Genes (45)
Species: human : 45 | |
Human | ZFPM1 | 161882 | zinc finger protein, FOG family member 1 | Megakaryocytes from idiopathic myelofibrosis patients have reduced GATA-1 content, possibly contributing to disease pathogenesis as in the GATA-1(low) mice | Human | CD177 | 57126 | CD177 molecule | PATIENTS AND METHODS: We analyzed the expression of PRV-1 in granulocytes isolated from 37 patients with ET, 37 patients with PV, 25 patients with ST, 10 patients with SE, 25 patients with secondary leukocytosis (SL), five patients with chronic myelogenous leukemia (CML), five patients with chronic idiopathic myelofibrosis (IM), five patients with myelodysplastic syndrome (MDS), and 20 normal individuals by PRV-1-specific RT-PCR. | Human | NOG | 9241 | noggin | NOG is involved in myeloproliferative disease associated with myelofibrosis | Human | SOCS3 | 9021 | suppressor of cytokine signaling 3 | SOCS3 promoter methylation iss detected in 32% of patients with idiopathic myelofibrosis suggesting a role for SOCS3 methylation in this disorder | Human | D13S25 | 8101 | Disrupted in B-cell neoplasia | To identify a commonly deleted region of 13q14 in idiopathic myelofibrosis (IMF), we used fluorescence in situ hybridization analysis to test for deletion of the RB1 and BRCA2 genes, and the microsatellite loci D13S319 and D13S25, in a series of 25 patients. Fluorescence in situ hybridization analysis of 25 cases of idiopathic myelofibrosis and two cases of secondary myelofibrosis: monoallelic loss of RB1, D13S319 and D13S25 loci associated with cytogenetic deletion and translocation involving 13q14. | Human | HMGA2 | 8091 | high mobility group AT-hook 2 | Dysregulation and overexpression of HMGA2 in myeloid progenitors contribute to the pathogenesis of myelofibrosis with myeloid metaplasia | Human | CXCR4 | 7852 | chemokine (C-X-C motif) receptor 4 | Altered SDF-1/CXCR4 axis in patients with primary myelofibrosis and in the Gata1 low mouse model of the disease Reduced expression of CXCR4 by CD34+ cells is a characteristic of myelofibrosis with myeloid metaplasia which is associated with the constitutive mobilization of CD34+ cells and occurs in patients with advanced forms of the disease abnormal methylation of the CXCR4 promoter is a mechanism contributing to constitutive migration of CD34(+) cells in primary myelofibrosis | Human | VEGFA | 7422 | vascular endothelial growth factor A | bone marrow expression in myelofibrosis with myeloid metaplasia | Human | TGFB1 | 7040 | transforming growth factor, beta 1 | TGF-beta1 is highly expressed in hairy cells and is directly involved in the pathogenesis of bone marrow reticulin fibrosis in hairy cell leukemia The mRNA levels of TGF-beta1 were significantly produced by the megakaryocytes may be associated with the etiology of bone marrow fibrosis in AMM | Human | TAC1 | 6863 | tachykinin, precursor 1 | REVIEW: Substance p-fibronectin-cytokine interactions in myeloproliferative disorders with bone marrow fibrosis | Human | STAT5B | 6777 | signal transducer and activator of transcription 5B | Spontaneous STAT5 activation induces growth factor independence in idiopathic myelofibrosis: possible relationship with FKBP51 overexpression. | Human | STAT5A | 6776 | signal transducer and activator of transcription 5A | Spontaneous STAT5 activation induces growth factor independence in idiopathic myelofibrosis: possible relationship with FKBP51 overexpression. | Human | STAT3 | 6774 | signal transducer and activator of transcription 3 (acute-phase response factor) | mutant JAK2 contributes to myelofibrosis with myeloid metaplasia pathogenesis by constitutively phosphorylating STAT3 and diminishing myeloid cell apoptosis | Human | CXCL12 | 6387 | chemokine (C-X-C motif) ligand 12 | Altered SDF-1/CXCR4 axis in patients with primary myelofibrosis and in the Gata1 low mouse model of the disease | Human | RARB | 5915 | retinoic acid receptor, beta | RARbeta2 acts as a tumor suppressor gene in myelofibrosis with myeloid metaplasia and epigenetic changes are the most significant determinants of RARbeta2 gene activity in these patients | Human | PRG2 | 5553 | proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) | The significantly elevated levels of proMBP in myelofibrosis patients implies that proMBP could be an important stromal cytokine in bone marrow fibrosis | Human | PDGFB | 5155 | platelet-derived growth factor beta polypeptide | The mRNA levels of PDGFB were significantly produced by