نتایج جستجو برای: npm1 mutation

تعداد نتایج: 292091  

2017
Jo-Anne van der Krogt Marlies Vanden Bempt Julio Finalet Ferreiro Nicole Mentens Kris Jacobs Ursula Pluys Kathleen Doms Ellen Geerdens Anne Uyttebroeck Pascal Pierre Lucienne Michaux Timothy Devos Peter Vandenberghe Thomas Tousseyn Jan Cools Iwona Wlodarska

Anaplastic lymphoma kinase (ALK)-positive anaplastic large cell lymphoma is characterized by 2p23/ALK aberrations, including the classic t(2;5)(p23;q35)/NPM1-ALK rearrangement present in ~80% of cases and several variant t(2p23/ALK) occurring in the remaining cases. The ALK fusion partners play a key role in the constitutive activation of the chimeric protein and its subcellular localization. U...

ژورنال: :genetics in the 3rd millennium 0
پرسا ایمانی راد parisa imani rad karimineja-najmabadi pathology & genetics center, tehran, iranمرکز ژنتیک و پاتولوژی کریمی نژاد- نجم آبادی لیدا یکتا مرام lida yektamaram پروین رستمی parvin rostami الهام شیروانی elham shirvani حسن ایمانیان hassan imanian حسین نجم آبادی hossein najmabadi

جهش هتروزیگوت ژن نوکلئوفسمین (npm1) اخیراً یکی از شایع ترین اختلالات ژنتیکی در لوکمی میلو یید حاد (aml) است. جهش های ژن npm1 در زنان شایع تر و با تعداد بالای گلبول های سفید همراه است و بروز آن به سن بستگی ندارد. در لوکمی میلو یید حاد (aml)، جهش در npm1 با تمایز مونوسیتیک (m5a در تقسیم بندی fab)، کمبود cd34، یافته های سیتوژنتیک طبیعی، نرمال، جهش های ژن flt3 و پیش آگهی خوب، خصوصاً در بیماران فاقد ج...

Journal: :Haematologica 2011
Maria Stefania De Propris Sara Raponi Daniela Diverio Maria Laura Milani Giovanna Meloni Brunangelo Falini Robin Foà Anna Guarini

The CD33 antigen is expressed on the blast cells of most cases of acute myeloid leukemia and represents a suitable tumor-associated target antigen for antibody-based therapies. The aim of this study was to investigate the relationship between the CD33 levels quantified by mean fluorescence intensity and antibody binding capacity, and the presence/absence of NPM1 and FLT3 gene mutations in 99 ne...

2016
Min Huang Jacqueline S. Garcia Daniel Thomas Li Zhu Le Xuan Truong Nguyen Steven M. Chan Ravindra Majeti Bruno C. Medeiros Beverly S. Mitchell

The mechanisms underlying activation of the BET pathway in AML cells remain poorly understood. We have discovered that autophagy is activated in acute leukemia cells expressing mutant nucleophosmin 1 (NPMc+) or MLL-fusion proteins. Autophagy activation results in the degradation of NPM1 and HEXIM1, two negative regulators of BET pathway activation. Inhibition of autophagy with pharmacologic inh...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2014
Diana M Mitrea Christy R Grace Marija Buljan Mi-Kyung Yun Nicholas J Pytel John Satumba Amanda Nourse Cheon-Gil Park M Madan Babu Stephen W White Richard W Kriwacki

Nucleophosmin (NPM1) is a multifunctional phospho-protein with critical roles in ribosome biogenesis, tumor suppression, and nucleolar stress response. Here we show that the N-terminal oligomerization domain of NPM1 (Npm-N) exhibits structural polymorphism by populating conformational states ranging from a highly ordered, folded pentamer to a highly disordered monomer. The monomer-pentamer equi...

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 genomewide 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....

2018
Hongjun Jin Liyuan Yang Lu Wang Zailin Yang Qian Zhan Yao Tao Qin Zou Yuting Tang Jingrong Xian Shuaishuai Zhang Yipei Jing Ling Zhang

BACKGROUND Acute myeloid leukemia (AML) with mutated nucleophosmin (NPM1) has been recognized as a distinct leukemia entity in the 2016 World Health Organization (WHO) classification. The genetic events underlying oncogenesis in NPM1-mutated AML that is characterized by a normal karyotype remain unclear. Inositol polyphosphate 4-phosphatase type II (INPP4B), a new factor in the phosphoinositide...

2012
Mitsuru Okuwaki Ayako Sumi Miharu Hisaoka Ai Saotome-Nakamura Satoko Akashi Yoshifumi Nishimura Kyosuke Nagata

Sperm chromatin remodeling after oocyte entry is the essential step that initiates embryogenesis. This reaction involves the removal of sperm-specific basic proteins and chromatin assembly with histones. In mammals, three nucleoplasmin/nucleophosmin (NPM) family proteins-NPM1, NPM2 and NPM3-expressed in oocytes are presumed to cooperatively regulate sperm chromatin remodeling. We characterized ...

2017
Malgorzata Zajac Anna Dolnik Grazyna Stasiak Joanna Zaleska Michal Kielbus Jakub Czapinski Matthias Schunn Stephany C. Correa Eliza Glodkowska-Mrowka Reddy Chakkarappan Sundaram Olga Jankowska-Lecka Richard F. Schlenk Hartmut Döhner Konstanze Döhner Andrzej Stepulak Lars Bullinger Krzysztof Giannopoulos

Mutations of the nucleophosmin-1 (NPM1) gene in cytogenetically normal (CN) acute myeloid leukemia (AML) identify a group of patients with more favorable prognosis. NPM1 encodes three main alternatively spliced isoforms R1(B23.1), R2(B23.2), and R3(B23.3). The expression of splice variants R1, R2 and R3 were higher in AML patients compared to normal cells of healthy volunteers (HVs), although R...

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