نتایج جستجو برای: npm1 mutation

تعداد نتایج: 292091  

2017
Susanne Hirsch Tamara J. Blätte Sarah Grasedieck Sibylle Cocciardi Arefeh Rouhi Mojca Jongen-Lavrencic Peter Paschka Jan Krönke Verena I. Gaidzik Hartmut Döhner Richard F. Schlenk Florian Kuchenbauer Konstanze Döhner Anna Dolnik Lars Bullinger

In acute myeloid leukemia, there is growing evidence for splicing pattern deregulation, including differential expression of linear splice isoforms of the commonly mutated gene nucleophosmin (NPM1). In this study, we detect circular RNAs of NPM1 and quantify circRNA hsa_circ_0075001 in a cohort of NPM1 wild-type and mutated acute myeloid leukemia (n=46). Hsa_circ_0075001 expression correlates p...

Journal: :Haematologica 2011
Bénédicte Hivert Jérome Tamburini Anne Vekhoff Olivier Tournilhac Véronique Leblond Pierre Morel

showed at karyotypic examination a deletion that included the NPM1 gene locus at 5q35. However, it should be noted that the inaccuracy of the deleted region assignment by chromosome banding has been reported for 5q deletions in both MDS and AML. Our findings suggest that NPM1 haploinsufficiency may have a role in myeloid malignancies associated with large 5qdeletions contributing to MDS develop...

2015
Laura Arnoldo Riccardo Sgarra Eusebio Chiefari Stefania Iiritano Biagio Arcidiacono Silvia Pegoraro Ilenia Pellarin Antonio Brunetti Guidalberto Manfioletti

High Mobility Group A are non-histone nuclear proteins that regulate chromatin plasticity and accessibility, playing an important role both in physiology and pathology. Their activity is controlled by transcriptional, post-transcriptional, and post-translational mechanisms. In this study we provide evidence for a novel modulatory mechanism for HMGA functions. We show that HMGAs are complexed in...

Journal: :Blood 2010
Wen-Chien Chou Hsin-An Hou Chien-Yuan Chen Jih-Luh Tang Ming Yao Woei Tsay Bor-Shen Ko Shang-Ju Wu Shang-Yi Huang Szu-Chun Hsu Yao-Chang Chen Yen-Ning Huang Yi-Chang Chang Fen-Yu Lee Ming-Chi Liu Chia-Wen Liu Mei-Hsuan Tseng Chi-Fei Huang Hwei-Fang Tien

Mutations of nicotinamide adenine dinucleotide phosphate-dependent isocitrate dehydrogenase gene (IDH1) have been identified in patients with gliomas. Recent genome-wide screening also revealed IDH1 mutation as a recurrent event in acute myeloid leukemia (AML), but its clinical implications in AML are largely unknown. We analyzed 493 adult Chinese AML patients in Taiwan and found 27 patients (5...

2016
Vibeke Andresen Bjarte S Erikstein Herschel Mukherjee André Sulen Mihaela Popa Steinar Sørnes Håkon Reikvam Kok-Ping Chan Randi Hovland Emmet McCormack Øystein Bruserud Andrew G Myers Bjørn T Gjertsen

Mutated nucleophosmin 1 (NPM1) acts as a proto-oncogene and is present in ~30% of patients with acute myeloid leukemia (AML). Here we examined the in vitro and in vivo anti-leukemic activity of the NPM1 and chromosome region maintenance 1 homolog (CRM1) interacting natural product avrainvillamide (AVA) and a fully syntetic AVA analog. The NPM1-mutated cell line OCI-AML3 and normal karyotype pri...

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