Published in Mol Cell on July 01, 2002
Finding signals that regulate alternative splicing in the post-genomic era. Genome Biol (2002) 4.73
Muscleblind proteins regulate alternative splicing. EMBO J (2004) 4.01
Reversal of RNA dominance by displacement of protein sequestered on triplet repeat RNA. Science (2009) 3.62
Comparative genomics and molecular dynamics of DNA repeats in eukaryotes. Microbiol Mol Biol Rev (2008) 3.35
Increased steady-state levels of CUGBP1 in myotonic dystrophy 1 are due to PKC-mediated hyperphosphorylation. Mol Cell (2007) 3.26
Chloride channels as drug targets. Nat Rev Drug Discov (2008) 3.22
Reversal of RNA missplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy. Proc Natl Acad Sci U S A (2006) 3.09
Aberrant alternative splicing and extracellular matrix gene expression in mouse models of myotonic dystrophy. Nat Struct Mol Biol (2010) 3.07
Reversible model of RNA toxicity and cardiac conduction defects in myotonic dystrophy. Nat Genet (2006) 2.86
Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy. J Clin Invest (2007) 2.68
The RNA-binding protein CUGBP1 regulates stability of tumor necrosis factor mRNA in muscle cells: implications for myotonic dystrophy. J Biol Chem (2008) 2.60
MBNL binds similar RNA structures in the CUG repeats of myotonic dystrophy and its pre-mRNA substrate cardiac troponin T. RNA (2007) 2.58
The pathobiology of splicing. J Pathol (2010) 2.52
RNA gain-of-function in spinocerebellar ataxia type 8. PLoS Genet (2009) 2.45
RNA structure of trinucleotide repeats associated with human neurological diseases. Nucleic Acids Res (2003) 2.34
Pathogenic mechanisms of myotonic dystrophy. Biochem Soc Trans (2009) 2.32
RNA-mediated neurodegeneration in repeat expansion disorders. Ann Neurol (2010) 2.30
Pre-mRNA splicing in disease and therapeutics. Trends Mol Med (2012) 2.23
Elevation of RNA-binding protein CUGBP1 is an early event in an inducible heart-specific mouse model of myotonic dystrophy. J Clin Invest (2007) 2.14
Identification of putative new splicing targets for ETR-3 using sequences identified by systematic evolution of ligands by exponential enrichment. Mol Cell Biol (2005) 2.03
Expanded CTG repeats within the DMPK 3' UTR causes severe skeletal muscle wasting in an inducible mouse model for myotonic dystrophy. Proc Natl Acad Sci U S A (2008) 1.94
A correlation with exon expression approach to identify cis-regulatory elements for tissue-specific alternative splicing. Nucleic Acids Res (2007) 1.94
Dilated cardiomyopathy caused by tissue-specific ablation of SC35 in the heart. EMBO J (2004) 1.88
Myotonic dystrophy: RNA pathogenesis comes into focus. Am J Hum Genet (2004) 1.85
Transcriptional and post-transcriptional impact of toxic RNA in myotonic dystrophy. Hum Mol Genet (2009) 1.80
Interaction of muscleblind, CUG-BP1 and hnRNP H proteins in DM1-associated aberrant IR splicing. EMBO J (2006) 1.80
Cancer cells express aberrant DNMT3B transcripts encoding truncated proteins. Oncogene (2007) 1.70
Androgen-dependent pathology demonstrates myopathic contribution to the Kennedy disease phenotype in a mouse knock-in model. J Clin Invest (2006) 1.67
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Antagonistic regulation of alpha-actinin alternative splicing by CELF proteins and polypyrimidine tract binding protein. RNA (2003) 1.47
The cell biology of disease: cellular and molecular mechanisms underlying muscular dystrophy. J Cell Biol (2013) 1.45
CUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1. Hum Mol Genet (2010) 1.44
