Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:P05109 (S100A8)
1,212 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Myelodysplastic syndrome (MDS) is characterized by ineffective hematopoiesis including dyserythropoiesis. Recently, several signaling pathways have been implicated in dyserythropoiesis in MDS, such as the p53-S100A8/9-TLR4 pathway, which is involved in ineffective erythropoiesis in 5q- syndrome. Somatic mutations that target SF3B1, which encodes a component of the mRNA splicing machinery, have been identified in approximately 85% of patients with MDS presenting with ring sideroblasts (MDS-RS). SF3B1 mutations confer a change-of-function and cause aberrant splicing of genes that may be involved in the pathogenesis of MDS-RS. Recurrent mutations have also been identified in epigenetic regulator genes in MDS, including polycomb repressive complex 2 (PRC2) genes, and the loss of Ezh2, an enzymatic component of PRC2, enhances ineffective hematopoiesis and induces impaired erythropoiesis. A better understanding of the molecular mechanisms underlying dyserythropoiesis in MDS may lead to innovative novel therapeutic modalities.
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PMID:[Dyserythropoiesis in myelodysplastic syndrome]. 3030 6