نتایج جستجو برای: npm1 mutation

تعداد نتایج: 292091  

2010
Hiroyuki Nishikawa Wenwen Wu Yukinori Okada Ashok R. Venkitaraman Tomohiko Ohta

ownloade tein accumulation at DNA double-strand breaks (DSB) is essential for genome stability; however, the nisms governing these events are not fully understood. Here, we report a new role for the nucleophosrotein NPM1 in these mechanisms. Thr199-phosphorylated NPM1 (pT199-NPM1) is recruited to nuclear amage foci induced by ionizing radiation (IR). Foci formation is impaired by depletion of t...

Journal: :Cancer research 2010
Ayaka Koike Hiroyuki Nishikawa Wenwen Wu Yukinori Okada Ashok R Venkitaraman Tomohiko Ohta

Protein accumulation at DNA double-strand breaks (DSB) is essential for genome stability; however, the mechanisms governing these events are not fully understood. Here, we report a new role for the nucleophosmin protein NPM1 in these mechanisms. Thr199-phosphorylated NPM1 (pT199-NPM1) is recruited to nuclear DNA damage foci induced by ionizing radiation (IR). Foci formation is impaired by deple...

2005
Susanne Schnittger Claudia Schoch Wolfgang Kern Cristina Mecucci Claudia Tschulik Massimo F. Martelli Torsten Haferlach Wolfgang Hiddemann Brunangelo Falini

Nucleophosmin (NPM1) exon-12 gene mutations are the hallmark of a large acute myelogenous leukemia (AML) subgroup with normal karyotype, but their prognostic value in this AML subset has not yet been determined. We screened 401 AML patients with normal karyotype treated within the German AML Cooperative Group Protocol 99 (AMLCG99) study for NPM1 mutations. Results were related with partial tand...

2016
Damien Destouches Maha Sader Stéphane Terry Charles Marchand Pascale Maillé Pascale Soyeux Gilles Carpentier Fannie Semprez Jocelyn Céraline Yves Allory José Courty Alexandre De La Taille Francis Vacherot

Despite the advent of several new treatment options over the past years, advanced/metastatic prostate carcinoma (PCa) still remains incurable, which justifies the search for novel targets and therapeutic molecules. Nucleophosmin (NPM1) is a shuttling nucleoprotein involved in tumor growth and its targeting could be a potential approach for cancer therapy. We previously demonstrated that the mul...

2011
Yang Shen Yong-Mei Zhu Xing Fan Jing-Yi Shi Qin-Rong Wang Xiao-Jing Yan Zhao-Hui Gu Yan-Yan Wang Bing Chen Chun-Lei Jiang Han Yan Fei-Fei Chen Hai-Min Chen Zhu Chen Jie Jin Sai-Juan Chen

To evaluate the prognostic value of genetic mutations for acute myeloid leukemia (AML) patients, we examined the gene status for both fusion products such as AML1 (CBF )–ETO, CBF MYH11, PML-RAR , and MLL rearrangement as a result of chromosomal translocations and mutations in genes including FLT3, C-KIT, N-RAS, NPM1, CEBPA, WT1, ASXL1, DNMT3A, MLL, IDH1, IDH2, and TET2 in 1185 AML patients. Cli...

2012
Marta Fernandez-Mercado Bon Ham Yip Andrea Pellagatti Carwyn Davies María José Larrayoz Toshinori Kondo Cristina Pérez Sally Killick Emma-Jane McDonald María Dolores Odero Xabier Agirre Felipe Prósper María José Calasanz James S. Wainscoat Jacqueline Boultwood

Acute myeloid leukemia patients with normal cytogenetics (CN-AML) account for almost half of AML cases. We aimed to study the frequency and relationship of a wide range of genes previously reported as mutated in AML (ASXL1, NPM1, FLT3, TET2, IDH1/2, RUNX1, DNMT3A, NRAS, JAK2, WT1, CBL, SF3B1, TP53, KRAS and MPL) in a series of 84 CN-AML cases. The most frequently mutated genes in primary cases ...

2013
Sarah Huet Laurent Jallades Carole Charlot Kaddour Chabane Franck E. Nicolini Mauricette Michallet Jean-Pierre Magaud Sandrine Hayette

Somatic mutations in the NPM1 gene, which encodes for nucleophosmin, have been reported to be the most frequent genetic abnormalities found in acute myeloid leukaemia (AML). Their identification and quantification remain crucial for the patients' residual disease monitoring. We investigated a new method that could represent a novel reliable alternative to sequencing for its identification. This...

2011
Mikael S. Lindström

At a first glance, ribosome biogenesis and chromatin remodeling are quite different processes, but they share a common problem involving interactions between charged nucleic acids and small basic proteins that may result in unwanted intracellular aggregations. The multifunctional nuclear acidic chaperone NPM1 (B23/nucleophosmin) is active in several stages of ribosome biogenesis, chromatin remo...

Journal: :Blood 2005
Susanne Schnittger Claudia Schoch Wolfgang Kern Cristina Mecucci Claudia Tschulik Massimo F Martelli Torsten Haferlach Wolfgang Hiddemann Brunangelo Falini

Nucleophosmin (NPM1) exon-12 gene mutations are the hallmark of a large acute myelogenous leukemia (AML) subgroup with normal karyotype, but their prognostic value in this AML subset has not yet been determined. We screened 401 AML patients with normal karyotype treated within the German AML Cooperative Group Protocol 99 (AMLCG99) study for NPM1 mutations. Results were related with partial tand...

Journal: :Journal of Hematopathology 2021

Abstract Mixed phenotype acute leukemia (MPAL) is an uncommon disease characterized by currently only limited knowledge concerning biology, clinical presentation, and treatment outcome. We here describe a most unusual case of simultaneous occurrence T-lymphoblastic lymphoma in cervical mediastinal lymph nodes myeloid the bone marrow (BM) successfully treated with allogeneic stem cell transplant...

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