Systematic identification and analysis of exonic splicing silencers.
paper
Cited
Public
Unavailable
- Authors
- Wang, Zefeng; Rolish, Michael E; Yeo, Gene; Tung, Vivian; Mawson, Matthew; Burge, Christopher B
- Year
- 2004
- Journal
- Cell
- PMID
- 15607979
- DOI
- 10.1016/j.cell.2004.11.010
Exonic splicing silencers (ESSs) are cis-regulatory elements that inhibit the use of adjacent splice sites, often contributing to alternative splicing (AS). To systematically identify ESSs, an in vivo splicing reporter system was developed to screen a library of random decanucleotides. The screen yielded 141 ESS decamers, 133 of which were unique. The silencer activity of over a dozen of these sequences was also confirmed in a heterologous exon/intron context and in a second cell type. Of the unique ESS decamers, most could be clustered into groups to yield seven putative ESS motifs, some resembling known motifs bound by hnRNPs H and A1. Potential roles of ESSs in constitutive splicing were explored using an algorithm, ExonScan, which simulates splicing based on known or putative splicing-related motifs. ExonScan and related bioinformatic analyses suggest that these ESS motifs play important roles in suppression of pseudoexons, in splice site definition, and in AS.
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| Reference-informed prediction of alternative splicing and splicing-altering mutations from sequences. | Xu C et al. | β | 2024 | β |
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| Adenine base editor-mediated splicing remodeling activates noncanonical splice sites. | Liu Y et al. | β | 2023 | β |
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| Capture RIC-seq reveals positional rules of PTBP1-associated RNA loops in splicing regulation. | Ye R et al. | β | 2023 | β |
| Characterization of pre-mRNA Splicing Defects Caused by <i>CLCN5</i> and <i>OCRL</i> Mutations and Identification of Novel Variants Associated with Dent Disease. | Mura-Escorche G et al. | β | 2023 | β |
| Deciphering RNA splicing logic with interpretable machine learning. | Liao SE et al. | β | 2023 | β |
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| HNRNPU's multi-tasking is essential for proper cortical development. | Sapir T et al. | β | 2023 | β |
| In silico methods for predicting functional synonymous variants. | Lin BC et al. | β | 2023 | β |
| Integrated analysis of genomic and transcriptomic data for the discovery of splice-associated variants in cancer. | Cotto KC et al. | β | 2023 | β |
| LncRNA BC promotes lung adenocarcinoma progression by modulating IMPAD1 alternative splicing. | Chen QW et al. | β | 2023 | β |
| mRNA splicing is modulated by intronic microRNAs. | Farberov L et al. | β | 2023 | β |
| Phosphorylation mediated regulation of RNA splicing in plants. | Rodriguez Gallo MC et al. | β | 2023 | β |
| The HNRNPF/H RNA binding proteins and disease. | Brownmiller T et al. | β | 2023 | β |
| The human genome contains over a million autonomous exons. | Stepankiw N et al. | β | 2023 | β |
| Alternative Splicing in Human Biology and Disease. | Jutzi D et al. | β | 2022 | β |
| CI-SpliceAI-Improving machine learning predictions of disease causing splicing variants using curated alternative splice sites. | Strauch Y et al. | β | 2022 | β |
| Code inside the codon: The role of synonymous mutations in regulating splicing machinery and its impact on disease. | Sarkar A et al. | β | 2022 | β |
| Combining genetic constraint with predictions of alternative splicing to prioritize deleterious splicing in rare disease studies. | Cormier MJ et al. | β | 2022 | β |
| Exonic splicing code and protein binding sites for calcium. | Pengelly RJ et al. | β | 2022 | β |
| Molecular and genetic dissection of recursive splicing. | Joseph B et al. | β | 2022 | β |
| Multifaceted role of RNA editing in promoting loss-of-function of PODXL in cancer. | Fu T et al. | β | 2022 | β |
| Polymorphic differences within HLA-C alleles contribute to alternatively spliced transcripts lacking exon 5. | Ehlers FAI et al. | β | 2022 | β |
| Protocol to identify host-viral protein interactions between coagulation-related proteins and their genetic variants with SARS-CoV-2 proteins. | Holcomb DD et al. | β | 2022 | β |
| Pseudoexon activation in disease by non-splice site deep intronic sequence variation - wild type pseudoexons constitute high-risk sites in the human genome. | Petersen USS et al. | β | 2022 | β |
| Quantitative prediction of variant effects on alternative splicing in <i>MAPT</i> using endogenous pre-messenger RNA structure probing. | Kumar J et al. | β | 2022 | β |
| Systematic characterization of short intronic splicing-regulatory elements in SMN2 pre-mRNA. | Gao Y et al. | β | 2022 | β |
| Two-Color Fluorescent Reporters for Analysis of Alternative Splicing. | Calarco JA et al. | β | 2022 | β |
| Vulnerable exons, like ACADM exon 5, are highly dependent on maintaining a correct balance between splicing enhancers and silencers. | Holm LL et al. | β | 2022 | β |
| A CRISPR RNA-binding protein screen reveals regulators of RUNX1 isoform generation. | Davis AG et al. | β | 2021 | β |
| Comprehensive characterisation of intronic mis-splicing mutations in human cancers. | Jung H et al. | β | 2021 | β |
| Evidence in disease and non-disease contexts that nonsense mutations cause altered splicing viaΒ motif disruption. | Abrahams L et al. | β | 2021 | β |
| F5-Atlanta: A novel mutation in F5 associated with enhanced East Texas splicing and FV-short production. | Zimowski KL et al. | β | 2021 | β |
| Gene variants of coagulation related proteins that interact with SARS-CoV-2. | Holcomb D et al. | β | 2021 | β |
| Growth Hormone Receptor (Ghr) 6Ο Pseudoexon Activation: A Novel Cause Of Severe Growth Hormone Insensitivity (Ghi). | Cottrell E et al. | β | 2021 | β |
| Hotspot exons are common targets of splicing perturbations. | Glidden DT et al. | β | 2021 | β |
| Identification of Novel and Recurrent Variants in <i>MYO15A</i> in Ashkenazi Jewish Patients With Autosomal Recessive Nonsyndromic Hearing Loss. | Booth KT et al. | β | 2021 | β |
| Improved methods for RNAseq-based alternative splicing analysis. | Halperin RF et al. | β | 2021 | β |
| IntSplice2: Prediction of the Splicing Effects of Intronic Single-Nucleotide Variants Using LightGBM Modeling. | Takeda JI et al. | β | 2021 | β |
| PIF1 helicase promotes break-induced replication in mammalian cells. | Li S et al. | β | 2021 | β |
| QKI is a critical pre-mRNA alternative splicing regulator of cardiac myofibrillogenesis and contractile function. | Chen X et al. | β | 2021 | β |
| Restriction of an intron size en route to endothermy. | KrΓ‘loviΔovΓ‘ J et al. | β | 2021 | β |
| Splicing at the phase-separated nuclear speckle interface: a model. | Liao SE et al. | β | 2021 | β |
| The Emerging Roles of the RNA Binding Protein QKI in Cardiovascular Development and Function. | Chen X et al. | β | 2021 | β |
| Transposon clusters as substrates for aberrant splice-site activation. | Alvarez MEV et al. | β | 2021 | β |
| What's Wrong in a Jump? Prediction and Validation of Splice Site Variants. | Riolo G et al. | β | 2021 | β |
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| Exome sequencing in schizophrenia-affected parent-offspring trios reveals risk conferred by protein-coding de novo mutations. | Howrigan DP et al. | β | 2020 | β |
| Phytochrome Coordinates with a hnRNP to Regulate Alternative Splicing via an Exonic Splicing Silencer. | Lin BY et al. | β | 2020 | β |
| Regulating Divergent Transcriptomes through mRNA Splicing and Its Modulation Using Various Small Compounds. | Fujita KI et al. | β | 2020 | β |
| RNA-Seq approach for accurate characterization of splicing efficiency of yeast introns. | Xia X | β | 2020 | β |
| RNA Splicing Defects in Hypertrophic Cardiomyopathy: Implications for Diagnosis and Therapy. | Ribeiro M et al. | β | 2020 | β |
