Genes (24)
Species: human : 24 | |
Human | PPBPL1 | 728045 | | Although the exact mechanism for the progression of myelofibrosis in acute megakaryoblastic leukaemia is unclear, certain humoral factors released from the proliferating megakaryoblasts that are unable to store these factors in their defective alpha-granules, including platelet derived growth factor (PDGF), fibroblast growth factors (FGF), platelet factor-4 (PF-4), transforming growth factor-beta (TGF-beta) and beta-thromboglobulin, could result in increased collagen synthesis by bone marrow fibroblasts. | Human | RBM15 | 64783 | RNA binding motif protein 15 | Involvement of a human gene related to the Drosophila spen gene in the recurrent t(1;22) translocation of acute megakaryocytic leukemia. functional and spatial changes of OTT and BSAC caused by the fusion might perturb their functions, culminating in the development of acute megakaryoblastic leukemia Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia. | Human | MKL1 | 57591 | megakaryoblastic leukemia (translocation) 1 | Recently, a human homologue of BSAC named MAL/MKL1 (megakaryocytic acute leukemia/megakaryoblastic leukemia-1) was identified as a fusion transcript generated by t(1,22) translocation in acute megakaryoblastic leukemia. Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia. | Human | ST7L | 54879 | suppression of tumorigenicity 7 like | Because allelic loss or rearrangements of human chromosome 1p13 region are reported in breast cancer, germ cell tumors, squamous cell carcinoma of head and neck, non-small cell lung cancer, gastrointestinal stromal/smooth muscle tumors (GIST), meningioma, melanoma, acute megakaryoblastic leukemia (M7), and Kaposi;s sarcoma, ST7R might be a novel tumor suppressor gene on human chromosome 1p13. | Human | A4GALT | 53947 | alpha 1,4-galactosyltransferase | expression in megakaryoblastic leukemia cells | Human | GNLY | 10578 | granulysin | The megakaryoblastic leukemia cell line CMK, from a Down's syndromept, expressed granulysin mRNA, suggesting that GNLY is occasionally present in immature multilineage cells or may be characteristic of leukemic cells obtained from Down's syndrome pts | Human | RBM6 | 10180 | RNA binding motif protein 6 | identified a novel fusion of the RNA binding motif 6 (RBM6) gene to CSF1R gene generated presumably by a t(3;5)(p21;q33) translocation that induced a myeloid proliferative disease with features of megakaryoblastic leukemia in a murine transplant model | Human | FXR2 | 9513 | fragile X mental retardation, autosomal homolog 2 | Cloning and Characterization of the Novel Chimeric Gene p53/FXR2 in the Acute Megakaryoblastic Leukemia Cell Line CMK11-5. Western blot analyses have shown that the p53/FXR2 protein is indeed expressed in a Down syndrome-related acute megakaryoblastic leukemia cell line, CMK11-5 cells. | Human | PICALM | 8301 | phosphatidylinositol binding clathrin assembly protein | Presence of CALM-AF10 fusion in children with acute megakaryoblastic leukemia without Down syndrome | Human | MLLT10 | 8028 | myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 | A novel type of MLL/AF10 fusion transcript in a child with acute megakaryocytic leukemia (AML-M7) | Human | PDGFB | 5155 | platelet-derived growth factor beta polypeptide | The c-sis gene expression in cells from a patient with acute megakaryoblastic leukemia and Downs syndrome. The role of the expression of the c-sis gene in acute megakaryoblastic leukemia cells is discussed. The c-sis gene expression in leukemia cells from a patient with acute megakaryoblastic leukemia and Downs syndrome was studied. | Human | TNFRSF11B | 4982 | tumor necrosis factor receptor superfamily, member 11b | IL-11 produced by blastic cells from a patient with acute megakaryocytic leukemia enhanced expression of osteoprotegerin, causing the osteosclerosis observed in this patient | Human | MTR | 4548 | 5-methyltetrahydrofolate-homocysteine methyltransferase | Acute megakaryocytic leukemia | Human | JAK3 | 3718 | Janus kinase 3 | data suggest that both gain-, and loss-of function mutations of jak3 can be acquired in Down syndrome -transient myeloproliferative disorder /acute megakaryoblastic leukaemia (DS-TMD/AMKL) | Human | ITGB3 | 3690 | integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) | AP3, a MoAb reactive with platelet glycoprotein (GPIIIa), was specific for acute megakaryoblastic leukemia. We report a case