Published in Hum Mol Genet on May 15, 2003
ESEfinder: A web resource to identify exonic splicing enhancers. Nucleic Acids Res (2003) 12.81
Splicing in action: assessing disease causing sequence changes. J Med Genet (2005) 3.07
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet (2013) 2.91
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibros (2008) 2.56
Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron. Mol Cell Biol (2006) 2.41
Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution. Proc Natl Acad Sci U S A (2005) 2.12
Defective splicing, disease and therapy: searching for master checkpoints in exon definition. Nucleic Acids Res (2006) 1.89
Distribution of SR protein exonic splicing enhancer motifs in human protein-coding genes. Nucleic Acids Res (2005) 1.70
In vivo selection reveals combinatorial controls that define a critical exon in the spinal muscular atrophy genes. RNA (2004) 1.60
Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT. Am J Hum Genet (2005) 1.56
RNA folding affects the recruitment of SR proteins by mouse and human polypurinic enhancer elements in the fibronectin EDA exon. Mol Cell Biol (2004) 1.54
Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools. PLoS Genet (2016) 1.53
Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer. Am J Hum Genet (2007) 1.50
Binding of DAZAP1 and hnRNPA1/A2 to an exonic splicing silencer in a natural BRCA1 exon 18 mutant. Mol Cell Biol (2008) 1.35
Computational comparative analyses of alternative splicing regulation using full-length cDNA of various eukaryotes. RNA (2004) 1.33
Statistical evidence for conserved, local secondary structure in the coding regions of eukaryotic mRNAs and pre-mRNAs. Nucleic Acids Res (2005) 1.30
Global control of aberrant splice-site activation by auxiliary splicing sequences: evidence for a gradient in exon and intron definition. Nucleic Acids Res (2007) 1.25
An evolutionary genomic approach to identify genes involved in human birth timing. PLoS Genet (2011) 1.20
Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations. Neurogenetics (2004) 1.19
Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene. Hum Mutat (2011) 1.13
An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects. Hum Mol Genet (2012) 1.11
Influence of Friedreich ataxia GAA noncoding repeat expansions on pre-mRNA processing. Am J Hum Genet (2008) 1.09
In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects. BMC Genomics (2006) 1.08
TIA1 prevents skipping of a critical exon associated with spinal muscular atrophy. Mol Cell Biol (2010) 1.05
Decoding mechanisms by which silent codon changes influence protein biogenesis and function. Int J Biochem Cell Biol (2015) 1.04
Exonization of AluYa5 in the human ACE gene requires mutations in both 3' and 5' splice sites and is facilitated by a conserved splicing enhancer. Nucleic Acids Res (2005) 1.02
Rapid generation of splicing reporters with pSpliceExpress. Gene (2008) 0.99
The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria. Hum Mutat (2010) 0.99
Restoration of the cystic fibrosis transmembrane conductance regulator function by splicing modulation. EMBO Rep (2004) 0.98
The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis. J Korean Med Sci (2007) 0.96
Disruption of an exon splicing enhancer in exon 3 of MLH1 is the cause of HNPCC in a Quebec family. J Med Genet (2005) 0.95
Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes. Breast Cancer Res (2012) 0.92
Splicing analysis disclosed a determinant single nucleotide for exon skipping caused by a novel intraexonic four-nucleotide deletion in the dystrophin gene. J Med Genet (2006) 0.91
Functional analysis of splicing mutations in exon 7 of NF1 gene. BMC Med Genet (2007) 0.90
Modulating alternative splicing by cotranscriptional cleavage of nascent intronic RNA. RNA (2007) 0.89
Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients. Biomed Res Int (2013) 0.89
A nonsense exon in the Tpm1 gene is silenced by hnRNP H and F. RNA (2008) 0.88
The dual effect of the lupus-associated polymorphism rs10516487 on BANK1 gene expression and protein localization. Genes Immun (2011) 0.87
An Alu-derived intronic splicing enhancer facilitates intronic processing and modulates aberrant splicing in ATM. Nucleic Acids Res (2009) 0.87
Spontaneous rescue from cystic fibrosis in a mouse model. BMC Genet (2006) 0.87
