Alternative splicing as a regulator of development and tissue identity

EMT and stemness: flexible processes tuned by alternative splicing in development and cancer progression

(2017) Davide Pradella et al.   Molecular Cancer

A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank–Starling mechanism

(2016) Abdelaziz Beqqali et al.   CARDIOVASCULAR RESEARCH

Cell-Type-Specific Alternative Splicing Governs Cell Fate in the Developing Cerebral Cortex

(2016) Xiaochang Zhang et al.   CELL

RNA Splicing

(2016) Maarten M.G. van den Hoogenhof et al.   CIRCULATION RESEARCH

Repression of Pumilio Protein Expression by Rbfox1 Promotes Germ Cell Differentiation

(2016) Arnaldo Carreira-Rosario et al.   DEVELOPMENTAL CELL

Defective control of pre–messenger RNA splicing in human disease

(2016) Benoit Chabot et al.   JOURNAL OF CELL BIOLOGY

Tau Isoforms Imbalance Impairs the Axonal Transport of the Amyloid Precursor Protein in Human Neurons

(2016) Valentina Lacovich et al.   JOURNAL OF NEUROSCIENCE

The neurogenetics of alternative splicing

(2016) Celine K. Vuong et al.   NATURE REVIEWS NEUROSCIENCE

Cytoplasmic Rbfox1 Regulates the Expression of Synaptic and Autism-Related Genes

(2016) Ji-Ann Lee et al.   NEURON

The alternative splicing program of differentiated smooth muscle cells involves concerted non-productive splicing of post-transcriptional regulators

(2016) Miriam Llorian et al.   NUCLEIC ACIDS RESEARCH

Global intron retention mediated gene regulation during CD4+T cell activation

(2016) Ting Ni et al.   NUCLEIC ACIDS RESEARCH

MRG15 is required for pre-mRNA splicing and spermatogenesis

(2016) Naoki Iwamori et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Position-dependent activity of CELF2 in the regulation of splicing and implications for signal-responsive regulation in T cells

(2016) Sandya Ajith et al.   RNA Biology

Control of neuronal synapse specification by a highly dedicated alternative splicing program

(2016) L. Traunmuller et al.   SCIENCE

Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy

(2016) Fernande Freyermuth et al.   Nature Communications

Alternative Splicing of Four Trafficking Genes Regulates Myofiber Structure and Skeletal Muscle Physiology

(2016) Jimena Giudice et al.   Cell Reports

Alternative Splicing of G9a Regulates Neuronal Differentiation

(2016) Ana Fiszbein et al.   Cell Reports

Developmental insights into the pathology of and therapeutic strategies for DM1: Back to the basics

(2015) Anthony Chau et al.   DEVELOPMENTAL DYNAMICS

Essential roles for the splicing regulator nSR100/SRRM4 during nervous system development

(2015) Mathieu Quesnel-Vallières et al.   GENES & DEVELOPMENT

Widespread JNK-dependent alternative splicing induces a positive feedback loop through CELF2-mediated regulation of MKK7 during T-cell activation

(2015) Nicole M. Martinez et al.   GENES & DEVELOPMENT

ALS mutations in TLS/FUS disrupt target gene expression

(2015) Tristan H. Coady et al.   GENES & DEVELOPMENT

Antagonistic regulation of mRNA expression and splicing by CELF and MBNL proteins

(2015) Eric T. Wang et al.   GENOME RESEARCH

The Role of Alternative Splicing in the Control of Immune Homeostasis and Cellular Differentiation

(2015) Mehmet Yabas et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Rbfox proteins regulate tissue-specific alternative splicing of Mef2D required for muscle differentiation

(2015) V. Runfola et al.   JOURNAL OF CELL SCIENCE

RBFox1-mediated RNA splicing regulates cardiac hypertrophy and heart failure

(2015) Chen Gao et al.   JOURNAL OF CLINICAL INVESTIGATION

RNA Binding Protein Ptbp2 Is Essential for Male Germ Cell Development

(2015) Leah L. Zagore et al.   MOLECULAR AND CELLULAR BIOLOGY

A Specific LSD1/KDM1A Isoform Regulates Neuronal Differentiation through H3K9 Demethylation