of acute myeloid leukemia which we have classified as acute megakaryoblastic leukemia because of intracytoplasmic expression of CD61. | Human | ITGA2B | 3674 | integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) | [The value of intracellular CD41 antigen detection to the diagnosis of acute megakaryoblastic leukemia] The effects of interferons (IFN)-alpha, beta 2 and -gamma in inducing megakaryocytic differentiation of blast cells from a patient with acute megakaryoblastic leukaemia (AMegL) was investigated in liquid suspension culture by the increase in CD41 and CD42b expressions using monoclonal antibodies in the APAAP technique. | Human | MNX1 | 3110 | motor neuron and pancreas homeobox 1 | MNX1-ETV6 fusion gene in an acute megakaryoblastic leukemia | Human | GATA1 | 2623 | GATA binding protein 1 (globin transcription factor 1) | findings indicate that loss of wildtype GATA1 constitutes one step in the pathogenesis of acute megakaryoblastic leukemia in Down syndrome Acute megakaryocytic leukemia in Down syndrome may be identified by microarray analysis and that differential gene expression and reflect relative transactivation capacities of the GATA1s and full-length GATA1 proteins Mutations in GATA1 occur in Down syndrome, acute Megakaryoblastic Leukemia amd myeloproliferative disorders GATA1 is likely to play a critical role in the etiology of myeloproliferative disorder and Down syndrome acute megakaryoblastic leukemia, and mutagenesis of GATA1 represents a very early event in DS myeloid leukemogenesis Acute megakaryocytic leukemia GATA1 mutation is associated with Down syndrome related acute megakaryoblastic leukemia Presence of several GATA1 binding sites in the CDAsf promoter and the uniform detection of GATA1 mutations in DS megakaryocytic leukemia suggested the potential role of GATA1 in regulating CDA transcription expression of GATA-1 with a defective N-terminal activation domain contributes to the expansion of transient myeloproliferative disorder blast cells and other genetic changes contribute to the development of acute megakaryocytic leukemia in Down syndrome | Human | FGF1 | 2246 | fibroblast growth factor 1 (acidic) | Although the exact mechanism for the progression of myelofibrosis in acute megakaryoblastic leukaemia is unclear, certain humoral factors released from the proliferating megakaryoblasts that are unable to store these factors in their defective alpha-granules, including platelet derived growth factor (PDGF), fibroblast growth factors (FGF), platelet factor-4 (PF-4), transforming growth factor-beta (TGF-beta) and beta-thromboglobulin, could result in increased collagen synthesis by bone marrow fibroblasts. | Human | ERG | 2078 | v-ets avian erythroblastosis virus E26 oncogene homolog | It is proposed that trisomy 21 facilitates the occurrence of megakaryoblastic leukemias through a shift toward the megakaryoblastic lineage caused by the excess expression of ERG | Human | CSF1R | 1436 | colony stimulating factor 1 receptor | method revealed the presence of an activated colony-stimulating factor 1 receptor (CSF1R) kinase in the acute megakaryoblastic leukemia (AMKL) cell line MKPL-1, essential for the growth and survival of MKPL-1 cells | Human | CDA | 978 | cytidine deaminase | GATA1, cytidine deaminase, and the high cure rate of Down syndrome children with acute megakaryocytic leukemia. | Human | CBS | 875 | cystathionine-beta-synthase | results of this study with clinically relevant cell line models suggest potential mechanisms for disparate patterns of cystathionine beta synthase gene expression in Down syndrome and non-down syndrome megakaryocytic leukemia | Human | BMP6 | 654 | bone morphogenetic protein 6 | Although the exact mechanism for the progression of myelofibrosis in acute megakaryoblastic leukaemia is unclear, certain humoral factors released from the proliferating megakaryoblasts that are unable to store these factors in their defective alpha-granules, including platelet derived growth factor (PDGF), fibroblast growth factors (FGF), platelet factor-4 (PF-4), transforming growth factor-beta (TGF-beta) and beta-thromboglobulin, could result in increased collagen synthesis by bone marrow fibroblasts. Immunolocalization of platelet-derived growth factor, transforming growth factor-beta, and fibronectin in acute megakaryoblastic leukemia manifesting tumor formation. |
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