Clinical presentation and differential splicing of SRSF2, U2AF1 and SF3B1 mutations in patients with acute myeloid leukemia

RNA splicing alterations induce a cellular stress response associated with poor prognosis in Acute Myeloid Leukemia

(2020) Govardhan Anande et al.   CLINICAL CANCER RESEARCH

U1 snRNP regulates cancer cell migration and invasion in vitro

(2020) Jung-Min Oh et al.   Nature Communications

Coordinated alterations in RNA splicing and epigenetic regulation drive leukaemogenesis

(2019) Akihide Yoshimi et al.   NATURE

Impact of spliceosome mutations on RNA splicing in myelodysplasia: dysregulated genes/pathways and clinical associations

(2018) Andrea Pellagatti et al.   BLOOD

SRSF2 mutations drive oncogenesis by activating a global program of aberrant alternative splicing in hematopoietic cells

(2018) Yang Liang et al.   LEUKEMIA

The Augmented R-Loop Is a Unifying Mechanism for Myelodysplastic Syndromes Induced by High-Risk Splicing Factor Mutations

(2018) Liang Chen et al.   MOLECULAR CELL

Prediction of acute myeloid leukaemia risk in healthy individuals

(2018) Sagi Abelson et al.   NATURE

Aberrant splicing and defective mRNA production induced by somatic spliceosome mutations in myelodysplasia

(2018) Yusuke Shiozawa et al.   Nature Communications

Functional genomic landscape of acute myeloid leukaemia

(2018) Jeffrey W. Tyner et al.   NATURE

Focal Adhesion Genes Refine the Intermediate-Risk Cytogenetic Classification of Acute Myeloid Leukemia

(2018) Victor Pallarès et al.   Cancers

Dual inhibition of EZH1/2 breaks the quiescence of leukemia stem cells in acute myeloid leukemia

(2017) S Fujita et al.   LEUKEMIA

Salmon provides fast and bias-aware quantification of transcript expression

(2017) Rob Patro et al.   NATURE METHODS

Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel

(2016) Hartmut Döhner et al.   BLOOD

Spectrum and prognostic relevance of driver gene mutations in acute myeloid leukemia

(2016) K. H. Metzeler et al.   BLOOD

Myelodysplasia-associated mutations in serine/arginine-rich splicing factor SRSF2 lead to alternative splicing of CDC25C

(2016) Lindsey Skrdlant et al.   BMC MOLECULAR BIOLOGY

EWSR1/ELF5induces acute myeloid leukemia by inhibiting p53/p21 pathway

(2016) Akifumi Endo et al.   CANCER SCIENCE

Therapeutic targeting of splicing in cancer

(2016) Stanley Chun-Wei Lee et al.   NATURE MEDICINE

Genomic Classification and Prognosis in Acute Myeloid Leukemia

(2016) Elli Papaemmanuil et al.   NEW ENGLAND JOURNAL OF MEDICINE

The prognostic implication of SRSF2 mutations in Chinese patients with acute myeloid leukemia

(2016) Jing Yang et al.   TUMOR BIOLOGY

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

(2016) Samar Alsafadi et al.   Nature Communications

SRSF2 Mutations Contribute to Myelodysplasia by Mutant-Specific Effects on Exon Recognition

(2015) Eunhee Kim et al.   CANCER CELL

Mutant U2AF1 Expression Alters Hematopoiesis and Pre-mRNA Splicing In Vivo

(2015) Cara Lunn Shirai et al.   CANCER CELL

limma powers differential expression analyses for RNA-sequencing and microarray studies

(2015) Matthew E. Ritchie et al.   NUCLEIC ACIDS RESEARCH

Why weight? Modelling sample and observational level variability improves power in RNA-seq analyses

(2015) Ruijie Liu et al.   NUCLEIC ACIDS RESEARCH

Genetic landscape of recurrent ASXL1, U2AF1, SF3B1, SRSF2, and EZH2 mutations in 304 Chinese patients with myelodysplastic syndromes

(2015) Lingyun Wu et al.   TUMOR BIOLOGY

A Function for the hnRNP A1/A2 Proteins in Transcription Elongation

(2015) Bruno Lemieux et al.   PLoS One

Isolated trisomy 13 defines a homogeneous AML subgroup with high frequency of mutations in spliceosome genes and poor prognosis

(2014) T. Herold et al.   BLOOD

U2AF1 mutations alter sequence specificity of pre-mRNA binding and splicing

(2014) T Okeyo-Owuor 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

voom: precision weights unlock linear model analysis tools for RNA-seq read counts

(2014) Charity W Law et al.   GENOME BIOLOGY

Patterns of missplicing due to somatic U2AF1 mutations in myeloid neoplasms

(2013) B. Przychodzen et al.   BLOOD

Clinical and biological implications of driver mutations in myelodysplastic syndromes

(2013) E. Papaemmanuil et al.   BLOOD

The Changing Mutational Landscape of Acute Myeloid Leukemia and Myelodysplastic Syndrome

(2013) Connie A. Larsson et al.   MOLECULAR CANCER RESEARCH

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

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

(2012) F. Thol et al.   BLOOD

Genetic analysis of patients with leukemic transformation of myeloproliferative neoplasms shows recurrent SRSF2 mutations that are associated with adverse outcome

(2012) S.-J. Zhang et al.   BLOOD

The clinical implication of SRSF2 mutation in patients with myelodysplastic syndrome and its stability during disease evolution

(2012) S.-J. Wu et al.   BLOOD

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

(2012) H. Makishima et al.   BLOOD

CUX1 is a haploinsufficient tumor suppressor gene on chromosome 7 frequently inactivated in acute myeloid leukemia

(2012) M. E. McNerney et al.   BLOOD

Detecting differential usage of exons from RNA-seq data

(2012) S. Anders et al.   GENOME RESEARCH

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

(2011) L. Malcovati et al.   BLOOD

Frequent pathway mutations of splicing machinery in myelodysplasia

(2011) Kenichi Yoshida et al.   NATURE

Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes

(2011) Timothy A Graubert et al.   NATURE GENETICS

SomaticSF3B1Mutation in Myelodysplasia with Ring Sideroblasts

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

A scaling normalization method for differential expression analysis of RNA-seq data

(2010) Mark D Robinson et al.   GENOME BIOLOGY

edgeR: a Bioconductor package for differential expression analysis of digital gene expression data

(2009) M. D. Robinson et al.   BIOINFORMATICS