{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T13:40:16Z","timestamp":1791207616876,"version":"4.1.0"},"reference-count":76,"publisher":"Hindawi Limited","issue":"1","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":3165,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum. Mutat."],"published-print":{"date-parts":[[2007,1]]},"DOI":"10.1002\/humu.20401","type":"journal-article","created":{"date-parts":[[2006,9,8]],"date-time":"2006-09-08T20:29:55Z","timestamp":1157747395000},"page":"41-53","source":"Crossref","is-referenced-by-count":50,"title":["Weak definition of<i>IKBKAP<\/i>exon 20 leads to aberrant splicing in familial dysautonomia"],"prefix":"10.1155","volume":"28","author":[{"given":"El Ch\u00e9rif","family":"Ibrahim","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew M.","family":"Hims","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noam","family":"Shomron","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher B.","family":"Burge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan A.","family":"Slaugenhaupt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robin","family":"Reed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"98","reference":[{"key":"10.1002\/humu.20401-BIB1","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1016\/0092-8674(86)90620-3","article-title":"Sequence requirements for splicing of higher eukaryotic nuclear pre-mRNA","volume":"47","author":"Aebi","year":"1986","journal-title":"Cell"},{"key":"10.1002\/humu.20401-BIB2","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1086\/318808","article-title":"Familial dysautonomia is caused by mutations of the IKAP gene","volume":"68","author":"Anderson","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.20401-BIB3","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1016\/j.bbrc.2003.09.019","article-title":"EGCG corrects aberrant splicing of IKAP mRNA in cells from patients with familial dysautonomia","volume":"310","author":"Anderson","year":"2003","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1002\/humu.20401-BIB4","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1016\/j.ymthe.2006.01.012","article-title":"Stimulating full-length SMN2 expression by delivering bifunctional RNAs via a viral vector","volume":"14","author":"Baughan","year":"2006","journal-title":"Mol Ther"},{"key":"10.1002\/humu.20401-BIB5","doi-asserted-by":"crossref","first-page":"1986","DOI":"10.1101\/gad.6.10.1986","article-title":"Protein components specifically associated with prespliceosome and spliceosome complexes","volume":"6","author":"Bennett","year":"1992","journal-title":"Genes Dev"},{"key":"10.1002\/humu.20401-BIB6","doi-asserted-by":"crossref","first-page":"8487","DOI":"10.1128\/JVI.75.18.8487-8497.2001","article-title":"RNA splicing at human immunodeficiency virus type 1 3\u2032 splice site A2 is regulated by binding of hnRNP A\/B proteins to an exonic splicing silencer element","volume":"75","author":"Bilodeau","year":"2001","journal-title":"J Virol"},{"key":"10.1002\/humu.20401-BIB7","doi-asserted-by":"crossref","first-page":"795","DOI":"10.1016\/0092-8674(92)90291-J","article-title":"Activation of c-src neuron-specific splicing by an unusual RNA element in vivo and in vitro","volume":"69","author":"Black","year":"1992","journal-title":"Cell"},{"key":"10.1002\/humu.20401-BIB8","doi-asserted-by":"crossref","first-page":"29647","DOI":"10.1074\/jbc.M313209200","article-title":"Ser\/Arg-rich protein-mediated communication between U1 and U2 small nuclear ribonucleoprotein particles","volume":"279","author":"Boukis","year":"2004","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.20401-BIB9","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","author":"Carmel","year":"2004","journal-title":"RNA"},{"key":"10.1002\/humu.20401-BIB10","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","author":"Cartegni","year":"2002","journal-title":"Nat Genet"},{"key":"10.1002\/humu.20401-BIB11","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1038\/nsb887","article-title":"Correction of disease-associated exon skipping by synthetic exon-specific activators","volume":"10","author":"Cartegni","year":"2003","journal-title":"Nat Struct Biol"},{"key":"10.1002\/humu.20401-BIB12","doi-asserted-by":"crossref","first-page":"3568","DOI":"10.1093\/nar\/gkg616","article-title":"ESEfinder: a web resource to identify exonic splicing enhancers","volume":"31","author":"Cartegni","year":"2003","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.20401-BIB13","first-page":"1261","article-title":"Familial growth hormone deficiency: a model of dominant and recessive mutations affecting a monomeric protein","volume":"79","author":"Cogan","year":"1994","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1002\/humu.20401-BIB14","doi-asserted-by":"crossref","first-page":"4031","DOI":"10.1074\/jbc.270.8.4031","article-title":"The