Reduced splicing efficiency induced by synonymous substitutions may generate a substrate for natural selection of new splicing isoforms: the case of CFTR exon 12. Nucleic Acids Res (2006) 0.86
Evolutionary constraint helps unmask a splicing regulatory region in BRCA1 exon 11. PLoS One (2012) 0.86
Functional analysis of synonymous substitutions predicted to affect splicing of the CFTR gene. J Cyst Fibros (2012) 0.85
Evolutionary conservation analysis increases the colocalization of predicted exonic splicing enhancers in the BRCA1 gene with missense sequence changes and in-frame deletions, but not polymorphisms. Breast Cancer Res (2005) 0.85
Functional properties and evolutionary splicing constraints on a composite exonic regulatory element of splicing in CFTR exon 12. Nucleic Acids Res (2009) 0.84
Improvement of SMN2 pre-mRNA processing mediated by exon-specific U1 small nuclear RNA. Am J Hum Genet (2014) 0.84
Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review. J Mol Diagn (2009) 0.82
A synonymous mutation in the CFTR gene causes aberrant splicing in an italian patient affected by a mild form of cystic fibrosis. J Mol Diagn (2010) 0.81
Exonic splicing signals impose constraints upon the evolution of enzymatic activity. Nucleic Acids Res (2014) 0.81
Therapeutic activity of modified U1 core spliceosomal particles. Nat Commun (2016) 0.81
Identification of cis-acting elements and splicing factors involved in the regulation of BIM Pre-mRNA splicing. PLoS One (2014) 0.79
Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function. PLoS Genet (2016) 0.79
Determination of disease phenotypes and pathogenic variants from exome sequence data in the CAGI 4 gene panel challenge. Hum Mutat (2017) 0.78
Relationship between mRNA secondary structure and sequence variability in Chloroplast genes: possible life history implications. BMC Genomics (2008) 0.78
Assessing the residual CFTR gene expression in human nasal epithelium cells bearing CFTR splicing mutations causing cystic fibrosis. Eur J Hum Genet (2013) 0.78
Intron cleavage affects processing of alternatively spliced transcripts. RNA (2011) 0.77
BRCA1 EXON 11, a CERES (composite regulatory element of splicing) element involved in splice regulation. Int J Mol Sci (2014) 0.77
Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes. PLoS One (2013) 0.76
Genotype-phenotype correlation in cystic fibrosis patients bearing [H939R;H949L] allele. Genet Mol Biol (2011) 0.75
N1303K (c.3909C>G) mutation and splicing: implication of its c.[744-33GATT(6); 869+11C>T] complex allele in CFTR exon 7 aberrant splicing. Biomed Res Int (2015) 0.75
Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine. BMC Med Genomics (2017) 0.75
Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease. Front Biosci (2008) 4.01
TDP-43 binds heterogeneous nuclear ribonucleoprotein A/B through its C-terminal tail: an important region for the inhibition of cystic fibrosis transmembrane conductance regulator exon 9 splicing. J Biol Chem (2005) 3.99
Human, Drosophila, and C.elegans TDP43: nucleic acid binding properties and splicing regulatory function. J Mol Biol (2005) 3.33
Genomic variants in exons and introns: identifying the splicing spoilers. Nat Rev Genet (2004) 3.26
Influence of RNA secondary structure on the pre-mRNA splicing process. Mol Cell Biol (2004) 3.07
TDP-43 regulates its mRNA levels through a negative feedback loop. EMBO J (2010) 2.90
Structural determinants of the cellular localization and shuttling of TDP-43. J Cell Sci (2008) 2.79
TDP-43 regulates retinoblastoma protein phosphorylation through the repression of cyclin-dependent kinase 6 expression. Proc Natl Acad Sci U S A (2008) 2.58
Depletion of TDP 43 overrides the need for exonic and intronic splicing enhancers in the human apoA-II gene. Nucleic Acids Res (2005) 2.55
Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach. Nat Genet (2011) 2.51
Depletion of TDP-43 affects Drosophila motoneurons terminal synapsis and locomotive behavior. FEBS Lett (2009) 2.48
Nuclear factor TDP-43 binds to the polymorphic TG repeats in CFTR intron 8 and causes skipping of exon 9: a functional link with disease penetrance. Am J Hum Genet (2004) 2.35
Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9. J Biol Chem (2003) 2.34
