Roles and mechanisms of alternative splicing in cancer — implications for care

Results of a Clinical Trial of H3B-8800, a Splicing Modulator, in Patients with Myelodysplastic Syndromes (MDS), Acute Myeloid Leukemia (AML) or Chronic Myelomonocytic Leukemia (CMML)

(2020) David P. Steensma et al.   BLOOD

SnapShot: Splicing Alterations in Cancer

(2020) Mohammad Alinoor Rahman et al.   CELL

Predicting Splicing from Primary Sequence with Deep Learning

(2019) Kishore Jaganathan et al.   CELL

Sensitivity to splicing modulation of BCL2 family genes defines cancer therapeutic strategies for splicing modulators

(2019) Daniel Aird et al.   Nature Communications

A VEGF-A/SOX2/SRSF2 network controls VEGFR1 pre-mRNA alternative splicing in lung carcinoma cells

(2019) Cherine Abou Faycal et al.   Scientific Reports

Recurrent hotspot SF3B1 mutations at codon 625 in vulvovaginal mucosal melanoma identified in a study of 27 Australian mucosal melanomas

(2019) Camelia Quek et al.   Oncotarget

BCL-2 family isoforms in apoptosis and cancer

(2019) Chloe F. A. Warren et al.   Cell Death & Disease

Structural Insights into Nuclear pre-mRNA Splicing in Higher Eukaryotes

(2019) Berthold Kastner et al.   Cold Spring Harbor Perspectives in Biology

A human postcatalytic spliceosome structure reveals essential roles of metazoan factors for exon ligation

(2019) Sebastian M. Fica et al.   SCIENCE

PRMT1 loss sensitizes cells to PRMT5 inhibition

(2019) Guozhen Gao et al.   NUCLEIC ACIDS RESEARCH

Deep-learning augmented RNA-seq analysis of transcript splicing

(2019) Zijun Zhang et al.   NATURE METHODS

The splicing factor U2AF1 contributes to cancer progression through a noncanonical role in translation regulation

(2019) Murali Palangat et al.   GENES & DEVELOPMENT

Targeting an RNA-Binding Protein Network in Acute Myeloid Leukemia

(2019) Eric Wang et al.   CANCER CELL

Therapeutic Antisense Oligonucleotides Are Coming of Age

(2019) C. Frank Bennett   Annual Review of Medicine

Mutational Landscape of the Transcriptome Offers Putative Targets for Immunotherapy of Myeloproliferative Neoplasms

(2019) Fiorella Schischlik et al.   BLOOD

Integrating Next-Generation Sequencing in the Clinical Pharmacogenomics Workflow

(2019) Efstathia Giannopoulou et al.   Frontiers in Pharmacology

Diverse Mechanisms of BRAF Inhibitor Resistance in Melanoma Identified in Clinical and Preclinical Studies

(2019) Stephen A. Luebker et al.   Frontiers in Oncology

Cryo-EM Structures of a Group II Intron Reverse Splicing into DNA

(2019) Daniel B. Haack et al.   CELL

Specific inhibition of splicing factor activity by decoy RNA oligonucleotides

(2019) Polina Denichenko et al.   Nature Communications

Interplay Between N6-Methyladenosine (m6A) and Non-coding RNAs in Cell Development and Cancer

(2019) Francesco Fazi et al.   Frontiers in Cell and Developmental Biology

SF3B1 mutation predicts unfavorable treatment-free survival in Chinese chronic lymphocytic leukemia patients

(2019) Yi Miao et al.   Annals of Translational Medicine

Current evidence for treatment with nusinersen for spinal muscular atrophy: a systematic review

(2019) Antoon Meylemans et al.   ACTA NEUROLOGICA BELGICA

Therapeutic Targeting of RNA Splicing Catalysis through Inhibition of Protein Arginine Methylation

(2019) Jia Yi Fong et al.   CANCER CELL

RNA components of the spliceosome regulate tissue- and cancer-specific alternative splicing

(2019) Heidi Dvinge et al.   GENOME RESEARCH

Targeting mRNA processing as an anticancer strategy

(2019) Joana Desterro et al.   NATURE REVIEWS DRUG DISCOVERY

Prognostic value of U2AF1 mutant in patients with de novo myelodysplastic syndromes: a meta-analysis

