نتایج جستجو برای: jak2v617f

تعداد نتایج: 776  

2012
Ponlapat Rojnuckarin

Original Article AS-PCR JAK2V617F mutation Myeloproliferative neoplasm PCR-RFLP

Journal: :Blood 2009
Selcuk Sozer Maria Isabel Fiel Thomas Schiano Mingjiang Xu John Mascarenhas Ronald Hoffman

Patients with myeloproliferative disorders are at a high risk of developing thrombotic events. Several investigators have hypothesized that endothelial cell (EC) abnormalities might contribute to this prothrombotic state. Budd-Chiari syndrome (BCS) and portal vein thrombosis have been reported to be associated with JAK2V617F-positive hematopoiesis. We explored whether JAK2V617F was present in E...

2013
Niccolò Bartalucci Lorenzo Tozzi Costanza Bogani Serena Martinelli Giada Rotunno Jean-Luc Villeval Alessandro M Vannucchi

Aberrant JAK2 signalling plays a central role in myeloproliferative neoplasms (MPN). JAK2 inhibitors have proven to be clinically efficacious, however, they are not mutation-specific and competent enough to suppress neoplastic clonal haematopoiesis. We hypothesized that, by simultaneously targeting multiple activated signalling pathways, MPN could be more effectively treated. To this end we inv...

Journal: :Blood 2011
Ying Zheng Hongwei Qin Stuart J Frank Luqin Deng David W Litchfield Ayalew Tefferi Animesh Pardanani Fang-Tsyr Lin Jingzhi Li Bingdong Sha Etty N Benveniste

JAK-STAT signaling is involved in the regulation of cell survival, proliferation, and differentiation. JAK tyrosine kinases can be transiently activated by cytokines or growth factors in normal cells, whereas they become constitutively activated as a result of mutations that affect their function in tumors. Specifically, the JAK2V617F mutation is present in the majority of patients with myelopr...

2011
Juan Li David G. Kent Edwin Chen Anthony R. Green

In 2005, several groups identified a single gain-of-function point mutation in the JAK2 kinase that was present in the majority of patients with myeloproliferative neoplasms (MPNs). Since this discovery, much effort has been dedicated to understanding the molecular consequences of the JAK2V617F mutation in the haematopoietic system. Three waves of mouse models have been produced recently (bone ...

2013
Friederike Pastore Stephanie Schneider Oliver Christ Wolfgang Hiddemann Karsten Spiekermann

We present a case of a 42-year old female with the rare diagnosis of a myeloproliferative syndrome harboring both a BCR-ABL transclocation and a JAK2V617F mutation.Initially diagnosed with a CML, the patient underwent treatment with imatinib followed by dasatinib. Despite a major molecular response, the patient developed a thrombocytosis. Molecular analyses revealed a heterozygous JAK2V617F mut...

Journal: :Leukemia research 2009
Leonardo Campiotti Lorena Appio Francesco Solbiati Walter Ageno Achille Venco

JAK2 is a tyrosine kinase that plays an important role in the signaling pathways of many hematopoietic growth factor receptors. A single acquired point mutation – V617F – in JAK2 occurs in the great majority of patients with polycythemia vera (PV) and approximately half of the patients with idiopathic myelofibrosis (IMF) or essential thrombocythemia (ET). In contrast, the JAK2-V617F mutation is...

Journal: :Cancer cell 2010
Ann Mullally Steven W Lane Brian Ball Christine Megerdichian Rachel Okabe Fatima Al-Shahrour Mahnaz Paktinat J Erika Haydu Elizabeth Housman Allegra M Lord Gerlinde Wernig Michael G Kharas Thomas Mercher Jeffery L Kutok D Gary Gilliland Benjamin L Ebert

We report a Jak2V617F knockin mouse myeloproliferative neoplasm (MPN) model resembling human polycythemia vera (PV). The MPN is serially transplantable and we demonstrate that the hematopoietic stem cell (HSC) compartment has the unique capacity for disease initiation but does not have a significant selective competitive advantage over wild-type HSCs. In contrast, myeloid progenitor populations...

Journal: :Blood 2016
Ayalew Tefferi

Activating JAK2 mutations can arise from chromosomal translocations or point mutations/deletions/insertions. The former result in JAK2 fusion proteins that always involve the JAK2 kinase domain (JH1), in association with an oligomerization domain from one of several partner proteins, which promotes constitutive JAK2 phosphorylation and signal activation. Tumor phenotypes associated with JAK2 fu...

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