| Skipping Nonsense to Maintain Function: The Paradigm of <i>BRCA2</i> Exon 12. | Meulemans L et al. | β | 2020 | β |
| Splicing Characteristics of Dystrophin Pseudoexons and Identification of a Novel Pathogenic Intronic Variant in the <i>DMD</i> Gene. | Xie Z et al. | β | 2020 | β |
| Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars. | Canson D et al. | β | 2020 | β |
| Activation of cryptic splice sites in three patients with chronic granulomatous disease. | de Boer M et al. | β | 2019 | β |
| Alternative Splicing Regulatory Networks: Functions, Mechanisms, and Evolution. | Ule J et al. | β | 2019 | β |
| A single-base change at a splice site in Wx-A1 caused incorrect RNA splicing and gene inactivation in a wheat EMS mutant line. | Luo M et al. | β | 2019 | β |
| Characterization of mammalian Lipocalin UTRs in silico: Predictions for their role in post-transcriptional regulation. | Mejias A et al. | β | 2019 | β |
| Characterization of the IVS-II-821 (A>C) (<i>HBB</i>: c.316-30A>C) Mutation in a Ξ²-Thalassemia Phenotype in Iran. | Azimi A et al. | β | 2019 | β |
| Context matters: Regulation of splice donor usage. | Ptok J et al. | β | 2019 | β |
| DMD Open-access Variant Explorer (DOVE): A scalable, open-access, web-based tool to aid in clinical interpretation of genetic variants in the DMD gene. | Bailey M et al. | β | 2019 | β |
| Exon size and sequence conservation improves identification of splice-altering nucleotides. | Movassat M et al. | β | 2019 | β |
| Future directions for high-throughput splicing assays in precision medicine. | Rhine CL et al. | β | 2019 | β |
| Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4. | Fadaie Z et al. | β | 2019 | β |
| Innovative strategies for annotating the "relationSNP" between variants and molecular phenotypes. | Miller JE et al. | β | 2019 | β |
| Predicting Splicing from Primary Sequence with Deep Learning. | Jaganathan K et al. | β | 2019 | β |
| Predicting the change of exon splicing caused by genetic variant using support vector regression. | Chen K et al. | β | 2019 | β |
| Single-Nucleotide Polymorphisms (SNP) Mining and Their Effect on the Tridimensional Protein Structure Prediction in a Set of Immunity-Related Expressed Sequence Tags (EST) in Atlantic Salmon (<i>Salmo salar</i>). | Vallejos-Vidal E et al. | β | 2019 | β |
| Skipping of an exon with a nonsense mutation in the DMD gene is induced by the conversion of a splicing enhancer to a splicing silencer. | Zhu Y et al. | β | 2019 | β |
| Splicing and cancer: Challenges and opportunities. | Coltri PP et al. | β | 2019 | β |
| The RNA-binding protein RBM3 promotes cell proliferation in hepatocellular carcinoma by regulating circular RNA SCD-circRNA 2 production. | Dong W et al. | β | 2019 | β |
| The Transcriptome-wide Landscape and Modalities of EJC Binding in Adult Drosophila. | Obrdlik A et al. | β | 2019 | β |
| Thioflavin T Monitoring of Guanine Quadruplex Formation in the rs689-Dependent INS Intron 1. | Lages A et al. | β | 2019 | β |
| Towards precision medicine: interrogating the human genome to identify drug pathways associated with potentially functional, population-differentiated polymorphisms. | Bachtiar M et al. | β | 2019 | β |
| Whole genome sequencing and rare variant analysis in essential tremor families. | Odgerel Z et al. | β | 2019 | β |
| Alternative splicing in cancers: From aberrant regulation to new therapeutics. | Song X et al. | β | 2018 | β |
| A novel mutation in exon 9 of Cullin 3 gene contributes to aberrant splicing in pseudohypoaldosteronism type II. | Shao L et al. | β | 2018 | β |
| Circular RNA cSMARCA5 inhibits growth and metastasis in hepatocellular carcinoma. | Yu J et al. | β | 2018 | β |
| CRISPR/Cas9-mediated genome editing induces exon skipping by complete or stochastic altering splicing in the migratory locust. | Chen D et al. | β | 2018 | β |
| Exonic splice regulation imposes strong selection at synonymous sites. | Savisaar R et al. | β | 2018 | β |
| Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays. | Fraile-Bethencourt E et al. | β | 2018 | β |
| Immune signatures correlate with L1 retrotransposition in gastrointestinal cancers. | Jung H et al. | β | 2018 | β |
| Integrative transcriptome sequencing reveals extensive alternative trans-splicing and cis-backsplicing in human cells. | Chuang TJ et al. | β | 2018 | β |
| Modeling and Predicting the Activities of Trans-Acting Splicing Factors with Machine Learning. | Mao M et al. | β | 2018 | β |
| Novel CYP2A6 diplotypes identified through next-generation sequencing are associated with in-vitro and in-vivo nicotine metabolism. | Tanner JA et al. | β | 2018 | β |
| Rules and tools to predict the splicing effects of exonic and intronic mutations. | Ohno K et al. | β | 2018 | β |
| SAAMP 2.0: An algorithm to predict genotype-phenotype correlation of lysosomal storage diseases. | Ou L et al. | β | 2018 | β |
| Saturation mutagenesis reveals manifold determinants of exon definition. | Ke S et al. | β | 2018 | β |
| Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease. | Suarez-Artiles L et al. | β | 2018 | β |
| Splicing mutations in human genetic disorders: examples, detection, and confirmation. | Anna A et al. | β | 2018 | β |
| The mechanisms of a mammalian splicing enhancer. | Jobbins AM et al. | β | 2018 | β |
| The RNA-binding protein ROD1/PTBP3 cotranscriptionally defines AID-loading sites to mediate antibody class switch in mammalian genomes. | Chen J et al. | β | 2018 | β |
| A birth of bipartite exon by intragenic deletion. | Nozu K et al. | β | 2017 | β |
| Activation of a cryptic 5' splice site reverses the impact of pathogenic splice site mutations in the spinal muscular atrophy gene. | Singh NN et al. | β | 2017 | β |
| Alternative splicing of U2AF1 reveals a shared repression mechanism for duplicated exons. | Kralovicova J et al. | β | 2017 | β |
| AMPA GluA1-flip targeted oligonucleotide therapy reduces neonatal seizures and hyperexcitability. | Lykens NM et al. | β | 2017 | β |
| A Multilayered Control of the Human <i>Survival Motor Neuron</i> Gene Expression by Alu Elements. | Ottesen EW et al. | β | 2017 | β |
| C-reactive protein and complement factor H polymorphism interaction in advanced exudative age-related macular degeneration. | Soheilian R et al. | β | 2017 | β |
| CRISPR/Cas9-mediated genome editing induces exon skipping by alternative splicing or exon deletion. | Mou H et al. | β | 2017 | β |
| Deep intronic mutations and human disease. | Vaz-Drago R et al. | β | 2017 | β |
| Evidence of selection on splicing-associated loci in human populations and relevance to disease loci mapping. | Gamazon ER et al. | β | 2017 | β |
| Fluorescence Reporter-Based Genome-Wide RNA Interference Screening to Identify Alternative Splicing Regulators. | Misra A et al. | β | 2017 | β |
| Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18. | Fraile-Bethencourt E et al. | β | 2017 | β |
| Hermansky-Pudlak syndrome type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophils. | de Boer M et al. | β | 2017 | β |
| Investigating DNA-, RNA-, and protein-based features as a means to discriminate pathogenic synonymous variants. | Livingstone M et al. | β | 2017 | β |
| In Vitro Modulation of Endogenous Alternative Splicing Using Splice-Switching Antisense Oligonucleotides. | Park JE et al. | β | 2017 | β |
| Mutation in an exonic splicing enhancer site causing chronic granulomatous disease. | de Boer M et al. | β | 2017 | β |
| Mutations of Pre-mRNA Splicing Regulatory Elements: Are Predictions Moving Forward to Clinical Diagnostics? | GrodeckΓ‘ L et al. | β | 2017 | β |
| Pathogenic variants that alter protein code often disrupt splicing. | Soemedi R et al. | β | 2017 | β |
| Ribosomal Proteins Rpl22 and Rpl22l1 Control Morphogenesis by Regulating Pre-mRNA Splicing. | Zhang Y et al. | β | 2017 | β |