(2019) Huifang Wang et al.   ANNALS OF HEMATOLOGY

Disease-Causing Mutations in SF3B1 Alter Splicing by Disrupting Interaction with SUGP1

(2019) Jian Zhang et al.   MOLECULAR CELL

Coordinated alterations in RNA splicing and epigenetic regulation drive leukaemogenesis

(2019) Akihide Yoshimi et al.   NATURE

Spliceosomal disruption of the non-canonical BAF complex in cancer

(2019) Daichi Inoue et al.   NATURE

Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma

(2019) Hiromichi Suzuki et al.   NATURE

The U1 spliceosomal RNA is recurrently mutated in multiple cancers

(2019) Shimin Shuai et al.   NATURE

Structural complementarity facilitates E7820-mediated degradation of RBM39 by DCAF15

(2019) Tyler B. Faust et al.   Nature Chemical Biology

Structural Basis and Kinetic Pathway of RBM39 Recruitment to DCAF15 by a Sulfonamide Molecular Glue E7820

(2019) Xinlin Du et al.   STRUCTURE

Prognostic significance of SF3B1 mutations in patients with myelodysplastic syndromes: A meta-analysis

(2019) Pourya Arbab Jafari et al.   CRITICAL REVIEWS IN ONCOLOGY HEMATOLOGY

Molecular choreography of pre-mRNA splicing by the spliceosome

(2019) Ruixue Wan et al.   CURRENT OPINION IN STRUCTURAL BIOLOGY

Structural basis of indisulam-mediated RBM39 recruitment to DCAF15 E3 ligase complex

(2019) Dirksen E. Bussiere et al.   Nature Chemical Biology

U2AF1 mutation variants in myelodysplastic syndromes and their clinical correlates

(2018) Ayalew Tefferi et al.   AMERICAN JOURNAL OF HEMATOLOGY

Mutations and prognosis in myelodysplastic syndromes: karyotype-adjusted analysis of targeted sequencing in 300 consecutive cases and development of a genetic risk model

(2018) Naseema Gangat et al.   AMERICAN JOURNAL OF HEMATOLOGY

Final results of a phase 2, open-label study of indisulam, idarubicin, and cytarabine in patients with relapsed or refractory acute myeloid leukemia and high-risk myelodysplastic syndrome

(2018) Rita Assi et al.   CANCER

Clinical Outcomes With Ring Sideroblasts and SF3B1 Mutations in Myelodysplastic Syndromes: MDS Clinical Research Consortium Analysis

(2018) Yazan Migdady et al.   Clinical Lymphoma Myeloma & Leukemia

The role of alternative splicing in cancer drug resistance

(2018) Zahava Siegfried et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Nonsense-mediated mRNA Decay and Cancer

(2018) Maximilian W Popp et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

The role of A-to-I RNA editing in cancer development

(2018) Xiaoyan Xu et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Anti‐tumor efficacy of a novel CLK inhibitor via targeting RNA splicing and MYC‐dependent vulnerability

(2018) Kenichi Iwai et al.   EMBO Molecular Medicine

The cryo-EM structure of the SF3b spliceosome complex bound to a splicing modulator reveals a pre-mRNA substrate competitive mechanism of action

(2018) Lorenzo I. Finci et al.   GENES & DEVELOPMENT

Prognostic significance of SRSF2 mutations in myelodysplastic syndromes and chronic myelomonocytic leukemia: a meta-analysis

(2018) Pourya Arbab Jafari et al.   Hematology

U2AF1 mutation types in primary myelofibrosis: phenotypic and prognostic distinctions

(2018) Ayalew Tefferi et al.   LEUKEMIA

Proteomics Profiling of CLL Versus Healthy B-cells Identifies Putative Therapeutic Targets and a Subtype-independent Signature of Spliceosome Dysregulation

(2018) Harvey E. Johnston et al.   MOLECULAR & CELLULAR PROTEOMICS

Genome Sequencing and RNA-Motif Analysis Reveal Novel Damaging Noncoding Mutations in Human Tumors

(2018) Babita Singh et al.   MOLECULAR CANCER RESEARCH

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

Structural Basis of Splicing Modulation by Antitumor Macrolide Compounds

(2018) Constantin Cretu et al.   MOLECULAR CELL

H3B-8800, an orally available small-molecule splicing modulator, induces lethality in spliceosome-mutant cancers