Regulated splicing of the fibronectin EDA exon is essential for proper skin wound healing and normal lifespan. J Cell Biol (2003) 2.16
Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution. Proc Natl Acad Sci U S A (2005) 2.12
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations. Eur J Hum Genet (2008) 2.01
An essential role for fibronectin extra type III domain A in pulmonary fibrosis. Am J Respir Crit Care Med (2007) 1.91
Defective splicing, disease and therapy: searching for master checkpoints in exon definition. Nucleic Acids Res (2006) 1.89
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign. Am J Hum Genet (2003) 1.81
Functional mapping of the interaction between TDP-43 and hnRNP A2 in vivo. Nucleic Acids Res (2009) 1.77
Abnormal phosphorylation of Ser409/410 of TDP-43 in FTLD-U and ALS. FEBS Lett (2008) 1.76
A new type of mutation causes a splicing defect in ATM. Nat Genet (2002) 1.74
Prothrombotic effects of fibronectin isoforms containing the EDA domain. Arterioscler Thromb Vasc Biol (2007) 1.66
Nuclear factor TDP-43 can affect selected microRNA levels. FEBS J (2010) 1.66
RNA folding affects the recruitment of SR proteins by mouse and human polypurinic enhancer elements in the fibronectin EDA exon. Mol Cell Biol (2004) 1.54
Dramatic elevations of interleukin-6 and acute-phase reactants in athletes participating in the ultradistance foot race spartathlon: severe systemic inflammation and lipid and lipoprotein changes in protracted exercise. J Clin Endocrinol Metab (2005) 1.53
TDP-43 and FUS RNA-binding proteins bind distinct sets of cytoplasmic messenger RNAs and differently regulate their post-transcriptional fate in motoneuron-like cells. J Biol Chem (2012) 1.50
Association of VEGF gene polymorphisms with the development of heart failure in patients after myocardial infarction. Cardiology (2009) 1.50
The molecular links between TDP-43 dysfunction and neurodegeneration. Adv Genet (2009) 1.46
An IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in thymus. Nature (2007) 1.46
hnRNP H binding at the 5' splice site correlates with the pathological effect of two intronic mutations in the NF-1 and TSHbeta genes. Nucleic Acids Res (2004) 1.45
TDP43 depletion rescues aberrant CFTR exon 9 skipping. FEBS Lett (2006) 1.45
Promoter architecture modulates CFTR exon 9 skipping. J Biol Chem (2002) 1.41
Three novel mutations in greek sotos patients with rare clinical manifestations. Horm Res (2008) 1.37
Autoregulation of TDP-43 mRNA levels involves interplay between transcription, splicing, and alternative polyA site selection. Genes Dev (2012) 1.33
Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms. Eur J Hum Genet (2006) 1.33
An intronic polypyrimidine-rich element downstream of the donor site modulates cystic fibrosis transmembrane conductance regulator exon 9 alternative splicing. J Biol Chem (2004) 1.31
Meta-analysis of association between the ASPN D-repeat and osteoarthritis. Hum Mol Genet (2007) 1.28
Androgen insensitivity syndrome: clinical features and molecular defects. Hormones (Athens) (2008) 1.28
A polar mechanism coordinates different regions of alternative splicing within a single gene. Mol Cell (2005) 1.26
Molecular basis of UG-rich RNA recognition by the human splicing factor TDP-43. Nat Struct Mol Biol (2013) 1.25
TDP-43: gumming up neurons through protein-protein and protein-RNA interactions. Trends Biochem Sci (2012) 1.24
Phosphorylated and ubiquitinated TDP-43 pathological inclusions in ALS and FTLD-U are recapitulated in SH-SY5Y cells. FEBS Lett (2008) 1.21
Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation. Ann Neurol (2004) 1.18
Wilson disease in children: analysis of 57 cases. J Pediatr Gastroenterol Nutr (2009) 1.17
SR protein-mediated inhibition of CFTR exon 9 inclusion: molecular characterization of the intronic splicing silencer. Nucleic Acids Res (2007) 1.17
Rapid screening of multiple beta-globin gene mutations by real-time PCR on the LightCycler: application to carrier screening and prenatal diagnosis of thalassemia syndromes. Clin Chem (2003) 1.15
Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships. Hum Mutat (2008) 1.15
Genetic characterization of myeloperoxidase deficiency in Italy. Hum Mutat (2004) 1.14
A major fraction of fibronectin present in the extracellular matrix of tissues is plasma-derived. J Biol Chem (2007) 1.13
