Functional roles of alternative splicing factors in human disease

RNA–protein interactions in unstable microsatellite diseases

(2014) Apoorva Mohan et al.   BRAIN RESEARCH

RBM24 Is a Major Regulator of Muscle-Specific Alternative Splicing

(2014) Jiwen Yang et al.   DEVELOPMENTAL CELL

Cell type-restricted activity of hnRNPM promotes breast cancer metastasis via regulating alternative splicing

(2014) Y. Xu et al.   GENES & DEVELOPMENT

ALS-associated mutation FUS-R521C causes DNA damage and RNA splicing defects

(2014) Haiyan Qiu 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

Partial loss of TDP-43 function causes phenotypes of amyotrophic lateral sclerosis

(2014) C. Yang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The alternative splicing side of cancer

(2014) Giuseppe Biamonti et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

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

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

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

Loss of the multifunctional RNA-binding protein RBM47 as a source of selectable metastatic traits in breast cancer

(2014) Sakari Vanharanta et al.   eLife

The genetic basis of myelodysplasia and its clinical relevance

(2013) M. Cazzola et al.   BLOOD

Titin Is a Major Human Disease Gene

(2013) Martin M. LeWinter et al.   CIRCULATION

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

Exo70 Isoform Switching upon Epithelial-Mesenchymal Transition Mediates Cancer Cell Invasion

(2013) Hezhe Lu et al.   DEVELOPMENTAL CELL

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

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

Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome

(2013) Randi Hagerman et al.   LANCET NEUROLOGY

iCLIP: Protein–RNA interactions at nucleotide resolution

(2013) Ina Huppertz et al.   METHODS

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

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

Cancer: The to and fro of tumour spread

(2013) Bryce J. W. van Denderen et al.   NATURE

Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS

(2013) Peter E.A. Ash et al.   NEURON

Rbm20 regulates titin alternative splicing as a splicing repressor

(2013) Shijun Li et al.   NUCLEIC ACIDS RESEARCH

The RNA-binding protein Rbfox2: an essential regulator of EMT-driven alternative splicing and a mediator of cellular invasion

(2013) C Braeutigam et al.   ONCOGENE

Hallmarks of alternative splicing in cancer

(2013) S Oltean et al.   ONCOGENE

RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia

(2013) T. Zu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43

(2013) E. S. Arnold et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Misregulation of Pre-mRNA Alternative Splicing in Cancer

(2013) J. Zhang et al.   Cancer Discovery

Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic

(2013) Youn-Bok Lee et al.   Cell Reports

Alternative RNA splicing and cancer

(2013) Sali Liu et al.   Wiley Interdisciplinary Reviews-RNA

Metastatic Colonization Requires the Repression of the Epithelial-Mesenchymal Transition Inducer Prrx1

(2012) Oscar H. Ocaña et al.   CANCER CELL

Spatiotemporal Regulation of Epithelial-Mesenchymal Transition Is Essential for Squamous Cell Carcinoma Metastasis

(2012) Jeff H. Tsai et al.   CANCER CELL

Making alternative splicing decisions during epithelial-to-mesenchymal transition (EMT)

(2012) Giuseppe Biamonti et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Function of alternative splicing

(2012) Olga Kelemen et al.   GENE

RBFOX1 regulates both splicing and transcriptional networks in human neuronal development

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

Genome-Wide Determination of a Broad ESRP-Regulated Posttranscriptional Network by High-Throughput Sequencing

(2012) K. A. Dittmar et al.   MOLECULAR AND CELLULAR BIOLOGY

RBFOX2 Is an Important Regulator of Mesenchymal Tissue-Specific Splicing in both Normal and Cancer Tissues

(2012) J. P. Venables et al.   MOLECULAR AND CELLULAR BIOLOGY

RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing

(2012) Wei Guo et al.   NATURE MEDICINE

Divergent roles of ALS-linked proteins FUS/TLS and TDP-43 intersect in processing long pre-mRNAs

(2012) Clotilde Lagier-Tourenne et al.   NATURE NEUROSCIENCE

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

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

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

(2012) Konstantinos Charizanis et al.   NEURON

Complex changes in alternative pre-mRNA splicing play a central role in the epithelial-to-mesenchymal transition (EMT)

(2012) Claude C. Warzecha et al.   SEMINARS IN CANCER BIOLOGY

EMT as the ultimate survival mechanism of cancer cells

(2012) Neha Tiwari et al.   SEMINARS IN CANCER BIOLOGY

Cancer stem cells and epithelial–mesenchymal transition: Concepts and molecular links

