Splice factor mutations and alternative splicing as drivers of hematopoietic malignancy

SF3B1mutations in patients with myelodysplastic syndromes: The mutation is stable during disease evolution

(2014) Chien-Chin Lin et al.   AMERICAN JOURNAL OF HEMATOLOGY

Driver somatic mutations identify distinct disease entities within myeloid neoplasms with myelodysplasia

(2014) L. Malcovati et al.   BLOOD

Gene mutations and treatment outcome in chronic lymphocytic leukemia: results from the CLL8 trial

(2014) S. Stilgenbauer et al.   BLOOD

Depletion of Sf3b1 impairs proliferative capacity of hematopoietic stem cells but is not sufficient to induce myelodysplasia

(2014) C. Wang et al.   BLOOD

Novel Isoforms of Heat Shock Transcription Factor 1, HSF1γα and HSF1γβ, Regulate Chaperone Protein Gene Transcription

(2014) Andreas Neueder et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The leukemogenicity of Hoxa9 depends on alternative splicing

(2014) C R Stadler et al.   LEUKEMIA

CALR vs JAK2 vs MPL-mutated or triple-negative myelofibrosis: clinical, cytogenetic and molecular comparisons

(2014) A Tefferi et al.   LEUKEMIA

Haploinsufficiency of Sf3b1 leads to compromised stem cell function but not to myelodysplasia

(2014) M Matsunawa et al.   LEUKEMIA

ASXL1 and SETBP1 mutations and their prognostic contribution in chronic myelomonocytic leukemia: a two-center study of 466 patients

(2014) M M Patnaik et al.   LEUKEMIA

Rare SF3B1 R625 mutations in cutaneous melanoma

(2014) Yong Kong et al.   MELANOMA RESEARCH

A dedicated microarray for in-depth analysis of pre-mRNA splicing events: application to the study of genes involved in the response to targeted anticancer therapies

(2014) Marine Pesson et al.   Molecular Cancer

Identification of a BRCA1-mRNA Splicing Complex Required for Efficient DNA Repair and Maintenance of Genomic Stability

(2014) Kienan I. Savage et al.   MOLECULAR CELL

A Gene Expression and Pre-mRNA Splicing Signature That Marks the Adenoma-Adenocarcinoma Progression in Colorectal Cancer

(2014) Marine Pesson et al.   PLoS One

A Pan-Cancer Analysis of Transcriptome Changes Associated with Somatic Mutations in U2AF1 Reveals Commonly Altered Splicing Events

(2014) Angela N. Brooks et al.   PLoS One

Genomic landscape of CD34+ hematopoietic cells in myelodysplastic syndrome and gene mutation profiles as prognostic markers

(2014) L. Xu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The RNA-Binding Protein QKI Suppresses Cancer-Associated Aberrant Splicing

(2014) Feng-Yang Zong et al.   PLoS Genetics

Clinical implications of U2AF1 mutation in patients with myelodysplastic syndrome and its stability during disease progression

(2013) Shang-Ju Wu et al.   AMERICAN JOURNAL OF HEMATOLOGY

Patterns of missplicing due to somatic U2AF1 mutations in myeloid neoplasms

(2013) B. Przychodzen et al.   BLOOD

NOTCH1, SF3B1, and TP53 mutations in fludarabine-refractory CLL patients treated with alemtuzumab: results from the CLL2H trial of the GCLLSG

(2013) A. Schnaiter et al.   BLOOD

TP53, SF3B1, and NOTCH1 mutations and outcome of allotransplantation for chronic lymphocytic leukemia: six-year follow-up of the GCLLSG CLL3X trial

(2013) P. Dreger et al.   BLOOD

Clinical and biological implications of driver mutations in myelodysplastic syndromes

(2013) E. Papaemmanuil et al.   BLOOD

Correlation of CD44v6 expression with ovarian cancer progression and recurrence

(2013) Jun Shi et al.   BMC CANCER

Gene and isoform expression signatures associated with tumor stage in kidney renal clear cell carcinoma

(2013) Qi Liu et al.   BMC Systems Biology

Evolution and Impact of Subclonal Mutations in Chronic Lymphocytic Leukemia

(2013) Dan A. Landau et al.   CELL

Modification of Akt by SUMO conjugation regulates alternative splicing and cell cycle

(2013) Guillermo Risso et al.   CELL CYCLE

SF3B1 mutation is a rare event in Chinese patients with acute and chronic myeloid leukemia

(2013) Jing Yang et al.   CLINICAL BIOCHEMISTRY

A Genome-Wide Aberrant RNA Splicing in Patients with Acute Myeloid Leukemia Identifies Novel Potential Disease Markers and Therapeutic Targets

(2013) Sophia Adamia et al.   CLINICAL CANCER RESEARCH

In vivo mutation of pre-mRNA processing factor 8 (Prpf8) affects transcript splicing, cell survival and myeloid differentiation