NF1 mRNA biogenesis: effect of the genomic milieu in splicing regulation of the NF1 exon 37 region. FEBS Lett (2006) 1.12
Complex splicing control of the human Thrombopoietin gene by intronic G runs. Nucleic Acids Res (2006) 1.09
Cellular model of TAR DNA-binding protein 43 (TDP-43) aggregation based on its C-terminal Gln/Asn-rich region. J Biol Chem (2012) 1.08
Longitudinal study of survival and causes of death in patients with thalassemia major in Greece. Ann N Y Acad Sci (2005) 1.08
Regulation of 3' splice site selection in the 844ins68 polymorphism of the cystathionine Beta -synthase gene. J Biol Chem (2002) 1.08
High incidence and allelic homogeneity of Wilson disease in 2 isolated populations: a prerequisite for efficient disease prevention programs. J Pediatr Gastroenterol Nutr (2008) 1.08
TDP-43 regulates Drosophila neuromuscular junctions growth by modulating Futsch/MAP1B levels and synaptic microtubules organization. PLoS One (2011) 1.07
Misregulation of human sortilin splicing leads to the generation of a nonfunctional progranulin receptor. Proc Natl Acad Sci U S A (2012) 1.07
Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B). Am J Med Genet A (2004) 1.07
Assessment of oxidative stress in patients with sickle cell disease: The glutathione system and the oxidant-antioxidant status. Blood Cells Mol Dis (2011) 1.04
Brain-specific promoter and polyadenylation sites of the beta-adducin pre-mRNA generate an unusually long 3'-UTR. Nucleic Acids Res (2006) 1.02
The role of TDP-43 in the pathogenesis of ALS and FTLD. Biochem Soc Trans (2013) 1.01
HnRNP A1 controls a splicing regulatory circuit promoting mesenchymal-to-epithelial transition. Nucleic Acids Res (2013) 1.00
TDP-43: new aspects of autoregulation mechanisms in RNA binding proteins and their connection with human disease. FEBS J (2011) 0.98
Successful long-term immunologic reconstitution by allogeneic hematopoietic stem cell transplantation cures patients with autosomal dominant hyper-IgE syndrome. J Allergy Clin Immunol (2010) 0.98
Further delineation of novel 1p36 rearrangements by array-CGH analysis: narrowing the breakpoints and clarifying the "extended" phenotype. Gene (2012) 0.97
The structural integrity of TDP-43 N-terminus is required for efficient aggregate entrapment and consequent loss of protein function. Prion (2015) 0.97
An intronic mutation causes long QT syndrome. J Am Coll Cardiol (2004) 0.97
Functional studies on the ATM intronic splicing processing element. Nucleic Acids Res (2005) 0.97
RNA structure is a key regulatory element in pathological ATM and CFTR pseudoexon inclusion events. Nucleic Acids Res (2007) 0.96
De novo interstitial duplication of the 15q11.2-q14 PWS/AS region of maternal origin: Clinical description, array CGH analysis, and review of the literature. Am J Med Genet A (2010) 0.94
Common mutations in Cuban cystic fibrosis patients. J Cyst Fibros (2008) 0.94
Absence of regulated splicing of fibronectin EDA exon reduces atherosclerosis in mice. Atherosclerosis (2007) 0.93
The erythrocyte skeletons of beta-adducin deficient mice have altered levels of tropomyosin, tropomodulin and EcapZ. FEBS Lett (2004) 0.93
The pathological splicing mutation c.6792C>G in NF1 exon 37 causes a change of tenancy between antagonistic splicing factors. FEBS Lett (2008) 0.92
The effect of vitamin K supplementation on biochemical markers of bone formation in children and adolescents with cystic fibrosis. Eur J Pediatr (2006) 0.92
Mutually exclusive splicing regulates the Nav 1.6 sodium channel function through a combinatorial mechanism that involves three distinct splicing regulatory elements and their ligands. Nucleic Acids Res (2012) 0.90
Can a place of origin of the main cystic fibrosis mutations be identified? Am J Hum Genet (2001) 0.90
Asthma and pulmonary function abnormalities in heterozygotes for cystic fibrosis transmembrane regulator gene mutations. Int J Clin Exp Med (2008) 0.90
Screening for functional sequence variations and mutations in ABCA1. Atherosclerosis (2004) 0.90
Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci. Hum Mutat (2010) 0.90
Early non-invasive detection of fetal Y chromosome sequences in maternal plasma using multiplex PCR. Eur J Obstet Gynecol Reprod Biol (2012) 0.90
The secondary structure of the human immunodeficiency virus type 1 transcript modulates viral splicing and infectivity. J Virol (2008) 0.90