MBNL1 binds GC motifs embedded in pyrimidines to regulate alternative splicing. Nucleic Acids Res (2010) 1.43
High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany. J Neurol (2008) 1.37
Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of Ca(V)1.1 calcium channel. Hum Mol Genet (2011) 1.37
HnRNP H inhibits nuclear export of mRNA containing expanded CUG repeats and a distal branch point sequence. Nucleic Acids Res (2005) 1.37
Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy. Mol Cell Biol (2005) 1.35
CUGBP1 and MBNL1 preferentially bind to 3' UTRs and facilitate mRNA decay. Sci Rep (2012) 1.35
Insulin receptor splicing alteration in myotonic dystrophy type 2. Am J Hum Genet (2004) 1.35
Triplet repeat RNA structure and its role as pathogenic agent and therapeutic target. Nucleic Acids Res (2011) 1.29
SCA8 repeat expansion: large CTA/CTG repeat alleles are more common in ataxic patients, including those with SCA6. Am J Hum Genet (2003) 1.24
Muscleblind-like 1 (Mbnl1) promotes insulin receptor exon 11 inclusion via binding to a downstream evolutionarily conserved intronic enhancer. J Biol Chem (2010) 1.23
Ectopic expression of cyclin D3 corrects differentiation of DM1 myoblasts through activation of RNA CUG-binding protein, CUGBP1. Exp Cell Res (2008) 1.23
Splicing biomarkers of disease severity in myotonic dystrophy. Ann Neurol (2013) 1.22
Muscle channelopathies and critical points in functional and genetic studies. J Clin Invest (2005) 1.21
PKC inhibition ameliorates the cardiac phenotype in a mouse model of myotonic dystrophy type 1. J Clin Invest (2009) 1.19
Progress in therapeutic antisense applications for neuromuscular disorders. Eur J Hum Genet (2009) 1.19
Posttranscriptional regulation of gene networks by GU-rich elements and CELF proteins. RNA Biol (2008) 1.18
Misregulation of alternative splicing causes pathogenesis in myotonic dystrophy. Prog Mol Subcell Biol (2006) 1.16
ETR-3 and CELF4 protein domains required for RNA binding and splicing activity in vivo. Nucleic Acids Res (2004) 1.16
Long tract of untranslated CAG repeats is deleterious in transgenic mice. PLoS One (2011) 1.16
Structures of trinucleotide repeats in human transcripts and their functional implications. Nucleic Acids Res (2003) 1.14
MBNL and CELF proteins regulate alternative splicing of the skeletal muscle chloride channel CLCN1. Nucleic Acids Res (2009) 1.13
Identification of CELF splicing activation and repression domains in vivo. Nucleic Acids Res (2005) 1.12
Expression of RNA CCUG repeats dysregulates translation and degradation of proteins in myotonic dystrophy 2 patients. Am J Pathol (2009) 1.12
RNA-binding proteins in microsatellite expansion disorders: mediators of RNA toxicity. Brain Res (2012) 1.11
RNA toxicity in myotonic muscular dystrophy induces NKX2-5 expression. Nat Genet (2007) 1.09
Alternative splicing dysregulation secondary to skeletal muscle regeneration. Ann Neurol (2011) 1.09
The RNA-binding protein Staufen1 is increased in DM1 skeletal muscle and promotes alternative pre-mRNA splicing. J Cell Biol (2012) 1.09
Alternative splicing of RyR1 alters the efficacy of skeletal EC coupling. Cell Calcium (2009) 1.08
Myotonic dystrophies 1 and 2: complex diseases with complex mechanisms. Curr Genomics (2010) 1.07
Therapeutics development in myotonic dystrophy type 1. Muscle Nerve (2011) 1.07
Myotonic dystrophy mouse models: towards rational therapy development. Trends Mol Med (2011) 1.07
FRG1P-mediated aggregation of proteins involved in pre-mRNA processing. Chromosoma (2006) 1.07
The impact of splice isoforms on voltage-gated calcium channel alpha1 subunits. J Physiol (2003) 1.06
New function for the RNA helicase p68/DDX5 as a modifier of MBNL1 activity on expanded CUG repeats. Nucleic Acids Res (2011) 1.06
Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias. Cerebellum (2014) 1.03
GSK3β mediates muscle pathology in myotonic dystrophy. J Clin Invest (2012) 1.02
Identification of NH...N hydrogen bonds by magic angle spinning solid state NMR in a double-stranded RNA associated with myotonic dystrophy. Nucleic Acids Res (2004) 1.01
Pathogenic RNAs in microsatellite expansion disease. Neurosci Lett (2009) 1.01
Cytoplasmic CUG RNA foci are insufficient to elicit key DM1 features. PLoS One (2008) 1.01
Induction and reversal of myotonic dystrophy type 1 pre-mRNA splicing defects by small molecules. Nat Commun (2013) 1.01
Rational design of bioactive, modularly assembled aminoglycosides targeting the RNA that causes myotonic dystrophy type 1. ACS Chem Biol (2012) 1.01
The muscle chloride channel ClC-1 is not directly regulated by intracellular ATP. J Gen Physiol (2008) 1.01
Clinical aspects, molecular pathomechanisms and management of myotonic dystrophies. Acta Myol (2013) 1.01
Molecular, physiological, and motor performance defects in DMSXL mice carrying >1,000 CTG repeats from the human DM1 locus. PLoS Genet (2012) 1.01
RNA interference targeting CUG repeats in a mouse model of myotonic dystrophy. Mol Ther (2012) 1.00
The pathogenicity of splicing defects: mechanistic insights into pre-mRNA processing inform novel therapeutic approaches. EMBO Rep (2015) 0.99
Drosophila muscleblind is involved in troponin T alternative splicing and apoptosis. PLoS One (2008) 0.99
Coordinate regulation of mRNA decay networks by GU-rich elements and CELF1. Curr Opin Genet Dev (2011) 0.99
Ribonuclear foci at the neuromuscular junction in myotonic dystrophy type 1. Neuromuscul Disord (2007) 0.98
CUG-BP, Elav-like family (CELF)-mediated alternative splicing regulation in the brain during health and disease. Mol Cell Neurosci (2012) 0.98
Altered RNA splicing contributes to skeletal muscle pathology in Kennedy disease knock-in mice. Dis Model Mech (2009) 0.97
Expanded CUG repeats Dysregulate RNA splicing by altering the stoichiometry of the muscleblind 1 complex. J Biol Chem (2011) 0.97
Flies deficient in Muscleblind protein model features of myotonic dystrophy with altered splice forms of Z-band associated transcripts. Hum Genet (2006) 0.96
Myotonic dystrophy: therapeutic strategies for the future. Neurotherapeutics (2008) 0.96
Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2. Acta Neuropathol (2010) 0.94
RNA toxicity in polyglutamine disorders: concepts, models, and progress of research. J Mol Med (Berl) (2013) 0.94
Autoregulated splicing of muscleblind-like 1 (MBNL1) Pre-mRNA. J Biol Chem (2011) 0.94
Progressive impairment of muscle regeneration in muscleblind-like 3 isoform knockout mice. Hum Mol Genet (2013) 0.92
Molecular mechanisms of muscle atrophy in myotonic dystrophies. Int J Biochem Cell Biol (2013) 0.91
Epigenetic changes and non-coding expanded repeats. Neurobiol Dis (2010) 0.91
Discovery of CLC transport proteins: cloning, structure, function and pathophysiology. J Physiol (2015) 0.91
Huntington disease skeletal muscle is hyperexcitable owing to chloride and potassium channel dysfunction. Proc Natl Acad Sci U S A (2013) 0.91
Alternative splicing controls myotonic dystrophy protein kinase structure, enzymatic activity, and subcellular localization. Mol Cell Biol (2003) 0.90
The neurofibromatosis type I pre-mRNA is a novel target of CELF protein-mediated splicing regulation. Nucleic Acids Res (2009) 0.89
mRNA nuclear export and human disease. Dis Model Mech (2008) 0.87
Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions. J Neurol (2012) 0.87
Evaluating the effects of CELF1 deficiency in a mouse model of RNA toxicity. Hum Mol Genet (2013) 0.87
Pre-mRNA splicing and human disease. Genes Dev (2003) 9.13
Splicing in disease: disruption of the splicing code and the decoding machinery. Nat Rev Genet (2007) 7.42
Finding signals that regulate alternative splicing in the post-genomic era. Genome Biol (2002) 4.73
RNA-mediated neuromuscular disorders. Annu Rev Neurosci (2006) 4.24
Muscleblind proteins regulate alternative splicing. EMBO J (2004) 4.01
Expression of 24,426 human alternative splicing events and predicted cis regulation in 48 tissues and cell lines. Nat Genet (2008) 3.78
Temporal shifts in the skin microbiome associated with disease flares and treatment in children with atopic dermatitis. Genome Res (2012) 3.71
Conservation of RET regulatory function from human to zebrafish without sequence similarity. Science (2006) 3.59
Evaluating the biological relevance of putative enhancers using Tol2 transposon-mediated transgenesis in zebrafish. Nat Protoc (2006) 3.57
The pINDUCER lentiviral toolkit for inducible RNA interference in vitro and in vivo. Proc Natl Acad Sci U S A (2011) 3.40
A postnatal switch of CELF and MBNL proteins reprograms alternative splicing in the developing heart. Proc Natl Acad Sci U S A (2008) 3.33
Functional consequences of developmentally regulated alternative splicing. Nat Rev Genet (2011) 3.27
Increased steady-state levels of CUGBP1 in myotonic dystrophy 1 are due to PKC-mediated hyperphosphorylation. Mol Cell (2007) 3.26
Transgenic mice expressing CUG-BP1 reproduce splicing mis-regulation observed in myotonic dystrophy. Hum Mol Genet (2005) 2.59
The pathobiology of splicing. J Pathol (2010) 2.52
Regulation of carbohydrate metabolism by the farnesoid X receptor. Endocrinology (2004) 2.44
Pathogenic mechanisms of myotonic dystrophy. Biochem Soc Trans (2009) 2.32
Colocalization of muscleblind with RNA foci is separable from mis-regulation of alternative splicing in myotonic dystrophy. J Cell Sci (2005) 2.31
Dynamic antagonism between ETR-3 and PTB regulates cell type-specific alternative splicing. Mol Cell (2002) 2.27
Pre-mRNA splicing in disease and therapeutics. Trends Mol Med (2012) 2.23
Elevation of RNA-binding protein CUGBP1 is an early event in an inducible heart-specific mouse model of myotonic dystrophy. J Clin Invest (2007) 2.14
Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability. Am J Hum Genet (2010) 2.12
PD-L1 expression in triple-negative breast cancer. Cancer Immunol Res (2014) 2.06
Identification of putative new splicing targets for ETR-3 using sequences identified by systematic evolution of ligands by exponential enrichment. Mol Cell Biol (2005) 2.03
Dynamic balance between activation and repression regulates pre-mRNA alternative splicing during heart development. Dev Dyn (2005) 1.95
Expanded CTG repeats within the DMPK 3' UTR causes severe skeletal muscle wasting in an inducible mouse model for myotonic dystrophy. Proc Natl Acad Sci U S A (2008) 1.94
MBNL1 and CUGBP1 modify expanded CUG-induced toxicity in a Drosophila model of myotonic dystrophy type 1. Hum Mol Genet (2006) 1.77
Decellularization of human and porcine lung tissues for pulmonary tissue engineering. Ann Thorac Surg (2013) 1.76
Antagonistic regulation of alpha-actinin alternative splicing by CELF proteins and polypyrimidine tract binding protein. RNA (2003) 1.47
CUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1. Hum Mol Genet (2010) 1.44
CELF6, a member of the CELF family of RNA-binding proteins, regulates muscle-specific splicing enhancer-dependent alternative splicing. J Biol Chem (2004) 1.43
RNase H-mediated degradation of toxic RNA in myotonic dystrophy type 1. Proc Natl Acad Sci U S A (2012) 1.40
Global regulation of alternative splicing during myogenic differentiation. Nucleic Acids Res (2010) 1.39
Cardiac tissue-specific repression of CELF activity disrupts alternative splicing and causes cardiomyopathy. Mol Cell Biol (2005) 1.35
Heart-specific overexpression of CUGBP1 reproduces functional and molecular abnormalities of myotonic dystrophy type 1. Hum Mol Genet (2010) 1.35
The neuropathic diabetic foot ulcer microbiome is associated with clinical factors. Diabetes (2012) 1.31
Minigene reporter for identification and analysis of cis elements and trans factors affecting pre-mRNA splicing. Biotechniques (2006) 1.30
A bichromatic fluorescent reporter for cell-based screens of alternative splicing. Nucleic Acids Res (2006) 1.26
eIF4E knockdown decreases breast cancer cell growth without activating Akt signaling. Mol Cancer Ther (2008) 1.26
Alternative splicing in disease. Adv Exp Med Biol (2007) 1.22
MicroRNAs coordinate an alternative splicing network during mouse postnatal heart development. Genes Dev (2010) 1.22
Rapamycin regulates stearoyl CoA desaturase 1 expression in breast cancer. Mol Cancer Ther (2010) 1.21
Identification of MBNL1 and MBNL3 domains required for splicing activation and repression. Nucleic Acids Res (2010) 1.20
PKC inhibition ameliorates the cardiac phenotype in a mouse model of myotonic dystrophy type 1. J Clin Invest (2009) 1.19
High-throughput screening of mouse knockout lines identifies true lean and obese phenotypes. Obesity (Silver Spring) (2008) 1.18
Complement modulates the cutaneous microbiome and inflammatory milieu. Proc Natl Acad Sci U S A (2013) 1.17
Misregulation of alternative splicing causes pathogenesis in myotonic dystrophy. Prog Mol Subcell Biol (2006) 1.16
ETR-3 and CELF4 protein domains required for RNA binding and splicing activity in vivo. Nucleic Acids Res (2004) 1.16
Rapamycin regulates the phosphorylation of rictor. Biochem Biophys Res Commun (2007) 1.13
Identification of CELF splicing activation and repression domains in vivo. Nucleic Acids Res (2005) 1.12
Breast cancer cell uptake of the inflammatory mediator neutrophil elastase triggers an anticancer adaptive immune response. Cancer Res (2012) 1.12
Multiple domains control the subcellular localization and activity of ETR-3, a regulator of nuclear and cytoplasmic RNA processing events. J Cell Sci (2004) 1.11
RNA-binding proteins in microsatellite expansion disorders: mediators of RNA toxicity. Brain Res (2012) 1.11
Alternative splicing dysregulation secondary to skeletal muscle regeneration. Ann Neurol (2011) 1.09
Microbial ecology of the skin in the era of metagenomics and molecular microbiology. Cold Spring Harb Perspect Med (2013) 1.07
Myotonic dystrophy mouse models: towards rational therapy development. Trends Mol Med (2011) 1.07
Identification and characterization of noncalcemic, tissue-selective, nonsecosteroidal vitamin D receptor modulators. J Clin Invest (2006) 1.03
Matriptase-deficient mice exhibit ichthyotic skin with a selective shift in skin microbiota. J Invest Dermatol (2009) 1.01