the megakaryocytes may be associated with the etiology of bone marrow fibrosis in AMM | Human | TNFRSF11B | 4982 | tumor necrosis factor receptor superfamily, member 11b | Osteosclerosis in advanced chronic idiopathic myelofibrosis is associated with endothelial overexpression of osteoprotegerin. Osteosclerosis in idiopathic myelofibrosis is related to the overproduction of osteoprotegerin (OPG). results suggest that osteosclerosis in idiopathic myelofibrosis may be related to overproduction of OPG, and enhanced level of OPG is not due to the direct effect of TGF-beta1 on the bone marrow stromal cells | Human | NPM1 | 4869 | nucleophosmin (nucleolar phosphoprotein B23, numatrin) | NPM1-mutated acute myeloid leukaemia occurring in JAK2-V617F+ primary myelofibrosis | Human | NOTCH1 | 4851 | notch 1 | Observation of high frequencies of mutations in NOTCH1, NPM and JAK2 in T-cell acute lymphoblastic leukemia, acute myeloid leukemia with normal karyotype and myeloproliferative disorders (polycythemia vera, essential thrombocythemia and idiopathic myelofibrosis) have provided important suggestions for a better understanding of chromosomal translocations. | Human | MPL | 4352 | myeloproliferative leukemia virus oncogene | role of mutant alleles of JAK2 & MPL in the pathogenesis of polycythemia vera, essential thrombocythemia & primary myelofibrosis [review] MPL gene mutations were not associated with erythrocytosis, but segregated primarily with the phenotypes of thrombocytosis, extramedullary disease, myelofibrosis, and osteosclerosis it was concluded that the oncogenic event in idiopathic myelofibrosis associated with the MPLW515L/K mutations probably occurs in a progenitor cell common to both myeloid and lymphoid cells, such as the pluripotent haematopoietic stem cell MPL mutation in myelofibrosis characterises patients with more severe anaemic phenotype However, expression of the platelet thrombopoietin receptor MpI was markedly reduced or absent in 34 of 34 patients with polycythemia vera and in 13 of 14 patients with idiopathic myelofibrosis. Autonomous megakaryocyte growth in essential thrombocythemia and idiopathic myelofibrosis is not related to a c-mpl mutation or to an autocrine stimulation by Mpl-L. MPLW515K, but not JAK2V617F, is expressed in in vitro expanded CD4+ T lymphocytes from primary myelofibrosis patients JAK2 and MPL mutations in polycythemia vera, essential thrombocytosis, and primary myelofibrosis [review] The MPL gene expression was detected in platelets and peripheral blood mononuclear cells from the majority of patients with MPD including chronic myelocytic leukemia (CML), polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF). CONCLUSIONS: Reduced expression of the thrombopoietin receptor MpI is characteristic of polycythemia vera and idiopathic myelofibrosis. Immunohistochemistry revealed heterogeneous Mpl expression by megakaryocytes in CMPD with a stronger accentuation in idiopathic myelofibrosis (IMF) in comparison to polycythaemia vera (PV) and essential thrombocythemia (ET). The objectives of this study were to expand on recent observations that have suggested decreased thrombopoietin receptor (c-Mpl) expression in megakaryocytes of patients with polycythemia vera (PV) and agnogenic myeloid metaplasia (AMM). | Human | MMP14 | 4323 | matrix metallopeptidase 14 (membrane-inserted) | The expression of matrix-modeling genes in chronic idiopathic myelofibrosis (cIMF) is not influenced by the JAK2 mutation status but is predominantly related to the stage of disease | Human | MCAM | 4162 | melanoma cell adhesion molecule | CD146(+) cell involvement in bone marrow stromal changes occurring in primary myelofibrosis are consistent with the capability of these cells to participate in fiber deposition, angiogenesis, and bone formation | Human | KRT7 | 3855 | keratin 7 | altered expression and transcription of SCL in patients' hematopoietic cells emphasizes the possible contribution of this regulatory nuclear factor to the hematopoietic dysregulation, which is a feature of myelofibrosis with myeloid metaplasia | Human | KIT | 3815 | v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog | These data suggest that KIT(D816V+) systemic mastocytosis (SM) can co-exist with JAK2(V617F+) chronic idiopathic myelofibrosis (CIMF) and in some of these SM-CIMF cases, the two mutations are present in the neoplastic cells of both disease components |
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