When one becomes many-Alternative splicing in β-cell function and failure

The Expanding Landscape of Alternative Splicing Variation in Human Populations

(2018) Eddie Park et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Alternative splicing in cancers: From aberrant regulation to new therapeutics

(2018) Xiaowei Song et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Identification of protein features encoded by alternative exons using Exon Ontology

(2017) Léon-Charles Tranchevent et al.   GENOME RESEARCH

SRSF6-regulated alternative splicing that promotes tumour progression offers a therapy target for colorectal cancer

(2017) Ledong Wan et al.   GUT

Faulty RNA splicing: consequences and therapeutic opportunities in brain and muscle disorders

(2017) Vittoria Pagliarini et al.   HUMAN GENETICS

Spinal muscular atrophy: antisense oligonucleotide therapy opens the door to an integrated therapeutic landscape

(2017) Matthew J.A. Wood et al.   HUMAN MOLECULAR GENETICS

Neuron-enriched RNA-binding Proteins Regulate Pancreatic Beta Cell Function and Survival

(2017) Jonàs Juan-Mateu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Single-Cell Alternative Splicing Analysis with Expedition Reveals Splicing Dynamics during Neuron Differentiation

(2017) Yan Song et al.   MOLECULAR CELL

Mechanistic insights into precursor messenger RNA splicing by the spliceosome

(2017) Yigong Shi   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Alternative splicing as a regulator of development and tissue identity

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

ASpedia: a comprehensive encyclopedia of human alternative splicing

(2017) Daejin Hyung et al.   NUCLEIC ACIDS RESEARCH

Eteplirsen in the treatment of Duchenne muscular dystrophy

(2017) Kenji Rowel Lim et al.   Drug Design Development and Therapy

Development of Exon Skipping Therapies for Duchenne Muscular Dystrophy: A Critical Review and a Perspective on the Outstanding Issues

(2017) Annemieke Aartsma-Rus et al.   Nucleic Acid Therapeutics

The Functional Impact of Alternative Splicing in Cancer

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

Type 1 Diabetes Candidate Genes Linked to Pancreatic Islet Cell Inflammation and Beta-Cell Apoptosis

(2017) Joachim Størling et al.   Genes

REST, a master regulator of neurogenesis, evolved under strong positive selection in humans and in non human primates

(2017) Alessandra Mozzi et al.   Scientific Reports

A nanobody-based tracer targeting DPP6 for non-invasive imaging of human pancreatic endocrine cells

(2017) Alexander Balhuizen et al.   Scientific Reports

RNA-binding protein HuD reduces triglyceride production in pancreatic β cells by enhancing the expression of insulin-induced gene 1

(2016) Chongtae Kim et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

ExonImpact: Prioritizing Pathogenic Alternative Splicing Events

(2016) Meng Li et al.   HUMAN MUTATION

JNK Signaling: Regulation and Functions Based on Complex Protein-Protein Partnerships

(2016) András Zeke et al.   MICROBIOLOGY AND MOLECULAR BIOLOGY REVIEWS

Viral infections in type 1 diabetes mellitus — why the β cells?

(2016) Anne Op de Beeck et al.   Nature Reviews Endocrinology

The roles of RNA processing in translating genotype to phenotype

(2016) Kassie S. Manning et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Integrating transcriptome and proteome profiling: Strategies and applications

(2016) Dhirendra Kumar et al.   PROTEOMICS

Developmental regulation of RNA processing by Rbfox proteins

(2016) John G. Conboy   Wiley Interdisciplinary Reviews-RNA

NOVA2-mediated RNA regulation is required for axonal pathfinding during development

(2016) Yuhki Saito et al.   eLife

Prediction and Quantification of Splice Events from RNA-Seq Data

(2016) Leonard D. Goldstein et al.   PLoS One

Insulin receptor alternative splicing is regulated by insulin signaling and modulates beta cell survival

(2016) Pushkar Malakar et al.   Scientific Reports

MECHANISMS IN ENDOCRINOLOGY: Alternative splicing: the new frontier in diabetes research

(2015) Jonàs Juan-Mateu et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

The RNA-binding protein Rbfox1 regulates splicing required for skeletal muscle structure and function

(2015) Simona Pedrotti et al.   HUMAN MOLECULAR GENETICS

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

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

Regulation of Splicing Factors by Alternative Splicing and NMD Is Conserved between Kingdoms Yet Evolutionarily Flexible

(2015) Liana F. Lareau et al.   MOLECULAR BIOLOGY AND EVOLUTION

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

Spinal muscular atrophy—recent therapeutic advances for an old challenge

(2015) Irene Faravelli et al.   Nature Reviews Neurology

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

(2015) Bushra Raj et al.   NEURON

SplicePie: a novel analytical approach for the detection of alternative, non-sequential and recursive splicing

(2015) Irina Pulyakhina et al.   NUCLEIC ACIDS RESEARCH

Trimmomatic: a flexible trimmer for Illumina sequence data

(2014) Anthony M. Bolger et al.   BIOINFORMATICS

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

(2014) Manuel Irimia et al.   CELL

Splicing factor SRSF6 promotes hyperplasia of sensitized skin

(2014) Mads A Jensen et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

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

(2014) Olatz Villate et al.   NUCLEIC ACIDS RESEARCH

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

Alternative Splice Forms of CTLA-4 Induced by Antisense Mediated Splice-Switching Influences Autoimmune Diabetes Susceptibility in NOD Mice

(2014) Dan V. Mourich et al.   Nucleic Acid Therapeutics

RNAmotifs: prediction of multivalent RNA motifs that control alternative splicing

(2014) Matteo Cereda et al.   GENOME BIOLOGY

ASPeak: an abundance sensitive peak detection algorithm for RIP-Seq

(2013) A. Kucukural et al.   BIOINFORMATICS

The impact of splicing on protein domain architecture

(2013) Sara Light et al.   CURRENT OPINION IN STRUCTURAL BIOLOGY

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

(2013) Miriam Cnop et al.   DIABETES

Candidate genes for type 1 diabetes modulate pancreatic islet inflammation andβ-cell apoptosis

(2013) I. Santin et al.   DIABETES OBESITY & METABOLISM

Characterization of PTPN2 and its use as a biomarker

(2013) Stéphanie Bussières-Marmen et al.   METHODS

Genome-wide Analysis Reveals SR Protein Cooperation and Competition in Regulated Splicing

(2013) Shatakshi Pandit et al.   MOLECULAR CELL

Alternative splicing: a pivotal step between eukaryotic transcription and translation

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

Rbfox proteins regulate alternative mRNA splicing through evolutionarily conserved RNA bridges

(2013) Michael T Lovci et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

GLIS3, a Susceptibility Gene for Type 1 and Type 2 Diabetes, Modulates Pancreatic Beta Cell Apoptosis via Regulation of a Splice Variant of the BH3-Only Protein Bim

(2013) Tatiane C. Nogueira et al.   PLoS Genetics

Targeting RNA splicing for disease therapy

(2013) Mallory A. Havens et al.   Wiley Interdisciplinary Reviews-RNA

Site identification in high-throughput RNA–protein interaction data

(2012) Philip J. Uren et al.   BIOINFORMATICS

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

Challenges in estimating percent inclusion of alternatively spliced junctions from RNA-seq data

(2012) Boyko Kakaradov et al.   BMC BIOINFORMATICS

Detecting differential usage of exons from RNA-seq data

(2012) S. Anders et al.   GENOME RESEARCH

TAK1, more than just innate immunity

(2012) Liang Dai et al.   IUBMB LIFE

Antisense-based therapy for the treatment of spinal muscular atrophy

(2012) Frank Rigo et al.   JOURNAL OF CELL BIOLOGY

Streaming fragment assignment for real-time analysis of sequencing experiments

(2012) Adam Roberts et al.   NATURE METHODS

Dantrolene Enhances Antisense-Mediated Exon Skipping in Human and Mouse Models of Duchenne Muscular Dystrophy

(2012) G. C. Kendall et al.   Science Translational Medicine

Pre-mRNA splicing in disease and therapeutics

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

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

β-Cell evolution: How the pancreas borrowed from the brain

(2011) Margot E. Arntfield et al.   BIOESSAYS

Comparative analysis of RNA-Seq alignment algorithms and the RNA-Seq unified mapper (RUM)