(2015) Benoit Laurent et al.   MOLECULAR CELL

HIF-driven SF3B1 induces KHK-C to enforce fructolysis and heart disease

(2015) Peter Mirtschink et al.   NATURE

RNA mis-splicing in disease

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

Alternative Splicing in the Mammalian Nervous System: Recent Insights into Mechanisms and Functional Roles

(2015) Bushra Raj et al.   NEURON

TDP-43 Proteinopathy and ALS: Insights into Disease Mechanisms and Therapeutic Targets

(2015) Emma L. Scotter et al.   Neurotherapeutics

A dynamic intron retention program enriched in RNA processing genes regulates gene expression during terminal erythropoiesis

(2015) Harold Pimentel et al.   NUCLEIC ACIDS RESEARCH

Alternative splicing regulates the expression of G9A and SUV39H2 methyltransferases, and dramatically changes SUV39H2 functions

(2015) Oriane Mauger et al.   NUCLEIC ACIDS RESEARCH

TRAP150 interacts with the RNA-binding domain of PSF and antagonizes splicing of numerous PSF-target genes in T cells

(2015) Christopher A. Yarosh et al.   NUCLEIC ACIDS RESEARCH

TDP-43 affects splicing profiles and isoform production of genes involved in the apoptotic and mitotic cellular pathways

(2015) Laura De Conti et al.   NUCLEIC ACIDS RESEARCH

Induced transcription and stability of CELF2 mRNA drives widespread alternative splicing during T-cell signaling

(2015) Michael J. Mallory et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Systematic discovery of regulated and conserved alternative exons in the mammalian brain reveals NMD modulating chromatin regulators

(2015) Qinghong Yan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Global analysis of physical and functional RNA targets of hnRNP L reveals distinct sequence and epigenetic features of repressed and enhanced exons

(2015) Brian S. Cole et al.   RNA

TDP-43 repression of nonconserved cryptic exons is compromised in ALS-FTD

(2015) J. P. Ling et al.   SCIENCE

The alternative splicing factor Nova2 regulates vascular development and lumen formation

(2015) Costanza Giampietro et al.   Nature Communications

ESRP2 controls an adult splicing programme in hepatocytes to support postnatal liver maturation

(2015) Amruta Bhate et al.   Nature Communications

ALS-causative mutations in FUS/TLS confer gain and loss of function by altered association with SMN and U1-snRNP

(2015) Shuying Sun et al.   Nature Communications

MBNL Sequestration by Toxic RNAs and RNA Misprocessing in the Myotonic Dystrophy Brain

(2015) Marianne Goodwin et al.   Cell Reports

Post-transcriptional regulation in corticogenesis: how RNA-binding proteins help build the brain

(2015) Louis-Jan Pilaz et al.   Wiley Interdisciplinary Reviews-RNA

Muscleblind-like 1 (Mbnl1) regulates pre-mRNA alternative splicing during terminal erythropoiesis

(2014) A. W. Cheng et al.   BLOOD

A Highly Conserved Program of Neuronal Microexons Is Misregulated in Autistic Brains

(2014) Manuel Irimia et al.   CELL

Atlas of the clinical genetics of human dilated cardiomyopathy

(2014) Jan Haas et al.   EUROPEAN HEART JOURNAL

Rbm20-deficient cardiogenesis reveals early disruption of RNA processing and sarcomere remodeling establishing a developmental etiology for dilated cardiomyopathy

(2014) Rosanna Beraldi et al.   HUMAN MOLECULAR GENETICS

Translational control in germline stem cell development

(2014) Maija Slaidina et al.   JOURNAL OF CELL BIOLOGY

Splicing regulator SLU7 is essential for maintaining liver homeostasis

(2014) María Elizalde et al.   JOURNAL OF CLINICAL INVESTIGATION

RNA-binding protein RBM20 represses splicing to orchestrate cardiac pre-mRNA processing