U1 small nuclear ribonucleoprotein\/5\u2032 splice site interaction affects U2AF65 binding to the downstream 3\u2032 splice site","volume":"270","author":"C\u00f4t\u00e9","year":"1995","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.20401-BIB15","doi-asserted-by":"crossref","first-page":"2529","DOI":"10.1093\/nar\/27.12.2529","article-title":"An element in the 5\u2032 common exon of the NCAM alternative splicing unit interacts with SR proteins and modulates 5\u2032 splice site selection","volume":"27","author":"C\u00f4t\u00e9","year":"1999","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.20401-BIB16","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1086\/368263","article-title":"Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia","volume":"72","author":"Cuajungco","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.20401-BIB17","doi-asserted-by":"crossref","first-page":"1100","DOI":"10.1101\/gad.1397406","article-title":"Functional coupling of RNAP II transcription to spliceosome assembly","volume":"20","author":"Das","year":"2006","journal-title":"Genes Dev"},{"key":"10.1002\/humu.20401-BIB18","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1016\/S1471-4914(03)00068-6","article-title":"Response to Buratti et al.: Can a \u201cpatch\u201d in a skipped exon make the pre-mRNA splicing machine run better?","volume":"9","author":"Eperon","year":"2003","journal-title":"Trends Mol Med"},{"key":"10.1002\/humu.20401-BIB19","doi-asserted-by":"crossref","first-page":"3286","DOI":"10.1128\/MCB.25.8.3286-3294.2005","article-title":"The SR protein SC35 is responsible for aberrant splicing of the E1{alpha} pyruvate dehydrogenase mRNA in a case of mental retardation with lactic acidosis","volume":"25","author":"Gabut","year":"2005","journal-title":"Mol Cell Biol"},{"key":"10.1002\/humu.20401-BIB20","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1038\/nbt964","article-title":"Alternative splicing in disease and therapy","volume":"22","author":"Garcia-Blanco","year":"2004","journal-title":"Nat Biotechnol"},{"key":"10.1002\/humu.20401-BIB21","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1186\/1472-6750-6-5","article-title":"Modulation of 5\u2032 splice site selection using tailed oligonucleotides carrying splicing signals","volume":"6","author":"Gendron","year":"2006","journal-title":"BMC Biotechnol"},{"key":"10.1002\/humu.20401-BIB22","doi-asserted-by":"crossref","first-page":"1325","DOI":"10.1017\/S1355838200992537","article-title":"Coupled in vitro synthesis and splicing of RNA polymerase II transcripts","volume":"6","author":"Ghosh","year":"2000","journal-title":"RNA"},{"key":"10.1002\/humu.20401-BIB23","doi-asserted-by":"crossref","first-page":"806","DOI":"10.1017\/S1355838201010317","article-title":"The role of U2AF35 and U2AF65 in enhancer-dependent splicing","volume":"7","author":"Graveley","year":"2001","journal-title":"RNA"},{"key":"10.1002\/humu.20401-BIB24","doi-asserted-by":"crossref","first-page":"e158","DOI":"10.1371\/journal.pbio.0030158","article-title":"A combinatorial code for splicing silencing: UAGG and GGGG motifs","volume":"3","author":"Han","year":"2005","journal-title":"PLoS Biol"},{"key":"10.1002\/humu.20401-BIB25","first-page":"430","article-title":"Regulated tissue-specific expression of antagonistic pre-mRNA splicing factors","volume":"4","author":"Hanamura","year":"1998","journal-title":"RNA"},{"key":"10.1002\/humu.20401-BIB26","doi-asserted-by":"crossref","first-page":"3047","DOI":"10.1074\/jbc.M110445200","article-title":"Purification and characterization of the human elongator complex","volume":"277","author":"Hawkes","year":"2002","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.20401-BIB27","doi-asserted-by":"crossref","first-page":"e147","DOI":"10.1371\/journal.pbio.0040147","article-title":"Linking splicing to Pol II transcription stabilizes pre-mRNAs and influences splicing patterns","volume":"4","author":"Hicks","year":"2006","journal-title":"PLoS Biol"},{"key":"10.1002\/humu.20401-BIB28","doi-asserted-by":"crossref","first-page":"D56","DOI":"10.1093\/nar\/gkj048","article-title":"HOLLYWOOD: a comparative relational database of alternative splicing","volume":"34","author":"Holste","year":"2006","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.20401-BIB29","doi-asserted-by":"crossref","first-page":"6195","DOI":"10.1093\/emboj\/cdf625","article-title":"Decrease in hnRNP A\/B expression during erythropoiesis mediates a pre-mRNA splicing switch","volume":"21","author":"Hou","year":"2002","journal-title":"EMBO J"},{"key":"10.1002\/humu.20401-BIB30","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1128\/MCB.25.1.250-263.2005","article-title":"A novel intronic cis element, ISE\/ISS-3, regulates rat fibroblast growth factor receptor 2 splicing through activation of an upstream exon and repression of a