Cryptic splicing events in the iron transporter ABCB7 and other key target genes in SF3B1-mutant myelodysplastic syndromes

The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia

(2016) D. A. Arber et al.   BLOOD

Cancer-associated SF3B1 mutations affect alternative splicing by promoting alternative branchpoint usage

(2016) Samar Alsafadi et al.   Nature Communications

SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts

(2015) L. Malcovati et al.   BLOOD

Aberrant splicing of genes involved in haemoglobin synthesis and impaired terminal erythroid maturation inSF3B1mutated refractory anaemia with ring sideroblasts

(2015) Simona Conte et al.   BRITISH JOURNAL OF HAEMATOLOGY

Combining gene mutation with gene expression data improves outcome prediction in myelodysplastic syndromes

(2015) Moritz Gerstung et al.   Nature Communications

Cancer-Associated SF3B1 Hotspot Mutations Induce Cryptic 3′ Splice Site Selection through Use of a Different Branch Point

(2015) Rachel B. Darman et al.   Cell Reports

Transcriptome Sequencing Reveals Potential Mechanism of Cryptic 3’ Splice Site Selection in SF3B1-mutated Cancers

(2015) Christopher DeBoever et al.   PLoS Computational Biology

Myelodysplastic Syndromes Are Propagated by Rare and Distinct Human Cancer Stem Cells In Vivo

(2014) Petter S. Woll et al.   CANCER CELL

TMEM14C is required for erythroid mitochondrial heme metabolism

(2014) Yvette Y. Yien et al.   JOURNAL OF CLINICAL INVESTIGATION

SF3B1mutations constitute a novel therapeutic target in breast cancer

(2014) Sarah L Maguire et al.   JOURNAL OF PATHOLOGY

Distinct iron architecture in SF3B1-mutant myelodysplastic syndrome patients is linked to an SLC25A37 splice variant with a retained intron

(2014) V Visconte et al.   LEUKEMIA

Disruption of SF3B1 results in deregulated expression and splicing of key genes and pathways in myelodysplastic syndrome hematopoietic stem and progenitor cells

(2014) H Dolatshad et al.   LEUKEMIA

rMATS: Robust and flexible detection of differential alternative splicing from replicate RNA-Seq data

(2014) Shihao Shen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Clinical and biological implications of driver mutations in myelodysplastic syndromes

(2013) E. Papaemmanuil et al.   BLOOD

Transcriptome characterization by RNA sequencing identifies a major molecular and clinical subdivision in chronic lymphocytic leukemia

(2013) P. G. Ferreira et al.   GENOME RESEARCH

Acquired Mutations That Affect Pre-mRNA Splicing in Hematologic Malignancies and Solid Tumors

(2013) L. M. Scott et al.   JNCI-Journal of the National Cancer Institute

TP53 suppression promotes erythropoiesis in del(5q) MDS, suggesting a targeted therapeutic strategy in lenalidomide-resistant patients

(2013) G. Caceres et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

SF3B1 Mutations Are Associated with Alternative Splicing in Uveal Melanoma

(2013) S. J. Furney et al.   Cancer Discovery

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

Mutations affecting mRNA splicing define distinct clinical phenotypes and correlate with patient outcome in myelodysplastic syndromes

(2012) F. Damm et al.   BLOOD

Frequency and prognostic impact of mutations in SRSF2, U2AF1, and ZRSR2 in patients with myelodysplastic syndromes

(2012) F. Thol et al.   BLOOD

SF3B1 haploinsufficiency leads to formation of ring sideroblasts in myelodysplastic syndromes

(2012) V. Visconte et al.   BLOOD

Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis

(2012) H. Makishima et al.   BLOOD

The transporter ABCB7 is a mediator of the phenotype of acquired refractory anemia with ring sideroblasts

(2012) M Nikpour et al.   LEUKEMIA

Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes

(2012) Andrew V. Biankin et al.   NATURE

Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms

(2011) L. Malcovati et al.   BLOOD

The Spliceosome as an Indicted Conspirator in Myeloid Malignancies

(2011) Omar Abdel-Wahab et al.   CANCER CELL

Reduced fidelity of branch point recognition and alternative splicing induced by the anti-tumor drug spliceostatin A

(2011) A. Corrionero et al.   GENES & DEVELOPMENT

Frequent pathway mutations of splicing machinery in myelodysplasia

(2011) Kenichi Yoshida et al.   NATURE

SomaticSF3B1Mutation in Myelodysplasia with Ring Sideroblasts

(2011) E. Papaemmanuil et al.   NEW ENGLAND JOURNAL OF MEDICINE

Transcript assembly and quantification by RNA-Seq reveals unannotated transcripts and isoform switching during cell differentiation

(2010) Cole Trapnell et al.   NATURE BIOTECHNOLOGY

Analysis and design of RNA sequencing experiments for identifying isoform regulation

(2010) Yarden Katz et al.   NATURE METHODS

Structural model of the p14/SF3b155{middle dot}branch duplex complex

(2010) M. J. Schellenberg et al.   RNA

Release of SF3 from the intron branchpoint activates the first step of pre-mRNA splicing

(2010) R. M. Lardelli et al.   RNA

Genome-Wide Association between Branch Point Properties and Alternative Splicing

(2010) André Corvelo et al.   PLoS Computational Biology

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

The Role of the Iron Transporter ABCB7 in Refractory Anemia with Ring Sideroblasts

(2008) Jacqueline Boultwood et al.   PLoS One