نتایج جستجو برای: mpl mutation

تعداد نتایج: 292840  

Journal: :Blood 2014
Caroline Marty Cécile Saint-Martin Christian Pecquet Sarah Grosjean Joseph Saliba Céline Mouton Emilie Leroy Ashot S Harutyunyan Jean-François Abgrall Rémi Favier Aurélie Toussaint Eric Solary Robert Kralovics Stefan N Constantinescu Albert Najman William Vainchenker Isabelle Plo Christine Bellanné-Chantelot

The main molecular basis of essential thrombocythemia and hereditary thrombocytosis is acquired, and germ-line-activating mutations affect the thrombopoietin signaling axis. We have identified 2 families with hereditary thrombocytosis presenting novel heterozygous germ-line mutations of JAK2. One family carries the JAK2 R867Q mutation located in the kinase domain, whereas the other presents 2 J...

Journal: :Blood 2004
Brian J Lannutti Jonathan G Drachman

In this study we demonstrate that thrombopoietin (TPO)-stimulated Src family kinases (SFKs) inhibit cellular proliferation and megakaryocyte differentiation. Using the Src kinase inhibitors pyrolopyrimidine 1 and 2 (PP1, PP2), we show that TPO-dependent proliferation of BaF3/Mpl cells was enhanced at concentrations that are specific for SFKs. Similarly, proliferation is increased after introduc...

2010
Fatma S. Al-Qahtani

Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited autosomal recessive disorder that presents with thrombocytopenia and absence of megakaryocytes. It presents with bleeding recognized on day 1 of life or at least within the first month. The cause for this disorder appears to be a mutation in the gene for the thrombopoeitin (TPO) receptor, c-Mpl, despite high levels of serum ...

Journal: :Blood 2012
Fu-Sheng Chou Andrea Griesinger Mark Wunderlich Shan Lin Kevin A Link Mahesh Shrestha Susumu Goyama Benjamin Mizukawa Shuhong Shen Guido Marcucci James C Mulloy

AML1-ETO (AE) is a fusion product of translocation (8;21) that accounts for 40% of M2 type acute myeloid leukemia (AML). In addition to its role in promoting preleukemic hematopoietic cell self-renewal, AE represses DNA repair genes, which leads to DNA damage and increased mutation frequency. Although this latter function may promote leukemogenesis, concurrent p53 activation also leads to an in...

Journal: :Blood 2003
Robert Kralovics Andreas S Buser Soon-Siong Teo Jorn Coers Andre Tichelli Anthonie P C van der Maas Radek C Skoda

Decreased expression of c-MPL protein in platelets, increased expression of polycythemia rubra vera 1 (PRV-1) and nuclear factor I-B (NFIB) mRNA in granulocytes, and loss of heterozygosity on chromosome 9p (9pLOH) were described as molecular markers for myeloproliferative disorders (MPDs). To assess whether these markers are clustered in subgroups of MPDs or represent independent phenotypic var...

2017
Liying Ji Mengyao Qian Nana Wu Jianmin Wu

The aim of this study was to analyze the mutation rate of JAK2V617F, MPLW515L/K and CALR genes in adult patients with essential thrombocythemia (ET) and the accuracy of the combined detection by the receiver operating curve. Three hundred and forty-two cases with high-platelets (≥300×109/l) were consecutively selected. The patients were analyzed for routine blood examination, bone marrow biopsy...

2017

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