downstream exon containing a noncanonical branch point sequence","volume":"25","author":"Hovhannisyan","year":"2005","journal-title":"Mol Cell Biol"},{"key":"10.1002\/humu.20401-BIB31","doi-asserted-by":"crossref","first-page":"5002","DOI":"10.1073\/pnas.0500543102","article-title":"Serine\/arginine-rich protein-dependent suppression of exon skipping by exonic splicing enhancers","volume":"102","author":"Ibrahim","year":"2005","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.20401-BIB32","doi-asserted-by":"crossref","first-page":"4036","DOI":"10.1128\/MCB.20.11.4036-4048.2000","article-title":"Aberrant splicing of tau pre-mRNA caused by intronic mutations associated with the inherited dementia frontotemporal dementia with parkinsonism linked to chromosome 17","volume":"20","author":"Jiang","year":"2000","journal-title":"Mol Cell Biol"},{"key":"10.1002\/humu.20401-BIB33","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1006\/excr.1995.1366","article-title":"Cell type-specific expression of hnRNP proteins","volume":"221","author":"Kamma","year":"1995","journal-title":"Exp Cell Res"},{"key":"10.1002\/humu.20401-BIB34","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1006\/excr.1998.4323","article-title":"Molecular characterization of the hnRNP A2\/B1 proteins: tissue-specific expression and novel isoforms","volume":"246","author":"Kamma","year":"1999","journal-title":"Exp Cell Res"},{"key":"10.1002\/humu.20401-BIB35","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1038\/368119a0","article-title":"Protein-protein interactions and 5\u2032-splice-site recognition in mammalian mRNA precursors","volume":"368","author":"Kohtz","year":"1994","journal-title":"Nature"},{"key":"10.1002\/humu.20401-BIB36","first-page":"229","article-title":"Antisense effects in the cell nucleus: modification of splicing","volume":"3","author":"Kole","year":"2001","journal-title":"Curr Opin Mol Ther"},{"key":"10.1002\/humu.20401-BIB37","doi-asserted-by":"crossref","first-page":"6979","DOI":"10.1128\/MCB.22.20.6979-6992.2002","article-title":"RNA polymerase II elongation factors of Saccharomyces cerevisiae: a targeted proteomics approach","volume":"22","author":"Krogan","year":"2002","journal-title":"Mol Cell Biol"},{"key":"10.1002\/humu.20401-BIB38","doi-asserted-by":"crossref","first-page":"1233","DOI":"10.1017\/S1355838202028030","article-title":"A general role for splicing enhancers in exon definition","volume":"8","author":"Lam","year":"2002","journal-title":"RNA"},{"key":"10.1002\/humu.20401-BIB39","doi-asserted-by":"crossref","first-page":"3428","DOI":"10.1128\/MCB.7.10.3428","article-title":"In vitro splicing pathways of pre-mRNAs containing multiple intervening sequences?","volume":"7","author":"Lang","year":"1987","journal-title":"Mol Cell Biol"},{"key":"10.1002\/humu.20401-BIB40","doi-asserted-by":"crossref","first-page":"2405","DOI":"10.1101\/gad.7.12a.2405","article-title":"A splicing enhancer in the human fibronectin alternate ED1 exon interacts with SR proteins and stimulates U2 snRNP binding","volume":"7","author":"Lavigueur","year":"1993","journal-title":"Genes Dev"},{"key":"10.1002\/humu.20401-BIB41","doi-asserted-by":"crossref","first-page":"29628","DOI":"10.1074\/jbc.C100274200","article-title":"A multiprotein complex that interacts with RNA polymerase II elongator","volume":"276","author":"Li","year":"2001","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.20401-BIB42","doi-asserted-by":"crossref","first-page":"11193","DOI":"10.1073\/pnas.201407298","article-title":"A computational analysis of sequence features involved in recognition of short introns","volume":"98","author":"Lim","year":"2001","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.20401-BIB43","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1038\/83762","article-title":"A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes","volume":"27","author":"Liu","year":"2001","journal-title":"Nat Genet"},{"key":"10.1002\/humu.20401-BIB44","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1136\/jmg.30.5.376","article-title":"A T+6 to C+6 mutation in the donor splice site of COL3A1 IVS7 causes exon skipping and results in Ehlers-Danlos syndrome type IV","volume":"30","author":"Lloyd","year":"1993","journal-title":"J Med Genet"},{"key":"10.1002\/humu.20401-BIB45","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1016\/j.ymeth.2005.07.013","article-title":"In vitro coupled transcription splicing","volume":"37","author":"Natalizio","year":"2005","journal-title":"Methods"},{"key":"10.1002\/humu.20401-BIB46","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1002\/humu.9012","article-title":"Seven novel sequence variants in the human low density lipoprotein receptor related protein 5 (LRP5) gene","volume":"19","author":"Okubo","year":"2002","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.20401-BIB47","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/S1097-2765(00)80179-3","article-title":"Elongator, a