(2014) Henrike Maatz et al.   JOURNAL OF CLINICAL INVESTIGATION

A Global Regulatory Mechanism for Activating an Exon Network Required for Neurogenesis

(2014) Bushra Raj et al.   MOLECULAR CELL

Rbfox2-Coordinated Alternative Splicing of Mef2d and Rock2 Controls Myoblast Fusion during Myogenesis

(2014) Ravi K. Singh et al.   MOLECULAR CELL

A draft map of the human proteome

(2014) Min-Sik Kim et al.   NATURE

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

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

A dynamic alternative splicing program regulates gene expression during terminal erythropoiesis

(2014) Harold Pimentel et al.   NUCLEIC ACIDS RESEARCH

Nova1 is a master regulator of alternative splicing in pancreatic beta cells

(2014) Olatz Villate et al.   NUCLEIC ACIDS RESEARCH

Alternative splicing regulates vesicular trafficking genes in cardiomyocytes during postnatal heart development

(2014) Jimena Giudice et al.   Nature Communications

HITS-CLIP and Integrative Modeling Define the Rbfox Splicing-Regulatory Network Linked to Brain Development and Autism

(2014) Sebastien M. Weyn-Vanhentenryck et al.   Cell Reports

Whole Exome Sequencing Identifies a Causal RBM20 Mutation in a Large Pedigree With Familial Dilated Cardiomyopathy

(2013) Quinn S. Wells et al.   Circulation-Cardiovascular Genetics

RNA Sequencing Identifies Dysregulation of the Human Pancreatic Islet Transcriptome by the Saturated Fatty Acid Palmitate

(2013) Miriam Cnop et al.   DIABETES

Stress granules in neurodegeneration - lessons learnt from TAR DNA binding protein of 43 kDa and fused in sarcoma

(2013) Eva Bentmann et al.   FEBS Journal

Tissue-specific splicing of a ubiquitously expressed transcription factor is essential for muscle differentiation

(2013) S. Sebastian et al.   GENES & DEVELOPMENT

DNA-methylation effect on cotranscriptional splicing is dependent on GC architecture of the exon-intron structure

(2013) S. Gelfman et al.   GENOME RESEARCH

Pathological mechanisms underlying TDP-43 driven neurodegeneration in FTLD-ALS spectrum disorders

(2013) J. Janssens et al.   HUMAN MOLECULAR GENETICS

Control of alternative splicing in immune responses: many regulators, many predictions, much still to learn

(2013) Nicole M. Martinez et al.   IMMUNOLOGICAL REVIEWS

RNA binding proteins in the regulation of heart development

(2013) Yotam Blech-Hermoni et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Rbfox3-regulated alternative splicing of Numb promotes neuronal differentiation during development

(2013) Kee K. Kim et al.   JOURNAL OF CELL BIOLOGY

Transcriptome-Wide RNA Interaction Profiling Reveals Physical and Functional Targets of hnRNP L in Human T Cells

(2013) G. Shankarling et al.   MOLECULAR AND CELLULAR BIOLOGY

mRNA expression, splicing and editing in the embryonic and adult mouse cerebral cortex

(2013) Allissa A Dillman et al.   NATURE NEUROSCIENCE

Alternative splicing: a pivotal step between eukaryotic transcription and translation

(2013) Alberto R. Kornblihtt et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

The splicing landscape is globally reprogrammed during male meiosis

(2013) Ralf Schmid et al.   NUCLEIC ACIDS RESEARCH

Rbm20 regulates titin alternative splicing as a splicing repressor

(2013) Shijun Li et al.   NUCLEIC ACIDS RESEARCH

Quaking and PTB control overlapping splicing regulatory networks during muscle cell differentiation

(2013) M. P. Hall et al.   RNA

The Alternative Heart: Impact of Alternative Splicing in Heart Disease

(2013) Enrique Lara-Pezzi et al.   Journal of Cardiovascular Translational Research

Splicing factor SRSF3 is crucial for hepatocyte differentiation and metabolic function

