia Cabagnols Laurence Lodé Nuria Socoro Martine Chauvet Claude-Eric Bulabois Pascale Cony-Makhoul Selim Corm Jean-Yves Cahn Pascal Mossuz

Calreticulin (CALR) mutations occur in 20%-25% of myeloproliferative neoplasms (MPN). At least 40 CALR mutations have been reported to date, all located in exon 9. The most frequent CALR mutations are a 52-bp deletion (type 1) and a 5-bp insertion (type 2). Expression of type 1 CALR mutation was shown to induce constitutive activation of JAK-STAT signaling pathway in a Ba/F3-cell line with STAT...

2013
Jan Jacques Michiels Goodheart Institute and Foundation Freedom of Science and Education Thrombocythemia Vera Study Group TVSG and European Working Groups on Myeloproliferative Neoplasms: EWG.MPN

ACCORDING TO DAMESHEK, TRUE POLYCYTHEMIA (POLYCYTHEMIA VERA PV) is a chronic myeloproliferative disorder of the total bone marrow without any evidence of invasiveness, in which erythrocytosis, leukocytosis, and thrombocytosis are all simultaneously present. A possible hereditary or transmitted tendency may be present, but actual familial polycythemia is rare. As to the etiology, Dameshek propos...

Journal: :Blood 2010
Christian Pecquet Judith Staerk Ronan Chaligné Valerie Goss Kimberly A Lee Xiaowu Zhang John Rush Joanne Van Hees Hélène A Poirel Jean-Marie Scheiff William Vainchenker Stéphane Giraudier Roberto D Polakiewicz Stefan N Constantinescu

Constitutively active JAK2V617F and thrombopoietin receptor (TpoR) W515L/K mutants are major determinants of human myeloproliferative neoplasms (MPNs). We show that a TpoRW515 mutation (W515A), which we detected in 2 myelofibrosis patients, and the Delta5TpoR active mutant, where the juxtamembrane R/KW(515)QFP motif is deleted, induce a myeloproliferative phenotype in mouse bone marrow reconsti...

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