نتایج جستجو برای: npm1 mutation

تعداد نتایج: 292091  

Journal: :Blood 2010
Alicja M Gruszka Serena Lavorgna Maria Irno Consalvo Tiziana Ottone Chiara Martinelli Mario Cinquanta Giuseppe Ossolengo Giancarlo Pruneri Francesco Buccisano Mariadomenica Divona Michele Cedrone Emanuele Ammatuna Adriano Venditti Ario de Marco Francesco Lo-Coco Pier Giuseppe Pelicci

Mutations in the nucleophosmin 1 (NPM1) gene are the most frequent genetic aberrations of acute myeloid leukemia (AML) and define a clinically distinct subset of AML. A monoclonal antibody (T26) was raised against a 19-amino acid polypeptide containing the unique C-terminus of the type A NPM1 mutant protein. T26 recognized 10 of the 21 known NPM1 mutants, including the A, B, and D types, which ...

Journal: :Journal of Translational Medicine 2021

Abstract Background The heterogenous cytogenetic and molecular variations were harbored by AML patients, some of which are related with pathogenesis clinical outcomes. We aimed to uncover the intrinsic expression profiles correlating prognostic genetic abnormalities WGCNA. Methods downloaded dataset from BeatAML, TCGA GEO database. Using R (version 4.0.2) ‘WGCNA’ package, co-expression modules ...

Journal: :Clinical chemistry 2005
Emanuele Ammatuna Nèlida Inès Noguera Daniela Zangrilli Paola Curzi Paola Panetta Paola Bencivenga Sergio Amadori Giorgio Federici Francesco Lo-Coco

Application of the erythrocyte glutathione reductase assay in evaluating riboflavin nutritional status in a high school student population. Riboflavin, flavin mononucleotide, and flavin adenine dinucleotide in human plasma and erythrocytes at baseline and after low-dose riboflavin supple-mentation. Recovery from impaired dark adaptation in nightblind pregnant Nepali women who receive small dail...

Journal: :Haematologica 2007
Michela Palmisano Tiziana Grafone Emanuela Ottaviani Nicoletta Testoni Michele Baccarani Giovanni Martinelli

NPM1 mutations have been reported to be the most frequent mutations in acute myeloid leukemia (AML). They are associated with a wide spectrum of morphologic subtypes of AML, normal karyotype and FLT3 mutations. The high frequency of NPM1 mutations might provide a suitable marker for monitoring residual disease of AML.

2007
Richard Guyon Susan E. Pearce-Kelling Caroline J. Zeiss Gregory M. Acland Gustavo D. Aguirre

PURPOSE Canine X-linked progressive retinal atrophy (XLPRA) is caused by mutations in RPGR exon ORF15, which is also a mutation hotspot in human X-linked retinitis pigmentosa 3 (RP3). The XLPRA1 form of disease has shown extensive phenotypic variability in a colony of dogs that all inherited the same mutant X-chromosome. This variability in onset and severity makes XLPRA1 a valuable model to us...

2015
Hsiao-Wen Kao Der-Cherng Liang Ming-Chung Kuo Jin-Hou Wu Po Dunn Po-Nan Wang Tung-Liang Lin Yu-Shu Shih Sung-Tzu Liang Tung-Huei Lin Chen-Yu Lai Chun-Hui Lin Lee-Yung Shih

The mutational profiles of acute myeloid leukemia (AML) with partial tandem duplication of mixed-lineage leukemia gene (MLL-PTD) have not been comprehensively studied. We studied 19 gene mutations for 98 patients with MLL-PTD AML to determine the mutation frequency and clinical correlations. MLL-PTD was screened by reverse-transcriptase PCR and confirmed by real-time quantitative PCR. The mutat...

Journal: :Blood 2010
Hsin-An Hou Tai-Chung Huang Liang-In Lin Chieh-Yu Liu Chien-Yuan Chen Wen-Chien Chou Jih-Luh Tang Mei-Hsuan Tseng Chi-Fei Huang Ying-Chieh Chiang Fen-Yu Lee Ming-Chih Liu Ming Yao Shang-Yi Huang Bor-Sheng Ko Szu-Chun Hsu Shang-Ju Wu Woei Tsay Yao-Chang Chen Hwei-Fang Tien

The impact of WT1 mutations in acute myeloid leukemia (AML) is not completely settled. We aimed to determine the clinical implication of WT1 mutation in 470 de novo non-M3 AML patients and its stability during the clinical course. WT1 mutations were identified in 6.8% of total patients and 8.3% of younger patients with normal karyotype (CN-AML). The WT1 mutation was closely associated with youn...

Journal: :Atlas of Genetics and Cytogenetics in Oncology and Haematology 2010

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