نتایج جستجو برای: جهش jak2

تعداد نتایج: 7772  

2015
Franck Debeurme Catherine Lacout Claudine Moratal Rebecca G Bagley William Vainchenker Francisco Adrian Jean-Luc Villeval

JAK2 inhibition therapy is used to treat patients suffering from myeloproliferative neoplasms (MPN). Conflicting data on this therapy are reported possibly linked to the types of inhibitors or disease type. Therefore, we decided to compare in mice the effect of a JAK2 inhibitor, Fedratinib, in MPN models of increasing severity: polycythemia vera (PV), post-PV myelofibrosis (PPMF) and rapid post...

Journal: :Medicina 2011
Ana Lisa Basquiera Aldo H Tabares Néstor Soria Miriam Salguero Ricardo Ryser Juan José García

We aimed to study patients with splanchnic vein thrombosis (SVT) and cerebral vein thrombosis (CVT) searching for JAK2 mutations. We evaluated 14 patients (median age: 41.5 years) with portal vein thrombosis (PVT) = 7; mesenteric vein thrombosis (MVT) = 3; and CVT = 4. JAK2 V617F was assessed by allele specific PCR of peripheral blood DNA. In addition, DNA was sequenced for other JAK2 mutations...

Journal: :Blood 2010
Juan Li Dominik Spensberger Jong Sook Ahn Shubha Anand Philip A Beer Cedric Ghevaert Edwin Chen Ariel Forrai Linda M Scott Rita Ferreira Peter J Campbell Steve P Watson Pentao Liu Wendy N Erber Brian J P Huntly Katrin Ottersbach Anthony R Green

The JAK2 V617F mutation is found in most patients with a myeloproliferative neoplasm and is sufficient to produce a myeloproliferative phenotype in murine retroviral transplantation or transgenic models. However, several lines of evidence suggest that disease phenotype is influenced by the level of mutant JAK2 signaling, and we have therefore generated a conditional knock-in mouse in which a hu...

2017
Elisabeth M.P. Steeghs Isabel S. Jerchel Willemieke de Goffau-Nobel Alex Q. Hoogkamer Judith M. Boer Aurélie Boeree Cesca van de Ven Marco J. Koudijs Nicolle J.M. Besselink Hester A. de Groot-Kruseman Christian Michel Zwaan Martin A. Horstmann Rob Pieters Monique L. den Boer

JAK2 abnormalities may serve as target for precision medicines in pediatric B-cell precursor acute lymphoblastic leukemia (BCP-ALL). In the current study we performed a screening for JAK2 mutations and translocations, analyzed the clinical outcome and studied the efficacy of two JAK inhibitors in primary BCP-ALL cells. Importantly, we identify a number of limitations of JAK inhibitor therapy. J...

Journal: :Molecular cancer therapeutics 2010
Fabienne Baffert Catherine H Régnier Alain De Pover Carole Pissot-Soldermann Gisele A Tavares Francesca Blasco Josef Brueggen Patrick Chène Peter Drueckes Dirk Erdmann Pascal Furet Marc Gerspacher Marc Lang David Ledieu Lynda Nolan Stephan Ruetz Joerg Trappe Eric Vangrevelinghe Markus Wartmann Lorenza Wyder Francesco Hofmann Thomas Radimerski

The recent discovery of an acquired activating point mutation in JAK2, substituting valine at amino acid position 617 for phenylalanine, has greatly improved our understanding of the molecular mechanism underlying chronic myeloproliferative neoplasms. Strikingly, the JAK2(V617F) mutation is found in nearly all patients suffering from polycythemia vera and in roughly every second patient sufferi...

Journal: :The Journal of biological chemistry 2002
Pipsa Saharinen Olli Silvennoinen

Janus (Jak) tyrosine kinases contain a tyrosine kinase (JH1) domain adjacent to a catalytically inactive pseudokinase domain (JH2). The JH2 domain has been implicated in regulation of Jak activity, but its function remains poorly understood. Here, we found that the JH2 domain negatively regulates the activity of Jak2 and Jak3. Deletion of JH2 resulted in increased tyrosine phosphorylation of th...

Journal: :Blood 2013
Koichi Takahashi Keyur P Patel Hagop Kantarjian Rajyalakshmi Luthra Sherry Pierce Jorge Cortes Srdan Verstovsek

Detection of the JAK2 p.V617F mutation and measurement of its allele burden can be performed using both peripheral blood (PB) and bone marrow (BM) samples from patients with myeloproliferative neoplasms (MPNs). However, the diagnostic accuracy of detecting the JAK2 p.V617F mutation and quantifying its allele burden in PB and BM samples has not been systematically compared. We retrospectively an...

2017
Kyoung Bin Yoon Sung Yun Cho Su Jin An Kyeong Ryang Park Hyo Jeong Lee Hae Sung Yoon Sun-Mi Lee Yong-Chul Kim Sun-Young Han

Janus kinase 2 (JAK2) is a non-receptor tyrosine kinase that regulates the signal transducer and activator of transcription (STAT) signaling pathway. Deregulation of JAK2 signaling has previously been observed in hematologic malignancies, including erythroleukemia. In the present study, an aminopyridine derivative compound, KRC-180, exhibited direct inhibition of the JAK2 protein at the catalyt...

Journal: :JCI insight 2017
Tharini Sivasubramaniyam Stephanie A Schroer Angela Li Cynthia T Luk Sally Yu Shi Rickvinder Besla David W Dodington Adam H Metherel Alex P Kitson Jara J Brunt Joshua Lopes Kay-Uwe Wagner Richard P Bazinet Michelle P Bendeck Clinton S Robbins Minna Woo

Atherosclerosis is considered both a metabolic and inflammatory disease; however, the specific tissue and signaling molecules that instigate and propagate this disease remain unclear. The liver is a central site of inflammation and lipid metabolism that is critical for atherosclerosis, and JAK2 is a key mediator of inflammation and, more recently, of hepatic lipid metabolism. However, precise e...

2017
Ioannis Panagopoulos Ludmila Gorunova Signe Spetalen Assia Bassarova Klaus Beiske Francesca Micci Sverre Heim

Acquired mutations were recently described in cutaneous T-cell lymphomas for the JAK1, JAK3, STAT3, and STAT5B genes of the JAK-STAT pathway. In the present study, RNA-sequencing of a primary cutaneous CD4 positive T-cell lymphoma carrying a three-way t(9;13;16)(p24;q34;p11) chromosome translocation showed that JAK2 from chromosome band 9p24 was rearranged and fused to a novel partner gene, ATX...

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