(2018) Michael Seiler et al.   NATURE MEDICINE

mRNA vaccines — a new era in vaccinology

(2018) Norbert Pardi et al.   NATURE REVIEWS DRUG DISCOVERY

Structure of a human catalytic step I spliceosome

(2018) Xiechao Zhan et al.   SCIENCE

Structures of the fully assembledSaccharomyces cerevisiaespliceosome before activation

(2018) Rui Bai et al.   SCIENCE

Minor spliceosome and disease

(2018) Bhupendra Verma et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Punctuated evolution of canonical genomic aberrations in uveal melanoma

(2018) Matthew G. Field et al.   Nature Communications

Prognostic interaction between bone marrow morphology and SF3B1 and ASXL1 mutations in myelodysplastic syndromes with ring sideroblasts

(2018) Abhishek A. Mangaonkar et al.   Blood Cancer Journal

Somatic Mutational Landscape of Splicing Factor Genes and Their Functional Consequences across 33 Cancer Types

(2018) Michael Seiler et al.   Cell Reports

Systematic Analysis of Splice-Site-Creating Mutations in Cancer

(2018) Reyka G. Jayasinghe et al.   Cell Reports

Hereditary cancer genes are highly susceptible to splicing mutations

(2018) Christy L. Rhine et al.   PLoS Genetics

Alternative-splicing defects in cancer: Splicing regulators and their downstream targets, guiding the way to novel cancer therapeutics

(2018) Laura M. Urbanski et al.   Wiley Interdisciplinary Reviews-RNA

Prognostic Role of Gene Mutations in Chronic Myelomonocytic Leukemia Patients Treated With Hypomethylating Agents

(2018) Matthieu Duchmann et al.   EBioMedicine

Comprehensive Analysis of Alternative Splicing Across Tumors from 8,705 Patients

(2018) André Kahles et al.   CANCER CELL

Synthetic Lethal and Convergent Biological Effects of Cancer-Associated Spliceosomal Gene Mutations

(2018) Stanley Chun-Wei Lee et al.   CANCER CELL

Spliceosome Mutations Induce R Loop-Associated Sensitivity to ATR Inhibition in Myelodysplastic Syndromes

(2018) Hai Dang Nguyen et al.   CANCER RESEARCH

Prognostic Signature of Alternative Splicing Events in Bladder Urothelial Carcinoma Based on Spliceseq Data from 317 Cases

(2018) Rong-quan He et al.   CELLULAR PHYSIOLOGY AND BIOCHEMISTRY

ZFX Mediates Non-canonical Oncogenic Functions of the Androgen Receptor Splice Variant 7 in Castrate-Resistant Prostate Cancer

(2018) Ling Cai et al.   MOLECULAR CELL

Intron retention is a source of neoepitopes in cancer

(2018) Alicia C Smart et al.   NATURE BIOTECHNOLOGY

Alternative splicing in prostate cancer

(2018) Alec Paschalis et al.   Nature Reviews Clinical Oncology

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

(2018) Yusuke Shiozawa et al.   Nature Communications

The Krebs Cycle Connection: Reciprocal Influence Between Alternative Splicing Programs and Cell Metabolism

(2018) Giuseppe Biamonti et al.   Frontiers in Oncology

Detection of mutations in SF3B1, EIF1AX and GNAQ in primary orbital melanoma by candidate gene analysis

(2018) Anna M. Rose et al.   BMC CANCER

Function, clinical application, and strategies of Pre-mRNA splicing in cancer

(2018) Cuixia Di et al.   CELL DEATH AND DIFFERENTIATION

Modulation of MKNK2 alternative splicing by splice-switching oligonucleotides as a novel approach for glioblastoma treatment

(2018) Maxim Mogilevsky et al.   NUCLEIC ACIDS RESEARCH

Noncoding regions are the main source of targetable tumor-specific antigens

(2018) Céline M. Laumont et al.   Science Translational Medicine

Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa

(2018) Adriana Buskin et al.   Nature Communications

Aberrant RNA Splicing in Cancer and Drug Resistance

(2018) Bi-Dar Wang et al.   Cancers

The role of RNA alternative splicing in regulating cancer metabolism

(2017) Itamar Kozlovski et al.   HUMAN GENETICS

Alternative splicing: the pledge, the turn, and the prestige

(2017) L. M. Gallego-Paez et al.   HUMAN GENETICS

Therapeutic Applications of Targeted Alternative Splicing to Cancer Treatment

(2017) Jung-Chun Lin   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Discovery of Allosteric Inhibitors Targeting the Spliceosomal RNA Helicase Brr2

