Predictive identification of exonic splicing enhancers in human genes.
paper
Cited
Public
Unavailable
- Authors
- Fairbrother, William G; Yeh, Ru-Fang; Sharp, Phillip A; Burge, Christopher B
- Year
- 2002
- Journal
- Science (New York, N.Y.)
- PMID
- 12114529
- DOI
- 10.1126/science.1073774
Specific short oligonucleotide sequences that enhance pre-mRNA splicing when present in exons, termed exonic splicing enhancers (ESEs), play important roles in constitutive and alternative splicing. A computational method, RESCUE-ESE, was developed that predicts which sequences have ESE activity by statistical analysis of exon-intron and splice site composition. When large data sets of human gene sequences were used, this method identified 10 predicted ESE motifs. Representatives of all 10 motifs were found to display enhancer activity in vivo, whereas point mutants of these sequences exhibited sharply reduced activity. The motifs identified enable prediction of the splicing phenotypes of exonic mutations in human genes.
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| Variation Interpretation Predictors: Principles, Types, Performance, and Choice. | Niroula A et al. | β | 2016 | β |
| Alternative splicing in cancer: implications for biology and therapy. | Chen J et al. | β | 2015 | 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 |
| A novel transcript variant of proteasome activator 28Ξ³: Identification and function in oral cancer cells. | Xu X et al. | β | 2015 | β |
| A Quantitative Profiling Tool for Diverse Genomic Data Types Reveals Potential Associations between Chromatin and Pre-mRNA Processing. | Kremsky I 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 |
| Characterization of variegate porphyria mutations using a minigene approach. | Granata BX et al. | β | 2015 | β |
| Chromatin and Genomic determinants of alternative splicing. | Wang K 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 |
| Extensive functional analyses of RHD splice site variants: Insights into the potential role of splicing in the physiology of Rh. | Fichou Y et al. | β | 2015 | β |
| Fine Mapping of a GWAS-Derived Obesity Candidate Region on Chromosome 16p11.2. | Volckmar AL et al. | β | 2015 | β |
| Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II. | Matos L et al. | β | 2015 | β |
| Identification of deep intronic variants in 15 haemophilia A patients by next generation sequencing of the whole factor VIII gene. | Bach JE et al. | β | 2015 | β |
| In silico screening based on predictive algorithms as a design tool for exon skipping oligonucleotides in Duchenne muscular dystrophy. | Echigoya Y 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 |
| 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 |
| Molecular and computational analyses of genes involved in mannose 6-phosphate independent trafficking. | Coutinho MF et al. | β | 2015 | β |
| Non-coding VMA21 deletions cause X-linked myopathy with excessive autophagy. | Ruggieri A et al. | β | 2015 | β |
| PfSR1 controls alternative splicing and steady-state RNA levels in Plasmodium falciparum through preferential recognition of specific RNA motifs. | Eshar S et al. | β | 2015 | β |
| Phenotypic population screen identifies a new mutation in bovine DGAT1 responsible for unsaturated milk fat. | Lehnert K et al. | β | 2015 | β |
| Principles of long noncoding RNA evolution derived from direct comparison of transcriptomes in 17 species. | Hezroni H 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 |
| Recursive splicing in long vertebrate genes. | Sibley CR et al. | β | 2015 | β |
| Regulation of alternative splicing through coupling with transcription and chromatin structure. | Naftelberg S et al. | β | 2015 | β |
| RNA splicing regulated by RBFOX1 is essential for cardiac function in zebrafish. | Frese KS et al. | β | 2015 | β |
| RNA therapeutics inactivate PCSK9 by inducing a unique intracellular retention form. | Rocha CS et al. | β | 2015 | β |
| Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium. | CaparrΓ³s-MartΓn JA et al. | β | 2015 | β |
| Splice junctions are constrained by protein disorder. | Smithers B 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 |
| SR proteins control a complex network of RNA-processing events. | Bradley T et al. | β | 2015 | β |
| Survey of Programs Used to Detect Alternative Splicing Isoforms from Deep Sequencing Data In Silico. | Min F et al. | β | 2015 | β |
| The evolutionary dynamics of major regulators for sexual development among Hymenoptera species. | Biewer M 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 |
| Tissue- and case-specific retention of intron 40 in mature dystrophin mRNA. | Nishida A et al. | β | 2015 | β |
| Transcriptome-wide identification and study of cancer-specific splicing events across multiple tumors. | Tsai YS et al. | β | 2015 | β |
| Transcriptome-Wide Identification of RNA Targets of Arabidopsis SERINE/ARGININE-RICH45 Uncovers the Unexpected Roles of This RNA Binding Protein in RNA Processing. | Xing D 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 |
| VEGF Splicing and the Role of VEGF Splice Variants: From Physiological-Pathological Conditions to Specific Pre-mRNA Splicing. | Guyot M et al. | β | 2015 | β |
| Why Selection Might Be Stronger When Populations Are Small: Intron Size and Density Predict within and between-Species Usage of Exonic Splice Associated cis-Motifs. | Wu X et al. | β | 2015 | β |
| Widespread exon skipping triggers degradation by nuclear RNA surveillance in fission yeast. | Bitton DA et al. | β | 2015 | β |
| A bioinformatic and computational study of myosin phosphatase subunit diversity. | Dippold RP 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 frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal. | Coelho AI et al. | β | 2014 | β |
| A genome wide association study links glutamate receptor pathway to sporadic Creutzfeldt-Jakob disease risk. | Sanchez-Juan P et al. | β | 2014 | β |
| A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides. | Dominov JA et al. | β | 2014 | β |
| A rare sequence variant in intron 1 of THAP1 is associated with primary dystonia. | Vemula SR et al. | β | 2014 | β |
| Binding site discovery from nucleic acid sequences by discriminative learning of hidden Markov models. | Maaskola J et al. | β | 2014 | β |
| Biochemical characterization of pathogenic mutations in human mitochondrial methionyl-tRNA formyltransferase. | Sinha A et al. | β | 2014 | β |
| Biomaterials at the interface of nano- and micro-scale vector-cellular interactions in genetic vaccine design. | Jones CH 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 |
| Design and application of bispecific splice-switching oligonucleotides. | Bestas B 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 |
| Expression of different functional isoforms in haematopoiesis. | Grech G et al. | β | 2014 | β |
| Functional annotation of putative regulatory elements at cancer susceptibility Loci. | Rosse SA et al. | β | 2014 | β |
| Genetic association of the tachykinin receptor 1 TACR1 gene in bipolar disorder, attention deficit hyperactivity disorder, and the alcohol dependence syndrome. | Sharp SI 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 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 |
| Germline mutations of TP53 gene in breast cancer. | Damineni S et al. | β | 2014 | β |
| Hypoxia alters expression of zebrafish microtubule-associated protein tau (mapta, maptb) gene transcripts. | Moussavi Nik SH et al. | β | 2014 | β |
| Identifying splicing regulatory elements with de Bruijn graphs. | Badr E et al. | β | 2014 | β |
| Impairment of translation in neurons as a putative causative factor for autism. | Poliakov E et al. | β | 2014 | β |
| In silico prediction of splice-altering single nucleotide variants in the human genome. | Jian X et al. | β | 2014 | β |
| Laying a solid foundation for Manhattan--'setting the functional basis for the post-GWAS era'. | Zhang X et al. | β | 2014 | β |
| Microexons go big. | Yang L et al. | β | 2014 | β |
| MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing. | Mort M et al. | β | 2014 | β |
| PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing. | Taube JR et al. | β | 2014 | β |
| Polymorphisms of the vincristine pathway and response to treatment in children with childhood acute lymphoblastic leukemia. | Ceppi F 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 |
| Pressure-overload cardiac hypertrophy is associated with distinct alternative splicing due to altered expression of splicing factors. | Kim T 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 |
| PTB binds to the 3' untranslated region of the human astrovirus type 8: a possible role in viral replication. | Espinosa-HernΓ‘ndez W et al. | β | 2014 | β |
| Purifying selection on splice-related motifs, not expression level nor RNA folding, explains nearly all constraint on human lincRNAs. | SchΓΌler A et al. | β | 2014 | β |
| Regulation of gene expression through production of unstable mRNA isoforms. | Sibley CR | β | 2014 | β |
| SeeSite: Characterizing Relationships between Splice Junctions and Splicing Enhancers. | Lo C et al. | β | 2014 | β |
| Selection on synonymous codons in mammalian rhodopsins: a possible role in optimizing translational processes. | Du J et al. | β | 2014 | β |
| Splice-correcting oligonucleotides restore BTK function in X-linked agammaglobulinemia model. | Bestas B et al. | β | 2014 | β |
| Splicing code modeling. | Barash Y 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 multiplicity of alternative splicing decisions in Caenorhabditis elegans is linked to specific intronic regulatory motifs and minisatellites. | Glauser DA | 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 |
| The splicing factor RBM4 controls apoptosis, proliferation, and migration to suppress tumor progression. | Wang Y et al. | β | 2014 | β |
| The translational landscape of the splicing factor SRSF1 and its role in mitosis. | Maslon MM 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 |
| 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 |
| A common missense variant in the neuregulin 1 gene is associated with both schizophrenia and sudden cardiac death. | Huertas-Vazquez A 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 mini-intronic plasmid (MIP): a novel robust transgene expression vector in vivo and in vitro. | Lu J et al. | β | 2013 | β |
| Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals. | Piton A et al. | β | 2013 | β |
| Angiotensin-converting enzyme gene variants are associated with both cortisol secretion and late-life depression. | Ancelin ML et al. | β | 2013 | β |
| Antisense therapy in neurology. | Lee JJ et al. | β | 2013 | β |
| A simple model to explain evolutionary trends of eukaryotic gene architecture and expression: how competition between splicing and cleavage/polyadenylation factors may affect gene expression and splice-site recognition in eukaryotes. | Catania F 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 |
| Candidate gene association studies: a comprehensive guide to useful in silico tools. | Patnala R 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 |
| Common genetic variants of surfactant protein-D (SP-D) are associated with type 2 diabetes. | Pueyo N et al. | β | 2013 | β |
| Computational study of ADD1 gene polymorphism associated with hypertension. | Kundu A et al. | β | 2013 | β |
| Evidence for deep phylogenetic conservation of exonic splice-related constraints: splice-related skews at exonic ends in the brown alga Ectocarpus are common and resemble those seen in humans. | Wu X 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 |
| Functional analysis of a large set of BRCA2 exon 7 variants highlights the predictive value of hexamer scores in detecting alterations of exonic splicing regulatory elements. | Di Giacomo D et al. | β | 2013 | β |
| Genome-wide analysis reveals SR protein cooperation and competition in regulated splicing. | Pandit S et al. | β | 2013 | β |
| Ikaros (IKZF1) alterations and minimal residual disease at day 15 assessed by flow cytometry predict prognosis of childhood BCR/ABL-negative acute lymphoblastic leukemia. | Volejnikova J et al. | β | 2013 | β |
| Leucine to proline substitution by SNP at position 197 in Caspase-9 gene expression leads to neuroblastoma: a bioinformatics analysis. | Kundu A 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 |
| Oligonucleotide therapeutics in cancer. | Wan J et al. | β | 2013 | β |
| Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants. | BorrΓ s E 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 evolution, impact and properties of exonic splice enhancers. | CΓ‘ceres EF et al. | β | 2013 | β |
| The missing puzzle piece: splicing mutations. | Lewandowska MA | β | 2013 | β |
| The ubiquitin ligase Praja1 reduces NRAGE expression and inhibits neuronal differentiation of PC12 cells. | Teuber J et al. | β | 2013 | β |
| Tra2-mediated recognition of HIV-1 5' splice site D3 as a key factor in the processing of vpr mRNA. | Erkelenz S et al. | β | 2013 | β |
| Vector Design for Improved DNA Vaccine Efficacy, Safety and Production. | Williams JA | β | 2013 | β |
| A common BACE1 polymorphism is a risk factor for sporadic Creutzfeldt-Jakob disease. | Calero O et al. | β | 2012 | β |
| Alternative splicing of RNA triplets is often regulated and accelerates proteome evolution. | Bradley RK et al. | β | 2012 | β |
| An exon-centric perspective. | Blencowe BJ | β | 2012 | β |
| An exon splice enhancer primes IGF2:IGF2R binding site structure and function evolution. | Williams C et al. | β | 2012 | β |
| A prospective study in the rational design of efficient antisense oligonucleotides for exon skipping in the DMD gene. | Pramono ZA 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 |
| 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 BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members. | Thomassen M 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 |
| CodingMotif: exact determination of overrepresented nucleotide motifs in coding sequences. | Ding Y et al. | β | 2012 | β |
| Comprehensive functional assessment of MLH1 variants of unknown significance. | BorrΓ s E et al. | β | 2012 | β |
| Deciphering the plant splicing code: experimental and computational approaches for predicting alternative splicing and splicing regulatory elements. | Reddy AS et al. | β | 2012 | β |
| DNA diagnostics and exon skipping. | Srirangalingam U et al. | β | 2012 | β |
| Engineering U7snRNA gene to reframe transcripts. | Goyenvalle A | β | 2012 | β |
| Exploiting ancestral mammalian genomes for the prediction of human transcription factor binding sites. | Blanchette M | β | 2012 | β |
| Features of missense/nonsense mutations in exonic splicing enhancer sequences from cancer-related human genes. | Jin P et al. | β | 2012 | β |
| Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. | Houdayer C et al. | β | 2012 | β |
| Identification of an intronic splicing regulatory element involved in auto-regulation of alternative splicing of SCL33 pre-mRNA. | Thomas J et al. | β | 2012 | β |
| Identification of conserved splicing motifs in mutually exclusive exons of 15 insect species. | Buendia P et al. | β | 2012 | β |
| Intronic splicing enhancers, cognate splicing factors and context-dependent regulation rules. | Wang Y 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 |
| Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. | Boyden LM 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 |
| Sequencing of the ANKYRIN 3 gene (ANK3) encoding ankyrin G in bipolar disorder reveals a non-conservative amino acid change in a short isoform of ankyrin G. | Dedman A et al. | β | 2012 | β |
| Spliceman--a computational web server that predicts sequence variations in pre-mRNA splicing. | Lim KH 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 |
| Theory on the coupled stochastic dynamics of transcription and splice-site recognition. | Murugan R et al. | β | 2012 | β |
| VERSE: a varying effect regression for splicing elements discovery. | Zhang J et al. | β | 2012 | 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 |
| Alternative splicing factor or splicing factor-2 plays a key role in intron retention of the endoglin gene during endothelial senescence. | Blanco FJ et al. | β | 2011 | β |
| Alternative splicing regulation by Muscleblind proteins: from development to disease. | Fernandez-Costa JM et al. | β | 2011 | β |
| ANGPT2 genetic variant is associated with trauma-associated acute lung injury and altered plasma angiopoietin-2 isoform ratio. | Meyer NJ et al. | β | 2011 | β |
| An intronic mutation in MLH1 associated with familial colon and breast cancer. | Bianchi F et al. | β | 2011 | β |
| Antisense-induced myostatin exon skipping leads to muscle hypertrophy in mice following octa-guanidine morpholino oligomer treatment. | Kang JK 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 |
| Ca2+-signaling, alternative splicing and endoplasmic reticulum stress responses. | Krebs J et al. | β | 2011 | β |
| Candidate screening of the TRPC3 gene in cerebellar ataxia. | Becker EB et al. | β | 2011 | β |
| Cataloguing functionally relevant polymorphisms in gene DNA ligase I: a computational approach. | Singh AA et al. | β | 2011 | β |
| Compensatory signals associated with the activation of human GC 5' splice sites. | Kralovicova J et al. | β | 2011 | β |
| Comprehensive analysis of alternative splicing and functionality in neuronal differentiation of P19 cells. | Suzuki H et al. | β | 2011 | β |
| Context-dependent robustness to 5' splice site polymorphisms in human populations. | Lu ZX et al. | β | 2011 | β |
| Dynamic usage of alternative splicing exons during mouse retina development. | Wan J et al. | β | 2011 | β |
| Engineering exon-skipping vectors expressing U7 snRNA constructs for Duchenne muscular dystrophy gene therapy. | Goyenvalle A et al. | β | 2011 | β |
| Evolutionary connections between coding and splicing regulatory regions in the fibronectin EDA exon. | Zago P et al. | β | 2011 | β |
| Exonic DNA sequencing of ERBB4 in bipolar disorder. | Goes FS et al. | β | 2011 | β |
| Exploration for functional nucleotide sequence candidates within coding regions of mammalian genes. | Suzuki R 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 |
| Functional expression of angiotensinogen depends on splicing enhancers in exon 2. | Cardoso CC et al. | β | 2011 | β |
| Genetic variants of 6q25 and breast cancer susceptibility: a two-stage fine mapping study in a Chinese population. | Han J 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 |
| In silico prediction of splice-affecting nucleotide variants. | Houdayer C | β | 2011 | β |
| Juxtaposition of two distant, serine-arginine-rich protein-binding elements is required for optimal polyadenylation in Rous sarcoma virus. | Hudson SW et al. | β | 2011 | β |
| Locating protein-coding sequences under selection for additional, overlapping functions in 29 mammalian genomes. | Lin MF 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 |
| Molecular study of the perforin gene in familial hematological malignancies. | El Abed R 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 |
| Novel Ξ±1 and Ξ³2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy. | Lachance-Touchette P 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 |
| Preventing dangerous nonsense: selection for robustness to transcriptional error in human genes. | Cusack BP 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 |
| Quantitative evaluation of all hexamers as exonic splicing elements. | Ke S et al. | β | 2011 | β |
| Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes. | Zampieri S et al. | β | 2011 | β |
| Understanding splicing regulation through RNA splicing maps. | Witten JT 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 |
| Alternative splicing of CD200 is regulated by an exonic splicing enhancer and SF2/ASF. | Chen Z et al. | β | 2010 | β |
| Alternative ways to think about cellular internal ribosome entry. | Gilbert WV | 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 |
| A network of conserved co-occurring motifs for the regulation of alternative splicing. | Suyama M et al. | β | 2010 | β |
| An exonic splicing enhancer within a bidirectional coding sequence regulates alternative splicing of an antisense mRNA. | Salato VK et al. | β | 2010 | β |
| An improved in silico selection of phenotype affecting polymorphisms in SLC6A4, HTR1A and HTR2A genes. | Piva F et al. | β | 2010 | β |
| Antisense modulation of both exonic and intronic splicing motifs induces skipping of a DMD pseudo-exon responsible for x-linked dilated cardiomyopathy. | Rimessi P 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 |
| CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms. | Romanelli V 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 |
| Context-dependent regulatory mechanism of the splicing factor hnRNP L. | Motta-Mena LB et al. | β | 2010 | β |
| Deciphering the splicing code. | Barash Y et al. | β | 2010 | β |
| Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity. | Walker LC et al. | β | 2010 | β |
| Doublesex: a conserved downstream gene controlled by diverse upstream regulators. | Shukla JN et al. | β | 2010 | β |
| Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts. | Whiley PJ et al. | β | 2010 | β |
| Evolution of alternative splicing in primate brain transcriptomes. | Lin L et al. | β | 2010 | β |
| Exon 7 deletion in the bcr-abl gene is frequent in chronic myeloid leukemia patients and is not correlated with resistance against imatinib. | Gaillard JB et al. | β | 2010 | β |
| Expansion of the eukaryotic proteome by alternative splicing. | Nilsen TW et al. | β | 2010 | β |
| Experimentally increased codon bias in the Drosophila Adh gene leads to an increase in larval, but not adult, alcohol dehydrogenase activity. | Hense W 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 |
| Frame-disrupting mutations elicit pre-mRNA accumulation independently of frame disruption. | Imam JS et al. | β | 2010 | β |
| Functional implications of the emergence of alternative splicing in hnRNP A/B transcripts. | Han SP 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 analysis of alternative splicing in Chlamydomonas reinhardtii. | Labadorf A et al. | β | 2010 | β |
| Genome-wide association between branch point properties and alternative splicing. | Corvelo A et al. | β | 2010 | β |
| Genome-wide data-mining of candidate human splice translational efficiency polymorphisms (STEPs) and an online database. | Raistrick CA et al. | β | 2010 | β |
| Genomic features defining exonic variants that modulate splicing. | Woolfe A et al. | β | 2010 | β |
| HITS-CLIP: panoramic views of protein-RNA regulation in living cells. | Darnell RB | β | 2010 | β |
| Homozygosity for the EPHX2 K55R polymorphism increases the long-term risk of ischemic stroke in men: a study in Swedes. | Fava C et al. | 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 |
| Interleukin 7 receptor alpha chain haplotypes vary in their influence on multiple sclerosis susceptibility and response to interferon Beta. | Hoe E et al. | β | 2010 | β |
