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Clinical impact of genetic and molecular markers in myelodysplastic syndromes (MDS)
Myelodysplastic syndromes (MDS) are a heterogeneous group of myeloid neoplasms defined by morphologic dysplasia, peripheral cytopenia, and clonal...
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Clinical implications of molecular genetic aberrations in acute myeloid leukemia
The role of different cytogenetic changes has been extensively evaluated in patients with acute myeloid leukemia (AML), and cytogenetic analysis of...
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K313dup is a recurrent CEBPA mutation in de novo acute myeloid leukemia (AML)
The CEBPA gene codes for a transcription factor that has a pivotal role in controlling proliferation and differentiation of myeloid progenitors....
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Myelodysplastic syndromes: molecular pathogenesis and genomic changes
Myelodysplastic syndromes (MDS) are characterized by ineffective hematopoiesis presenting with peripheral cytopenias in combination with a...
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Complementing mutations in core binding factor leukemias: from mouse models to clinical applications
A great proportion of acute myeloid leukemias (AMLs) display cytogenetic abnormalities including chromosomal aberrations and/or submicroscopic...
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Review: genetic models of acute myeloid leukaemia
The use of genetically engineered mice (GEM) have been critical in understanding disease states such as cancer, and none more so than acute...
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Familial essential thrombocythemia with spontaneous megakaryocyte colony formation and acquired JAK2 mutations
Essential thrombocythemia (ET) is a chronic myeloproliferative disorder, characterized by increased proliferation of megakaryocytes and elevated...
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Cooperating gene mutations in acute myeloid leukemia: a review of the literature
Acute myeloid leukemia (AML) is a heterogeneous group of neoplastic disorders with great variability in clinical course and response to therapy, as...
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Chromatin regulation by AML1 complex
The AML1 gene is the most frequent target of chromosomal translocations in acute leukemias. AML1 is essential for definitive hematopoiesis and...
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Transcriptional dysregulation during myeloid transformation in AML
The current paradigm on leukemogenesis indicates that leukemias are propagated by leukemic stem cells. The genomic events and pathways involved in...
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Disruption of ETV6 in intron 2 results in upregulatory and insertional events in childhood acute lymphoblastic leukaemia
We describe four cases of childhood B-cell progenitor acute lymphoblastic leukaemia (BCP-ALL) and one of T-cell (T-ALL) with unexpected numbers of...
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Identification of the novel AML1 fusion partner gene, LAF4, a fusion partner of MLL, in childhood T-cell acute lymphoblastic leukemia with t(2;21)(q11;q22) by bubble PCR method for cDNA
The AML1 gene is frequently rearranged by chromosomal translocations in acute leukemia. We identified that the LAF4 gene on 2q11.2–12 was fused to...
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Leukemogenesis of the EVI1/MEL1 Gene Family
Leukemia is a group of monoclonal diseases that arise from hematopoietic stem and progenitor cells in the bone marrow or other hematopoietic organs....
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Pathogenese und Biologie der akuten myeloischen Leukämie
Acute myeloid leukemia (AML) arises from the clonal expansion of primitive myeloid precursor cells. A series of genetic alterations leads to a...
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A dual role for the API2 moiety in API2-MALT1-dependent NF-κB activation: heterotypic oligomerization and TRAF2 recruitment
Mucosa-associated lymphoid tissue (MALT) lymphomais the most common extranodal lymphoid neoplasm. Chromosomal translocation t(11;18)(q21,q21) is...
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Chromosome 21 abnormalities a review and report of a case of erondu-cymet syndrome
The co-existence of rare clinical findings in a patient with a genetic abnormality has often led to the characterization of new syndromes. Although...