multisubunit component of a novel RNA polymerase II holoenzyme for transcriptional elongation","volume":"3","author":"Otero","year":"1999","journal-title":"Mol Cell"},{"key":"10.1002\/humu.20401-BIB48","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","author":"Pagani","year":"2003","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.20401-BIB49","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1016\/S1097-2765(02)00502-6","article-title":"Exchange of RNA polymerase II initiation and elongation factors during gene expression in vivo","volume":"9","author":"Pokholok","year":"2002","journal-title":"Mol Cell"},{"key":"10.1002\/humu.20401-BIB50","first-page":"1928","article-title":"Spatio-temporal expression of the trans-acting splicing factors SF2\/ASF and heterogeneous ribonuclear proteins A1\/A1B in the myometrium of the pregnant human uterus: a molecular mechanism for regulating regional protein isoform expression in vivo","volume":"85","author":"Pollard","year":"2000","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1002\/humu.20401-BIB51","doi-asserted-by":"crossref","first-page":"15241","DOI":"10.1074\/jbc.M109046200","article-title":"Alternative splicing of the adenylyl cyclase stimulatory G-protein G alpha(s) is regulated by SF2\/ASF and heterogeneous nuclear ribonucleoprotein A1 (hnRNPA1) and involves the use of an unusual TG 3\u2032-splice Site","volume":"277","author":"Pollard","year":"2002","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.20401-BIB52","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1016\/j.molcel.2005.02.018","article-title":"Elp1p, the yeast homolog of the FD disease syndrome protein, negatively regulates exocytosis independently of transcriptional elongation","volume":"17","author":"Rahl","year":"2005","journal-title":"Mol Cell"},{"key":"10.1002\/humu.20401-BIB53","doi-asserted-by":"crossref","first-page":"5568","DOI":"10.1093\/nar\/26.24.5568","article-title":"Co-transcriptional commitment to alternative splice site selection","volume":"26","author":"Roberts","year":"1998","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.20401-BIB54","doi-asserted-by":"crossref","first-page":"11222","DOI":"10.1016\/S0021-9258(18)82114-7","article-title":"A mutational analysis of the polypyrimidine tract of introns. Effects of sequence differences in pyrimidine tracts on splicing","volume":"268","author":"Roscigno","year":"1993","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.20401-BIB55","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1128\/MCB.19.1.261","article-title":"Multiple distinct splicing enhancers in the protein-coding sequences of a constitutively spliced pre-mRNA","volume":"19","author":"Schaal","year":"1999","journal-title":"Mol Cell Biol"},{"key":"10.1002\/humu.20401-BIB56","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1017\/S1355838299981050","article-title":"Exonic splicing enhancers contribute to the use of both 3\u2032 and 5\u2032 splice site usage of rat \u03b2-tropomyosin pre-mRNA","volume":"5","author":"Selvakumar","year":"1999","journal-title":"RNA"},{"key":"10.1002\/humu.20401-BIB57","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1016\/0076-6879(90)83018-5","article-title":"Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project","volume":"183","author":"Senapathy","year":"1990","journal-title":"Methods Enzymol"},{"key":"10.1002\/humu.20401-BIB58","doi-asserted-by":"crossref","first-page":"7155","DOI":"10.1093\/nar\/15.17.7155","article-title":"RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression","volume":"15","author":"Shapiro","year":"1987","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.20401-BIB59","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1093\/nar\/25.4.861","article-title":"Splicing efficiency of human immunodeficiency virus type 1 tat RNA is determined by both a suboptimal 3\u2032 splice site and a 10 nucleotide exon splicing silencer element located within tat exon 2","volume":"25","author":"Si","year":"1997","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.20401-BIB60","doi-asserted-by":"crossref","first-page":"5404","DOI":"10.1128\/MCB.18.9.5404","article-title":"The exon splicing silencer in human immunodeficiency virus type 1 Tat exon 3 is bipartite and acts early in spliceosome assembly","volume":"18","author":"Si","year":"1998","journal-title":"Mol Cell Biol"},{"key":"10.1002\/humu.20401-BIB61","doi-asserted-by":"crossref","first-page":"4114","DOI":"10.1073\/pnas.0633863100","article-title":"Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts","volume":"100","author":"Skordis","year":"2003","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.20401-BIB62","doi-asserted-by":"crossref","first-page":"598","DOI":"10.1086\/318810","article-title":"Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia","volume":"68","author":"Slaugenhaupt","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.20401-BIB63","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1093\/hmg\/ddh046","article-title":"Rescue