(2013) Supriya Sen et al.   Nature Communications

Cellular Source and Mechanisms of High Transcriptome Complexity in the Mammalian Testis

(2013) Magali Soumillon et al.   Cell Reports

RNA-binding proteins in microsatellite expansion disorders: Mediators of RNA toxicity

(2012) Gloria V. Echeverria et al.   BRAIN RESEARCH

Ptbp2 represses adult-specific splicing to regulate the generation of neuronal precursors in the embryonic brain

(2012) D. D. Licatalosi et al.   GENES & DEVELOPMENT

Autoregulation of TDP-43 mRNA levels involves interplay between transcription, splicing, and alternative polyA site selection

(2012) S. E. Avendano-Vazquez et al.   GENES & DEVELOPMENT

Deep sequencing of subcellular RNA fractions shows splicing to be predominantly co-transcriptional in the human genome but inefficient for lncRNAs

(2012) H. Tilgner et al.   GENOME RESEARCH

RBFOX1 regulates both splicing and transcriptional networks in human neuronal development

(2012) Brent L. Fogel et al.   HUMAN MOLECULAR GENETICS

Alternative Splicing Controlled by Heterogeneous Nuclear Ribonucleoprotein L Regulates Development, Proliferation, and Migration of Thymic Pre-T Cells

(2012) M.-C. Gaudreau et al.   JOURNAL OF IMMUNOLOGY

RBM4 Promotes Pancreas Cell Differentiation and Insulin Expression

(2012) J.-C. Lin et al.   MOLECULAR AND CELLULAR BIOLOGY

Tissue-Specific Alternative Splicing Remodels Protein-Protein Interaction Networks

(2012) Jonathan D. Ellis et al.   MOLECULAR CELL

Tissue-Specific Splicing of Disordered Segments that Embed Binding Motifs Rewires Protein Interaction Networks

(2012) Marija Buljan et al.   MOLECULAR CELL

RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing

(2012) Wei Guo et al.   NATURE MEDICINE

Muscleblind-like 2-Mediated Alternative Splicing in the Developing Brain and Dysregulation in Myotonic Dystrophy

(2012) Konstantinos Charizanis et al.   NEURON

DNA methylation dynamics, metabolic fluxes, gene splicing, and alternative phenotypes in honey bees

(2012) S. Foret et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Alternative splicing networks regulated by signaling in human T cells

(2012) N. M. Martinez et al.   RNA

Pre-mRNA splicing in disease and therapeutics

(2012) Ravi K. Singh et al.   TRENDS IN MOLECULAR MEDICINE

Differential GC Content between Exons and Introns Establishes Distinct Strategies of Splice-Site Recognition

(2012) Maayan Amit et al.   Cell Reports

The Human Pancreatic Islet Transcriptome: Expression of Candidate Genes for Type 1 Diabetes and the Impact of Pro-Inflammatory Cytokines

(2012) Décio L. Eizirik et al.   PLoS Genetics

Single-Molecule Imaging of Transcriptionally Coupled and Uncoupled Splicing

(2011) Diana Y. Vargas et al.   CELL

SAM68 Regulates Neuronal Activity-Dependent Alternative Splicing of Neurexin-1

(2011) Takatoshi Iijima et al.   CELL

Epigenetics in Alternative Pre-mRNA Splicing

(2011) Reini F. Luco et al.   CELL

Expression of the Splicing Factor Gene SFRS10 Is Reduced in Human Obesity and Contributes to Enhanced Lipogenesis

(2011) Jussi Pihlajamäki et al.   Cell Metabolism

Rbfox-regulated alternative splicing is critical for zebrafish cardiac and skeletal muscle functions

(2011) Thomas L. Gallagher et al.   DEVELOPMENTAL BIOLOGY

Changes in exon-intron structure during vertebrate evolution affect the splicing pattern of exons

(2011) S. Gelfman et al.   GENOME RESEARCH

Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy

(2011) Marwan M. Refaat et al.   HEART RHYTHM

The Giant Protein Titin: A Regulatory Node That Integrates Myocyte Signaling Pathways