(2017) Misa Iwatani-Yoshihara et al.   JOURNAL OF MEDICINAL CHEMISTRY

Clinical impact of the subclonal architecture and mutational complexity in chronic lymphocytic leukemia

(2017) F Nadeu et al.   LEUKEMIA

Extended follow-up and impact of high-risk prognostic factors from the phase 3 RESONATE study in patients with previously treated CLL/SLL

(2017) J R Brown et al.   LEUKEMIA

Quercetin Targets hnRNPA1 to Overcome Enzalutamide Resistance in Prostate Cancer Cells

(2017) Ramakumar Tummala et al.   MOLECULAR CANCER THERAPEUTICS

Arginine Methylation: The Coming of Age

(2017) Roméo S. Blanc et al.   MOLECULAR CELL

Structure of a pre-catalytic spliceosome

(2017) Clemens Plaschka et al.   NATURE

Personalized RNA mutanome vaccines mobilize poly-specific therapeutic immunity against cancer

(2017) Ugur Sahin et al.   NATURE

Cryo-EM structure of a human spliceosome activated for step 2 of splicing

(2017) Karl Bertram et al.   NATURE

An immunogenic personal neoantigen vaccine for patients with melanoma

(2017) Patrick A. Ott et al.   NATURE

Selective degradation of splicing factor CAPERα by anticancer sulfonamides

(2017) Taisuke Uehara et al.   Nature Chemical Biology

Alternative splicing as a regulator of development and tissue identity

(2017) Francisco E. Baralle et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Anticancer sulfonamides target splicing by inducing RBM39 degradation via recruitment to DCAF15

(2017) Ting Han et al.   SCIENCE

Acquired cross-linker resistance associated with a novel spliced BRCA2 protein variant for molecular phenotyping of BRCA2 disruption

(2017) Stefan Meyer et al.   Cell Death & Disease

Binding to SMN2 pre-mRNA-protein complex elicits specificity for small molecule splicing modifiers

(2017) Manaswini Sivaramakrishnan et al.   Nature Communications

Alternative splicing promotes tumour aggressiveness and drug resistance in African American prostate cancer

(2017) Bi-Dar Wang et al.   Nature Communications

Mutant U2AF1-expressing cells are sensitive to pharmacological modulation of the spliceosome

(2017) Cara Lunn Shirai et al.   Nature Communications

BCL-XL directly modulates RAS signalling to favour cancer cell stemness

(2017) Sophie de Carné Trécesson et al.   Nature Communications

Splicing modulators act at the branch point adenosine binding pocket defined by the PHF5A–SF3b complex

(2017) Teng Teng et al.   Nature Communications

Molecular basis of differential 3′ splice site sensitivity to anti-tumor drugs targeting U2 snRNP

(2017) Luisa Vigevani et al.   Nature Communications

Revealing the Determinants of Widespread Alternative Splicing Perturbation in Cancer

(2017) Yongsheng Li et al.   Cell Reports

The Functional Impact of Alternative Splicing in Cancer

(2017) Héctor Climente-González et al.   Cell Reports

Identification of a small molecule inhibitor that stalls splicing at an early step of spliceosome activation

(2017) Anzhalika Sidarovich et al.   eLife

Copy-number and gene dependency analysis reveals partial copy loss of wild-type SF3B1 as a novel cancer vulnerability

(2017) Brenton R Paolella et al.   eLife

Prognostic value of SRSF2 mutations in patients with de novo myelodysplastic syndromes: A meta-analysis

(2017) Xue Zheng et al.   PLoS One

Widespread alternative exon usage in clinically distinct subtypes of Invasive Ductal Carcinoma

(2017) Sunniva Stordal Bjørklund et al.   Scientific Reports

Epidemiology and clinical relevance of mutations in postpolycythemia vera and postessential thrombocythemia myelofibrosis: A study on 359 patients of the AGIMM group