CUGBP2 directly interacts with U2 17S snRNP components and promotes U2 snRNA binding to cardiac troponin T pre-mRNA. Nucleic Acids Res (2009) 0.97
Regulation of human 3 alpha-hydroxysteroid dehydrogenase (AKR1C4) expression by the liver X receptor alpha. Mol Pharmacol (2007) 0.96
Phenotype-genotype correlation in Hirschsprung disease is illuminated by comparative analysis of the RET protein sequence. Proc Natl Acad Sci U S A (2005) 0.95
A method for analysis of gene expression in isolated mouse photoreceptor and Müller cells. Mol Vis (2004) 0.95
Culture-independent pilot study of microbiota colonizing open fractures and association with severity, mechanism, location, and complication from presentation to early outpatient follow-up. J Orthop Res (2014) 0.92
Reexpression of pyruvate kinase M2 in type 1 myofibers correlates with altered glucose metabolism in myotonic dystrophy. Proc Natl Acad Sci U S A (2013) 0.92
Expression, localization and tau exon 10 splicing activity of the brain RNA-binding protein TNRC4. Hum Mol Genet (2007) 0.90
Broad cross-presentation of the hematopoietically derived PR1 antigen on solid tumors leads to susceptibility to PR1-targeted immunotherapy. J Immunol (2012) 0.87
Interactions between host factors and the skin microbiome. Cell Mol Life Sci (2014) 0.87
Myotonic dystrophy: discussion of molecular basis. Adv Exp Med Biol (2002) 0.85
Regulation and localization of ribosomal protein S6 kinase 1 isoforms. Growth Factors (2009) 0.84
Muscleblind-like 1 activates insulin receptor exon 11 inclusion by enhancing U2AF65 binding and splicing of the upstream intron. Nucleic Acids Res (2013) 0.84
Antisense oligonucleotides: rising stars in eliminating RNA toxicity in myotonic dystrophy. Hum Gene Ther (2013) 0.80
Rat model of veno-arterial extracorporeal membrane oxygenation. J Transl Med (2014) 0.79
Micromanaging alternative splicing during muscle differentiation. Dev Cell (2007) 0.78
In silico characterization of histidine Acid phytase sequences. Enzyme Res (2012) 0.78
RNA-binding proteins in heart development. Adv Exp Med Biol (2014) 0.78
Ethnic/racial and genetic influences on cerumen odorant profiles. J Chem Ecol (2014) 0.76
Solvent dependent competition between fluorescence resonance energy transfer and through bond energy transfer in rhodamine appended hexaphenylbenzene derivatives for sensing of Hg(2+) ions. Dalton Trans (2013) 0.76
In Brief: (mis)splicing in disease. J Pathol (2014) 0.75
Regulation of chloride ion conductance during skeletal muscle development and in disease. Focus on "Chloride channelopathy in myotonic dystrophy resulting from loss of posttranscriptional regulation for CLCN1". Am J Physiol Cell Physiol (2007) 0.75
Regulating mRNA complexity in the mammalian brain. Nat Genet (2011) 0.75
Delayed development of infrarenal abdominal aortic pseudoaneurysm after blunt trauma: a case report and review of the literature. J Trauma (2004) 0.75
International Anesthesia Research Society Annual Meeting: then & now. Anesth Analg (2012) 0.75
BNA(NC) gapmers revert splicing and reduce RNA foci with low toxicity in myotonic dystrophy cells. ACS Chem Biol (2017) 0.75
Physician assistant model for lung procurements: a paradigm worth considering. Ann Thorac Surg (2013) 0.75
A novel ECMO circuit using a SYNERGY circulite pump in a swine model. ASAIO J (2014) 0.75
Cutaneous Burn Injury Promotes Shifts in the Bacterial Microbiome in Autologous Donor Skin: Implications for Skin Grafting Outcomes. Shock (2017) 0.75