title: [Gene mutation and myelodysplastic syndromes with ring sideroblast excess].
abstract: Myelodysplastic syndromes (MDS) are heterogeneous clonal hematopoietic stem cell disorders with different mechanisms and diverse prognosis. The excess of ring sideroblasts (RS) is an important presentation MDS, but the mechanisms of RS appearance are obscure and the treatment of MDS-RS is intractable. Splicing factors play a very important role in the maturation process of eucaryon mRNA, recent studies indicate that there is a significant causal relationship between splicing factor 3B subunit 1 (SF3B1) mutation and the presence of ring sideroblasts. Lucubrating the downstream molecular of the mutated SF3B1 can facilitate exploring the mechanisms and new therapeutic strategies of MDS-RS.
authors.affiliation: Department of Hematology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, Hubei Province, China.
authors.forename: Fan-Kai
authors.initials: FK
authors.lastname: Meng
authors.forename: Li-Fang
authors.initials: LF
authors.lastname: Huang
authors.forename: Jian-Feng
authors.initials: JF
authors.lastname: Zhou
authors.forename: Han-Ying
authors.initials: HY
authors.lastname: Sun
mesh_terms: D000756:Anemia, Sideroblastic / Q000209:etiology / Q000235:genetics*; D000818:Animals; D006801:Humans; D009154:Mutation; D009190:Myelodysplastic Syndromes / Q000150:complications / Q000235:genetics*; D010750:Phosphoproteins / Q000235:genetics*; D000072260:RNA Splicing Factors; D017413:Ribonucleoprotein, U2 Small Nuclear / Q000235:genetics*
chemical_list: D010750:Phosphoproteins; D000072260:RNA Splicing Factors; D017413:Ribonucleoprotein, U2 Small Nuclear; C112491:SF3B1 protein, human