| Intronic motif pairs cooperate across exons to promote pre-mRNA splicing. | Ke S et al. | β | 2010 | β |
| Localizing triplet periodicity in DNA and cDNA sequences. | Wang L 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 |
| MLH1 founder mutations with moderate penetrance in Spanish Lynch syndrome families. | BorrΓ s E et al. | β | 2010 | β |
| Mutational screening of VSX1 in keratoconus patients from the European population. | Dash DP et al. | β | 2010 | β |
| Mutational study of the MAMLD1-gene in hypospadias. | Chen Y et al. | β | 2010 | β |
| Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa. | BarragΓ‘n I et al. | β | 2010 | β |
| Noisy splicing drives mRNA isoform diversity in human cells. | Pickrell JK et al. | β | 2010 | β |
| Overlapping splicing regulatory motifs--combinatorial effects on splicing. | Goren A et al. | β | 2010 | β |
| Prediction of alternatively spliced exons using support vector machines. | Xia J et al. | β | 2010 | β |
| Regulation of splicing enhancer activities by RNA secondary structures. | Liu W et al. | β | 2010 | β |
| Spectrum of F8 gene mutations in haemophilia A patients from a region of Italy: identification of 23 new mutations. | Riccardi F 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 |
| Support for a bipolar affective disorder susceptibility locus on chromosome 12q24.3. | ButtenschΓΈn HN et al. | β | 2010 | β |
| Synonymous polymorphisms at splicing regulatory sites are associated with CpGs in neurodegenerative disease-related genes. | Karambataki M et al. | β | 2010 | β |
| Systematic analysis of cis-elements in unstable mRNAs demonstrates that CUGBP1 is a key regulator of mRNA decay in muscle cells. | Lee JE et al. | β | 2010 | β |
| Systems analysis of alternative splicing and its regulation. | Xiao X et al. | β | 2010 | β |
| The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration. | Yu CE et al. | β | 2010 | β |
| TNF receptor-associated periodic fever syndrome caused by sequence alterations in exonic splicing enhancers: comment on the article by TrΓΌbenbach et al. | Martorana D 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 |
| ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing. | Burgess R et al. | 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 |
| An Alu-derived intronic splicing enhancer facilitates intronic processing and modulates aberrant splicing in ATM. | Pastor T et al. | β | 2009 | β |
| An integrative scoring system for ranking SNPs by their potential deleterious effects. | Lee PH et al. | β | 2009 | β |
| A nonsense exon in the Tpm1 gene is silenced by hnRNP H and F. | Coles JL et al. | β | 2009 | β |
| A novel mutation in the DNASE1 gene is related with protein instability and decreased enzyme activity in thyroid autoimmunity. | Dittmar M et al. | β | 2009 | β |
| An RNA code for the FOX2 splicing regulator revealed by mapping RNA-protein interactions in stem cells. | Yeo GW 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 |
| A synonymous mutation in TCOF1 causes Treacher Collins syndrome due to mis-splicing of a constitutive exon. | Macaya D et al. | β | 2009 | β |
| Biased chromatin signatures around polyadenylation sites and exons. | Spies N et al. | β | 2009 | β |
| Characterization of the neurohypophysial hormone gene loci in elephant shark and the Japanese lamprey: origin of the vertebrate neurohypophysial hormone genes. | Gwee PC et al. | β | 2009 | β |
| Chromatin organization marks exon-intron structure. | Schwartz S et al. | β | 2009 | β |
| COMIT: identification of noncoding motifs under selection in coding sequences. | Kural D et al. | β | 2009 | β |
| Computational prediction of splicing regulatory elements shared by Tetrapoda organisms. | Churbanov A et al. | β | 2009 | β |
| Control of the papillomavirus early-to-late switch by differentially expressed SRp20. | Jia R et al. | β | 2009 | β |
| Cryptic exon activation by disruption of exon splice enhancer: novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency. | Stucki M et al. | β | 2009 | β |
| Design of phosphorodiamidate morpholino oligomers (PMOs) for the induction of exon skipping of the human DMD gene. | Popplewell LJ 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 |
| Effect of exonic splicing regulation on synonymous codon usage in alternatively spliced exons of Dscam. | Takahashi A | β | 2009 | β |
| Enhanced exon-skipping induced by U7 snRNA carrying a splicing silencer sequence: Promising tool for DMD therapy. | Goyenvalle A 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 |
| Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia. | Vega AI et al. | β | 2009 | β |
| Genome-wide identification of alternative splice forms down-regulated by nonsense-mediated mRNA decay in Drosophila. | Hansen KD 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 |
| Human Splicing Finder: an online bioinformatics tool to predict splicing signals. | Desmet FO 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 |
| Intronization, de-intronization and intron sliding are rare in Cryptococcus. | Roy SW | β | 2009 | β |
| In vitro splicing analysis showed that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1G-->A mutations in introns of the dystrophin gene. | Habara Y et al. | β | 2009 | β |
| Large-scale analysis of exonized mammalian-wide interspersed repeats in primate genomes. | Lin L et al. | β | 2009 | β |
| Melusin gene (ITGB1BP2) nucleotide variations study in hypertensive and cardiopathic patients. | Palumbo V 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 |
| Molecular characterization of three new mutations causing C5 deficiency in two non-related families. | LΓ³pez-Lera A et al. | β | 2009 | β |
| Mutation analysis in primary immunodeficiency diseases: case studies. | Hsu AP et al. | β | 2009 | β |
| Next-generation SELEX identifies sequence and structural determinants of splicing factor binding in human pre-mRNA sequence. | Reid DC et al. | β | 2009 | β |
| Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations. | Visser WE et al. | 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 |
| Rational design of antisense oligomers to induce dystrophin exon skipping. | Mitrpant C et al. | β | 2009 | β |
| Regulation of mammalian pre-mRNA splicing. | Hui J | β | 2009 | β |
| Role of in silico tools in gene discovery. | Yu B | β | 2009 | β |
| SpliceAid: a database of experimental RNA target motifs bound by splicing proteins in humans. | Piva F 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 |
| Splicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcripts. | Sanford JR et al. | β | 2009 | β |
| Splicing of designer exons reveals unexpected complexity in pre-mRNA splicing. | Zhang XH et al. | β | 2009 | β |
| Splicing of the large intron present in the nonstructural gene of minute virus of mice is governed by TIA-1/TIAR binding downstream of the nonconsensus donor. | Choi EY et al. | β | 2009 | β |
| SROOGLE: webserver for integrative, user-friendly visualization of splicing signals. | Schwartz S et al. | β | 2009 | β |
| Stochastic noise in splicing machinery. | Melamud E et al. | β | 2009 | β |
| Studying genetic variations in cancer prognosis (and risk): a primer for clinicians. | Savas S et al. | β | 2009 | β |
| Tandem exon duplication tends to propagate rather than to create de novo alternative splicing. | Peng T et al. | β | 2009 | β |
| The G allele of SNP E1/A118G at the mu-opioid receptor gene locus shows genomic evidence of recent positive selection. | Pang GS et al. | β | 2009 | β |
| The influence of calcium signaling on the regulation of alternative splicing. | Krebs J | β | 2009 | β |
| The SR protein family. | Shepard PJ et al. | β | 2009 | β |
| The SR protein family of splicing factors: master regulators of gene expression. | Long JC et al. | β | 2009 | β |
| Vitamin D related genes, CYP24A1 and CYP27B1, and colon cancer risk. | Dong LM et al. | β | 2009 | β |
| Ab initio identification of functionally interacting pairs of cis-regulatory elements. | Friedman BA et al. | β | 2008 | β |
| A construct with fluorescent indicators for conditional expression of miRNA. | Qiu L et al. | β | 2008 | β |
| Alternative splicing: current perspectives. | Kim E et al. | β | 2008 | β |
| Alternative splicing of Alu exons--two arms are better than one. | Gal-Mark N et al. | β | 2008 | β |
| Antagonistic effects of the SRp30c protein and cryptic 5' splice sites on the alternative splicing of the apoptotic regulator Bcl-x. | Cloutier P et al. | β | 2008 | β |
| A strong exonic splicing enhancer in dystrophin exon 19 achieve proper splicing without an upstream polypyrimidine tract. | Habara Y et al. | β | 2008 | β |
| A systematic analysis of intronic sequences downstream of 5' splice sites reveals a widespread role for U-rich motifs and TIA1/TIAL1 proteins in alternative splicing regulation. | Aznarez I et al. | β | 2008 | β |
| ATM allelic variants associated to hereditary breast cancer in 94 Chilean women: susceptibility or ethnic influences? | Tapia T et al. | β | 2008 | β |
| Automatic detection of exonic splicing enhancers (ESEs) using SVMs. | Mersch B et al. | β | 2008 | β |
| Binding of DAZAP1 and hnRNPA1/A2 to an exonic splicing silencer in a natural BRCA1 exon 18 mutant. | Goina E et al. | β | 2008 | β |
| Calculation of splicing potential from the Alternative Splicing Mutation Database. | Bechtel JM et al. | β | 2008 | β |
| CLN2/TPP1 deficiency: the novel mutation IVS7-10A>G causes intron retention and is associated with a mild disease phenotype. | Bessa C et al. | β | 2008 | β |
| Combinatorial control of exon recognition. | Hertel KJ | β | 2008 | β |
| Computational analysis of splicing errors and mutations in human transcripts. | Kurmangaliyev YZ et al. | β | 2008 | β |
| Diverse splicing patterns of exonized Alu elements in human tissues. | Lin L 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 |
| Dynamics of co-transcriptional pre-mRNA folding influences the induction of dystrophin exon skipping by antisense oligonucleotides. | Wee KB et al. | β | 2008 | β |
| Essential function, sophisticated regulation and pathological impact of the selective RNA-binding protein QKI in CNS myelin development. | Bockbrader K et al. | β | 2008 | β |
| Evaluation of in silico splice tools for decision-making in molecular diagnosis. | Houdayer C et al. | β | 2008 | β |
| Exon creation and establishment in human genes. | Corvelo A et al. | β | 2008 | β |
| Expression of 24,426 human alternative splicing events and predicted cis regulation in 48 tissues and cell lines. | Castle JC et al. | β | 2008 | β |
| Expression of a GRM3 splice variant is increased in the dorsolateral prefrontal cortex of individuals carrying a schizophrenia risk SNP. | Sartorius LJ et al. | β | 2008 | β |
| Finding exonic islands in a sea of non-coding sequence: splicing related constraints on protein composition and evolution are common in intron-rich genomes. | Warnecke T et al. | β | 2008 | β |
| fruitless Gene products truncated of their male-like qualities promote neural and behavioral maleness in Drosophila if these proteins are produced in the right places at the right times. | Ferri SL et al. | β | 2008 | β |
| F-SNP: computationally predicted functional SNPs for disease association studies. | Lee PH et al. | β | 2008 | β |
| Genes in glucose metabolism and association with spina bifida. | Davidson CM et al. | β | 2008 | β |
| Genetic variation in calcium-sensing receptor and risk for colon cancer. | Dong LM et al. | β | 2008 | β |
| Genetic variation in the ASIC3 gene influences blood pressure levels in Taiwanese. | Ko YL et al. | β | 2008 | β |
| Global analysis of mRNA splicing. | Moore MJ et al. | β | 2008 | β |
| Identification of nuclear and cytoplasmic mRNA targets for the shuttling protein SF2/ASF. | Sanford JR et al. | β | 2008 | β |
| Improved identification of conserved cassette exons using Bayesian networks. | Sinha R et al. | β | 2008 | β |
| Influence of Friedreich ataxia GAA noncoding repeat expansions on pre-mRNA processing. | Baralle M et al. | β | 2008 | β |
| Intronic Alus influence alternative splicing. | Lev-Maor G et al. | β | 2008 | β |
| Mechanisms and sequelae of E-cadherin silencing in hereditary diffuse gastric cancer. | Barber M et al. | β | 2008 | β |
| One parameter to describe the mechanism of splice sites competition. | Yang W et al. | β | 2008 | β |
| Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma. | Skibola CF et al. | β | 2008 | β |
| Position-dependent motif characterization using non-negative matrix factorization. | Hutchins LN et al. | β | 2008 | β |
| Positive selection acting on splicing motifs reflects compensatory evolution. | Ke S et al. | β | 2008 | β |
| Prediction and assessment of splicing alterations: implications for clinical testing. | Spurdle AB et al. | β | 2008 | β |
| Prediction of alternatively skipped exons and splicing enhancers from exon junction arrays. | Kechris K et al. | β | 2008 | β |
| RNA landscape of evolution for optimal exon and intron discrimination. | Zhang C et al. | β | 2008 | β |
| Sequence and organization of coelacanth neurohypophysial hormone genes: evolutionary history of the vertebrate neurohypophysial hormone gene locus. | Gwee PC et al. | β | 2008 | β |
| Simultaneous assessment of the effects of exonic mutations on RNA splicing and protein functions. | Ho PY 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 |
| SR proteins ASF/SF2 and SRp55 participate in tissue factor biosynthesis in human monocytic cells. | Tardos JG et al. | β | 2008 | β |
| Strategies for identifying RNA splicing regulatory motifs and predicting alternative splicing events. | Holste D et al. | β | 2008 | β |
| Structural relationships between highly conserved elements and genes in vertebrate genomes. | Sun H 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 |
| TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. | Savage SA et al. | β | 2008 | β |
| Ultraconserved coding regions outside the homeobox of mammalian Hox genes. | Lin Z et al. | β | 2008 | β |
| Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. | Buratti E et al. | β | 2007 | β |
| A common polymorphism decreases low-density lipoprotein receptor exon 12 splicing efficiency and associates with increased cholesterol. | Zhu H et al. | β | 2007 | 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 |
| A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation. | Dehainault C et al. | β | 2007 | β |
| A human-specific mutation leads to the origin of a novel splice form of neuropsin (KLK8), a gene involved in learning and memory. | Lu ZX et al. | β | 2007 | β |
| Alternatively spliced T-cell receptor transcripts are up-regulated in response to disruption of either splicing elements or reading frame. | Chang YF et al. | β | 2007 | β |
| Alternative splicing and expression profile analysis of expressed sequence tags in domestic pig. | Zhang L et al. | β | 2007 | β |
| A multicenter analysis of the FIP1L1-alphaPDGFR fusion gene in Japanese idiopathic hypereosinophilic syndrome: an aberrant splicing skipping the alphaPDGFR exon 12. | Sada A et al. | β | 2007 | β |
| An intronic signal for alternative splicing in the human genome. | Havlioglu N et al. | β | 2007 | β |
| Antisense-mediated exon skipping: a versatile tool with therapeutic and research applications. | Aartsma-Rus A et al. | β | 2007 | β |
| Antisense oligonucleotide-induced alternative splicing of the APOB mRNA generates a novel isoform of APOB. | Khoo B et al. | β | 2007 | β |
| A sequence motif in the simian virus 40 (SV40) early core promoter affects alternative splicing of transcribed mRNA. | Gendra E et al. | β | 2007 | β |
| BCoR-L1 variation and breast cancer. | Lose F et al. | β | 2007 | β |
| Chromatin structure and evolution in the human genome. | Prendergast JG et al. | β | 2007 | β |
| Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect. | Santoro M et al. | β | 2007 | β |
| Clinical and molecular characterization of Wilson disease in Spanish patients. | Brage A et al. | β | 2007 | β |
| Coevolutionary networks of splicing cis-regulatory elements. | Xiao X et al. | β | 2007 | β |
| Common genetic variants and haplotypes in renal CLCNKA gene are associated to salt-sensitive hypertension. | Barlassina C et al. | β | 2007 | β |
| Common genetic variation in KCNH2 is associated with QT interval duration: the Framingham Heart Study. | Newton-Cheh C et al. | β | 2007 | β |
| Comparative genomics and evolution of alternative splicing: the pessimists' science. | Artamonova II et al. | β | 2007 | β |
| Detecting non-coding selective pressure in coding regions. | Chen H et al. | β | 2007 | β |
| Detecting over-represented motifs in alternatively spliced exons using Gibbs sampling. | Malousi A et al. | β | 2007 | β |
| Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome. | Donsante A et al. | β | 2007 | β |
| Discovery and analysis of evolutionarily conserved intronic splicing regulatory elements. | Yeo GW et al. | β | 2007 | β |
| Discovery of functional elements in 12 Drosophila genomes using evolutionary signatures. | Stark A et al. | β | 2007 | β |
| Evaluation of the OPTC gene in primary open angle glaucoma: functional significance of a silent change. | Acharya M et al. | β | 2007 | β |
| Evidence for a trade-off between translational efficiency and splicing regulation in determining synonymous codon usage in Drosophila melanogaster. | Warnecke T et al. | β | 2007 | β |
| Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption. | Wimmer K et al. | β | 2007 | β |
| Factors associated with a purine-rich exonic splicing enhancer sequence in Xenopus oocyte nucleus. | Masuyama K et al. | β | 2007 | β |
| Functional and mechanistic insights from genome-wide studies of splicing regulation in the brain. | Ule J 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 |
| How common are intragene windows with KA > KS owing to purifying selection on synonymous mutations? | Parmley JL et al. | β | 2007 | β |
| Identification of two novel mutations and of a novel critical region in the KRIT1 gene. | Guarnieri V et al. | β | 2007 | β |
| Interplay between exonic splicing enhancers, mRNA processing, and mRNA surveillance in the dystrophic Mdx mouse. | Buvoli M et al. | β | 2007 | β |
| Latitudinal clines for nucleotide polymorphisms in the Esterase 6 gene of Drosophila melanogaster. | Coppin CW 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 |
| Multisite and bidirectional exonic splicing enhancer in CD44 alternative exon v3. | Vela E et al. | β | 2007 | β |
| Possible role of nucleotide correlations between human exon junctions. | Piva F et al. | β | 2007 | β |
| Pre-mRNA secondary structures influence exon recognition. | Hiller M et al. | β | 2007 | β |
| Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA. | RincΓ³n A et al. | β | 2007 | β |
| Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene. | Deburgrave N et al. | β | 2007 | β |
| Reduced splicing efficiency induced by synonymous substitutions may generate a substrate for natural selection of new splicing isoforms: the case of CFTR exon 12. | Raponi M et al. | β | 2007 | β |
| Relating alternative splicing to proteome complexity and genome evolution. | Xing Y et al. | β | 2007 | β |
| Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3. | Pasmooij AM et al. | β | 2007 | β |
| Role of purine-rich exonic splicing enhancers in nuclear retention of pre-mRNAs. | Taniguchi I et al. | 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 |
| Sequence features responsible for intron retention in human. | Sakabe NJ et al. | β | 2007 | β |
| Snap: an integrated SNP annotation platform. | Li S et al. | β | 2007 | β |
| Splicing and the evolution of proteins in mammals. | Parmley JL et al. | β | 2007 | β |
| Splicing in disease: disruption of the splicing code and the decoding machinery. | Wang GS et al. | β | 2007 | β |
| SR proteins and related factors in alternative splicing. | Lin S 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 |
| Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia. | Hims MM 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 |
| Unproductive splicing of SR genes associated with highly conserved and ultraconserved DNA elements. | Lareau LF et al. | β | 2007 | β |
| A class of human exons with predicted distant branch points revealed by analysis of AG dinucleotide exclusion zones. | Gooding C 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 |
| 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 |
| A machine learning strategy to identify candidate binding sites in human protein-coding sequence. | Down T et al. | β | 2006 | β |
| An exon skipping-associated nonsense mutation in the dystrophin gene uncovers a complex interplay between multiple antagonistic splicing elements. | Disset A 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 |
| Association analyses suggest GPR24 as a shared susceptibility gene for bipolar affective disorder and schizophrenia. | Severinsen JE et al. | β | 2006 | β |
| Association of polymorphisms in the Angiotensin-converting enzyme gene with Alzheimer disease in an Israeli Arab community. | Meng Y et al. | β | 2006 | β |
| Bioinformatics of alternative splicing and its regulation. | Florea L | β | 2006 | β |
| Comparative analysis identifies exonic splicing regulatory sequences--The complex definition of enhancers and silencers. | Goren A et al. | β | 2006 | β |
| Compensatory relationship between splice sites and exonic splicing signals depending on the length of vertebrate introns. | Dewey CN et al. | β | 2006 | β |
| Cryptic splice site usage in exon 7 of the human fibrinogen Bbeta-chain gene is regulated by a naturally silent SF2/ASF binding site within this exon. | Spena S et al. | β | 2006 | β |
| Defective splicing, disease and therapy: searching for master checkpoints in exon definition. | Buratti E et al. | β | 2006 | β |
| Differentiated evolutionary rates in alternative exons and the implications for splicing regulation. | Plass M et al. | β | 2006 | β |
| Disruption of an exon splicing enhancer in exon 3 of MLH1 is the cause of HNPCC in a Quebec family. | McVety S et al. | β | 2006 | β |
| Distal regulation of alternative splicing by splicing enhancer in equine beta-casein intron 1. | Lenasi T et al. | β | 2006 | β |
| Djinn Lite: a tool for customised gene transcript modelling, annotation-data enrichment and exploration. | Teber ET 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 |
| Functional single nucleotide polymorphism-based association studies. | Carlton VE 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 a splicing enhancer in MLH1 using COMPARE, a new assay for determination of relative RNA splicing efficiencies. | Xu DQ et al. | β | 2006 | β |
| IMAGe association and congenital adrenal hypoplasia: no disease-causing mutations found in the ACD gene. | Hutz JE et al. | β | 2006 | β |
| Inference of splicing regulatory activities by sequence neighborhood analysis. | Stadler MB et al. | β | 2006 | β |
| In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects. | Lastella P et al. | β | 2006 | β |
| Intronic alternative splicing regulators identified by comparative genomics in nematodes. | Kabat JL et al. | β | 2006 | β |
| Large-scale identification and characterization of alternative splicing variants of human gene transcripts using 56,419 completely sequenced and manually annotated full-length cDNAs. | Takeda J et al. | β | 2006 | β |
| LINE-1 RNA splicing and influences on mammalian gene expression. | Belancio VP et al. | β | 2006 | β |
| LINE FUSION GENES: a database of LINE expression in human genes. | Kim DS et al. | β | 2006 | β |
| Linking splicing to Pol II transcription stabilizes pre-mRNAs and influences splicing patterns. | Hicks MJ et al. | β | 2006 | β |
| Method of predicting splice sites based on signal interactions. | Churbanov A et al. | β | 2006 | β |
| Mild Nijmegen breakage syndrome phenotype due to alternative splicing. | Varon R et al. | β | 2006 | β |
| Molecular basis of RNA recognition and TAP binding by the SR proteins SRp20 and 9G8. | Hargous Y et al. | β | 2006 | β |
| Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts. | Lualdi S et al. | β | 2006 | β |
| Mutational screening of ARX gene in Brazilian males with mental retardation of unknown etiology. | de Souza Gestinari-Duarte R et al. | β | 2006 | β |
| Mutation analysis of the 8p22 candidate tumor suppressor gene ATIP/MTUS1 in hepatocellular carcinoma. | Di Benedetto M et al. | β | 2006 | β |
| Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis. | Corut A et al. | β | 2006 | β |
| Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. | den Hollander AI et al. | β | 2006 | β |
| NF1 mRNA biogenesis: effect of the genomic milieu in splicing regulation of the NF1 exon 37 region. | Baralle M et al. | β | 2006 | β |
| Phenotypic consequences of branch point substitutions. | KrΓ‘lovicovΓ‘ J et al. | β | 2006 | β |
| Phylogenetically widespread alternative splicing at unusual GYNGYN donors. | Hiller M et al. | β | 2006 | β |
| PTEN c.511C>T nonsense mutation in a BRRS family disrupts a potential exonic splicing enhancer and causes exon skipping. | Suphapeetiporn K et al. | β | 2006 | β |
| Regulation of CD44 alternative splicing by SRm160 and its potential role in tumor cell invasion. | Cheng C et al. | β | 2006 | β |
| Screening for MECP2 mutations in Spanish patients with an unexplained mental retardation. | Tejada MI et al. | β | 2006 | β |
| Sequencing of the factor 8(F8) coding regions in 10 Turkish hemophilia A patients reveals three novel pathological mutations, and one rediagnosis of von Willebrand's disease type 2N. | Berber E 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 |
| Synonymous SNPs provide evidence for selective constraint on human exonic splicing enhancers. | Carlini DB et al. | β | 2006 | β |
| Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing. | Auclair J 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 origins of eukaryotic gene structure. | Lynch M | β | 2006 | β |
| Therapeutic modulation of DMD splicing by blocking exonic splicing enhancer sites with antisense oligonucleotides. | Aartsma-Rus A et al. | β | 2006 | β |
| The splicing regulators Tra and Tra2 are unusually potent activators of pre-mRNA splicing. | Sciabica KS et al. | β | 2006 | β |
| The Tgif2 gene contains a retained intron within the coding sequence. | Melhuish TA et al. | β | 2006 | β |
| Unweaving the meanings of messenger RNA sequences. | GuigΓ³ R et al. | β | 2006 | β |
| A combinatorial code for splicing silencing: UAGG and GGGG motifs. | Han K et al. | β | 2005 | β |
| A large-scale analysis of mRNA polyadenylation of human and mouse genes. | Tian B et al. | β | 2005 | β |
| Alleviation of benzo[a]pyrene-diolepoxide-DNA damage in human lung carcinoma by glutathione S-transferase M2. | Weng MW et al. | β | 2005 | β |
| Alterations of pre-mRNA splicing in cancer. | Kalnina Z et al. | β | 2005 | β |
| Alternative pre-mRNA splicing in the human system: unexpected role of repetitive sequences as regulatory elements. | Hui J et al. | β | 2005 | β |
| Alternative splicing induced by nonsense mutations in the immunoglobulin mu VDJ exon is independent of truncation of the open reading frame. | BΓΌhler M et al. | β | 2005 | β |
| Alternative splicing of MDM2 mRNA in lung carcinomas and lung cell lines. | Weng MW et al. | β | 2005 | β |
| Alternative splicing of type II procollagen exon 2 is regulated by the combination of a weak 5' splice site and an adjacent intronic stem-loop cis element. | McAlinden A et al. | β | 2005 | β |
| A microarray configuration to quantify expression levels and relative abundance of splice variants. | Fehlbaum P et al. | β | 2005 | β |
| A simple answer for a splicing conundrum. | Black DL | β | 2005 | β |
| A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor. | Ramser J et al. | β | 2005 | β |
| Biased codon usage near intron-exon junctions: selection on splicing enhancers, splice-site recognition or something else? | Chamary JV et al. | β | 2005 | β |
| Biased exon/intron distribution of cryptic and de novo 3' splice sites. | KrΓ‘lovicovΓ‘ J et al. | β | 2005 | β |
| Bioinformatic identification of candidate cis-regulatory elements involved in human mRNA polyadenylation. | Hu 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 |
| Dephosphorylation-dependent sorting of SR splicing factors during mRNP maturation. | Lin S et al. | β | 2005 | β |
| Dichotomous splicing signals in exon flanks. | Zhang XH et al. | β | 2005 | β |
| Discovery of novel flavin-containing monooxygenase 3 (FMO3) single nucleotide polymorphisms and functional analysis of upstream haplotype variants. | Koukouritaki SB et al. | β | 2005 | β |
| Distribution of SR protein exonic splicing enhancer motifs in human protein-coding genes. | Wang J et al. | β | 2005 | β |
| Exonic splicing enhancers in fission yeast: functional conservation demonstrates an early evolutionary origin. | Webb CJ 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 |
| Finding short DNA motifs using permuted Markov models. | Zhao X et al. | β | 2005 | β |
| Hereditary angioedema: the mutation spectrum of SERPING1/C1NH in a large Spanish cohort. | Roche O 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 |
| Identification of two further splice variants of GABABR1 characterizes the conserved micro-exon 4 as a hot spot for regulated splicing in the rat brain. | Holter J et al. | β | 2005 | β |
| Insights into the mechanisms of splicing: more lessons from the ribosome. | Konarska MM et al. | β | 2005 | β |
| Intronic CA-repeat and CA-rich elements: a new class of regulators of mammalian alternative splicing. | Hui J et al. | β | 2005 | β |
| Intronic sequence variants of the CDKN2A gene in melanoma pedigrees. | Harland M et al. | β | 2005 | β |
| Linking C5 deficiency to an exonic splicing enhancer mutation. | Pfarr N et al. | β | 2005 | β |
| Mutation spectrum leading to an attenuated phenotype in dystrophinopathies. | Tuffery-Giraud S et al. | β | 2005 | β |
| Nonsense-associated alternative splicing of T-cell receptor beta genes: no evidence for frame dependence. | Mohn F et al. | β | 2005 | β |
| Nova autoregulation reveals dual functions in neuronal splicing. | Dredge BK 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 |
| Quantifying optimal accuracy of local primary sequence bioinformatics methods. | Aalberts DP et al. | β | 2005 | β |
| Silencing p21(Waf1/Cip1/Sdi1) expression increases gene transduction efficiency in primitive human hematopoietic cells. | Zhang J et al. | β | 2005 | β |
| SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation. | Saifi GM et al. | β | 2005 | β |
| Single nucleotide polymorphisms as a prerequisite for autoantigens. | Stadler MB et al. | β | 2005 | β |
| Splicing in action: assessing disease causing sequence changes. | Baralle D 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 Alu insertion in the CLCN5 gene of a patient with Dent's disease leads to exon 11 skipping. | Claverie-MartΓn F et al. | β | 2005 | β |
| The discovery of split genes and RNA splicing. | Sharp PA | β | 2005 | β |
| The molecular elements that underlie developmental evolution. | Alonso CR 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 |
| Up-regulation of the ubiquitous alternative splicing factor Tra2beta causes inclusion of a germ cell-specific exon. | Venables JP et al. | β | 2005 | β |
| Alternative splicing in disease and therapy. | Garcia-Blanco MA et al. | β | 2004 | β |
| A molecular code for splicing silencing: configurations of guanosine-rich motifs. | Grabowski PJ | β | 2004 | β |
| Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. | Abkevich V et al. | β | 2004 | β |
| An extended inhibitory context causes skipping of exon 7 of SMN2 in spinal muscular atrophy. | Singh NN et al. | β | 2004 | β |
| A novel IMPDH1 mutation (Arg231Pro) in a family with a severe form of autosomal dominant retinitis pigmentosa. | Grover S et al. | β | 2004 | β |
| A survey of splice variants of the human hypoxanthine phosphoribosyl transferase and DNA polymerase beta genes: products of alternative or aberrant splicing? | Skandalis A et al. | β | 2004 | β |
| Branch site haplotypes that control alternative splicing. | KrΓ‘lovicovΓ‘ J et al. | β | 2004 | β |
| Bridging expressed sequence alignments through targeted cDNA sequencing. | Xie H et al. | β | 2004 | β |
| Broad specificity of SR (serine/arginine) proteins in the regulation of alternative splicing of pre-messenger RNA. | Bourgeois CF et al. | β | 2004 | β |
| Computational comparative analyses of alternative splicing regulation using full-length cDNA of various eukaryotes. | Itoh H et al. | β | 2004 | β |
| Computational definition of sequence motifs governing constitutive exon splicing. | Zhang XH et al. | β | 2004 | β |
| Developmental and tissue-specific regulation of a novel dysferlin isoform. | Salani S et al. | β | 2004 | β |
| Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1. | Zatkova A et al. | β | 2004 | β |
| Ex vivo analysis of aberrant splicing induced by two donor site mutations in PKLR of a patient with severe pyruvate kinase deficiency. | Wijk R et al. | β | 2004 | β |
| Genomic variants in exons and introns: identifying the splicing spoilers. | Pagani F et al. | β | 2004 | β |
| In vivo selection reveals combinatorial controls that define a critical exon in the spinal muscular atrophy genes. | Singh NN et al. | β | 2004 | β |
| Involvement of SR proteins in mRNA surveillance. | Zhang Z et al. | β | 2004 | β |
| Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. | Yeo G et al. | β | 2004 | β |
| Molecular cloning and characterization of chemokine-like factor super family member 1 (CKLFSF1), a novel human gene with at least 23 alternative splicing isoforms in testis tissue. | Wang L et al. | β | 2004 | β |
| Natural selection affects frequencies of AG and GT dinucleotides at the 5' and 3' ends of exons. | Eskesen ST et al. | β | 2004 | β |
| Over-representation of exonic splicing enhancers in human intronless genes suggests multiple functions in mRNA processing. | Pozzoli U et al. | β | 2004 | β |
| Patterns of flanking sequence conservation and a characteristic upstream motif for microRNA gene identification. | Ohler U et al. | β | 2004 | β |
| Recent advances in gene structure prediction. | Brent MR et al. | β | 2004 | β |
| Regulation of alternative RNA splicing by exon definition and exon sequences in viral and mammalian gene expression. | Zheng ZM | β | 2004 | β |
| Regulation of protein diversity by alternative pre-mRNA splicing with specific focus on chondrogenesis. | McAlinden A et al. | β | 2004 | β |
| RESCUE-ESE identifies candidate exonic splicing enhancers in vertebrate exons. | Fairbrother WG et al. | β | 2004 | β |
| Silencer elements as possible inhibitors of pseudoexon splicing. | Sironi M et al. | β | 2004 | β |
| Single nucleotide polymorphism-based validation of exonic splicing enhancers. | Fairbrother WG et al. | β | 2004 | β |
| Systematic identification and analysis of exonic splicing silencers. | Wang Z et al. | β | 2004 | β |
| The multiassembly problem: reconstructing multiple transcript isoforms from EST fragment mixtures. | Xing Y et al. | β | 2004 | β |
| The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR alleles. | Steiner B et al. | β | 2004 | β |
| Towards a splicing code. | Fu XD | β | 2004 | β |
| Variation in alternative splicing across human tissues. | Yeo G et al. | β | 2004 | β |
| Variation in sequence and organization of splicing regulatory elements in vertebrate genes. | Yeo G et al. | β | 2004 | β |
| A conserved signal-responsive sequence mediates activation-induced alternative splicing of CD45. | Rothrock C et al. | β | 2003 | β |
| Analysis of the transcription regulator, CNOT7, as a candidate chromosome 8 tumor suppressor gene in colorectal cancer. | Flanagan J et al. | β | 2003 | β |
| A novel RNA splicing-mediated gene silencing mechanism potential for genome evolution. | Lin SL et al. | β | 2003 | β |
| A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome. | O'Driscoll M et al. | β | 2003 | β |
| Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts. | Skordis LA et al. | β | 2003 | β |
| ESEfinder: A web resource to identify exonic splicing enhancers. | Cartegni L et al. | β | 2003 | β |
| Genomic definition of a pure intronic dystrophin deletion responsible for an XLDC splicing mutation: in vitro mimicking and antisense modulation of the splicing abnormality. | Gualandi F et al. | β | 2003 | β |
| Impact of alternative initiation, splicing, and termination on the diversity of the mRNA transcripts encoded by the mouse transcriptome. | Zavolan M et al. | β | 2003 | β |
| Intronic sequences flanking alternatively spliced exons are conserved between human and mouse. | Sorek R et al. | β | 2003 | β |
| Large scale study of protein domain distribution in the context of alternative splicing. | Liu S et al. | β | 2003 | β |
| Mechanisms of alternative pre-messenger RNA splicing. | Black DL | β | 2003 | β |
| Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9. | Pagani F et al. | β | 2003 | β |
| NF1 exon 7 skipping and sequence alterations in exonic splice enhancers (ESEs) in a neurofibromatosis 1 patient. | Colapietro P et al. | β | 2003 | β |
| Nucleotide frequency variation across human genes. | Louie E et al. | β | 2003 | β |
| Pre-mRNA splicing and human disease. | Faustino NA et al. | β | 2003 | β |
| Splicing 2002: RNA splicing in human pathology. | Einstein R | β | 2003 | β |
| Splicing goes global. | Barrass JD et al. | β | 2003 | β |
| Statistical significance for genomewide studies. | Storey JD et al. | β | 2003 | β |
| The relevance of alternative RNA splicing to pharmacogenomics. | Bracco L et al. | β | 2003 | β |
| Transcript analysis of the cystic fibrosis splicing mutation 1525-1G>A shows use of multiple alternative splicing sites and suggests a putative role of exonic splicing enhancers. | Ramalho AS et al. | β | 2003 | β |
| Widespread selection for local RNA secondary structure in coding regions of bacterial genes. | Katz L et al. | β | 2003 | β |
| Apollo: a sequence annotation editor. | Lewis SE et al. | β | 2002 | β |
| Distribution and characterization of regulatory elements in the human genome. | Majewski J et al. | β | 2002 | β |
| Finding signals that regulate alternative splicing in the post-genomic era. | Ladd AN et al. | β | 2002 | β |
| NASty effects on fibrillin pre-mRNA splicing: another case of ESE does it, but proposals for translation-dependent splice site choice live on. | Maquat LE | β | 2002 | β |
| Sequence of Plasmodium falciparum chromosomes 2, 10, 11 and 14. | Gardner MJ et al. | β | 2002 | β |