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Publication : The genetic basis of phenotypic heterogeneity in myelodysplastic syndromes.

First Author  Raza A Year  2012
Journal  Nat Rev Cancer Volume  12
Issue  12 Pages  849-59
PubMed ID  23175121 Mgi Jnum  J:193200
Mgi Id  MGI:5467891 Doi  10.1038/nrc3321
Citation  Raza A, et al. (2012) The genetic basis of phenotypic heterogeneity in myelodysplastic syndromes. Nat Rev Cancer 12(12):849-59
abstractText  Myelodysplastic syndromes (MDS) are malignant clonal disorders of haematopoietic stem cells and their microenvironment, affecting older individuals (median age approximately 70 years). Unique features that are associated with MDS - but which are not necessarily present in every patient with MDS - include excessive apoptosis in maturing clonal cells, a pro-inflammatory bone marrow microenvironment, specific chromosomal abnormalities, abnormal ribosomal protein biogenesis, the presence of uniparental disomy, and mutations affecting genes involved in proliferation, methylation and epigenetic modifications. Although emerging insights establish an association between molecular abnormalities and the phenotypic heterogeneity of MDS, their origin and progression remain enigmatic.
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