(2016) Giada Rotunno et al.   AMERICAN JOURNAL OF HEMATOLOGY

Clinical impact of clonal and subclonal TP53, SF3B1, BIRC3, NOTCH1, and ATM mutations in chronic lymphocytic leukemia

(2016) F. Nadeu et al.   BLOOD

Modeling SF3B1 Mutations in Cancer: Advances, Challenges, and Opportunities

(2016) Daichi Inoue et al.   CANCER CELL

Physiologic Expression of Sf3b1 K700E Causes Impaired Erythropoiesis, Aberrant Splicing, and Sensitivity to Therapeutic Spliceosome Modulation

(2016) Esther A. Obeng et al.   CANCER CELL

The BRCA1- 11q Alternative Splice Isoform Bypasses Germline Mutations and Promotes Therapeutic Resistance to PARP Inhibition and Cisplatin

(2016) Y. Wang et al.   CANCER RESEARCH

RNA Splicing Modulation Selectively Impairs Leukemia Stem Cell Maintenance in Secondary Human AML

(2016) Leslie A. Crews et al.   Cell Stem Cell

Molecular Pathways: Understanding and Targeting Mutant Spliceosomal Proteins

(2016) Akihide Yoshimi et al.   CLINICAL CANCER RESEARCH

A network-based analysis of colon cancer splicing changes reveals a tumorigenesis-favoring regulatory pathway emanating from ELK1

(2016) Dror Hollander et al.   GENOME RESEARCH

Large-scale analysis of genome and transcriptome alterations in multiple tumors unveils novel cancer-relevant splicing networks

(2016) Endre Sebestyén et al.   GENOME RESEARCH

Rational Design of Cyclic Peptide Inhibitors of U2AF Homology Motif (UHM) Domains To Modulate Pre-mRNA Splicing

(2016) Pravin Kumar Ankush Jagtap et al.   JOURNAL OF MEDICINAL CHEMISTRY

Incorporation of molecular data into the Revised International Prognostic Scoring System in treated patients with myelodysplastic syndromes

(2016) A Nazha et al.   LEUKEMIA

Resistance to imatinib in patients with chronic myelogenous leukemia and the splice variant BCR-ABL1 35INS

(2016) Ellin Berman et al.   LEUKEMIA RESEARCH

U2AF35(S34F) Promotes Transformation by Directing Aberrant ATG7 Pre-mRNA 3′ End Formation

(2016) Sung Mi Park et al.   MOLECULAR CELL

Molecular Architecture of SF3b and Structural Consequences of Its Cancer-Related Mutations

(2016) Constantin Cretu et al.   MOLECULAR CELL

Modulation of splicing catalysis for therapeutic targeting of leukemia with mutations in genes encoding spliceosomal proteins

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

Therapeutic targeting of splicing in cancer

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

Uveal Melanomas with SF3B1 Mutations

(2016) Serdar Yavuzyigitoglu et al.   OPHTHALMOLOGY

Tumor suppressor properties of the splicing regulatory factor RBM10

(2016) Jordi Hernández et al.   RNA Biology

Molecular architecture of the Saccharomyces cerevisiae activated spliceosome

(2016) R. Rauhut et al.   SCIENCE

The Spliceosome: The Ultimate RNA Chaperone and Sculptor

(2016) Panagiotis Papasaikas et al.   TRENDS IN BIOCHEMICAL SCIENCES

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

(2016) Samar Alsafadi et al.   Nature Communications

Genomic Landscape Survey Identifies SRSF1 as a Key Oncodriver in Small Cell Lung Cancer

(2016) Liyan Jiang et al.   PLoS Genetics

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

(2015) L. Malcovati et al.   BLOOD

The prognostic impact of mutations in spliceosomal genes for myelodysplastic syndrome patients without ring sideroblasts

(2015) Min-Gu Kang et al.   BMC CANCER

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

Splicing and Dicing MYC-Mediated Synthetic Lethality

(2015) Zachary E. Stine et al.   CANCER CELL

Targeting the spliceosome in chronic lymphocytic leukemia with the macrolides FD-895 and pladienolide-B

(2015) M. K. Kashyap et al.   HAEMATOLOGICA

Targeting the Δ133p53 isoform can restore chemosensitivity in 5-fluorouracil-resistant cholangiocarcinoma cells

(2015) NICHAPAVEE NUTTHASIRIKUL et al.   INTERNATIONAL JOURNAL OF ONCOLOGY

The Natural ProductN-Palmitoyl-l-leucine Selectively Inhibits Late Assembly of Human Spliceosomes

(2015) Kerstin A. Effenberger et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

SRSF2 Is Essential for Hematopoiesis, and Its Myelodysplastic Syndrome-Related Mutations Dysregulate Alternative Pre-mRNA Splicing

(2015) Yukiko Komeno et al.   MOLECULAR AND CELLULAR BIOLOGY

NF- B2/p52:c-Myc:hnRNPA1 Pathway Regulates Expression of Androgen Receptor Splice Variants and Enzalutamide Sensitivity in Prostate Cancer

(2015) N. Nadiminty et al.   MOLECULAR CANCER THERAPEUTICS

SRSF1-Regulated Alternative Splicing in Breast Cancer

(2015) Olga Anczuków et al.   MOLECULAR CELL

The spliceosome is a therapeutic vulnerability in MYC-driven cancer

(2015) Tiffany Y.-T. Hsu et al.   NATURE

MYC regulates the core pre-mRNA splicing machinery as an essential step in lymphomagenesis

(2015) Cheryl M. Koh et al.   NATURE

A selective inhibitor of PRMT5 with in vivo and in vitro potency in MCL models

(2015) Elayne Chan-Penebre et al.   Nature Chemical Biology

Intron retention is a widespread mechanism of tumor-suppressor inactivation

(2015) Hyunchul Jung et al.   NATURE GENETICS

Aberrant RNA splicing in cancer; expression changes and driver mutations of splicing factor genes

(2015) A Sveen et al.   ONCOGENE

Disease-associated mutation inSRSF2misregulates splicing by altering RNA-binding affinities

(2015) Jian Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Structure of a yeast spliceosome at 3.6-angstrom resolution

(2015) Chuangye Yan et al.   SCIENCE

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

Aberrant splicing of U12-type introns is the hallmark of ZRSR2 mutant myelodysplastic syndrome

(2015) Vikas Madan et al.   Nature Communications

Inhibition of vemurafenib-resistant melanoma by interference with pre-mRNA splicing

(2015) Maayan Salton et al.   Nature Communications

Activation of MET via Diverse Exon 14 Splicing Alterations Occurs in Multiple Tumor Types and Confers Clinical Sensitivity to MET Inhibitors

(2015) G. M. Frampton et al.   Cancer Discovery

Convergence of Acquired Mutations and Alternative Splicing of CD19 Enables Resistance to CART-19 Immunotherapy

(2015) E. Sotillo et al.   Cancer Discovery

Genotoxic stress inhibits Ewing sarcoma cell growth by modulating alternative pre-mRNA processing of the RNA helicase DHX9

(2015) Marco Fidaleo et al.   Oncotarget

The splicing modulator sudemycin induces a specific antitumor response and cooperates with ibrutinib in chronic lymphocytic leukemia

(2015) Sílvia Xargay-Torrent et al.   Oncotarget

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

Cross-talk between PRMT1-mediated methylation and ubiquitylation on RBM15 controls RNA splicing

(2015) Li Zhang et al.   eLife

Targeting the spliceosome in chronic lymphocytic leukemia with the macrolides FD-895 and pladienolide-B

(2015) M. K. Kashyap et al.   HAEMATOLOGICA

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

(2014) C. Wang et al.   BLOOD

Synonymous Mutations Frequently Act as Driver Mutations in Human Cancers

(2014) Fran Supek et al.   CELL

CD20 alternative splicing isoform generates immunogenic CD4 helper T epitopes

(2014) Charline Vauchy et al.   INTERNATIONAL JOURNAL OF CANCER

Lineage-specific splicing of a brain-enriched alternative exon promotes glioblastoma progression

(2014) Roberto Ferrarese et al.   JOURNAL OF CLINICAL INVESTIGATION

Splicing factor 3b subunit 1 (Sf3b1) haploinsufficient mice display features of low risk Myelodysplastic syndromes with ring sideroblasts