(2013) Maria-Cristina Keightley et al.   FEBS LETTERS

Molecular similarity between myelodysplastic form of chronic myelomonocytic leukemia and refractory anemia with ring sideroblasts

(2013) V. Gelsi-Boyer et al.   HAEMATOLOGICA

SF3B1 mutations are infrequently found in non-myelodysplastic bone marrow failure syndromes and mast cell diseases but, if present, are associated with the ring sideroblast phenotype

(2013) V. Visconte et al.   HAEMATOLOGICA

Spliceosome mutations exhibit specific associations with epigenetic modifiers and proto-oncogenes mutated in myelodysplastic syndrome

(2013) S. A. Mian et al.   HAEMATOLOGICA

Role of DNMT3A, TET2, and IDH1/2 mutations in pre-leukemic stem cells in acute myeloid leukemia

(2013) Steven M. Chan et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY

Prognostic Score Including Gene Mutations in Chronic Myelomonocytic Leukemia

(2013) Raphaël Itzykson et al.   JOURNAL OF CLINICAL ONCOLOGY

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

Clonal diversity of recurrently mutated genes in myelodysplastic syndromes

(2013) M J Walter et al.   LEUKEMIA

Age, JAK2V617F and SF3B1 mutations are the main predicting factors for survival in refractory anaemia with ring sideroblasts and marked thrombocytosis

(2013) J Broséus et al.   LEUKEMIA

U2AF1 mutations in primary myelofibrosis are strongly associated with anemia and thrombocytopenia despite clustering with JAK2V617F and normal karyotype

(2013) A Tefferi et al.   LEUKEMIA

SF3B1 mutations correlated to cytogenetics and mutations in NOTCH1, FBXW7, MYD88, XPO1 and TP53 in 1160 untreated CLL patients

(2013) S Jeromin et al.   LEUKEMIA

Mayo prognostic model for WHO-defined chronic myelomonocytic leukemia: ASXL1 and spliceosome component mutations and outcomes

(2013) M M Patnaik et al.   LEUKEMIA

Landscape of genetic lesions in 944 patients with myelodysplastic syndromes

(2013) T Haferlach et al.   LEUKEMIA

Crystal structure of Prp8 reveals active site cavity of the spliceosome

(2013) Wojciech P. Galej et al.   NATURE

Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma

(2013) J William Harbour et al.   NATURE GENETICS

Somatic CALR Mutations in Myeloproliferative Neoplasms with Nonmutated JAK2

(2013) J. Nangalia et al.   NEW ENGLAND JOURNAL OF MEDICINE

BIRC5(survivin) splice variant expression correlates with refractory disease and poor outcome in pediatric acute myeloid leukemia: A report from the Children's Oncology Group

(2013) Andrew S. Moore et al.   PEDIATRIC BLOOD & CANCER

Notch signaling in pancreatic cancer: oncogene or tumor suppressor?

(2013) Jacqueline L. Avila et al.   TRENDS IN MOLECULAR MEDICINE

SF3B1 Mutations Are Associated with Alternative Splicing in Uveal Melanoma

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

RNA sequencing of cancer reveals novel splicing alterations

(2013) Jeyanthy Eswaran et al.   Scientific Reports

Spliceosome mutations involvingSRSF2,SF3B1, andU2AF35in chronic myelomonocytic leukemia: Prevalence, clinical correlates, and prognostic relevance

(2012) Mrinal M. Patnaik et al.   AMERICAN JOURNAL OF HEMATOLOGY

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

SRSF2 mutations in 275 cases with chronic myelomonocytic leukemia (CMML)

(2012) M. Meggendorfer et al.   BLOOD

SF3B1 haploinsufficiency leads to formation of ring sideroblasts in myelodysplastic syndromes

(2012) V. Visconte 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

Survivin is highly expressed in CD34+38- leukemic stem/progenitor cells and predicts poor clinical outcomes in AML

(2012) B. Z. Carter et al.   BLOOD

Monitoring chronic lymphocytic leukemia progression by whole genome sequencing reveals heterogeneous clonal evolution patterns

(2012) A. Schuh et al.   BLOOD

GATA2 zinc finger 1 mutations associated with biallelic CEBPA mutations define a unique genetic entity of acute myeloid leukemia

(2012) P. A. Greif et al.   BLOOD

Integrated mutational and cytogenetic analysis identifies new prognostic subgroups in chronic lymphocytic leukemia

(2012) D. Rossi et al.   BLOOD

SRSF2 mutations in primary myelofibrosis: significant clustering with IDH mutations and independent association with inferior overall and leukemia-free survival