(2012) Christina Scheel et al.   SEMINARS IN CANCER BIOLOGY

New connections between splicing and human disease

(2012) Richard A. Padgett   TRENDS IN GENETICS

Pre-mRNA splicing in disease and therapeutics

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

The Ins and Outs of the Epithelial to Mesenchymal Transition in Health and Disease

(2011) M. Angela Nieto   Annual Review of Cell and Developmental Biology

Understanding the role of TDP-43 and FUS/TLS in ALS and beyond

(2011) Sandrine Da Cruz et al.   CURRENT OPINION IN NEUROBIOLOGY

CD44 splice isoform switching in human and mouse epithelium is essential for epithelial-mesenchymal transition and breast cancer progression

(2011) Rhonda L. Brown et al.   JOURNAL OF CLINICAL INVESTIGATION

Amyotrophic lateral sclerosis

(2011) Matthew C Kiernan et al.   LANCET

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

Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43

(2011) Magdalini Polymenidou et al.   NATURE NEUROSCIENCE

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

(2011) James R Tollervey et al.   NATURE NEUROSCIENCE

Functional consequences of developmentally regulated alternative splicing

(2011) Auinash Kalsotra et al.   NATURE REVIEWS GENETICS

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

(2011) Alan E. Renton et al.   NEURON

Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNA

(2011) P. Edery et al.   SCIENCE

An EMT–Driven Alternative Splicing Program Occurs in Human Breast Cancer and Modulates Cellular Phenotype

(2011) Irina M. Shapiro et al.   PLoS Genetics

Identification of RNA-protein interaction networks using PAR-CLIP

(2011) Manuel Ascano et al.   Wiley Interdisciplinary Reviews-RNA

Identification of Novel Mutations in RBM20 in Patients with Dilated Cardiomyopathy

(2010) Duanxiang Li et al.   CTS-Clinical and Translational Science

An ESRP-regulated splicing programme is abrogated during the epithelial–mesenchymal transition

(2010) Claude C Warzecha et al.   EMBO JOURNAL

Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients

(2010) Chantal Sellier et al.   EMBO JOURNAL

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

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

MicroRNAs coordinate an alternative splicing network during mouse postnatal heart development

(2010) A. Kalsotra et al.   GENES & DEVELOPMENT

CUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1

(2010) Amanda J. Ward et al.   HUMAN MOLECULAR GENETICS

Sam68 regulates EMT through alternative splicing–activated nonsense-mediated mRNA decay of the SF2/ASF proto-oncogene

(2010) Cristina Valacca et al.   JOURNAL OF CELL BIOLOGY

Mammary Gland Studies as Important Contributors to the Cause of Epithelial Mesenchymal Plasticity in Malignancy

(2010) H. L. Ford et al.   JOURNAL OF MAMMARY GLAND BIOLOGY AND NEOPLASIA

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

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

Exon-Level Microarray Analyses Identify Alternative Splicing Programs in Breast Cancer

(2010) A. Lapuk et al.   MOLECULAR CANCER RESEARCH

The epithelial splicing factors ESRP1 and ESRP2 positively and negatively regulate diverse types of alternative splicing events

(2010) Claude C. Warzecha et al.   RNA Biology

Developments in RNA Splicing and Disease

(2010) M. G. Poulos et al.   Cold Spring Harbor Perspectives in Biology

HITS-CLIP: panoramic views of protein-RNA regulation in living cells

(2010) Robert B. Darnell   Wiley Interdisciplinary Reviews-RNA

RNA and Disease

(2009) Thomas A. Cooper et al.   CELL

Epithelial-Mesenchymal Transitions in Development and Disease

(2009) Jean Paul Thiery et al.   CELL

Mutations in Ribonucleic Acid Binding Protein Gene Cause Familial Dilated Cardiomyopathy

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

ESRP1 and ESRP2 Are Epithelial Cell-Type-Specific Regulators of FGFR2 Splicing

(2009) Claude C. Warzecha et al.   MOLECULAR CELL

Mechanisms of alternative splicing regulation: insights from molecular and genomics approaches

(2009) Mo Chen et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Residual breast cancers after conventional therapy display mesenchymal as well as tumor-initiating features

(2009) C. J. Creighton et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6

(2009) C. Vance et al.   SCIENCE

Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

(2009) T. J. Kwiatkowski et al.   SCIENCE

The Epithelial-Mesenchymal Transition Generates Cells with Properties of Stem Cells

(2008) Sendurai A. Mani et al.   CELL

Defining the regulatory network of the tissue-specific splicing factors Fox-1 and Fox-2

(2008) C. Zhang et al.   GENES & DEVELOPMENT

Mutation that dramatically alters rat titin isoform expression and cardiomyocyte passive tension

(2008) Marion L. Greaser et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

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

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