(2011) Gregory R. Grant et al.   BIOINFORMATICS

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

(2011) Bo Li et al.   BMC BIOINFORMATICS

PTPN2, a Candidate Gene for Type 1 Diabetes, Modulates Pancreatic  -Cell Apoptosis via Regulation of the BH3-Only Protein Bim

(2011) I. Santin et al.   DIABETES

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

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

Understanding splicing regulation through RNA splicing maps

(2011) Joshua T. Witten et al.   TRENDS IN GENETICS

The interferon regulatory factor 5 gene confers susceptibility to rheumatoid arthritis and influences its erosive phenotype

(2010) K. Dawidowicz et al.   ANNALS OF THE RHEUMATIC DISEASES

Fast and SNP-tolerant detection of complex variants and splicing in short reads

(2010) T. D. Wu et al.   BIOINFORMATICS

RNAstructure: software for RNA secondary structure prediction and analysis

(2010) Jessica S Reuter et al.   BMC BIOINFORMATICS

NGSQC: cross-platform quality analysis pipeline for deep sequencing data

(2010) Manhong Dai et al.   BMC GENOMICS

A genomic-based approach identifies FXYD domain containing ion transport regulator 2 (FXYD2)γa as a pancreatic beta cell-specific biomarker

(2010) D. Flamez et al.   DIABETOLOGIA

Alternative Splicing Factor/Splicing Factor 2 Regulates the Expression of the ζ Subunit of the Human T Cell Receptor-associated CD3 Complex

(2010) Vaishali R. Moulton et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Simple Combinations of Lineage-Determining Transcription Factors Prime cis-Regulatory Elements Required for Macrophage and B Cell Identities

(2010) Sven Heinz et al.   MOLECULAR CELL

Transcriptome genetics using second generation sequencing in a Caucasian population

(2010) Stephen B. Montgomery et al.   NATURE

Transcript assembly and quantification by RNA-Seq reveals unannotated transcripts and isoform switching during cell differentiation

(2010) Cole Trapnell et al.   NATURE BIOTECHNOLOGY

Analysis and design of RNA sequencing experiments for identifying isoform regulation

(2010) Yarden Katz et al.   NATURE METHODS

MapSplice: Accurate mapping of RNA-seq reads for splice junction discovery

(2010) Kai Wang et al.   NUCLEIC ACIDS RESEARCH

TopHat: discovering splice junctions with RNA-Seq

(2009) Cole Trapnell et al.   BIOINFORMATICS

edgeR: a Bioconductor package for differential expression analysis of digital gene expression data

(2009) M. D. Robinson et al.   BIOINFORMATICS

CLIP: Construction of cDNA libraries for high-throughput sequencing from RNAs cross-linked to proteins in vivo

(2009) Zhen Wang et al.   METHODS

Baxβ: A Constitutively Active Human Bax Isoform that Is under Tight Regulatory Control by the Proteasomal Degradation Mechanism

(2009) Nai Yang Fu et al.   MOLECULAR CELL

The role of inflammation in insulitis and β-cell loss in type 1 diabetes

(2009) Décio L. Eizirik et al.   Nature Reviews Endocrinology

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

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

A hierarchical Bayesian model for comparing transcriptomes at the individual transcript isoform level

(2009) Sika Zheng et al.   NUCLEIC ACIDS RESEARCH

MEME SUITE: tools for motif discovery and searching

(2009) T. L. Bailey et al.   NUCLEIC ACIDS RESEARCH

Pentamidine reverses the splicing defects associated with myotonic dystrophy

(2009) M. B. Warf et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Alternative Splicing of CD45: The Tip of the Iceberg

(2008) Julie Zikherman et al.   IMMUNITY

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

Tissue-specific splicing factor gene expression signatures

(2008) Ana Rita Grosso et al.   NUCLEIC ACIDS RESEARCH

JunB Inhibits ER Stress and Apoptosis in Pancreatic Beta Cells

(2008) Esteban N. Gurzov et al.   PLoS One