(2012) T. L. Lasho et al.   BLOOD

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

(2012) H. Makishima et al.   BLOOD

The clinical significance of NOTCH1 and SF3B1 mutations in the UK LRF CLL4 trial

(2012) D. G. Oscier et al.   BLOOD

Spliceosomal gene aberrations are rare, coexist with oncogenic mutations, and are unlikely to exert a driver effect in childhood MDS and JMML

(2012) S. Hirabayashi et al.   BLOOD

Revised International Prognostic Scoring System for Myelodysplastic Syndromes

(2012) P. L. Greenberg et al.   BLOOD

GENCODE: The reference human genome annotation for The ENCODE Project

(2012) J. Harrow et al.   GENOME RESEARCH

High frequencies of SF3B1 and JAK2 mutations in refractory anemia with ring sideroblasts associated with marked thrombocytosis strengthen the assignment to the category of myelodysplastic/myeloproliferative neoplasms

(2012) S. Jeromin et al.   HAEMATOLOGICA

Activation of the NOTCH1 pathway in chronic lymphocytic leukemia

(2012) V. Gianfelici   HAEMATOLOGICA

Spliceosomal gene mutations are frequent events in the diverse mutational spectrum of chronic myelomonocytic leukemia but largely absent in juvenile myelomonocytic leukemia

(2012) S. A. Kar et al.   HAEMATOLOGICA

Analysis ofSF3B1mutations in monoclonal B-cell lymphocytosis

(2012) Mariangela Greco et al.   HEMATOLOGICAL ONCOLOGY

Validation of a Prognostic Model and the Impact of Mutations in Patients With Lower-Risk Myelodysplastic Syndromes

(2012) Rafael Bejar et al.   JOURNAL OF CLINICAL ONCOLOGY

Real-time PCR quantification of major Wilms’ tumor gene 1 (WT1) isoforms in acute myeloid leukemia, their characteristic expression patterns and possible functional consequences

(2012) K Kramarzova et al.   LEUKEMIA

Mutations of epigenetic regulators and of the spliceosome machinery in therapy-related myeloid neoplasms and in acute leukemias evolved from chronic myeloproliferative diseases

(2012) M T Voso et al.   LEUKEMIA

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

(2012) M Nikpour et al.   LEUKEMIA

NOTCH1 and SF3B1 mutations can be added to the hierarchical prognostic classification in chronic lymphocytic leukemia

(2012) L Mansouri et al.   LEUKEMIA

The significance of spliceosome mutations in chronic lymphocytic leukemia

(2012) Uri Rozovski et al.   LEUKEMIA & LYMPHOMA

Dynamic Protein-Protein Interaction Wiring of the Human Spliceosome

(2012) Anna Hegele et al.   MOLECULAR CELL

Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes

(2012) Andrew V. Biankin et al.   NATURE

Comprehensive molecular portraits of human breast tumours

(2012) Daniel C. Koboldt et al.   NATURE

Recurrent somatic TET2 mutations in normal elderly individuals with clonal hematopoiesis

(2012) Lambert Busque et al.   NATURE GENETICS

A common BIM deletion polymorphism mediates intrinsic resistance and inferior responses to tyrosine kinase inhibitors in cancer

(2012) King Pan Ng et al.   NATURE MEDICINE

The splicing factor SRSF1 regulates apoptosis and proliferation to promote mammary epithelial cell transformation

(2012) Olga Anczuków et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Chronic Lymphocytic Leukemia withSF3B1Mutation

(2012) Victor Quesada et al.   NEW ENGLAND JOURNAL OF MEDICINE

Clonal Architecture of Secondary Acute Myeloid Leukemia

(2012) Matthew J. Walter et al.   NEW ENGLAND JOURNAL OF MEDICINE

The significant other: splicing by the minor spliceosome

(2012) Janne J. Turunen et al.   Wiley Interdisciplinary Reviews-RNA

Sudemycins, Novel Small Molecule Analogues of FR901464, Induce Alternative Gene Splicing

(2011) Liying Fan et al.   ACS Chemical Biology

SF3B1 mutations are prevalent in myelodysplastic syndromes with ring sideroblasts but do not hold independent prognostic value

(2011) M. M. Patnaik et al.   BLOOD

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

(2011) L. Malcovati et al.   BLOOD

Mutations of the SF3B1 splicing factor in chronic lymphocytic leukemia: association with progression and fludarabine-refractoriness

(2011) D. Rossi et al.   BLOOD

Recent advances in diagnosis, molecular pathology and therapy of chronic myelomonocytic leukaemia

(2011) Ulrike Bacher et al.   BRITISH JOURNAL OF HAEMATOLOGY

Hallmarks of Cancer: The Next Generation

(2011) Douglas Hanahan et al.   CELL

SRSF2 is required for sodium butyrate-mediated p21WAF1 induction and premature senescence in human lung carcinoma cell lines

(2011) Valerie Edmond et al.   CELL CYCLE

Biological validation that SF3b is a target of the antitumor macrolide pladienolide

(2011) Akira Yokoi et al.   FEBS Journal

The anti-tumor drug E7107 reveals an essential role for SF3b in remodeling U2 snRNP to expose the branch point-binding region

(2011) E. G. Folco et al.   GENES & DEVELOPMENT

Oncogenic and tumor suppressor functions of Notch in cancer: it’s NOTCH what you think: Table I.

