CRISPR editing of sftb-1/SF3B1 in Caenorhabditis elegans allows the identification of synthetic interactions with cancer-related mutations and the chemical inhibition of splicing

Altered splicing and cytoplasmic levels of tRNA synthetases in SF3B1-mutant myelodysplastic syndromes as a therapeutic vulnerability

(2019) Fabio Giuseppe Liberante et al.   Scientific Reports

Efficient Generation of Endogenous Fluorescent Reporters by Nested CRISPR in Caenorhabditis elegans

(2019) Jeremy Vicencio et al.   GENETICS

A Murine Model of Chronic Lymphocytic Leukemia Based on B Cell-Restricted Expression of Sf3b1 Mutation and Atm Deletion

(2019) Shanye Yin et al.   CANCER CELL

The Caenorhabditis elegans Transgenic Toolbox

(2019) Jeremy Nance et al.   GENETICS

Therapeutic approaches to treat human spliceosomal diseases

(2019) Anthony B DeNicola et al.   CURRENT OPINION IN BIOTECHNOLOGY

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

(2018) Andrea Pellagatti et al.   BLOOD

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

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

Functional analysis of Hsh155/SF3b1 interactions with the U2 snRNA/branch site duplex

(2018) Tucker J. Carrocci et al.   RNA

Inhibition of SF3B1 by molecules targeting the spliceosome results in massive aberrant exon skipping

(2018) Gang Wu et al.   RNA

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

(2018) Michael Seiler et al.   Cell Reports

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

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

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

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

(2018) Yusuke Shiozawa et al.   Nature Communications

CRISPR-Cas9 human gene replacement and phenomic characterization in Caenorhabditis elegans to understand the functional conservation of human genes and decipher variants of uncertain significance

(2018) Troy A. McDiarmid et al.   Disease Models & Mechanisms

The pre-mRNA splicing and transcription factor Tat-SF1 is a functional partner of the spliceosome SF3b1 subunit via a U2AF homology motif interface

(2018) Sarah Loerch et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Degenerate minigene library analysis enables identification of altered branch point utilization by mutant splicing factor 3B1 (SF3B1)

(2018) Abhishek K Gupta et al.   NUCLEIC ACIDS RESEARCH

Modeling human RNA spliceosome mutations in the mouse: not all mice were created equal

(2018) Jane Jialu Xu et al.   EXPERIMENTAL HEMATOLOGY

Quantitative RNA-seq meta-analysis of alternative exon usage inC. elegans

(2017) Nicolas J. Tourasse et al.   GENOME RESEARCH

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

(2017) Teng Teng et al.   Nature Communications

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

Transcriptomic Characterization of SF3B1 Mutation Reveals Its Pleiotropic Effects in Chronic Lymphocytic Leukemia

(2016) Lili Wang 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

CRISPR-Based Methods for Caenorhabditis elegans Genome Engineering

(2016) D. J. Dickinson et al.   GENETICS

Hemopoietic-specific Sf3b1-K700E knock-in mice display the splicing defect seen in human MDS but develop anemia without ring sideroblasts

(2016) A Mupo et al.   LEUKEMIA

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

(2016) Constantin Cretu et al.   MOLECULAR CELL

COSMIC: somatic cancer genetics at high-resolution

(2016) Simon A. Forbes et al.   NUCLEIC ACIDS RESEARCH

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

(2016) Samar Alsafadi et al.   Nature Communications

Modulating splicing with small molecular inhibitors of the spliceosome

(2016) Kerstin A. Effenberger et al.   Wiley Interdisciplinary Reviews-RNA

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

(2015) L. Malcovati et al.   BLOOD

A Chemical Genetics Approach for the Functional Assessment of Novel Cancer Genes

(2015) Q. Zhou et al.   CANCER RESEARCH

Coordinated tissue-specific regulation of adjacent alternative 3′ splice sites inC. elegans

(2015) James Matthew Ragle et al.   GENOME RESEARCH

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

SF3B1 Association with Chromatin Determines Splicing Outcomes

(2015) Nir Kfir 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

CCTop: An Intuitive, Flexible and Reliable CRISPR/Cas9 Target Prediction Tool

(2015) Manuel Stemmer et al.   PLoS One

A Co-CRISPR Strategy for Efficient Genome Editing in Caenorhabditis elegans

(2014) Heesun Kim et al.   GENETICS

U2AF1mutations alter splice site recognition in hematological malignancies

(2014) Janine O. Ilagan et al.   GENOME RESEARCH

SF3B1mutations constitute a novel therapeutic target in breast cancer

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

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

The impact of SF3B1 mutations in CLL on the DNA-damage response

(2014) G D te Raa 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

Optimization of Antitumor Modulators of Pre-mRNA Splicing

(2013) Chandraiah Lagisetti et al.   JOURNAL OF MEDICINAL CHEMISTRY

Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3

(2013) Marcel Martin et al.   NATURE GENETICS

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

(2013) J William Harbour et al.   NATURE GENETICS

WormSizer: High-throughput Analysis of Nematode Size and Shape

(2013) Brad T. Moore et al.   PLoS One

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

Mapping the Hallmarks of Lung Adenocarcinoma with Massively Parallel Sequencing

(2012) Marcin Imielinski et al.   CELL

The zebrafish sf3b1b460mutant reveals differential requirements for the sf3b1 pre-mRNA processing gene during neural crest development

(2012) Min An et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL BIOLOGY

Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes

(2012) Andrew V. Biankin et al.   NATURE

The spliceosome as a target of novel antitumour drugs

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

Spliceosome Database: a tool for tracking components of the spliceosome

(2012) Ivan Cvitkovic et al.   NUCLEIC ACIDS RESEARCH

RSEM: accurate transcript quantification from RNA-Seq data with or without a reference genome

(2011) Bo Li et al.   BMC BIOINFORMATICS

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

(2011) Akira Yokoi et al.   FEBS Journal

Frequent pathway mutations of splicing machinery in myelodysplasia

(2011) Kenichi Yoshida et al.   NATURE

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

PRP-17 and the pre-mRNA splicing pathway are preferentially required for the proliferation versus meiotic development decision and germline sex determination inCaenorhabditis elegans

(2010) Jessica Amrozowicz Kerins et al.   DEVELOPMENTAL DYNAMICS

Jalview Version 2--a multiple sequence alignment editor and analysis workbench

(2009) A. M. Waterhouse et al.   BIOINFORMATICS

A mutation in teg-4, which encodes a protein homologous to the SAP130 pre-mRNA splicing factor, disrupts the balance between proliferation and differentiation in the C. elegans germ line

(2009) Pallavi Mantina et al.   MECHANISMS OF DEVELOPMENT

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

(2008) Qun Pan et al.   NATURE GENETICS