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Critical Reviews™ in Eukaryotic Gene Expression

Publicou 6 edições por ano

ISSN Imprimir: 1045-4403

ISSN On-line: 2162-6502

The Impact Factor measures the average number of citations received in a particular year by papers published in the journal during the two preceding years. 2017 Journal Citation Reports (Clarivate Analytics, 2018) IF: 1.6 To calculate the five year Impact Factor, citations are counted in 2017 to the previous five years and divided by the source items published in the previous five years. 2017 Journal Citation Reports (Clarivate Analytics, 2018) 5-Year IF: 2.2 The Immediacy Index is the average number of times an article is cited in the year it is published. The journal Immediacy Index indicates how quickly articles in a journal are cited. Immediacy Index: 0.3 The Eigenfactor score, developed by Jevin West and Carl Bergstrom at the University of Washington, is a rating of the total importance of a scientific journal. Journals are rated according to the number of incoming citations, with citations from highly ranked journals weighted to make a larger contribution to the eigenfactor than those from poorly ranked journals. Eigenfactor: 0.00058 The Journal Citation Indicator (JCI) is a single measurement of the field-normalized citation impact of journals in the Web of Science Core Collection across disciplines. The key words here are that the metric is normalized and cross-disciplinary. JCI: 0.33 SJR: 0.345 SNIP: 0.46 CiteScore™:: 2.5 H-Index: 67

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Point Mutations in the AML1/RUNX1 Gene Associated with Myelodysplastic Syndrome

Volume 15, Edição 3, 2005, pp. 183-196
DOI: 10.1615/CritRevEukarGeneExpr.v15.i3.10
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RESUMO

Myelodysplastic syndrome (MDS) is a clonal disorder of hematopoietic stem cells characterized by ineffective and inadequate hematopoiesis. Because MDS is a heterogeneous disorder, specific gene abnormalities implicated in the pathogenesis of MDS have been difficult to identify. Cytogenetic abnormalities are seen in half of the MDS patients and generally consist of partial or complete chromosome deletion or addition, whereas balanced translocations are rare. Although point mutations of critical genes had been demonstrated to contribute to the development of MDS, there was no strong correlation between these mutations and clinical features. Recently, we reported the high incidence of somatic mutations in the AML1/RUNX1 gene (which is a critical regulator of definitive hematopoiesis and the most frequent target for translocation of acute myeloid leukemia [AML]) in MDS, especially refractory anemia with excess blasts (RAEB), RAEB in transformation (RAEBt), and AML following MDS (defined here as MDS/AML). The MDS/AML patients with AML1 mutations had a significantly worse prognosis than those without AML1 mutations. Most AML1 mutants lose trans-activation potential, which leads to a loss of AML1 function. These data indicate that AML1 point mutation is one of the major causes of MDS/AML, and "MDS/AML with AML1 mutation" represents a distinct clinicopathologic-genetic entity.

CITADO POR
  1. Janes Kevin A., RUNX1 and its understudied role in breast cancer, Cell Cycle, 10, 20, 2011. Crossref

  2. Fujita Kazuhiro, Sanada Masashi, Harada Hiroshi, Mori Hiraku, Niikura Haruo, Omine Mitsuhiro, Inazawa Johji, Imoto Issei, Molecular cloning of t(2;7)(p24.3;p14.2), a novel chromosomal translocation in myelodysplastic syndrome-derived acute myeloid leukemia, Journal of Human Genetics, 54, 6, 2009. Crossref

  3. Kirwan Michael, Vulliamy Tom, Marrone Anna, Walne Amanda J., Beswick Richard, Hillmen Peter, Kelly Richard, Stewart Andrew, Bowen David, Schonland Stefan O., Whittle Annika Maria, McVerry Anthony, Gilleece Maria, Dokal Inderjeet, Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia, Human Mutation, 30, 11, 2009. Crossref

  4. Kutlay Nuket Yurur, Pekpak Esra, Altıner Sule, Ileri Talia, Vicdan Arzu Nedime, Dinçaslan Handan, Ince Elif Unal, Tukun Fatma Ajlan, Prognostic impact of RUNX1 and ETV6 gene copy number on pediatric B-cell precursor acute lymphoblastic leukemia with or without hyperdiploidy, International Journal of Hematology, 104, 3, 2016. Crossref

  5. Hayashi Yoshihiro, Harada Yuka, Huang Gang, Harada Hironori, Myeloid neoplasms with germ line RUNX1 mutation, International Journal of Hematology, 106, 2, 2017. Crossref

  6. Pleyer Lisa, Neureiter Daniel, Faber Victoria, Greil Richard, Myelodysplastic Syndromes (MDS), in Chronic Myeloid Neoplasias and Clonal Overlap Syndromes, 2010. Crossref

  7. Aoyagi Yasushige, Hayashi Yoshihiro, Harada Yuka, Choi Kwangmin, Matsunuma Natsumi, Sadato Daichi, Maemoto Yuki, Ito Akihiro, Yanagi Shigeru, Starczynowski Daniel T., Harada Hironori, Mitochondrial Fragmentation Triggers Ineffective Hematopoiesis in Myelodysplastic Syndromes, Cancer Discovery, 12, 1, 2022. Crossref

  8. Kuo M-C, Liang D-C, Huang C-F, Shih Y-S, Wu J-H, Lin T-L, Shih L-Y, RUNX1 mutations are frequent in chronic myelomonocytic leukemia and mutations at the C-terminal region might predict acute myeloid leukemia transformation, Leukemia, 23, 8, 2009. Crossref

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