(2014) Valeria Visconte et al.   Journal of Hematology & Oncology

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

(2014) M Matsunawa et al.   LEUKEMIA

PRPF8 defects cause missplicing in myeloid malignancies

(2014) A Kurtovic-Kozaric et al.   LEUKEMIA

Context-dependent control of alternative splicing by RNA-binding proteins

(2014) Xiang-Dong Fu et al.   NATURE REVIEWS GENETICS

AR-V7 and Resistance to Enzalutamide and Abiraterone in Prostate Cancer

(2014) Emmanuel S. Antonarakis et al.   NEW ENGLAND JOURNAL OF MEDICINE

Novel regulatory principles of the spliceosomal Brr2 RNA helicase and links to retinal disease in humans

(2014) Sina Mozaffari-Jovin et al.   RNA Biology

Single-cell RNA-seq highlights intratumoral heterogeneity in primary glioblastoma

(2014) A. P. Patel et al.   SCIENCE

Pre-mRNA Splicing-Modulatory Pharmacophores: The Total Synthesis of Herboxidiene, a Pladienolide–Herboxidiene Hybrid Analog and Related Derivatives

(2013) Chandraiah Lagisetti et al.   ACS Chemical Biology

Chemical Perturbation of Mcl-1 Pre-mRNA Splicing to Induce Apoptosis in Cancer Cells

(2013) Yang Gao et al.   ACS Chemical Biology

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

Chemical suppression of an oncogenic splicing variant of AIMP2 induces tumour regression

(2013) Hee Sook Lee et al.   BIOCHEMICAL JOURNAL

Identification of quinones as HER2 inhibitors for the treatment of trastuzumab resistant breast cancer

(2013) Jayalakshmi Sridhar et al.   BIOORGANIC & MEDICINAL CHEMISTRY LETTERS

Phase I Pharmacokinetic and Pharmacodynamic Study of the First-in-Class Spliceosome Inhibitor E7107 in Patients with Advanced Solid Tumors

(2013) F. A. L. M. Eskens et al.   CLINICAL CANCER RESEARCH

Alternative splicing and retinal degeneration

(2013) M M Liu et al.   CLINICAL GENETICS

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

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

A phase I, open-label, single-arm, dose-escalation study of E7107, a precursor messenger ribonucleic acid (pre-mRNA) splicesome inhibitor administered intravenously on days 1 and 8 every 21 days to patients with solid tumors

(2013) D. S. Hong et al.   INVESTIGATIONAL NEW DRUGS

Impact of molecular mutations on treatment response to DNMT inhibitors in myelodysplasia and related neoplasms

(2013) F Traina 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

Mutations and prognosis in primary myelofibrosis

(2013) A M Vannucchi et al.   LEUKEMIA

RBM5, 6, and 10 Differentially Regulate NUMB Alternative Splicing to Control Cancer Cell Proliferation

(2013) Elias G. Bechara et al.   MOLECULAR CELL

Competition between Pre-mRNAs for the Splicing Machinery Drives Global Regulation of Splicing

(2013) Elizabeth M. Munding et al.   MOLECULAR CELL

Mutational landscape and significance across 12 major cancer types

(2013) Cyriac Kandoth et al.   NATURE

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

(2013) J William Harbour et al.   NATURE GENETICS

Hallmarks of alternative splicing in cancer

(2013) S Oltean et al.   ONCOGENE

MADD Knock-Down Enhances Doxorubicin and TRAIL Induced Apoptosis in Breast Cancer Cells

(2013) Andrea Turner et al.   PLoS One

SF3B1 Mutations Are Associated with Alternative Splicing in Uveal Melanoma

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

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

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

Cancer Vulnerabilities Unveiled by Genomic Loss

(2012) Deepak Nijhawan et al.   CELL

Mapping the Hallmarks of Lung Adenocarcinoma with Massively Parallel Sequencing

(2012) Marcin Imielinski et al.   CELL

The development and application of small molecule modulators of SF3b as therapeutic agents for cancer

(2012) Thomas R. Webb et al.   DRUG DISCOVERY TODAY

BaxΔ2 Is a Novel Bax Isoform Unique to Microsatellite Unstable Tumors

(2012) Bonnie Haferkamp et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Clinical importance of SF3B1 mutations in Chinese with myelodysplastic syndromes with ring sideroblasts

