Two oppositely-charged sf3b1 mutations cause defective development, impaired immune response, and aberrant selection of intronic branch sites in Drosophila

Contribution of Intellectual Disability–Related Genes to ADHD Risk and to Locomotor Activity in Drosophila

(2020) Marieke Klein et al.   AMERICAN JOURNAL OF PSYCHIATRY

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

(2020) Stefanos A. Bamopoulos et al.   LEUKEMIA

Impact of cancer-associated mutations in Hsh155/SF3b1 HEAT repeats 9-12 on pre-mRNA splicing in Saccharomyces cerevisiae

(2020) Harpreet Kaur et al.   PLoS One

Mutations in the RNA Splicing Factor SF3B1 Promote Tumorigenesis through MYC Stabilization

(2020) Zhaoqi Liu et al.   Cancer Discovery

Targeted Next-Generation Sequencing of 117 Routine Clinical Samples Provides Further Insights into the Molecular Landscape of Uveal Melanoma

(2020) Sophie Thornton et al.   Cancers

Normal Ethanol Sensitivity and Rapid Tolerance Require the G Protein Receptor Kinase 2 in Ellipsoid Body Neurons in Drosophila

(2020) Yuan Yuan Kang et al.   ALCOHOLISM-CLINICAL AND EXPERIMENTAL RESEARCH

Molecular architecture of the human 17S U2 snRNP

(2020) Zhenwei Zhang et al.   NATURE

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

Mechanism of 5ʹ splice site transfer for human spliceosome activation

(2019) Clément Charenton et al.   SCIENCE

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

(2019) Jian Zhang et al.   MOLECULAR CELL

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

(2019) Xènia Serrat et al.   PLoS Genetics

Structure of the human activated spliceosome in three conformational states

(2018) Xiaofeng Zhang et al.   CELL 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

Structures of the fully assembledSaccharomyces cerevisiaespliceosome before activation

(2018) Rui Bai et al.   SCIENCE

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

(2018) Michael Seiler et al.   Cell Reports

Prognostic value and clinical feature of SF3B1 mutations in myelodysplastic syndromes: A meta-analysis

(2018) Yaqiong Tang et al.   CRITICAL REVIEWS IN ONCOLOGY HEMATOLOGY

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

Mechanistic insights into precursor messenger RNA splicing by the spliceosome

(2017) Yigong Shi   NATURE REVIEWS MOLECULAR CELL BIOLOGY

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

Spliceosomal component Sf3b1 is essential for hematopoietic differentiation in zebrafish

(2016) Adriana De La Garza et al.   EXPERIMENTAL HEMATOLOGY

SF3B1/Hsh155 HEAT motif mutations affect interaction with the spliceosomal ATPase Prp5, resulting in altered branch site selectivity in pre-mRNA splicing

(2016) Qing Tang et al.   GENES & DEVELOPMENT

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

Cancer-associated SF3B1 mutants recognize otherwise inaccessible cryptic 3′ splice sites within RNA secondary structures

(2016) A K Kesarwani et al.   ONCOGENE

Splicing-factor alterations in cancers

(2016) Olga Anczuków et al.   RNA

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

(2016) Samar Alsafadi et al.   Nature Communications

Mutations driving CLL and their evolution in progression and relapse

(2015) Dan A. Landau et al.   NATURE

HISAT: a fast spliced aligner with low memory requirements

(2015) Daehwan Kim et al.   NATURE METHODS

RNA mis-splicing in disease

(2015) Marina M. Scotti et al.   NATURE REVIEWS GENETICS

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

(2015) A Sveen et al.   ONCOGENE

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

HTSeq--a Python framework to work with high-throughput sequencing data

(2014) S. Anders et al.   BIOINFORMATICS

The effect of neurospecific knockdown of candidate genes for locomotor behavior and sound production inDrosophila melanogaster

(2014) Sergey A Fedotov et al.   FLY

Positive and negative gustatory inputs affect Drosophila lifespan partly in parallel to dFOXO signaling

(2014) I. Ostojic et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Skeletal muscle myogenesis is regulated by G protein-coupled receptor kinase 2

(2014) Lucia Garcia-Guerra et al.   Journal of Molecular Cell Biology

Splicing factor mutations and cancer

(2014) Kenichi Yoshida et al.   Wiley Interdisciplinary Reviews-RNA

Clinical and biological implications of driver mutations in myelodysplastic syndromes

(2013) E. Papaemmanuil et al.   BLOOD

Landscape of genetic lesions in 944 patients with myelodysplastic syndromes

(2013) T Haferlach et al.   LEUKEMIA

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

SF3B1 Mutations Are Associated with Alternative Splicing in Uveal Melanoma

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

Misregulation of Pre-mRNA Alternative Splicing in Cancer

(2013) J. Zhang et al.   Cancer Discovery

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

(2012) M. Meggendorfer et al.   BLOOD

Mapping the Hallmarks of Lung Adenocarcinoma with Massively Parallel Sequencing

(2012) Marcin Imielinski et al.   CELL

The conserved transcription factor Mef2 has multiple roles in adult Drosophila musculature formation

(2012) C. Soler et al.   DEVELOPMENT

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

The landscape of cancer genes and mutational processes in breast cancer

(2012) Philip J. Stephens et al.   NATURE

Whole-genome analysis informs breast cancer response to aromatase inhibition

(2012) Matthew J. Ellis et al.   NATURE

Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes

(2012) Andrew V. Biankin et al.   NATURE

A GAL4-Driver Line Resource for Drosophila Neurobiology

(2012) Arnim Jenett et al.   Cell Reports

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

(2011) L. Malcovati et al.   BLOOD

Mechanical analysis of Drosophila indirect flight and jump muscles

(2011) Douglas M. Swank   METHODS

A U1-U2 snRNP Interaction Network during Intron Definition

(2011) W. Shao et al.   MOLECULAR AND CELLULAR BIOLOGY

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

Systematic genetic analysis of muscle morphogenesis and function in Drosophila

(2010) Frank Schnorrer et al.   NATURE

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

(2010) R. M. Lardelli et al.   RNA

Molecular Evolution and Functional Characterization of Drosophila Insulin-Like Peptides

(2010) Sebastian Grönke et al.   PLoS Genetics

Regulation of cytochrome P450 expression in Drosophila: Genomic insights

(2009) Maeva Giraudo et al.   PESTICIDE BIOCHEMISTRY AND PHYSIOLOGY