of a human mRNA splicing defect by the plant cytokinin kinetin","volume":"13","author":"Slaugenhaupt","year":"2004","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.20401-BIB64","doi-asserted-by":"crossref","first-page":"4939","DOI":"10.1128\/MCB.13.8.4939","article-title":"Scanning and competition between AGs are involved in 3\u2032 splice site selection in mammalian introns","volume":"13","author":"Smith","year":"1993","journal-title":"Mol Cell Biol"},{"key":"10.1002\/humu.20401-BIB65","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1002\/humu.10212","article-title":"Human Gene Mutation Database (HGMD): 2003 update","volume":"21","author":"Stenson","year":"2003","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.20401-BIB66","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1038\/302591a0","article-title":"Specific transcription and RNA splicing defects in five cloned beta-thalassaemia genes","volume":"302","author":"Treisman","year":"1983","journal-title":"Nature"},{"key":"10.1002\/humu.20401-BIB67","doi-asserted-by":"crossref","first-page":"50031","DOI":"10.1074\/jbc.M308897200","article-title":"Reprogramming alternative pre-messenger RNA splicing through the use of protein-binding antisense oligonucleotides","volume":"278","author":"Villemaire","year":"2003","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.20401-BIB68","first-page":"21","article-title":"Intrinsic U2AF binding is modulated by exon enhancer signals in parallel with changes in splicing activity","volume":"1","author":"Wang","year":"1995","journal-title":"RNA"},{"key":"10.1002\/humu.20401-BIB69","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1016\/j.cell.2004.11.010","article-title":"Systematic identification and analysis of exonic splicing silencers","volume":"119","author":"Wang","year":"2004","journal-title":"Cell"},{"key":"10.1002\/humu.20401-BIB70","doi-asserted-by":"crossref","first-page":"5053","DOI":"10.1093\/nar\/gki810","article-title":"Distribution of SR protein exonic splicing enhancer motifs in human protein-coding genes","volume":"33","author":"Wang","year":"2005","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.20401-BIB71","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1016\/0092-8674(93)90316-I","article-title":"Specific interactions between proteins implicated in splice site selection and regulated alternative splicing","volume":"75","author":"Wu","year":"1993","journal-title":"Cell"},{"key":"10.1002\/humu.20401-BIB72","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1002\/ijc.10633","article-title":"E-cadherin gene variants in gastric cancer families whose probands are diagnosed with diffuse gastric cancer","volume":"101","author":"Yabuta","year":"2002","journal-title":"Int J Cancer"},{"key":"10.1002\/humu.20401-BIB73","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1089\/1066527041410418","article-title":"Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals","volume":"11","author":"Yeo","year":"2004","journal-title":"J Comput Biol"},{"key":"10.1002\/humu.20401-BIB74","doi-asserted-by":"crossref","first-page":"10077","DOI":"10.1074\/jbc.M312743200","article-title":"SC35 and heterogeneous nuclear ribonucleoprotein A\/B proteins bind to a juxtaposed exonic splicing enhancer\/exonic splicing silencer element to regulate HIV-1 tat exon 2 splicing","volume":"279","author":"Zahler","year":"2004","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.20401-BIB75","doi-asserted-by":"crossref","first-page":"1351","DOI":"10.1016\/S1097-2765(01)00409-9","article-title":"Exon identity established through differential antagonism between exonic splicing silencer-bound hnRNP A1 and enhancer-bound SR proteins","volume":"8","author":"Zhu","year":"2001","journal-title":"Mol Cell"},{"key":"10.1002\/humu.20401-BIB76","doi-asserted-by":"crossref","first-page":"1356","DOI":"10.1101\/gad.10.11.1356","article-title":"The splicing factor U2AF35 mediates critical protein-protein interactions in constitutive and enhancer-dependent splicing","volume":"10","author":"Zuo","year":"1996","journal-title":"Genes Dev"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.20401","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.20401","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:53:38Z","timestamp":1672332818000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.20401"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,1]]},"references-count":76,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2007,1]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.20401","relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,1]]}}}