Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026986 (myelodysplastic syndrome)
 14,926 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

9p21 chromosomal region contains p15INK4b and p16INK4a genes which regulate G1 phase of the cell cycle by inhibition of cyclin-cyclin dependent kinases. The p19ARF protein is translated from an alternative transcript of the p16INK4a gene and regulates G1 and G2 phase of the cell cycle by degradation of the MDM2 protein. p16INK4a and p15INK4b gene homozygous deletions occur mostly in acute lymphoblastic leukemia, ATL secondary to HTLV1 infection, and some lymphoma. Point mutations of p16INK4a or p15INK4b gene seem to be extremely rare, however selective methylations of the p15INK4b or p16INK4a promoters are frequently found in myelodysplastic syndromes and acute leukemias, or lymphomas and myelomas respectively. These data demonstrate that inactivation of gene of the 9p21 region is currently the main molecular event found in hematological malignancies.
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PMID:Cylin/CDK inhibitors of the 9p21 chromosomal region and hematological malignancies 977 Jun 2

9p21 chromosomal region contains p15INK4b and p16INK4a genes which regulate G1 phase of the cell cycle by inhibition of cyclin-cyclin dependent kinases. The p19ARF protein is translated from an alternative transcript of the p16INK4a gene and regulates G1 and G2 phase of the cell cycle by degradation of the MDM2 protein. p16INK4a and p15INK4b gene homozygous deletions occur mostly in acute lymphoblastic leukemia, ATL secondary to HTLV1 infection, and some lymphoma. Point mutations of p16INK4a or p15INK4b gene seem to be extremely rare, however selective methylations of the p15INK4b or p16INK4a promoters are frequently found in myelodysplastic syndromes and acute leukemias, or lymphomas and myelomas respectively. These data demonstrate that inactivation of gene of the 9p21 region is currently the main molecular event found in hematological malignancies.
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PMID:[Inhibitors of cyclins/CDK of the 9p21 chromosomal region and malignant hemopathies]. 981 58

Fragile sites are specific regions of chromosomes prone to breakage when cells are cultured under specific conditions. These sites are divided into two classes: common and rare. Common fragile sites are expressed in all individuals at different frequencies, whereas rare ones are found only in certain individuals. Common and rare fragile sites have been shown to display a number of characteristics of instability being preferential sites for chromosomal deletions, duplications, and rearrangements. Moreover, a majority of mapped oncogenes are located at or near these fragile sites. These observations have led to the suggestion that both classes of fragile sites may play a significant role in chromosomal rearrangements involved in oncogene activation or tumor supressor gene inactivation. For these reasons, involvement of common and rare fragile sites and their relevance to specific chromosome breakpoints in cancer have received much attention. In this study, which reports on the cytogenetic findings obtained from 256 patients with chronic myelocytic leukemia, 103 with acute myelocytic leukemia, 40 with acute lymphocytic leukemia, 33 with myelodysplastic syndrome, we documented the fragile sites involved in chromosomal aberrations involving oncogenes, tumor supressor genes, and other known genes important in cell cycle regulation localized at these sites.
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PMID:Common fragile sites associated with the breakpoints of chromosomal aberrations in hematologic neoplasms. 1194 47