نتایج جستجو برای: پروتئین asxl1

تعداد نتایج: 18286  

Journal: :Molecular cancer research : MCR 2013
Connie A Larsson Gilbert Cote Alfonso Quintás-Cardama

UNLABELLED Over the past few years, large-scale genomic studies of patients with myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML) have unveiled recurrent somatic mutations in genes involved in epigenetic regulation (DNMT3A, IDH1/2, TET2, ASXL1, EZH2 and MLL) and the spliceosomal machinery (SF3B1, U2AF1, SRSF2, ZRSR2, SF3A1, PRPF40B, U2AF2, and SF1). The identification of thes...

Journal: :Blood 2014
Paola Guglielmelli Flavia Biamonte Giada Rotunno Valentina Artusi Lucia Artuso Isabella Bernardis Elena Tenedini Lisa Pieri Chiara Paoli Carmela Mannarelli Rajmonda Fjerza Elisa Rumi Viktoriya Stalbovskaya Matthew Squires Mario Cazzola Rossella Manfredini Claire Harrison Enrico Tagliafico Alessandro M Vannucchi

The JAK1/JAK2 inhibitor ruxolitinib produced significant reductions in splenomegaly and symptomatic burden and improved survival in patients with myelofibrosis (MF), irrespective of their JAK2 mutation status, in 2 phase III studies against placebo (COMFORT-I) and best available therapy (COMFORT-II). We performed a comprehensive mutation analysis to evaluate the impact of 14 MF-associated mutat...

2015
P Guglielmelli G Rotunno T Fanelli A Pacilli G Brogi L Calabresi A Pancrazzi A M Vannucchi

The discovery of mutations in calreticulin (CALR) in patients with primary myelofibrosis (PMF) prompted a reappraisal of the clinical correlates and prognostic impact of the so-called driver mutations that include JAK2V617F, MPLW515L/K/A and CALR in ~ 60%, 5–10% and 20–25% of patients, respectively. As compared with their JAK2V617F counterpart, PMF patients harboring CALR mutations showed young...

2018
Krishna Kalyan Kolluri Constantine Alifrangis Neelam Kumar Yuki Ishii Stacey Price Magali Michaut Steven Williams Syd Barthorpe Howard Lightfoot Sara Busacca Annabel Sharkey Zhenqiang Yuan Elizabeth K Sage Sabarinath Vallath John Le Quesne David A Tice Doraid Alrifai Sylvia von Karstedt Antonella Montinaro Naomi Guppy David A Waller Apostolos Nakas Robert Good Alan Holmes Henning Walczak Dean A Fennell Mathew Garnett Francesco Iorio Lodewyk Wessels Ultan McDermott Samuel M Janes

Malignant mesothelioma (MM) is poorly responsive to systemic cytotoxic chemotherapy and invariably fatal. Here we describe a screen of 94 drugs in 15 exome-sequenced MM lines and the discovery of a subset defined by loss of function of the nuclear deubiquitinase BRCA associated protein-1 (BAP1) that demonstrate heightened sensitivity to TRAIL (tumour necrosis factor-related apoptosis-inducing l...

Journal: :International journal of molecular medicine 2013
Shinichiro Takahashi

The development of novel technologies, such as massively parallel DNA sequencing, has led to the identification of several novel recurrent gene mutations, such as DNA methyltransferase (Dnmt)3a, ten-eleven-translocation oncogene family member 2 (TET2), isocitrate dehydrogenase (IDH)1/2, additional sex comb-like 1 (ASXL1), enhancer of zeste homolog 2 (EZH2) and ubiquitously transcribed tetratric...

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