| RNA splicing in human disease and in the clinic. | Baralle D et al. | β | 2017 | β |
| Splicing regulation and dysregulation of cholinergic genes expressed at the neuromuscular junction. | Ohno K et al. | β | 2017 | β |
| SR Proteins: Binders, Regulators, and Connectors of RNA. | Jeong S | β | 2017 | β |
| Succession of splicing regulatory elements determines cryptic 5Ξss functionality. | Brillen AL et al. | β | 2017 | β |
| 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. | Fonseca H et al. | β | 2016 | β |
| Are Synonymous Sites in Primates and Rodents Functionally Constrained? | Price N et al. | β | 2016 | β |
| Beta thalassemia in 31,734 cases with HBB gene mutations: Pathogenic and structural analysis of the common mutations; Iran as the crossroads of the Middle East. | Mahdieh N et al. | β | 2016 | β |
| Computational Identification of Tissue-Specific Splicing Regulatory Elements in Human Genes from RNA-Seq Data. | Badr E et al. | β | 2016 | β |
| De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia. | Takata A et al. | β | 2016 | β |
| Fluorescent Protein-Based Quantification of Alternative Splicing of a Target Cassette Exon in Mammalian Cells. | Gurskaya NG et al. | β | 2016 | β |
| Genomic structure and expression of the human serotonin 2A receptor gene (HTR2A) locus: identification of novel HTR2A and antisense (HTR2A-AS1) exons. | Ruble CL et al. | β | 2016 | β |
| High-throughput discovery of post-transcriptional cis-regulatory elements. | Wissink EM et al. | β | 2016 | β |
| Intron gain by tandem genomic duplication: a novel case in a potato gene encoding RNA-dependent RNA polymerase. | Ma MY et al. | β | 2016 | β |
| IntSplice: prediction of the splicing consequences of intronic single-nucleotide variations in the human genome. | Shibata A et al. | β | 2016 | β |
| Investigating the CFH Gene Polymorphisms as a Risk Factor for Age-related Macular Degeneration in an Iranian Population. | Babanejad M et al. | β | 2016 | β |
| Methionyl-tRNA Formyltransferase (MTFMT) Deficiency Mimicking Acquired Demyelinating Disease. | Pena JA et al. | β | 2016 | β |
| Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function. | Tajnik M et al. | β | 2016 | β |
| RNA Sequence Context Effects Measured InΒ Vitro Predict InΒ Vivo Protein Binding and Regulation. | Taliaferro JM et al. | β | 2016 | β |
| RNA structure replaces the need for U2AF2 in splicing. | Lin CL et al. | β | 2016 | β |
| Serine/Arginine-Rich Splicing Factor 3 and Heterogeneous Nuclear Ribonucleoprotein A1 Regulate Alternative RNA Splicing and Gene Expression of Human Papillomavirus 18 through Two Functionally Distinguishable cis Elements. | Ajiro M et al. | β | 2016 | β |
| Sodium Butyrate and Valproic Acid as Splicing Restoring Agents in Erythroid Cells of Ξ²-Thalassemic Patients. | Shekari Khaniani M et al. | β | 2016 | β |
| The Mouse-Specific Splice Variant mRAGE_v4 Encodes a Membrane-Bound RAGE That Is Resistant to Shedding and Does Not Contribute to the Production of Soluble RAGE. | Di Maggio S et al. | β | 2016 | β |
| Variation Interpretation Predictors: Principles, Types, Performance, and Choice. | Niroula A et al. | β | 2016 | β |
| Weak D alleles in Japanese: a c.960G>A silent mutation in exon 7 of the RHD gene that affects D expression. | Ogasawara K et al. | β | 2016 | β |
| Ameliorating pathogenesis by removing an exon containing a missense mutation: a potential exon-skipping therapy for laminopathies. | Scharner J et al. | β | 2015 | β |
| Association of Genetic Variants with Polypoidal Choroidal Vasculopathy: A Systematic Review and Updated Meta-analysis. | Ma L et al. | β | 2015 | β |
| Case-control genome-wide association study of persistent attention-deficit hyperactivity disorder identifies FBXO33 as a novel susceptibility gene for the disorder. | SΓ‘nchez-Mora C et al. | β | 2015 | β |
| Comparative study reveals better far-red fluorescent protein for whole body imaging. | Luker KE et al. | β | 2015 | β |
| CoSREM: a graph mining algorithm for the discovery of combinatorial splicing regulatory elements. | Badr E et al. | β | 2015 | β |
| Coupling and coordination in gene expression processes with pre-mRNA splicing. | Pan K et al. | β | 2015 | β |
| Decoding mechanisms by which silent codon changes influence protein biogenesis and function. | Bali V et al. | β | 2015 | β |
| Global Promotion of Alternative Internal Exon Usage by mRNA 3' End Formation Factors. | Misra A et al. | β | 2015 | β |
| Intron retention is a widespread mechanism of tumor-suppressor inactivation. | Jung H et al. | β | 2015 | β |
| Isolation and characterization of novel RECK tumor suppressor gene splice variants. | Trombetta-Lima M et al. | β | 2015 | β |
| JAK2 exon 14 skipping in patients with primary myelofibrosis: a minor splice variant modulated by the JAK2-V617F allele burden. | Catarsi P et al. | β | 2015 | β |
| Learning the sequence determinants of alternative splicing from millions of random sequences. | Rosenberg AB et al. | β | 2015 | β |
| Mechanisms and Regulation of Alternative Pre-mRNA Splicing. | Lee Y et al. | β | 2015 | β |
| Medaka vasa gene has an exonic enhancer for germline expression. | Li M et al. | β | 2015 | β |
| Non-coding VMA21 deletions cause X-linked myopathy with excessive autophagy. | Ruggieri A et al. | β | 2015 | β |
| P-coumaric acid regulates exon 12 splicing of the ATP7B gene by modulating hnRNP A1 protein expressions. | Lin YJ et al. | β | 2015 | β |
| RBFOX and PTBP1 proteins regulate the alternative splicing of micro-exons in human brain transcripts. | Li YI et al. | β | 2015 | β |
| Rethinking gene regulatory networks in light of alternative splicing, intrinsically disordered protein domains, and post-translational modifications. | Niklas KJ et al. | β | 2015 | β |
| RNA splicing regulated by RBFOX1 is essential for cardiac function in zebrafish. | Frese KS et al. | β | 2015 | β |
| SnoVectors for nuclear expression of RNA. | Yin QF et al. | β | 2015 | β |
| Splicing defects caused by exonic mutations in PKD1 as a new mechanism of pathogenesis in autosomal dominant polycystic kidney disease. | Claverie-Martin F et al. | β | 2015 | β |
| Splicing factor SRSF1 negatively regulates alternative splicing of MDM2 under damage. | Comiskey DF et al. | β | 2015 | β |
| The role of short RNA loops in recognition of a single-hairpin exon derived from a mammalian-wide interspersed repeat. | Kralovicova J et al. | β | 2015 | β |
| TILLING mutants of durum wheat result in a high amylose phenotype and provide information on alternative splicing mechanisms. | Sestili F et al. | β | 2015 | β |
| Unexpected selection to retain high GC content and splicing enhancers within exons of multiexonic lncRNA loci. | Haerty W et al. | β | 2015 | β |
| A bioinformatic and computational study of myosin phosphatase subunit diversity. | Dippold RP et al. | β | 2014 | β |
| Absence of an intron splicing silencer in porcine Smn1 intron 7 confers immunity to the exon skipping mutation in human SMN2. | Doktor TK et al. | β | 2014 | β |
| A comprehensive survey of non-canonical splice sites in the human transcriptome. | Parada GE et al. | β | 2014 | β |
| A day in the life of the spliceosome. | Matera AG et al. | β | 2014 | β |
| An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. | Brownstein CA et al. | β | 2014 | β |
| Associations of VEGF-C genetic polymorphisms with urothelial cell carcinoma susceptibility differ between smokers and non-smokers in Taiwan. | Tung MC et al. | β | 2014 | β |
| Biochemical characterization of pathogenic mutations in human mitochondrial methionyl-tRNA formyltransferase. | Sinha A et al. | β | 2014 | β |
| Comparative analyses between retained introns and constitutively spliced introns in Arabidopsis thaliana using random forest and support vector machine. | Mao R et al. | β | 2014 | β |
| Complementary sequence-mediated exon circularization. | Zhang XO et al. | β | 2014 | β |
| Context-dependent control of alternative splicing by RNA-binding proteins. | Fu XD et al. | β | 2014 | β |
| Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome. | Lynch DC et al. | β | 2014 | β |
| Evolutionarily emerged G tracts between the polypyrimidine tract and 3' AG are splicing silencers enriched in genes involved in cancer. | Sohail M et al. | β | 2014 | β |
| Exon first nucleotide mutations in splicing: evaluation of in silico prediction tools. | GrodeckΓ‘ L et al. | β | 2014 | β |
| Exonic splicing signals impose constraints upon the evolution of enzymatic activity. | Falanga A et al. | β | 2014 | β |
| Exon identity crisis: disease-causing mutations that disrupt the splicing code. | Sterne-Weiler T et al. | β | 2014 | β |
| Exposing synonymous mutations. | Hunt RC et al. | β | 2014 | β |
| Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing. | Xu W et al. | β | 2014 | β |
| Genetic variation and RNA binding proteins: tools and techniques to detect functional polymorphisms. | Soemedi R et al. | β | 2014 | β |
| Genomic analysis of RNA localization. | Taliaferro JM et al. | β | 2014 | β |
| Genomic HEXploring allows landscaping of novel potential splicing regulatory elements. | Erkelenz S et al. | β | 2014 | β |
| Genomics of alternative splicing: evolution, development and pathophysiology. | Gamazon ER et al. | β | 2014 | β |
| Identifying splicing regulatory elements with de Bruijn graphs. | Badr E et al. | β | 2014 | β |
| MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing. | Mort M et al. | β | 2014 | β |
| Pre-mRNA splicing is facilitated by an optimal RNA polymerase II elongation rate. | Fong N et al. | β | 2014 | β |
| Primary immunodeficiency caused by an exonized retroposed gene copy inserted in the CYBB gene. | de Boer M et al. | β | 2014 | β |
| Role of VEGF-C gene polymorphisms in susceptibility to hepatocellular carcinoma and its pathological development. | Hsieh MC et al. | β | 2014 | β |
| Synonymous mutations frequently act as driver mutations in human cancers. | Supek F et al. | β | 2014 | β |
| Systematical identification of splicing regulatory cis-elements and cognate trans-factors. | Wang Y et al. | β | 2014 | β |
| The effect of the common c.2299delG mutation in USH2A on RNA splicing. | Lenassi E et al. | β | 2014 | β |
| The splicing activator DAZAP1 integrates splicing control into MEK/Erk-regulated cell proliferation and migration. | Choudhury R et al. | β | 2014 | β |
| Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants. | Gardner JC et al. | β | 2014 | β |
| Transcriptome-wide modulation of splicing by the exon junction complex. | Wang Z et al. | β | 2014 | β |
| Unraveling patterns of site-to-site synonymous rates variation and associated gene properties of protein domains and families. | Dimitrieva S et al. | β | 2014 | β |
| When a mid-intronic variation of DMD gene creates an ESE site. | Trabelsi M et al. | β | 2014 | β |
| A biophysical model for identifying splicing regulatory elements and their interactions. | Wen J et al. | β | 2013 | β |
| A compensatory effect upon splicing results in normal function of the CYP2A6*14 allele. | Bloom AJ et al. | β | 2013 | β |
| A complex network of factors with overlapping affinities represses splicing through intronic elements. | Wang Y et al. | β | 2013 | β |
| A deep intronic mutation in the ankyrin-1 gene causes diminished protein expression resulting in hemolytic anemia in mice. | Huang H et al. | β | 2013 | β |
| Alteration of introns in a hyaluronan synthase 1 (HAS1) minigene convert Pre-mRNA [corrected] splicing to the aberrant pattern in multiple myeloma (MM): MM patients harbor similar changes. | Kriangkum J et al. | β | 2013 | β |
| Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency. | Puisac B et al. | β | 2013 | β |
| Association of intronic sequence variant in the gene encoding spleen tyrosine kinase with susceptibility to vascular dementia. | Kim Y et al. | β | 2013 | β |
| Association of variants of ABCB11 with transient neonatal cholestasis. | Liu LY et al. | β | 2013 | β |
| A synonymous polymorphic variation in ACADM exon 11 affects splicing efficiency and may affect fatty acid oxidation. | Bruun GH et al. | β | 2013 | β |
| Biallelic DICER1 mutations occur in Wilms tumours. | Wu MK et al. | β | 2013 | β |
| Bim polymorphisms: influence on function and response to treatment in children with acute lymphoblastic leukemia. | GagnΓ© V et al. | β | 2013 | β |
| Candidate gene association studies: a comprehensive guide to useful in silico tools. | Patnala R et al. | β | 2013 | β |
| Circular intronic long noncoding RNAs. | Zhang Y et al. | β | 2013 | β |
| Clinical and molecular study of a new form of hereditary myotonia in Murrah water buffalo. | Borges AS et al. | β | 2013 | β |
| Coding region of adiponectin contains a silent intron reactivated by the adjacent intervening sequence of vector. | Liu TY et al. | β | 2013 | β |
| Combined computational-experimental analyses of CFTR exon strength uncover predictability of exon-skipping level. | Aissat A et al. | β | 2013 | β |
| Exonal elements and factors involved in the depolarization-induced alternative splicing of neurexin 2. | Rozic G et al. | β | 2013 | β |
| ExonSuite: algorithmically optimizing alternative gene splicing for the PUF proteins. | Ustek D et al. | β | 2013 | β |
| Far upstream element-binding protein 1 and RNA secondary structure both mediate second-step splicing repression. | Li H et al. | β | 2013 | β |
| HnRNPH1/H2, U1 snRNP, and U11 snRNP cooperate to regulate the stability of the U11-48K pre-mRNA. | Turunen JJ et al. | β | 2013 | β |
| Identification of deleterious synonymous variants in human genomes. | Buske OJ et al. | β | 2013 | β |
| Impact of VEGF-C gene polymorphisms and environmental factors on oral cancer susceptibility in Taiwan. | Chien MH et al. | β | 2013 | β |
| Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes. | Juan-Mateu J et al. | β | 2013 | β |
| Missense mutations of <i>MLH1</i> and <i>MSH2</i> genes detected in patients with gastrointestinal cancer are associated with exonic splicing enhancers and silencers. | Zhu M et al. | β | 2013 | β |
| Multiple tandem splicing silencer elements suppress aberrant splicing within the long exon 26 of the human Apolipoprotein B gene. | Srirangalingam U et al. | β | 2013 | β |
| Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients. | Kamenarova K et al. | β | 2013 | β |
| Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. | Ceyhan-Birsoy O et al. | β | 2013 | β |
| Restoration of the normal splicing pattern of the PLP1 gene by means of an antisense oligonucleotide directed against an exonic mutation. | Regis S et al. | β | 2013 | β |
| Sounds of silence: synonymous nucleotides as a key to biological regulation and complexity. | Shabalina SA et al. | β | 2013 | β |
| Targeted re-sequencing identified rs3106189 at the 5' UTR of TAPBP and rs1052918 at the 3' UTR of TCF3 to be associated with the overall survival of colorectal cancer patients. | Shao J et al. | β | 2013 | β |
| Testing for natural selection in human exonic splicing regulators associated with evolutionary rate shifts. | Ramalho RF et al. | β | 2013 | β |
| The high kinetic stability of a G-quadruplex limits hnRNP F qRRM3 binding to G-tract RNA. | Samatanga B et al. | β | 2013 | β |
| Alternative splicing of RNA triplets is often regulated and accelerates proteome evolution. | Bradley RK et al. | β | 2012 | β |
| Analysis of alternative splicing of cassette exons at single-cell level using two fluorescent proteins. | Gurskaya NG et al. | β | 2012 | β |
| Association of the intronic polymorphism rs891512 (G24943A) of the endothelial nitric oxide synthase gene with hypertension in Chilean type 2 diabetes patients. | Seelenfreund D et al. | β | 2012 | β |
| A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements. | Fortugno P et al. | β | 2012 | β |
| Bioinformatics and mutations leading to exon skipping. | Desmet FO et al. | β | 2012 | β |
| Categorization of 77 dystrophin exons into 5 groups by a decision tree using indexes of splicing regulatory factors as decision markers. | Malueka RG et al. | β | 2012 | β |
| Characterization of coding synonymous and non-synonymous variants in ADAMTS13 using ex vivo and in silico approaches. | Edwards NC et al. | β | 2012 | β |
| Conservation and regulation of alternative splicing by dynamic inter- and intra-intron base pairings in Lepidoptera 14-3-3ΞΎ pre-mRNAs. | Yang Y et al. | β | 2012 | β |
| Deep sequencing of subcellular RNA fractions shows splicing to be predominantly co-transcriptional in the human genome but inefficient for lncRNAs. | Tilgner H et al. | β | 2012 | β |
| DNA diagnostics and exon skipping. | Srirangalingam U et al. | β | 2012 | β |
| Evolutionary rate of human tissue-specific genes are related with transposable element insertions. | Jin P et al. | β | 2012 | β |
| Evolution of SR protein and hnRNP splicing regulatory factors. | Busch A et al. | β | 2012 | β |
| Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay. | Biswas K et al. | β | 2012 | β |
| Global profiling of alternative splicing events and gene expression regulated by hnRNPH/F. | Wang E et al. | β | 2012 | β |
| Intronic splicing enhancers, cognate splicing factors and context-dependent regulation rules. | Wang Y et al. | β | 2012 | β |
| Long noncoding RNAs with snoRNA ends. | Yin QF et al. | β | 2012 | β |
| Long-range PCR and next-generation sequencing of BRCA1 and BRCA2 in breast cancer. | Ozcelik H et al. | β | 2012 | β |
| Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype. | Pierson CR et al. | β | 2012 | β |
| Mutations in CIZ1 cause adult onset primary cervical dystonia. | Xiao J et al. | β | 2012 | β |
| Nuclear matrix factor hnRNP U/SAF-A exerts a global control of alternative splicing by regulating U2 snRNP maturation. | Xiao R et al. | β | 2012 | β |
| Regulatory variations in the era of next-generation sequencing: implications for clinical molecular diagnostics. | Jarinova O et al. | β | 2012 | β |
| Sequencing of rhesus macaque Y chromosome clarifies origins and evolution of the DAZ (Deleted in AZoospermia) genes. | Hughes JF et al. | β | 2012 | β |
| Splicing of internal large exons is defined by novel cis-acting sequence elements. | Bolisetty MT et al. | β | 2012 | β |
| UG repeats/TDP-43 interactions near 5' splice sites exert unpredictable effects on splicing modulation. | Passoni M et al. | β | 2012 | β |
| VarioWatch: providing large-scale and comprehensive annotations on human genomic variants in the next generation sequencing era. | Cheng YC et al. | β | 2012 | β |
| VERSE: a varying effect regression for splicing elements discovery. | Zhang J et al. | β | 2012 | β |
| A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay. | Biswas K et al. | β | 2011 | β |
| Activation of Src and transformation by an RPTPΞ± splice mutant found in human tumours. | Huang J et al. | β | 2011 | β |
| AG-dependent 3'-splice sites are predisposed to aberrant splicing due to a mutation at the first nucleotide of an exon. | Fu Y et al. | β | 2011 | β |
| Alternative splicing and genetic diversity: silencers are more frequently modified by SNVs associated with alternative exon/intron borders. | de Souza JE et al. | β | 2011 | β |
| AMPD1 gene mutations are associated with obesity and diabetes in Polish patients with cardiovascular diseases. | Safranow K et al. | β | 2011 | β |
| A novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe kyphoscoliosis and eye involvement. | Symoens S et al. | β | 2011 | β |
| Association between regulator of G protein signaling 9-2 and body weight. | Waugh JL et al. | β | 2011 | β |
| Bioinformatic analyses identifies novel protein-coding pharmacogenomic markers associated with paclitaxel sensitivity in NCI60 cancer cell lines. | Eng L et al. | β | 2011 | β |
| Cataloguing functionally relevant polymorphisms in gene DNA ligase I: a computational approach. | Singh AA et al. | β | 2011 | β |
| [Coding region of far-red fluorescent protein katushka contains a strong donor splice site]. | Gurskaia NG et al. | β | 2011 | β |
| Compensatory signals associated with the activation of human GC 5' splice sites. | Kralovicova J et al. | β | 2011 | β |
| Computational detection and functional analysis of human tissue-specific A-to-I RNA editing. | He T et al. | β | 2011 | β |
| Context-dependent robustness to 5' splice site polymorphisms in human populations. | Lu ZX et al. | β | 2011 | β |
| DBASS3 and DBASS5: databases of aberrant 3'- and 5'-splice sites. | Buratti E et al. | β | 2011 | β |
| Drosophila Dynein intermediate chain gene, Dic61B, is required for spermatogenesis. | Fatima R | β | 2011 | β |
| Endogenous oncogenic Nras mutation initiates hematopoietic malignancies in a dose- and cell type-dependent manner. | Wang J et al. | β | 2011 | β |
| Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy. | BroΕΎkovΓ‘ D et al. | β | 2011 | β |
| hnRNP F directs formation of an exon 4 minus variant of tumor-associated NADH oxidase (ENOX2). | Tang X et al. | β | 2011 | β |
| Hyperuricemia cosegregating with osteogenesis imperfecta is associated with a mutation in GPATCH8. | Kaneko H et al. | β | 2011 | β |
| Identification and experimental validation of splicing regulatory elements in Drosophila melanogaster reveals functionally conserved splicing enhancers in metazoans. | Brooks AN et al. | β | 2011 | β |
| Long conserved fragments upstream of Mammalian polyadenylation sites. | Ho ES et al. | β | 2011 | β |
| Loss of exon identity is a common mechanism of human inherited disease. | Sterne-Weiler T et al. | β | 2011 | β |
| More than a splicing code: integrating the role of RNA, chromatin and non-coding RNA in alternative splicing regulation. | Luco RF et al. | β | 2011 | β |
| Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. | Tucker EJ et al. | β | 2011 | β |
| Networking in a global world: establishing functional connections between neural splicing regulators and their target transcripts. | Calarco JA et al. | β | 2011 | β |
| Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6. | Raponi M et al. | β | 2011 | β |
| p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study. | RenΓ© C et al. | β | 2011 | β |
| Quaking regulates Hnrnpa1 expression through its 3' UTR in oligodendrocyte precursor cells. | Zearfoss NR et al. | β | 2011 | β |
| Quantitative evaluation of all hexamers as exonic splicing elements. | Ke S et al. | β | 2011 | β |
| Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes. | Lim KH et al. | β | 2011 | β |
| Advances in translational bioinformatics: computational approaches for the hunting of disease genes. | Kann MG | β | 2010 | β |
| A method of predicting changes in human gene splicing induced by genetic variants in context of cis-acting elements. | Churbanov A et al. | β | 2010 | β |
| An ancient mechanism for splicing control: U11 snRNP as an activator of alternative splicing. | Verbeeren J et al. | β | 2010 | β |
| Association pattern mining of intron retention events in human based on hybrid learning machine. | Hu HJ et al. | β | 2010 | β |
| A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1. | Davidson AE et al. | β | 2010 | β |
| Comparative in silico analyses and experimental validation of novel splice site and missense mutations in the genes MLH1 and MSH2. | Betz B et al. | β | 2010 | β |
| Computational identification of tissue-specific alternative splicing elements in mouse genes from RNA-Seq. | Wen J et al. | β | 2010 | β |
| Evolution of alternative splicing in primate brain transcriptomes. | Lin L et al. | β | 2010 | β |
| Expression and regulation of a low-density lipoprotein receptor exon 12 splice variant. | Ling IF et al. | β | 2010 | β |
| Expression of linear and novel circular forms of an INK4/ARF-associated non-coding RNA correlates with atherosclerosis risk. | Burd CE et al. | β | 2010 | β |
| Functional properties and evolutionary splicing constraints on a composite exonic regulatory element of splicing in CFTR exon 12. | Haque A et al. | β | 2010 | β |
| Functional selection and systematic analysis of intronic splicing elements identify active sequence motifs and associated splicing factors. | Culler SJ et al. | β | 2010 | β |
| Genome-wide association between branch point properties and alternative splicing. | Corvelo A et al. | β | 2010 | β |
| Genome-wide association studies--data generation, storage, interpretation, and bioinformatics. | Pare G | β | 2010 | β |
| Genomic features defining exonic variants that modulate splicing. | Woolfe A et al. | β | 2010 | β |
| How do RNA sequence, DNA sequence, and chromatin properties regulate splicing? | Ringrose L | β | 2010 | β |
| Identification of novel SNPs by next-generation sequencing of the genomic region containing the APC gene in colorectal cancer patients in China. | Cheng Y et al. | β | 2010 | β |
| Intronic motif pairs cooperate across exons to promote pre-mRNA splicing. | Ke S et al. | β | 2010 | β |
| Lost in the space of bioinformatic tools: a constantly updated survival guide for genetic epidemiology. The GenEpi Toolbox. | Coassin S et al. | β | 2010 | β |
| Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B. | Wan L et al. | β | 2010 | β |
| Noisy splicing drives mRNA isoform diversity in human cells. | Pickrell JK et al. | β | 2010 | β |
| Regulation of splicing enhancer activities by RNA secondary structures. | Liu W et al. | β | 2010 | β |
| Role of SFRS13A in low-density lipoprotein receptor splicing. | Ling IF et al. | β | 2010 | β |
| SFmap: a web server for motif analysis and prediction of splicing factor binding sites. | Paz I et al. | β | 2010 | β |
| SPOT: a web-based tool for using biological databases to prioritize SNPs after a genome-wide association study. | Saccone SF et al. | β | 2010 | β |
| Statistical analysis strategies for association studies involving rare variants. | Bansal V et al. | β | 2010 | β |
| Stoichiometry of a regulatory splicing complex revealed by single-molecule analyses. | Cherny D et al. | β | 2010 | β |
| Structural basis of G-tract recognition and encaging by hnRNP F quasi-RRMs. | Dominguez C et al. | β | 2010 | β |
| Support for a bipolar affective disorder susceptibility locus on chromosome 12q24.3. | ButtenschΓΈn HN et al. | β | 2010 | β |
| Systems analysis of alternative splicing and its regulation. | Xiao X et al. | β | 2010 | β |
| 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. | Homolova K et al. | β | 2010 | β |
| The intronic splicing code: multiple factors involved in ATM pseudoexon definition. | Dhir A et al. | β | 2010 | β |
| Transferrin receptor-1 gene polymorphisms are associated with type 2 diabetes. | FernΓ‘ndez-Real JM et al. | β | 2010 | β |
| Transposable elements in disease-associated cryptic exons. | Vorechovsky I | β | 2010 | β |
| Visualization and genetic analysis of alternative splicing regulation in vivo using fluorescence reporters in transgenic Caenorhabditis elegans. | Kuroyanagi H et al. | β | 2010 | β |
| Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping. | Divina P et al. | β | 2009 | β |
| A computational approach for genome-wide mapping of splicing factor binding sites. | Akerman M et al. | β | 2009 | β |
| Alternative splicing: regulation without regulators. | Graveley BR | β | 2009 | β |
| Alu exonization events reveal features required for precise recognition of exons by the splicing machinery. | Schwartz S et al. | β | 2009 | β |
| Antagonistic SR proteins regulate alternative splicing of tumor-related Rac1b downstream of the PI3-kinase and Wnt pathways. | GonΓ§alves V et al. | β | 2009 | β |
| Biased chromatin signatures around polyadenylation sites and exons. | Spies N et al. | β | 2009 | β |
| Chromatin organization marks exon-intron structure. | Schwartz S et al. | β | 2009 | β |
| Coding variant I62V in the complement factor H gene is strongly associated with polypoidal choroidal vasculopathy. | Kondo N et al. | β | 2009 | β |
| COMIT: identification of noncoding motifs under selection in coding sequences. | Kural D et al. | β | 2009 | β |
| Comparative component analysis of exons with different splicing frequencies. | Song S et al. | β | 2009 | β |
| Computational prediction of splicing regulatory elements shared by Tetrapoda organisms. | Churbanov A et al. | β | 2009 | β |
| Discovery and annotation of functional chromatin signatures in the human genome. | Hon G et al. | β | 2009 | β |
| Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail. | Meili D et al. | β | 2009 | β |
| Divergence of exonic splicing elements after gene duplication and the impact on gene structures. | Zhang Z et al. | β | 2009 | β |
| Effects of a synonymous variant in exon 9 of the CD44 gene on pre-mRNA splicing in a family with osteoporosis. | Vidal C et al. | β | 2009 | β |
| Evolution of alternative splicing regulation: changes in predicted exonic splicing regulators are not associated with changes in alternative splicing levels in primates. | Irimia M et al. | β | 2009 | β |
| Frameworks for programming biological function through RNA parts and devices. | Win MN et al. | β | 2009 | β |
| Genome-wide analysis of PTB-RNA interactions reveals a strategy used by the general splicing repressor to modulate exon inclusion or skipping. | Xue Y et al. | β | 2009 | β |
| Genome-wide prediction of cis-acting RNA elements regulating tissue-specific pre-mRNA alternative splicing. | Wang X et al. | β | 2009 | β |
| Guidelines for antisense oligonucleotide design and insight into splice-modulating mechanisms. | Aartsma-Rus A et al. | β | 2009 | β |
| Human Splicing Finder: an online bioinformatics tool to predict splicing signals. | Desmet FO et al. | β | 2009 | β |
| Identification of an exonic splicing silencer in exon 6A of the human VEGF gene. | Wang R et al. | β | 2009 | β |
| Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs. | Vreeswijk MP et al. | β | 2009 | β |
| In vivo and in vitro splicing assay of SLC12A1 in an antenatal salt-losing tubulopathy patient with an intronic mutation. | Nozu K et al. | β | 2009 | β |
| In vivo selection of kinase-responsive RNA elements controlling alternative splicing. | Li H et al. | β | 2009 | β |
| Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing. | Byrne JA et al. | β | 2009 | β |
| Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature. | Nemos C et al. | β | 2009 | β |
| Next generation tools for the annotation of human SNPs. | Karchin R | β | 2009 | β |
| Predicting functional alternative splicing by measuring RNA selection pressure from multigenome alignments. | Lu H et al. | β | 2009 | β |
| Predicting potentially functional SNPs in drug-response genes. | Pang GS et al. | β | 2009 | β |
| Regulation of mammalian pre-mRNA splicing. | Hui J | β | 2009 | β |
| SNPinfo: integrating GWAS and candidate gene information into functional SNP selection for genetic association studies. | Xu Z et al. | β | 2009 | β |
| Splice site strength-dependent activity and genetic buffering by poly-G runs. | Xiao X et al. | β | 2009 | β |
| Splicing, cis genetic variation and disease. | Jensen CJ et al. | β | 2009 | β |
| SROOGLE: webserver for integrative, user-friendly visualization of splicing signals. | Schwartz S et al. | β | 2009 | β |
| Systematic evaluation of the effect of common SNPs on pre-mRNA splicing. | ElSharawy A et al. | β | 2009 | β |
| Variants within protectin (CD59) and CD44 genes linked to an inherited haplotype in a family with coeliac disease. | Vidal C et al. | β | 2009 | β |
| Ab initio identification of functionally interacting pairs of cis-regulatory elements. | Friedman BA et al. | β | 2008 | β |
| Altered serotonin 2C receptor RNA splicing in suicide: association with editing. | Dracheva S et al. | β | 2008 | β |
| Alternative splicing of Alu exons--two arms are better than one. | Gal-Mark N et al. | β | 2008 | β |
| Caffeine regulates alternative splicing in a subset of cancer-associated genes: a role for SC35. | Shi J et al. | β | 2008 | β |
| Calculation of splicing potential from the Alternative Splicing Mutation Database. | Bechtel JM et al. | β | 2008 | β |
| Combinatorial control of exon recognition. | Hertel KJ | β | 2008 | β |
| Comparative analysis of sequence features involved in the recognition of tandem splice sites. | Bortfeldt R et al. | β | 2008 | β |
| Computational analysis of splicing errors and mutations in human transcripts. | Kurmangaliyev YZ et al. | β | 2008 | β |
| Dynamic regulation of alternative splicing by silencers that modulate 5' splice site competition. | Yu Y et al. | β | 2008 | β |
| Dystrophin nonsense mutations can generate alternative rescue transcripts in lymphocytes. | Nishiyama A et al. | β | 2008 | β |
| Epstein-Barr virus BART microRNAs are produced from a large intron prior to splicing. | Edwards RH et al. | β | 2008 | β |
| Exon creation and establishment in human genes. | Corvelo A et al. | β | 2008 | β |
| Expression of spliced oncogenic Ikaros isoforms in Philadelphia-positive acute lymphoblastic leukemia patients treated with tyrosine kinase inhibitors: implications for a new mechanism of resistance. | Iacobucci I et al. | β | 2008 | β |
| Functional analysis of novel SNPs and mutations in human and mouse genomes. | Liu CK et al. | β | 2008 | β |
| Genes in glucose metabolism and association with spina bifida. | Davidson CM et al. | β | 2008 | β |
| Genome-wide analyses of alternative splicing in plants: opportunities and challenges. | Barbazuk WB et al. | β | 2008 | β |
| Genome-wide analysis of alternative pre-mRNA splicing. | Ben-Dov C et al. | β | 2008 | β |
| Global analysis of mRNA splicing. | Moore MJ et al. | β | 2008 | β |
| hnRNP H and hnRNP F complex with Fox2 to silence fibroblast growth factor receptor 2 exon IIIc. | Mauger DM et al. | β | 2008 | β |
| Intronic Alus influence alternative splicing. | Lev-Maor G et al. | β | 2008 | β |
| Joint annotation of coding and non-coding single nucleotide polymorphisms and mutations in the SNPeffect and PupaSuite databases. | Reumers J et al. | β | 2008 | β |
| One parameter to describe the mechanism of splice sites competition. | Yang W et al. | β | 2008 | β |
| Polypyrimidine tract binding protein regulates alternative splicing of an aberrant pseudoexon in NF1. | Raponi M et al. | β | 2008 | β |
| Positive selection acting on splicing motifs reflects compensatory evolution. | Ke S et al. | β | 2008 | β |
| RNA landscape of evolution for optimal exon and intron discrimination. | Zhang C et al. | β | 2008 | β |
| Splicing regulation: from a parts list of regulatory elements to an integrated splicing code. | Wang Z et al. | β | 2008 | β |
| Strategies for identifying RNA splicing regulatory motifs and predicting alternative splicing events. | Holste D et al. | β | 2008 | β |
| The Alternative Splicing Mutation Database: a hub for investigations of alternative splicing using mutational evidence. | Bechtel JM et al. | β | 2008 | β |
| A comprehensive computational characterization of conserved mammalian intronic sequences reveals conserved motifs associated with constitutive and alternative splicing. | Voelker RB et al. | β | 2007 | β |
| A computational survey of candidate exonic splicing enhancer motifs in the model plant Arabidopsis thaliana. | Pertea M et al. | β | 2007 | β |
| A correlation with exon expression approach to identify cis-regulatory elements for tissue-specific alternative splicing. | Das D et al. | β | 2007 | β |
| ADAM15 gene structure and differential alternative exon use in human tissues. | Kleino I et al. | β | 2007 | β |
| An intronic element contributes to splicing repression in spinal muscular atrophy. | Kashima T et al. | β | 2007 | β |
| An intronic signal for alternative splicing in the human genome. | Havlioglu N et al. | β | 2007 | β |
| Coevolutionary networks of splicing cis-regulatory elements. | Xiao X et al. | β | 2007 | β |
| Depolarization and CaM kinase IV modulate NMDA receptor splicing through two essential RNA elements. | Lee JA et al. | β | 2007 | β |
| Detecting over-represented motifs in alternatively spliced exons using Gibbs sampling. | Malousi A et al. | β | 2007 | β |
| Discovery and analysis of evolutionarily conserved intronic splicing regulatory elements. | Yeo GW et al. | β | 2007 | β |
| Exonic splicing regulatory elements skew synonymous codon usage near intron-exon boundaries in mammals. | Parmley JL et al. | β | 2007 | β |
| Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X. | Aznarez I et al. | β | 2007 | β |
| Features generated for computational splice-site prediction correspond to functional elements. | Dogan RI et al. | β | 2007 | β |
| Functional analysis of splicing mutations in exon 7 of NF1 gene. | Bottillo I et al. | β | 2007 | β |
| Global control of aberrant splice-site activation by auxiliary splicing sequences: evidence for a gradient in exon and intron definition. | KrΓ‘lovicovΓ‘ J et al. | β | 2007 | β |
| hnRNP proteins and splicing control. | Martinez-Contreras R et al. | β | 2007 | β |
| Mechanistic basis for the pathogenesis of long QT syndrome associated with a common splicing mutation in KCNQ1 gene. | Tsuji K et al. | β | 2007 | β |
| Modulating role of RNA structure in alternative splicing of a critical exon in the spinal muscular atrophy genes. | Singh NN et al. | β | 2007 | β |
| Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy. | BΓ©roud C et al. | β | 2007 | β |
| Pre-mRNA secondary structures influence exon recognition. | Hiller M et al. | β | 2007 | β |
| Pre-spliceosomal binding of U1 small nuclear ribonucleoprotein (RNP) and heterogenous nuclear RNP E1 is associated with suppression of a growth hormone receptor pseudoexon. | Akker SA et al. | β | 2007 | β |
| RNA 1997-2007: a remarkable decade of discovery. | Nilsen TW | β | 2007 | β |
| Searching for splicing motifs. | Chasin LA | β | 2007 | β |
| 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. | Nielsen KB et al. | β | 2007 | β |
| Snap: an integrated SNP annotation platform. | Li S et al. | β | 2007 | β |
| SplicePort--an interactive splice-site analysis tool. | Dogan RI et al. | β | 2007 | β |
| Splicing and the evolution of proteins in mammals. | Parmley JL et al. | β | 2007 | β |
| SR proteins and related factors in alternative splicing. | Lin S et al. | β | 2007 | β |
| SR proteins function in coupling RNAP II transcription to pre-mRNA splicing. | Das R et al. | β | 2007 | β |
| The "alternative" choice of constitutive exons throughout evolution. | Lev-Maor G et al. | β | 2007 | β |
| The emergence of alternative 3' and 5' splice site exons from constitutive exons. | Koren E et al. | β | 2007 | β |
| Ultraconserved elements are associated with homeostatic control of splicing regulators by alternative splicing and nonsense-mediated decay. | Ni JZ et al. | β | 2007 | β |
| Unfolding the mystery of alternative splicing through a unique method of in vivo selection. | Singh RN | β | 2007 | β |
| Weak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomia. | Ibrahim EC et al. | β | 2007 | β |
| A bichromatic fluorescent reporter for cell-based screens of alternative splicing. | Orengo JP et al. | β | 2006 | β |
| Activation of alpha-tropomyosin exon 2 is regulated by the SR protein 9G8 and heterogeneous nuclear ribonucleoproteins H and F. | Crawford JB et al. | β | 2006 | β |
| Alternatively and constitutively spliced exons are subject to different evolutionary forces. | Chen FC et al. | β | 2006 | β |
| Alternative pre-mRNA splicing in Drosophila spliceosomal assembly factor RNP-4F during development. | Fetherson RA et al. | β | 2006 | β |
| Alternative splicing and RNA selection pressure--evolutionary consequences for eukaryotic genomes. | Xing Y et al. | β | 2006 | β |
| Alternative splicing: new insights from global analyses. | Blencowe BJ | β | 2006 | β |
| An apparent pseudo-exon acts both as an alternative exon that leads to nonsense-mediated decay and as a zero-length exon. | Grellscheid SN et al. | β | 2006 | β |
| An exonic splicing silencer is involved in the regulated splicing of glucose 6-phosphate dehydrogenase mRNA. | Szeszel-Fedorowicz W et al. | β | 2006 | β |
| An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers. | Smith PJ et al. | β | 2006 | β |
| An RNA map predicting Nova-dependent splicing regulation. | Ule J et al. | β | 2006 | β |
| Characterization of sequences and mechanisms through which ISE/ISS-3 regulates FGFR2 splicing. | Hovhannisyan RH et al. | β | 2006 | β |
| Comparative analysis identifies exonic splicing regulatory sequences--The complex definition of enhancers and silencers. | Goren A et al. | β | 2006 | β |
| Defective splicing, disease and therapy: searching for master checkpoints in exon definition. | Buratti E et al. | β | 2006 | β |
| Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2. | Cartegni L et al. | β | 2006 | β |
| Evidence for purifying selection against synonymous mutations in mammalian exonic splicing enhancers. | Parmley JL et al. | β | 2006 | β |
| Evidence implicating BRD1 with brain development and susceptibility to both schizophrenia and bipolar affective disorder. | Severinsen JE et al. | β | 2006 | β |
| FASTSNP: an always up-to-date and extendable service for SNP function analysis and prioritization. | Yuan HY et al. | β | 2006 | β |
| Functional coupling of RNAP II transcription to spliceosome assembly. | Das R et al. | β | 2006 | β |
| General and specific functions of exonic splicing silencers in splicing control. | Wang Z et al. | β | 2006 | β |
| Hearing silence: non-neutral evolution at synonymous sites in mammals. | Chamary JV et al. | β | 2006 | β |
| HOLLYWOOD: a comparative relational database of alternative splicing. | Holste D et al. | β | 2006 | β |
| Identification of alternative 5'/3' splice sites based on the mechanism of splice site competition. | Xia H et al. | β | 2006 | β |
| Identification of core promoter modules in Drosophila and their application in accurate transcription start site prediction. | Ohler U | β | 2006 | β |
| Identification of hnRNPs K, L and A2/B1 as candidate proteins involved in the nutritional regulation of mRNA splicing. | Griffith BN et al. | β | 2006 | β |
| Identification of RNA-binding proteins that regulate FGFR2 splicing through the use of sensitive and specific dual color fluorescence minigene assays. | Newman EA et al. | β | 2006 | β |
| Inference of splicing regulatory activities by sequence neighborhood analysis. | Stadler MB et al. | β | 2006 | β |
| Method of predicting splice sites based on signal interactions. | Churbanov A et al. | β | 2006 | β |
| Methods and platforms for the quantification of splice variants' expression. | Bracco L et al. | β | 2006 | β |
| Mild Nijmegen breakage syndrome phenotype due to alternative splicing. | Varon R et al. | β | 2006 | β |
| NMR structure of the three quasi RNA recognition motifs (qRRMs) of human hnRNP F and interaction studies with Bcl-x G-tract RNA: a novel mode of RNA recognition. | Dominguez C et al. | β | 2006 | β |
| Phenotypic consequences of branch point substitutions. | KrΓ‘lovicovΓ‘ J et al. | β | 2006 | β |
| Proteomics of acute myeloid leukaemia: Cytogenetic risk groups differ specifically in their proteome, interactome and post-translational protein modifications. | Balkhi MY et al. | β | 2006 | β |
| Regions of extreme synonymous codon selection in mammalian genes. | Schattner P et al. | β | 2006 | β |
| Regulation of alternative splicing by snoRNAs. | Kishore S et al. | β | 2006 | β |
| Single amino-acid InDel variants generated by alternative tandem splice-donor and -acceptor selection. | Lai CH et al. | β | 2006 | β |
| Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron. | Singh NK et al. | β | 2006 | β |
| Splicing regulation in neurologic disease. | Licatalosi DD et al. | β | 2006 | β |
| The effects of multiple features of alternatively spliced exons on the K(A)/K(S) ratio test. | Chen FC et al. | β | 2006 | β |
| The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C. | Kishore S et al. | β | 2006 | β |
| Unweaving the meanings of messenger RNA sequences. | GuigΓ³ R et al. | β | 2006 | β |
| Using mRNAs lengths to accurately predict the alternatively spliced gene products in Caenorhabditis elegans. | Agrawal R et al. | β | 2006 | β |
| A combinatorial code for splicing silencing: UAGG and GGGG motifs. | Han K et al. | β | 2005 | β |
| A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. | Hageman GS et al. | β | 2005 | β |
| A simple answer for a splicing conundrum. | Black DL | β | 2005 | β |
| Biased exon/intron distribution of cryptic and de novo 3' splice sites. | KrΓ‘lovicovΓ‘ J et al. | β | 2005 | β |
| Building specificity with nonspecific RNA-binding proteins. | Singh R et al. | β | 2005 | β |
| Characteristics and regulatory elements defining constitutive splicing and different modes of alternative splicing in human and mouse. | Zheng CL et al. | β | 2005 | β |
| Creation and disruption of protein features by alternative splicing -- a novel mechanism to modulate function. | Hiller M et al. | β | 2005 | β |
| Dichotomous splicing signals in exon flanks. | Zhang XH et al. | β | 2005 | β |
| Evidence of functional selection pressure for alternative splicing events that accelerate evolution of protein subsequences. | Xing Y et al. | β | 2005 | β |
| Exon inclusion is dependent on predictable exonic splicing enhancers. | Zhang XH et al. | β | 2005 | β |
| 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. | Lei H et al. | β | 2005 | β |
| Functional studies on the ATM intronic splicing processing element. | Lewandowska MA et al. | β | 2005 | β |
| Global analysis of positive and negative pre-mRNA splicing regulators in Drosophila. | Blanchette M et al. | β | 2005 | β |
| HnRNP L represses exon splicing via a regulated exonic splicing silencer. | Rothrock CR et al. | β | 2005 | β |
| Identification and analysis of alternative splicing events conserved in human and mouse. | Yeo GW et al. | β | 2005 | β |
| Identification of splicing silencers and enhancers in sense Alus: a role for pseudoacceptors in splice site repression. | Lei H et al. | β | 2005 | β |
| Medical sequencing of candidate genes for nonsyndromic cleft lip and palate. | Vieira AR et al. | β | 2005 | β |
| Mutation spectrum leading to an attenuated phenotype in dystrophinopathies. | Tuffery-Giraud S et al. | β | 2005 | β |
| Protein modularity of alternatively spliced exons is associated with tissue-specific regulation of alternative splicing. | Xing Y et al. | β | 2005 | β |
| Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution. | Pagani F et al. | β | 2005 | β |
| The discovery of split genes and RNA splicing. | Sharp PA | β | 2005 | β |
| The effect of U1 snRNA binding free energy on the selection of 5' splice sites. | Bi J et al. | β | 2005 | β |
| The spliceosome: a novel multi-faceted target for therapy. | Tazi J et al. | β | 2005 | β |
| The splicing regulatory element, UGCAUG, is phylogenetically and spatially conserved in introns that flank tissue-specific alternative exons. | Minovitsky S et al. | β | 2005 | β |
| Understanding alternative splicing: towards a cellular code. | Matlin AJ et al. | β | 2005 | β |
| Towards a splicing code. | Fu XD | β | 2004 | β |