Frequent pathway mutations of splicing machinery in myelodysplasia
K Yoshida, M Sanada, Y Shiraishi, D Nowak, Y Nagata… - Nature, 2011 - nature.com
Myelodysplastic syndromes and related disorders (myelodysplasia) are a heterogeneous
group of myeloid neoplasms showing deregulated blood cell production with evidence of …
group of myeloid neoplasms showing deregulated blood cell production with evidence of …
Aberrant splicing and defective mRNA production induced by somatic spliceosome mutations in myelodysplasia
Y Shiozawa, L Malcovati, A Gallì, A Sato-Otsubo… - Nature …, 2018 - nature.com
Spliceosome mutations are frequently found in myelodysplasia. Splicing alterations induced
by these mutations, their precise targets, and the effect at the transcript level have not been …
by these mutations, their precise targets, and the effect at the transcript level have not been …
The augmented R-loop is a unifying mechanism for myelodysplastic syndromes induced by high-risk splicing factor mutations
Mutations in several general pre-mRNA splicing factors have been linked to myelodysplastic
syndromes (MDSs) and solid tumors. These mutations have generally been assumed to …
syndromes (MDSs) and solid tumors. These mutations have generally been assumed to …
Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes
Myelodysplastic syndromes (MDS) are hematopoietic stem cell disorders that often progress
to chemotherapy-resistant secondary acute myeloid leukemia (sAML). We used whole …
to chemotherapy-resistant secondary acute myeloid leukemia (sAML). We used whole …
Recurrent SRSF2 mutations in MDS affect both splicing and NMD
Oncogenic mutations in the RNA splicing factors SRSF2, SF3B1, and U2AF1 are the most
frequent class of mutations in myelodysplastic syndromes and are also common in clonal …
frequent class of mutations in myelodysplastic syndromes and are also common in clonal …
Modulation of splicing catalysis for therapeutic targeting of leukemia with mutations in genes encoding spliceosomal proteins
Mutations in genes encoding splicing factors (which we refer to as spliceosomal genes) are
commonly found in patients with myelodysplastic syndromes (MDS) and acute myeloid …
commonly found in patients with myelodysplastic syndromes (MDS) and acute myeloid …
Mutant U2AF1 expression alters hematopoiesis and pre-mRNA splicing in vivo
Heterozygous somatic mutations in the spliceosome gene U2AF1 occur in∼ 11% of patients
with myelodysplastic syndromes (MDS), the most common adult myeloid malignancy. It is …
with myelodysplastic syndromes (MDS), the most common adult myeloid malignancy. It is …
[HTML][HTML] Spliceosome mutations exhibit specific associations with epigenetic modifiers and proto-oncogenes mutated in myelodysplastic syndrome
SA Mian, AE Smith, AG Kulasekararaj, A Kizilors… - …, 2013 - ncbi.nlm.nih.gov
The recent identification of acquired mutations in key components of the spliceosome
machinery strongly implicates abnormalities of mRNA splicing in the pathogenesis of …
machinery strongly implicates abnormalities of mRNA splicing in the pathogenesis of …
Mutant U2AF1-expressing cells are sensitive to pharmacological modulation of the spliceosome
Somatic mutations in spliceosome genes are detectable in∼ 50% of patients with
myelodysplastic syndromes (MDS). We hypothesize that cells harbouring spliceosome gene …
myelodysplastic syndromes (MDS). We hypothesize that cells harbouring spliceosome gene …
Emerging roles of the spliceosomal machinery in myelodysplastic syndromes and other hematological disorders
In humans, the majority of all protein-coding transcripts contain introns that are removed by
mRNA splicing carried out by spliceosomes. Mutations in the spliceosome machinery have …
mRNA splicing carried out by spliceosomes. Mutations in the spliceosome machinery have …