(2012) Rui Cui et al.   LEUKEMIA RESEARCH

The spliceosome as a target of novel antitumour drugs

(2012) Sophie Bonnal et al.   NATURE REVIEWS DRUG DISCOVERY

Gemcitabine triggers a pro-survival response in pancreatic cancer cells through activation of the MNK2/eIF4E pathway

(2012) L Adesso et al.   ONCOGENE

Splicing variant of AIMP2 as an effective target against chemoresistant ovarian cancer

(2012) Jin Woo Choi et al.   Journal of Molecular Cell Biology

Oncogenic Splicing Factor SRSF1 Is a Critical Transcriptional Target of MYC

(2012) Shipra Das et al.   Cell Reports

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

(2011) L. Malcovati et al.   BLOOD

WT1 Mutants Reveal SRPK1 to Be a Downstream Angiogenesis Target by Altering VEGF Splicing

(2011) Elianna M. Amin et al.   CANCER CELL

Hallmarks of Cancer: The Next Generation

(2011) Douglas Hanahan et al.   CELL

Silencing Survivin Splice Variant 2B Leads to Antitumor Activity in Taxane-Resistant Ovarian Cancer

(2011) P. E. Vivas-Mejia et al.   CLINICAL CANCER RESEARCH

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

(2011) Akira Yokoi et al.   FEBS Journal

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

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

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

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

(2011) T L Lasho 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

SomaticSF3B1Mutation in Myelodysplasia with Ring Sideroblasts

(2011) E. Papaemmanuil 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

A Short Caspase-3 Isoform Inhibits Chemotherapy-Induced Apoptosis by Blocking Apoptosome Assembly

(2011) Frédérique Végran et al.   PLoS One

The U2AF35-related protein Urp contacts the 3' splice site to promote U12-type intron splicing and the second step of U2-type intron splicing

(2010) H. Shen et al.   GENES & DEVELOPMENT

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

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

Anti-tumor activity of splice-switching oligonucleotides

(2010) John A. Bauman et al.   NUCLEIC ACIDS RESEARCH

Aberrant splicing of folylpolyglutamate synthetase as a novel mechanism of antifolate resistance in leukemia

(2009) M. Stark et al.   BLOOD

EGFRvIII and DNA Double-Strand Break Repair: A Molecular Mechanism for Radioresistance in Glioblastoma

(2009) B. Mukherjee et al.   CANCER RESEARCH

The Spliceosome: Design Principles of a Dynamic RNP Machine

(2009) Markus C. Wahl et al.   CELL

MCL-1ES, a novel variant of MCL-1, associates with MCL-1L and induces mitochondrial cell death

(2009) Jae-Hong Kim et al.   FEBS LETTERS

Expression of ER-α36, a Novel Variant of Estrogen Receptor α, and Resistance to Tamoxifen Treatment in Breast Cancer

(2009) Liang Shi et al.   JOURNAL OF CLINICAL ONCOLOGY

An oncogenic isoform of HER2 associated with locally disseminated breast cancer and trastuzumab resistance

(2009) D. Mitra et al.   MOLECULAR CANCER THERAPEUTICS

Antisense Masking of an hnRNP A1/A2 Intronic Splicing Silencer Corrects SMN2 Splicing in Transgenic Mice

(2008) Yimin Hua et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Expression of spliced oncogenic Ikaros isoforms in Philadelphia-positive acute lymphoblastic leukemia patients treated with tyrosine kinase inhibitors: implications for a new mechanism of resistance

(2008) I. Iacobucci et al.   BLOOD

Cyclin D1b Is Aberrantly Regulated in Response to Therapeutic Challenge and Promotes Resistance to Estrogen Antagonists

(2008) Y. Wang et al.   CANCER RESEARCH

Role of IG20 Splice Variants in TRAIL Resistance

(2008) B. S. Prabhakar et al.   CLINICAL CANCER RESEARCH

Alternative isoform regulation in human tissue transcriptomes

(2008) Eric T. Wang et al.   NATURE

The M2 splice isoform of pyruvate kinase is important for cancer metabolism and tumour growth

(2008) Heather R. Christofk et al.   NATURE

The splicing-factor oncoprotein SF2/ASF activates mTORC1

(2008) R. Karni et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA