نتایج جستجو برای: jak2v617f mutation

تعداد نتایج: 291772  

Journal: :Blood 2012
Valentina Poletto Vittorio Rosti Laura Villani Paolo Catarsi Adriana Carolei Rita Campanelli Margherita Massa Myriam Martinetti Gianluca Viarengo Alberto Malovini Anna Rita Migliaccio Giovanni Barosi

The frequency of A3669G single nucleotide polymorphism (SNP) of human glucocorticoid receptor has been reported increased in polycythemia vera. We investigated the frequency of A3669G SNP and its impact on disease phenotype and progression in 499 patients with primary myelofibrosis (PMF). The distribution of the A3669G allele differed between PMF patients and 2 healthy control populations (odds...

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...

2013
David G. Kent Juan Li Hinal Tanna Juergen Fink Kristina Kirschner Dean C. Pask Yvonne Silber Tina L. Hamilton Rachel Sneade Benjamin D. Simons Anthony R. Green

Recent descriptions of significant heterogeneity in normal stem cells and cancers have altered our understanding of tumorigenesis, emphasizing the need to understand how single stem cells are subverted to cause tumors. Human myeloproliferative neoplasms (MPNs) are thought to reflect transformation of a hematopoietic stem cell (HSC) and the majority harbor an acquired V617F mutation in the JAK2 ...

2017
Margherita Perricone Nicola Polverelli Giovanni Martinelli Lucia Catani Emanuela Ottaviani Elisa Zuffa Eugenia Franchini Arbana Dizdari Dorian Forte Elena Sabattini Michele Cavo Nicola Vianelli Francesca Palandri

Since low JAK2V617F allele burden (AB) has been detected also in healthy subjects, its clinical interpretation may be challenging in patients with chronic myeloproliferative neoplasms (MPNs). We tested 1087 subjects for JAK2V617F mutation on suspicion of hematological malignancy. Only 497 (45.7%) patients were positive. Here we present clinical and laboratory parameters of a cohort of 35/497 pa...

Journal: :PLoS Medicine 2006
Yana Pikman Benjamin H Lee Thomas Mercher Elizabeth McDowell Benjamin L Ebert Maricel Gozo Adam Cuker Gerlinde Wernig Sandra Moore Ilene Galinsky Daniel J DeAngelo Jennifer J Clark Stephanie J Lee Todd R Golub Martha Wadleigh D. Gary Gilliland Ross L Levine

BACKGROUND The JAK2V617F allele has recently been identified in patients with polycythemia vera (PV), essential thrombocytosis (ET), and myelofibrosis with myeloid metaplasia (MF). Subsequent analysis has shown that constitutive activation of the JAK-STAT signal transduction pathway is an important pathogenetic event in these patients, and that enzymatic inhibition of JAK2V617F may be of therap...

Journal: :The Journal of biological chemistry 2008
Xiaohui Lu Lily Jun-Shen Huang Harvey F Lodish

The majority of the BCR-ABL-negative myeloproliferative disorders express the mutant JAK2, JAK2V617F. Previously we showed that constitutive activation of this oncogenic JAK2 mutant in Ba/F3 or 32D cells requires coexpression of a cognate homodimeric cytokine receptor, such as the EpoR. However, overexpression of JAK2V617F in Ba/F3 cells renders them cytokine-independent for growth in the absen...

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