Disrupted prenatal RNA processing and myogenesis in congenital myotonic dystrophy

Roles for RNA-binding proteins in development and disease

(2016) Amy E. Brinegar et al.   BRAIN RESEARCH

Dmpkgene deletion or antisense knockdown does not compromise cardiac or skeletal muscle function in mice

(2016) Samuel T. Carrell et al.   HUMAN MOLECULAR GENETICS

Near-optimal probabilistic RNA-seq quantification

(2016) Nicolas L Bray et al.   NATURE BIOTECHNOLOGY

Disease burden and functional outcomes in congenital myotonic dystrophy

(2016) Nicholas E. Johnson et al.   NEUROLOGY

Mechanistic determinants of MBNL activity

(2016) Łukasz J. Sznajder et al.   NUCLEIC ACIDS RESEARCH

Dose-Dependent Regulation of Alternative Splicing by MBNL Proteins Reveals Biomarkers for Myotonic Dystrophy

(2016) Stacey D. Wagner et al.   PLoS Genetics

Meta- and Orthogonal Integration of Influenza “OMICs” Data Defines a Role for UBR4 in Virus Budding

(2015) Shashank Tripathi et al.   Cell Host & Microbe

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

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

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

(2015) Simona Pedrotti et al.   HUMAN MOLECULAR GENETICS

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

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

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

Abnormal splicing switch of DMD’s penultimate exon compromises muscle fibre maintenance in myotonic dystrophy

(2015) Frédérique Rau et al.   Nature Communications

Uncovering the Role of Hypermethylation by CTG Expansion in Myotonic Dystrophy Type 1 Using Mutant Human Embryonic Stem Cells

(2015) Shira Yanovsky-Dagan et al.   Stem Cell Reports

An RNA-Sequencing Transcriptome and Splicing Database of Glia, Neurons, and Vascular Cells of the Cerebral Cortex

(2014) Y. Zhang et al.   JOURNAL OF NEUROSCIENCE

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

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

Loss of MBNL Leads to Disruption of Developmentally Regulated Alternative Polyadenylation in RNA-Mediated Disease

(2014) Ranjan Batra et al.   MOLECULAR CELL

The dynamics and regulators of cell fate decisions are revealed by pseudotemporal ordering of single cells

(2014) Cole Trapnell et al.   NATURE BIOTECHNOLOGY

Splicing biomarkers of disease severity in myotonic dystrophy

(2013) Masayuki Nakamori et al.   ANNALS OF NEUROLOGY

Compound loss of muscleblind-like function in myotonic dystrophy

(2013) Kuang-Yung Lee et al.   EMBO Molecular Medicine

Progressive impairment of muscle regeneration in muscleblind-like 3 isoform knockout mice

(2013) Michael G. Poulos et al.   HUMAN MOLECULAR GENETICS

Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies

(2013) Linda L. Bachinski et al.   NEUROMUSCULAR DISORDERS

OLego: fast and sensitive mapping of spliced mRNA-Seq reads using small seeds

(2013) Jie Wu et al.   NUCLEIC ACIDS RESEARCH

Transcriptome-wide Regulation of Pre-mRNA Splicing and mRNA Localization by Muscleblind Proteins

(2012) Eric T. Wang et al.   CELL

Myoblast fusion: lessons from flies and mice

(2012) S. M. Abmayr et al.   DEVELOPMENT

Building Muscle: Molecular Regulation of Myogenesis

(2012) C. F. Bentzinger et al.   Cold Spring Harbor Perspectives in Biology

CUGBP1 and MBNL1 preferentially bind to 3′ UTRs and facilitate mRNA decay

(2012) Akio Masuda et al.   Scientific Reports

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

(2011) Charlotte Fugier et al.   NATURE MEDICINE

Functional consequences of developmentally regulated alternative splicing

(2011) Auinash Kalsotra et al.   NATURE REVIEWS GENETICS

Alternative splicing dysregulation secondary to skeletal muscle regeneration

(2010) James P. Orengo et al.   ANNALS OF NEUROLOGY

Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues

(2010) Arturo López Castel et al.   HUMAN MOLECULAR GENETICS

RNA-binding Protein Muscleblind-like 3 (MBNL3) Disrupts Myocyte Enhancer Factor 2 (Mef2) β-Exon Splicing

(2010) Kyung-Soon Lee et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Analysis and design of RNA sequencing experiments for identifying isoform regulation

(2010) Yarden Katz et al.   NATURE METHODS

Global regulation of alternative splicing during myogenic differentiation

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

Between a chicken and a grape: estimating the number of human genes

(2010) Mihaela Pertea et al.   GENOME BIOLOGY

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

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

Kindlin-2 is required for myocyte elongation and is essential for myogenesis

(2008) James J Dowling et al.   BMC CELL BIOLOGY

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