The role of splicing factor mutations in the pathogenesis of the myelodysplastic syndromes.

[1]  M. Stratton,et al.  Clinical and biological implications of driver mutations in myelodysplastic syndromes. , 2013, Blood.

[2]  G. Mufti,et al.  Recent advances in understanding the molecular pathogenesis of myelodysplastic syndromes , 2013, British journal of haematology.

[3]  J. Maciejewski,et al.  Patterns of missplicing due to somatic U2AF1 mutations in myeloid neoplasms. , 2013, Blood.

[4]  P. Greenberg.  The multifaceted nature of myelodysplastic syndromes: clinical, molecular, and biological prognostic features. , 2013, Journal of the National Comprehensive Cancer Network : JNCCN.

[5]  G. Mufti,et al.  Spliceosome mutations exhibit specific associations with epigenetic modifiers and proto-oncogenes mutated in myelodysplastic syndrome , 2013, Haematologica.

[6]  Benjamin L Ebert,et al.  Molecular pathophysiology of myelodysplastic syndromes. , 2013, Annual review of pathology.

[7]  A. Raza,et al.  The genetic basis of phenotypic heterogeneity in myelodysplastic syndromes , 2012, Nature Reviews Cancer.

[8]  A. Jankowska,et al.  SF3B1 haploinsufficiency leads to formation of ring sideroblasts in myelodysplastic syndromes. , 2012, Blood.

[9]  Seishi Ogawa,et al.  Splicing factor mutations in myelodysplasia , 2012, International Journal of Hematology.

[10]  D. Neuberg,et al.  Validation of a prognostic model and the impact of mutations in patients with lower-risk myelodysplastic syndromes. , 2012, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[11]  Iannis Aifantis,et al.  ASXL1 mutations promote myeloid transformation through loss of PRC2-mediated gene repression. , 2012, Cancer cell.

[12]  J. Maciejewski,et al.  Emerging roles of the spliceosomal machinery in myelodysplastic syndromes and other hematological disorders , 2012, Leukemia.

[13]  M. Gönen,et al.  Genetic analysis of patients with leukemic transformation of myeloproliferative neoplasms shows recurrent SRSF2 mutations that are associated with adverse outcome. , 2012, Blood.

[14]  Aaron A Hoskins,et al.  The spliceosome: a flexible, reversible macromolecular machine. , 2012, Trends in biochemical sciences.

[15]  Michael Heuser,et al.  Frequency and prognostic impact of mutations in SRSF2, U2AF1, and ZRSR2 in patients with myelodysplastic syndromes. , 2012, Blood.

[16]  A. Jankowska,et al.  Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis. , 2012, Blood.

[17]  Claude Preudhomme,et al.  Mutations affecting mRNA splicing define distinct clinical phenotypes and correlate with patient outcome in myelodysplastic syndromes. , 2012, Blood.

[18]  E. Giné,et al.  Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia , 2011, Nature Genetics.

[19]  M. Walter,et al.  Genetics of myelodysplastic syndromes: new insights. , 2011, Hematology. American Society of Hematology. Education Program.

[20]  Li Ding,et al.  RECURRENT MUTATIONS IN THE U2AF1 SPLICING FACTOR IN MYELODYSPLASTIC SYNDROMES , 2011, Nature Genetics.

[21]  O. Abdel-Wahab,et al.  The spliceosome as an indicted conspirator in myeloid malignancies. , 2011, Cancer cell.

[22]  Peter J Campbell,et al.  Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms , 2011, Blood.

[23]  M. Stratton,et al.  Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts. , 2011, The New England journal of medicine.

[24]  S. Sugano,et al.  Frequent pathway mutations of splicing machinery in myelodysplasia , 2011, Nature.

[25]  R. Levine,et al.  Molecular biology of myelodysplastic syndromes. , 2011, Seminars in oncology.

[26]  J. Valcárcel,et al.  Reduced fidelity of branch point recognition and alternative splicing induced by the anti-tumor drug spliceostatin A. , 2011, Genes & development.

[27]  Benjamin L Ebert,et al.  Unraveling the molecular pathophysiology of myelodysplastic syndromes. , 2011, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[28]  E. Brambilla,et al.  Acetylation and phosphorylation of SRSF2 control cell fate decision in response to cisplatin , 2011, The EMBO journal.

[29]  Miaosheng Li,et al.  Structural requirements for the antiproliferative activity of pre-mRNA splicing inhibitor FR901464. , 2011, Chemistry.

[30]  A. McKenzie,et al.  Advances in the 5q- syndrome. , 2010, Blood.

[31]  John R Yates,et al.  Release of SF3 from the intron branchpoint activates the first step of pre-mRNA splicing. , 2010, RNA.

[32]  B. Frey,et al.  Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing , 2008, Nature Genetics.

[33]  T. Golub,et al.  Identification of RPS14 as a 5q- syndrome gene by RNA interference screen , 2007, Nature.

[34]  B. Sander,et al.  Lenalidomide inhibits the malignant clone and up-regulates the SPARC gene mapping to the commonly deleted region in 5q− syndrome patients , 2007, Proceedings of the National Academy of Sciences.

[35]  Xiang-Dong Fu,et al.  Splicing Regulator SC35 Is Essential for Genomic Stability and Cell Proliferation during Mammalian Organogenesis , 2007, Molecular and Cellular Biology.

[36]  M. Minden,et al.  Myelodysplastic syndromes: the complexity of stem-cell diseases , 2007, Nature Reviews Cancer.

[37]  P. Greenberg,et al.  Lenalidomide in the myelodysplastic syndrome with chromosome 5q deletion. , 2006, The New England journal of medicine.

[38]  L. Maquat.  Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics , 2004, Nature Reviews Molecular Cell Biology.

[39]  J. Boultwood,et al.  Activation of the mTOR pathway by the amino acid (L)-leucine in the 5q- syndrome and other ribosomopathies. , 2013, Advances in biological regulation.

[40]  P. Potter,et al.  The development and application of small molecule modulators of SF3b as therapeutic agents for cancer. , 2013, Drug discovery today.

[41]  G. Garcia-Manero,et al.  SF3B1 mutations are prevalent in myelodysplastic syndromes with ring sideroblasts but do not hold independent prognostic value. , 2012, Blood.

[42]  A. MacMillan,et al.  Structural model of the p14/SF3b155 · branch duplex complex. , 2011, RNA.