(2011) Camille Lobry et al.   JOURNAL OF EXPERIMENTAL MEDICINE

SF3B1 mutations in myelodysplastic syndromes: clinical associations and prognostic implications

(2011) F Damm et al.   LEUKEMIA

SF3B1 mutations in primary myelofibrosis: clinical, histopathology and genetic correlates among 155 patients

(2011) T L Lasho et al.   LEUKEMIA

SF3B1, a splicing factor is frequently mutated in refractory anemia with ring sideroblasts

(2011) V Visconte et al.   LEUKEMIA

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

Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia

(2011) Víctor Quesada et al.   NATURE GENETICS

Spliceosome mutations in hematopoietic malignancies

(2011) Christopher N Hahn et al.   NATURE GENETICS

SomaticSF3B1Mutation in Myelodysplasia with Ring Sideroblasts

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

Clinical Effect of Point Mutations in Myelodysplastic Syndromes

(2011) Rafael Bejar et al.   NEW ENGLAND JOURNAL OF MEDICINE

SF3B1and Other Novel Cancer Genes in Chronic Lymphocytic Leukemia

(2011) Lili Wang et al.   NEW ENGLAND JOURNAL OF MEDICINE

The structure and selectivity of the SR protein SRSF2 RRM domain with RNA

(2011) Marie M. Phelan et al.   NUCLEIC ACIDS RESEARCH

Antitumorigenic potential of STAT3 alternative splicing modulation

(2011) F. Zammarchi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Gene expression profiling of erythroblasts from refractory anaemia with ring sideroblasts (RARS) and effects of G-CSF

(2010) Maryam Nikpour et al.   BRITISH JOURNAL OF HAEMATOLOGY

Structural Requirements for the Antiproliferative Activity of Pre-mRNA Splicing Inhibitor FR901464

(2010) Sami Osman et al.   CHEMISTRY-A EUROPEAN JOURNAL

Acetylation and phosphorylation of SRSF2 control cell fate decision in response to cisplatin

(2010) Valerie Edmond et al.   EMBO JOURNAL

Alternative pre-mRNA splicing regulation in cancer: pathways and programs unhinged

(2010) C. J. David et al.   GENES & DEVELOPMENT

Global Profiling and Molecular Characterization of Alternative Splicing Events Misregulated in Lung Cancer

(2010) C. M. Misquitta-Ali et al.   MOLECULAR AND CELLULAR BIOLOGY

Borrelidin modulates the alternative splicing of VEGF in favour of anti-angiogenic isoforms

(2010) J. Woolard et al.   Chemical Science

Spliceosome Structure and Function

(2010) C. L. Will et al.   Cold Spring Harbor Perspectives in Biology

Survivin mediates aberrant hematopoietic progenitor cell proliferation and acute leukemia in mice induced by internal tandem duplication of Flt3

(2009) S. Fukuda et al.   BLOOD

Enhanced activation of STAT pathways and overexpression of survivin confer resistance to FLT3 inhibitors and could be therapeutic targets in AML

(2009) J. Zhou et al.   BLOOD

The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes

(2009) J. W. Vardiman et al.   BLOOD

The Spliceosome: Design Principles of a Dynamic RNP Machine

(2009) Markus C. Wahl et al.   CELL

Synthetic mRNA Splicing Modulator Compounds with in Vivo Antitumor Activity

(2009) Chandraiah Lagisetti et al.   JOURNAL OF MEDICINAL CHEMISTRY

Proposal for a new risk model in myelodysplastic syndrome that accounts for events not considered in the original International Prognostic Scoring System

(2008) Hagop Kantarjian et al.   CANCER

Involvement of Fibroblast Growth Factor Receptor 2 Isoform Switching in Mammary Oncogenesis

(2008) J. Y. Cha et al.   MOLECULAR CANCER RESEARCH

Tau exon 10 alternative splicing and tauopathies

(2008) Fei Liu et al.   Molecular Neurodegeneration

Alternative isoform regulation in human tissue transcriptomes

(2008) Eric T. Wang et al.   NATURE

Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing

(2008) Qun Pan et al.   NATURE GENETICS

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

(2008) Jacqueline Boultwood et al.   PLoS One

Transcriptional complexity of the HOXA9 locus

(2007) Relja Popovic et al.   BLOOD CELLS MOLECULES AND DISEASES

PU.1: A crucial and versatile player in hematopoiesis and leukemia

(2007) Philippe Kastner et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY