{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T20:08:32Z","timestamp":1791317312772,"version":"4.3.1"},"reference-count":48,"publisher":"Oxford University Press (OUP)","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2012,6,1]]},"DOI":"10.1093\/hmg\/dds045","type":"journal-article","created":{"date-parts":[[2012,2,23]],"date-time":"2012-02-23T21:53:06Z","timestamp":1330033986000},"page":"2389-2398","source":"Crossref","is-referenced-by-count":102,"title":["An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects"],"prefix":"10.1093","volume":"21","author":[{"given":"Eugenio","family":"Fernandez Alanis","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirko","family":"Pinotti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Dal Mas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dario","family":"Balestra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Cavallari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malgorzata E.","family":"Rogalska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Bernardi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franco","family":"Pagani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2012,2,23]]},"reference":[{"key":"key\n\t\t\t\t20170522172258_DDS045C1","first-page":"41","article-title":"The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences","volume":"90","year":"1992","journal-title":"Hum. Genet."},{"key":"key\n\t\t\t\t20170522172258_DDS045C2","doi-asserted-by":"crossref","first-page":"1617","DOI":"10.1086\/302418","article-title":"Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences","volume":"64","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170522172258_DDS045C3","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1093\/hmg\/9.2.237","article-title":"Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1","volume":"9","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522172258_DDS045C4","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1038\/nrg1327","article-title":"Genomic variants in exons and introns: identifying the splicing spoilers","volume":"5","year":"2004","journal-title":"Nat. Rev. Genet."},{"key":"key\n\t\t\t\t20170522172258_DDS045C5","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nrg775","article-title":"Listening to silence and understanding nonsense: exonic mutations that affect splicing","volume":"3","year":"2002","journal-title":"Nat. Rev. Genet."},{"key":"key\n\t\t\t\t20170522172258_DDS045C6","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1038\/nrg2164","article-title":"Splicing in disease: disruption of the splicing code and the decoding machinery","volume":"8","year":"2007","journal-title":"Nat. Rev. Genet."},{"key":"key\n\t\t\t\t20170522172258_DDS045C7","doi-asserted-by":"crossref","first-page":"1111","DOI":"10.1093\/hmg\/ddg131","article-title":"New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12","volume":"12","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522172258_DDS045C8","doi-asserted-by":"crossref","first-page":"6368","DOI":"10.1073\/pnas.0502288102","article-title":"Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution","volume":"102","year":"2005","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170522172258_DDS045C9","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1038\/nrm2777","article-title":"Mechanisms of alternative splicing regulation: insights from molecular and genomics approaches","volume":"10","year":"2009","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"key\n\t\t\t\t20170522172258_DDS045C10","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1038\/nature08909","article-title":"Expansion of the eukaryotic proteome by alternative splicing","volume":"463","year":"2010","journal-title":"Nature"},{"key":"key\n\t\t\t\t20170522172258_DDS045C11","doi-asserted-by":"crossref","first-page":"2411","DOI":"10.1074\/jbc.270.6.2411","article-title":"Exon recognition in vertebrate splicing","volume":"270","year":"1995","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170522172258_DDS045C12","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1261\/rna.5196404","article-title":"Comparative analysis detects dependencies among the 5\u2032 splice-site positions","volume":"10","year":"2004","journal-title":"RNA"},{"key":"key\n\t\t\t\t20170522172258_DDS045C13","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1136\/jmg.40.3.220","article-title":"Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assay","volume":"40","year":"2003","journal-title":"J. Med. Genet."},{"key":"key\n\t\t\t\t20170522172258_DDS045C14","doi-asserted-by":"crossref","first-page":"6461","DOI":"10.1182\/blood-2009-03-207613","article-title":"Rescue of coagulation factor VII function by the U1+5A snRNA","volume":"113","year":"2009","journal-title":"Blood"},{"key":"key\n\t\t\t\t20170522172258_DDS045C15","doi-asserted-by":"crossref","first-page":"2681","DOI":"10.1182\/blood-2007-10-117440","article-title":"U1-snRNA-mediated rescue of mRNA processing in severe factor VII deficiency","volume":"111","year":"2008","journal-title":"Blood"},{"key":"key\n\t\t\t\t20170522172258_DDS045C16","first-page":"815","article-title":"U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation","volume":"7","year":"2011","journal-title":"Hum. Mutat."},{"key":"key\n\t\t\t\t20170522172258_DDS045C17","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1002\/humu.20861","article-title":"Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNA","volume":"30","year":"2009","journal-title":"Hum. Mutat."},{"key":"key\n\t\t\t\t20170522172258_DDS045C18","doi-asserted-by":"crossref","first-page":"936","DOI":"10.1038\/mt.2011.7","article-title":"Gene therapeutic approach using mutation-adapted U1 snRNA to correct a RPGR splice defect in patient-derived cells","volume":"19","year":"2011","journal-title":"Mol. Ther."},{"key":"key\n\t\t\t\t20170522172258_DDS045C19","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1002\/humu.20076","article-title":"TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA","volume":"24","year":"2004","journal-title":"Hum. Mutat."},{"key":"key\n\t\t\t\t20170522172258_DDS045C20","first-page":"606","article-title":"Reduced splicing efficiency induced by synonymous substitutions may generate a substrate for natural selection of new splicing isoforms: the case of CFTR exon 12","volume":"35","year":"2007","journal-title":"Nucleic Acids Res."},{"key":"key\n\t\t\t\t20170522172258_DDS045C21","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1038\/nsmb.1546","article-title":"Recognition of atypical 5\u2032 splice sites by shifted base-pairing to U1 snRNA","volume":"16","year":"2009","journal-title":"Nat. Struct. Mol. Biol."},{"key":"key\n\t\t\t\t20170522172258_DDS045C22","doi-asserted-by":"crossref","first-page":"10470","DOI":"10.1073\/pnas.91.22.10470","article-title":"Suppression of mammalian 5\u2032 splice-site defects by U1 small nuclear RNAs from a distance","volume":"91","year":"1994","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170522172258_DDS045C23","doi-asserted-by":"crossref","first-page":"7099","DOI":"10.1128\/MCB.17.12.7099","article-title":"U1 small nuclear RNA-promoted exon selection requires a minimal distance between the position of U1 binding and the 3\u2032 splice site across the exon","volume":"17","year":"1997","journal-title":"Mol. Cell Biol."},{"key":"key\n\t\t\t\t20170522172258_DDS045C24","doi-asserted-by":"crossref","first-page":"6307","DOI":"10.1073\/pnas.96.11.6307","article-title":"A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy","volume":"96","year":"1999","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170522172258_DDS045C25","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1038\/ng854","article-title":"Disruption of an SF2\/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1","volume":"30","year":"2002","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170522172258_DDS045C26","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1093\/hmg\/9.2.259","article-title":"An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN","volume":"9","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522172258_DDS045C27","doi-asserted-by":"crossref","first-page":"1634","DOI":"10.1101\/gad.1941310","article-title":"Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model","volume":"24","year":"2010","journal-title":"Genes Dev."},{"key":"key\n\t\t\t\t20170522172258_DDS045C28","doi-asserted-by":"crossref","first-page":"R111","DOI":"10.1093\/hmg\/ddq147","article-title":"Spinal muscular atrophy: mechanisms and therapeutic strategies","volume":"19","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522172258_DDS045C29","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1093\/hmg\/ddn382","article-title":"Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation","volume":"18","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522172258_DDS045C30","doi-asserted-by":"crossref","first-page":"4929","DOI":"10.1073\/pnas.95.9.4929","article-title":"Stable alteration of pre-mRNA splicing patterns by modified U7 small nuclear RNAs","volume":"95","year":"1998","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170522172258_DDS045C31","doi-asserted-by":"crossref","first-page":"1013","DOI":"10.1016\/j.ymthe.2005.08.022","article-title":"Correction of SMN2 Pre-mRNA splicing by antisense U7 small nuclear RNAs","volume":"12","year":"2005","journal-title":"Mol. Ther."},{"key":"key\n\t\t\t\t20170522172258_DDS045C32","doi-asserted-by":"crossref","first-page":"3752","DOI":"10.1093\/nar\/gkh715","article-title":"Inhibition of HIV-1 multiplication by antisense U7 snRNAs and siRNAs targeting cyclophilin A","volume":"32","year":"2004","journal-title":"Nucleic Acids Res."},{"key":"key\n\t\t\t\t20170522172258_DDS045C33","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1002\/jgm.1027","article-title":"Inhibition of HIV-1 multiplication by a modified U7 snRNA inducing Tat and Rev exon skipping","volume":"9","year":"2007","journal-title":"J. Gene Med."},{"key":"key\n\t\t\t\t20170522172258_DDS045C34","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1038\/nsmb.1958","article-title":"Selective silencing of mutated mRNAs in DM1 by using modified hU7-snRNAs","volume":"18","year":"2011","journal-title":"Nat. Struct. Mol. Biol."},{"key":"key\n\t\t\t\t20170522172258_DDS045C35","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1007\/s10038-007-0192-8","article-title":"U7 snRNA-mediated correction of aberrant splicing caused by activation of cryptic splice sites","volume":"52","year":"2007","journal-title":"J. Hum. Genet."},{"key":"key\n\t\t\t\t20170522172258_DDS045C36","doi-asserted-by":"crossref","first-page":"2815","DOI":"10.1128\/MCB.21.8.2815-2825.2001","article-title":"Reduction of target gene expression by a modified U1 snRNA","volume":"21","year":"2001","journal-title":"Mol. Cell Biol."},{"key":"key\n\t\t\t\t20170522172258_DDS045C37","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1101\/gad.1048803","article-title":"Pre-mRNA splicing and human disease","volume":"17","year":"2003","journal-title":"Genes Dev."},{"key":"key\n\t\t\t\t20170522172258_DDS045C38","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1016\/j.ajhg.2008.01.014","article-title":"Antisense masking of an hnRNP A1\/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice","volume":"82","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170522172258_DDS045C39","doi-asserted-by":"crossref","first-page":"e73","DOI":"10.1371\/journal.pbio.0050073","article-title":"Enhancement of SMN2 exon 7 inclusion by antisense oligonucleotides targeting the exon","volume":"5","year":"2007","journal-title":"PLoS Biol."},{"key":"key\n\t\t\t\t20170522172258_DDS045C40","doi-asserted-by":"crossref","first-page":"495","DOI":"10.4161\/rna.7.4.12744","article-title":"Pro-metastatic splicing of Ron proto-oncogene mRNA can be reversed: therapeutic potential of bifunctional oligonucleotides and indole derivatives","volume":"7","year":"2010","journal-title":"RNA Biol."},{"key":"key\n\t\t\t\t20170522172258_DDS045C41","first-page":"5532","article-title":"Regulation of vascular endothelial growth factor (VEGF) splicing from pro-angiogenic to anti-angiogenic isoforms: a novel therapeutic strategy for angiogenesis","volume":"285","year":"2009","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170522172258_DDS045C42","doi-asserted-by":"crossref","first-page":"5392","DOI":"10.1038\/onc.2010.281","article-title":"The transcription factor E2F1 and the SR protein SC35 control the ratio of pro-angiogenic versus antiangiogenic isoforms of vascular endothelial growth factor-A to inhibit neovascularization in vivo","volume":"29","year":"2010","journal-title":"Oncogene"},{"key":"key\n\t\t\t\t20170522172258_DDS045C43","doi-asserted-by":"crossref","first-page":"2462","DOI":"10.1093\/hmg\/ddp184","article-title":"Activating the synthesis of progerin, the mutant prelamin A in Hutchinson-Gilford progeria syndrome, with antisense oligonucleotides","volume":"18","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522172258_DDS045C44","doi-asserted-by":"crossref","first-page":"12790","DOI":"10.1128\/JVI.01257-10","article-title":"Excessive RNA splicing and inhibition of HIV-1 replication induced by modified U1 small nuclear RNAs","volume":"84","year":"2010","journal-title":"J. Virol."},{"key":"key\n\t\t\t\t20170522172258_DDS045C45","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1101\/gad.6.2.244","article-title":"Association of U6 snRNA with the 5\u2032-splice site region of pre-mRNA in the spliceosome","volume":"6","year":"1992","journal-title":"Genes Dev."},{"key":"key\n\t\t\t\t20170522172258_DDS045C46","doi-asserted-by":"crossref","first-page":"1989","DOI":"10.1126\/science.8266094","article-title":"The U5 and U6 small nuclear RNAs as active site components of the spliceosome","volume":"262","year":"1993","journal-title":"Science"},{"key":"key\n\t\t\t\t20170522172258_DDS045C47","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1038\/ng858","article-title":"A new type of mutation causes a splicing defect in ATM","volume":"30","year":"2002","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170522172258_DDS045C48","doi-asserted-by":"crossref","first-page":"774","DOI":"10.1111\/j.1538-7836.2009.03329.x","article-title":"Major differences in bleeding symptoms between factor VII deficiency and hemophilia B","volume":"7","year":"2009","journal-title":"J. Thromb. Haemost."}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","deposited":{"date-parts":[[2019,6,24]],"date-time":"2019-06-24T01:50:51Z","timestamp":1561341051000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article-lookup\/doi\/10.1093\/hmg\/dds045"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,2,23]]},"references-count":48,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2012,2,23]]},"published-print":{"date-parts":[[2012,6,1]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/dds045","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,2,23]]}}}