RNA Toxicity and Missplicing in the Common Eye Disease Fuchs Endothelial Corneal Dystrophy

Quantifying alternative splicing from paired-end RNA-sequencing data

(2014) David Rossell et al.   Annals of Applied Statistics

RNA–protein interactions in unstable microsatellite diseases

(2014) Apoorva Mohan et al.   BRAIN RESEARCH

Repeat associated non-ATG (RAN) translation: new starts in microsatellite expansion disorders

(2014) John Douglas Cleary et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Neuroligin 1 Induces Blood Vessel Maturation by Cooperating with the α6 Integrin

(2014) Anna Valeria Samarelli et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2014) Ranjan Batra et al.   MOLECULAR CELL

RBFOX1 Cooperates with MBNL1 to Control Splicing in Muscle, Including Events Altered in Myotonic Dystrophy Type 1

(2014) Roscoe Klinck et al.   PLoS One

Fuchs Endothelial Corneal Dystrophy

(2014) Angela Y. Zhu et al.   JAMA Ophthalmology

Splicing biomarkers of disease severity in myotonic dystrophy

(2013) Masayuki Nakamori et al.   ANNALS OF NEUROLOGY

Genetics of the corneal endothelial dystrophies: an evidence-based review

(2013) A J Aldave et al.   CLINICAL GENETICS

Rho-Associated Kinase Inhibitor Eye Drop Treatment as a Possible Medical Treatment for Fuchs Corneal Dystrophy

(2013) Noriko Koizumi et al.   CORNEA

Length-dependent CTG{middle dot}CAG triplet-repeat expansion in myotonic dystrophy patient-derived induced pluripotent stem cells

(2013) J. Du 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

Fuchs' Endothelial Corneal Dystrophy

(2013) Daniel J. Repp et al.   OPHTHALMOLOGY

Oxidative stress causes DNA triplet expansion in Huntington's disease mouse embryonic stem cells

(2013) Ida Jonson et al.   Stem Cell Research

TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions

(2013) Daehwan Kim et al.   GENOME BIOLOGY

Phacopower Modulation and the Risk for Postoperative Corneal Decompensation

(2013) Muriël Doors et al.   JAMA Ophthalmology

Rational Design of Bioactive, Modularly Assembled Aminoglycosides Targeting the RNA that Causes Myotonic Dystrophy Type 1

(2012) Jessica L. Childs-Disney et al.   ACS Chemical Biology

Loss of muscleblind-like 1 promotes invasive mesenchyme formation in endocardial cushions by stimulating autocrine TGFβ3

(2012) Kathryn E LeMasters et al.   BMC DEVELOPMENTAL BIOLOGY

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

(2012) Eric T. Wang et al.   CELL

Mouse model of muscleblind-like 1 overexpression: skeletal muscle effects and therapeutic promise

(2012) Christopher M. Chamberlain et al.   HUMAN MOLECULAR GENETICS

Four parameters increase the sensitivity and specificity of the exon array analysis and disclose 25 novel aberrantly spliced exons in myotonic dystrophy

(2012) Yoshihiro Yamashita et al.   JOURNAL OF HUMAN GENETICS

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

Muscleblind-Like 1 Knockout Mice Reveal Novel Splicing Defects in the Myotonic Dystrophy Brain

(2012) Koichi Suenaga et al.   PLoS One

A Common Trinucleotide Repeat Expansion within the Transcription Factor 4 (TCF4, E2-2) Gene Predicts Fuchs Corneal Dystrophy

(2012) Eric D. Wieben et al.   PLoS One

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

Autoregulated Splicing ofmuscleblind-like 1 (MBNL1) Pre-mRNA

(2011) Devika P. Gates et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Outcomes of cataract surgery in eyes with a low corneal endothelial cell density

(2011) Katsuya Yamazoe et al.   JOURNAL OF CATARACT AND REFRACTIVE SURGERY

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

(2011) Mariely DeJesus-Hernandez et al.   NEURON

Functional Diversity of Human Basic Helix-Loop-Helix Transcription Factor TCF4 Isoforms Generated by Alternative 5′ Exon Usage and Splicing

(2011) Mari Sepp et al.   PLoS One

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

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

Missense Mutations in TCF8 Cause Late-Onset Fuchs Corneal Dystrophy and Interact with FCD4 on Chromosome 9p

(2010) S. Amer Riazuddin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Evidence of Oxidative Stress in the Pathogenesis of Fuchs Endothelial Corneal Dystrophy

(2010) Ula V. Jurkunas et al.   AMERICAN JOURNAL OF PATHOLOGY

Analysis and design of RNA sequencing experiments for identifying isoform regulation

(2010) Yarden Katz et al.   NATURE METHODS

E2-2 Protein and Fuchs's Corneal Dystrophy

(2010) Keith H. Baratz et al.   NEW ENGLAND JOURNAL OF MEDICINE

Liprin  1 is highly expressed in lymphatic vasculature and is important for lymphatic vessel integrity

(2009) C. Norrmen et al.   BLOOD

The class I bHLH factors E2-2A and E2-2B regulate EMT

(2009) V. R. Sobrado et al.   JOURNAL OF CELL SCIENCE

Expanded CTG repeats within the DMPK 3' UTR causes severe skeletal muscle wasting in an inducible mouse model for myotonic dystrophy

(2008) J. P. Orengo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA