نتایج جستجو برای: itd mutation

تعداد نتایج: 292736  

Journal: :The Journal of neuroscience : the official journal of the Society for Neuroscience 2003
Trevor M Shackleton Bernt C Skottun Robert H Arnott Alan R Palmer

Sensitivity to changes in the interaural time difference (ITD) of 50 msec tones was measured in single units in the inferior colliculus of urethane-anesthetized guinea pigs. ITD functions were measured with 100 repeats and fine spacing (100 points per cycle). The just noticeable difference (jnd) for ITD was determined using receiver operating characteristic (ROC) analysis of the spike-count dis...

Journal: :Haematologica 2011
Hendrik J M de Jonge Peter J M Valk Eveline S J M de Bont Jan Jacob Schuringa Gert Ossenkoppele Edo Vellenga Gerwin Huls

BACKGROUND High white blood cell count at presentation is an unfavorable prognostic factor for treatment outcome in intermediate cytogenetic risk acute myeloid leukemia. Since the impact of white blood cell count on outcome of subgroups defined by the molecular markers NPMc(+) and FLT3-internal tandem duplication (ITD) is unknown, we addressed this issue. DESIGN AND METHODS We studied the eff...

Journal: :Brain : a journal of neurology 1999
A S Lebre A Durr P Jedynak G Ponsot M Vidailhet Y Agid A Brice

A GAG deletion at position 946 in DYT1, one of the genes responsible for autosomal dominant idiopathic torsion dystonia (ITD), has recently been identified. We tested 24 families and six isolated cases with ITD and found 14 individuals from six French families who carried this mutation, indicating that 20% of the affected families carried the DYT1 mutation. Age at onset was always before 20 yea...

Journal: :Blood 2005
Lucia De Franceschi Simona Sada Annalisa Andreoli Andrea Angheben Stefania Marocco Zeno Bisoffi

patient 2112 is in continued complete remission (CCR; 61 ). Interestingly, patient 1179 showed no FLT3/ITD mutation at relapse (Figure 1C), possibly due to loss of the mutated allele during therapy, or, alternatively, the FLT3/ITD-positive clone was eliminated during chemotherapy with a subsequent relapse from a non–FLT3-mutated parental clone. In conclusion, we confirm the presence of FLT3 mut...

Journal: :Blood 2003
David T Bowen Marion E Frew Sara Rollinson Philippa L Roddam Ann Dring Martyn T Smith Stephen E Langabeer Gareth J Morgan

The etiology of acute myeloid leukemia (AML) is largely unknown. Biologic and epidemiologic data implicate exogenous toxicants, including cytotoxic drugs, benzene, radiation, and cigarette smoking. Allelic variation in genes encoding enzymes such as NADP(H) quinone oxidoreductase (NQO1) and glutathione S-transferase T1 (GSTT1) that metabolize environmental toxicants predispose to subtypes of AM...

2017
Vanessa Y.N. de Arruda Lisa N. Matsuzaki Maria de Lourdes Chauffaille

cute myeloid leukemia (AML) is the most frequent acute eukemia of adult patients with an estimated 10,070 new cases n Brazil in 2016. Most of the cases are de novo, without a efined etiology, and around two thirds of the patients will die f the disease, according to the Instituto Nacional de Câncer INCA).1 Genetic aberrations may help to differentiate patients ho have a good from those with a d...

Journal: :Clinical cancer research : an official journal of the American Association for Cancer Research 2016
Katherine Tarlock Todd A Alonzo Robert B Gerbing Susana C Raimondi Betsy A Hirsch Lillian Sung Jessica A Pollard Richard Aplenc Michael R Loken Alan S Gamis Soheil Meshinchi

PURPOSE Gemtuzumab ozogamicin (GO), a calicheamicin-conjugated mAb against CD33, has been used in the treatment of acute myeloid leukemia (AML). We evaluated the impact of the addition of GO to standard chemotherapy and hematopoietic stem cell transplant (HCT) in patients withFLT3/ITD. EXPERIMENTAL DESIGN We analyzed children withFLT3/ITD-positive AML (n= 183) treated on two consecutive Child...

2014
Yin Liu Jingyan Tang Peter Wakamatsu Huiliang Xue Jing Chen Paul S. Gaynon Shuhong Shen Weili Sun

BACKGROUND Molecular genetic alterations with prognostic significance have been described in childhood acute myeloid leukemia (AML). The aim of this study was to establish cost-effective techniques to detect mutations of FMS-like tyrosine kinase 3 (FLT3), nucleophosmin 1 (NPM1), and a partial tandem duplication within the mixed-lineage leukemia (MLL-PTD) genes in childhood AML. PROCEDURE Nine...

Journal: :Einstein 2011
Elvira Deolinda Rodrigues Pereira Velloso Carlos Henrique Ares Silveira da Motta Juliana Braga Furtado Nydia Strachman Bacal Paulo Augusto Achucarro Silveira Cynthia Bachir Moyses Roberta Sitnik João Renato Rebello Pinho

OBJECTIVE To study the frequency of mutations that may lead to a good or bad prognosis, as well as their relation with the karyotype and immunophenotype in patients with acute myeloid leukemia. METHODS Thirty samples of patients with acute myeloid leukemia were studied, in which FLT3-ITD, FLT3-TKD and NPM1 mutations were investigated. All samples were submitted to immunophenotyping and 25 to ...

Journal: :Blood 2012
Amy Sexauer Alexander Perl Xiaochuan Yang Michael Borowitz Christopher Gocke Trivikram Rajkhowa Christian Thiede Mark Frattini Grant E Nybakken Keith Pratz Judith Karp B Douglas Smith Mark Levis

A hallmark of cancer is the disruption of differentiation within tumor cells. Internal tandem duplication mutations of the FLT3 kinase (FLT3/ITD) occur commonly in acute myeloid leukemia (AML) and are associated with poor survival, leading to efforts to develop FLT3 kinase inhibitors. However, FLT3 inhibitors have thus far met with limited success, inducing only a clearance of peripheral blasts...

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