(2011) Martina Krüger et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Cross-Regulation between an Alternative Splicing Activator and a Transcription Repressor Controls Neurogenesis

(2011) Bushra Raj et al.   MOLECULAR CELL

CTCF-promoted RNA polymerase II pausing links DNA methylation to splicing

(2011) Sanjeev Shukla et al.   NATURE

Transcriptomic analysis of autistic brain reveals convergent molecular pathology

(2011) Irina Voineagu et al.   NATURE

The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain

(2011) Lauren T Gehman et al.   NATURE GENETICS

Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy

(2011) Charlotte Fugier et al.   NATURE MEDICINE

Characterizing the RNA targets and position-dependent splicing regulation by TDP-43

(2011) James R Tollervey et al.   NATURE NEUROSCIENCE

Sam68 marks the transcriptionally active stages of spermatogenesis and modulates alternative splicing in male germ cells

(2011) Maria Paola Paronetto et al.   NUCLEIC ACIDS RESEARCH

Global impact of RNA polymerase II elongation inhibition on alternative splicing regulation

(2010) J. Y. Ip et al.   GENOME RESEARCH

Alternative Splicing of the Histone Demethylase LSD1/KDM1 Contributes to the Modulation of Neurite Morphogenesis in the Mammalian Nervous System

(2010) C. Zibetti et al.   JOURNAL OF NEUROSCIENCE

Deciphering the splicing code

(2010) Yoseph Barash et al.   NATURE

Nova2 Regulates Neuronal Migration through an RNA Switch in Disabled-1 Signaling

(2010) Masato Yano et al.   NEURON

Global regulation of alternative splicing during myogenic differentiation

(2010) Christopher S. Bland et al.   NUCLEIC ACIDS RESEARCH

Regulation of Alternative Splicing by Histone Modifications

(2010) R. F. Luco et al.   SCIENCE

The Honey Bee Epigenomes: Differential Methylation of Brain DNA in Queens and Workers

(2010) Frank Lyko et al.   PLOS BIOLOGY

Contrasting chromatin organization of CpG islands and exons in the human genome

(2010) Jung Kyoon Choi   GENOME BIOLOGY

Alternative pre-mRNA splicing switches modulate gene expression in late erythropoiesis

(2009) M. L. Yamamoto et al.   BLOOD

CTCF: Master Weaver of the Genome

(2009) Jennifer E. Phillips et al.   CELL

High definition profiling of mammalian DNA methylation by array capture and single molecule bisulfite sequencing

(2009) E. Hodges et al.   GENOME RESEARCH

Mutations in Ribonucleic Acid Binding Protein Gene Cause Familial Dilated Cardiomyopathy

(2009) Katharine M. Brauch et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

“Cotranscriptionality”: The Transcription Elongation Complex as a Nexus for Nuclear Transactions

(2009) Roberto Perales et al.   MOLECULAR CELL

Human DNA methylomes at base resolution show widespread epigenomic differences

(2009) Ryan Lister et al.   NATURE

Alternative Splicing in the Differentiation of Human Embryonic Stem Cells into Cardiac Precursors

(2009) Nathan Salomonis et al.   PLoS Computational Biology

An Abundance of Ubiquitously Expressed Genes Revealed by Tissue Transcriptome Sequence Data

(2009) Daniel Ramsköld et al.   PLoS Computational Biology

Alternative isoform regulation in human tissue transcriptomes

(2008) Eric T. Wang et al.   NATURE

Expression of 24,426 human alternative splicing events and predicted cis regulation in 48 tissues and cell lines

(2008) John C Castle et al.   NATURE GENETICS

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

(2008) Qun Pan et al.   NATURE GENETICS

A postnatal switch of CELF and MBNL proteins reprograms alternative splicing in the developing heart

(2008) A. Kalsotra et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Nutritional Control of Reproductive Status in Honeybees via DNA Methylation

(2008) R. Kucharski et al.   SCIENCE