{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T21:05:28Z","timestamp":1791234328900,"version":"4.1.0"},"reference-count":31,"publisher":"Public Library of Science (PLoS)","issue":"5","license":[{"start":{"date-parts":[[2011,5,17]],"date-time":"2011-05-17T00:00:00Z","timestamp":1305590400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0020121","type":"journal-article","created":{"date-parts":[[2011,5,17]],"date-time":"2011-05-17T16:58:21Z","timestamp":1305651501000},"page":"e20121","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":39,"title":["A Novel Splice Variant in the N-propeptide of COL5A1 Causes an EDS Phenotype with Severe Kyphoscoliosis and Eye Involvement"],"prefix":"10.1371","volume":"6","author":[{"given":"Sofie","family":"Symoens","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fransiska","family":"Malfait","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip","family":"Vlummens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Trinh","family":"Hermanns-L\u00ea","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Delfien","family":"Syx","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"De Paepe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2011,5,17]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/S0968-4328(00)00043-3","article-title":"Type V collagen: heterotypic type I\/V collagen interactions in the regulation of fibril assembly.","volume":"32","author":"DE Birk","year":"2001","journal-title":"Micron (Oxford, England"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"30083","DOI":"10.1074\/jbc.272.48.30083","article-title":"Human recombinant alpha1(V) collagen chain. Homotrimeric assembly and subsequent processing.","volume":"272","author":"A Fichard","year":"1997","journal-title":"The Journal of biological chemistry"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"5596","DOI":"10.1074\/jbc.M110003200","article-title":"Biosynthetic processing of the pro-alpha 1(V)2pro-alpha 2(V) collagen heterotrimer by bone morphogenetic protein-1 and furin-like proprotein convertases.","volume":"277","author":"C Unsold","year":"2002","journal-title":"The Journal of biological chemistry"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1007\/BF00201664","article-title":"Differential ultrastructural aberrations of collagen fibrils in Ehlers-Danlos syndrome types I\u2013IV as a means of diagnostics and classification.","volume":"93","author":"I Hausser","year":"1994","journal-title":"Hum Genet"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1002\/humu.20107","article-title":"The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients.","volume":"25","author":"F Malfait","year":"2005","journal-title":"Human mutation"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"995","DOI":"10.1002\/humu.21000","article-title":"Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS).","volume":"30","author":"AL Mitchell","year":"2009","journal-title":"Human mutation"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"E395","DOI":"10.1002\/humu.20887","article-title":"COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome.","volume":"30","author":"S Symoens","year":"2009","journal-title":"Human mutation"},{"key":"ref8","first-page":"547","article-title":"Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.","volume":"60","author":"A De Paepe","year":"1997","journal-title":"American journal of human genetics"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"1733","DOI":"10.1093\/hmg\/5.11.1733","article-title":"A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I).","volume":"5","author":"RJ Wenstrup","year":"1996","journal-title":"Human molecular genetics"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1002\/ajmg.10373","article-title":"Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome.","volume":"109","author":"C Giunta","year":"2002","journal-title":"American journal of medical genetics"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1086\/342099","article-title":"Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I.","volume":"71","author":"K Takahara","year":"2002","journal-title":"American journal of human genetics"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1042\/BJ20070051","article-title":"Enzymatic cleavage specificity of the proalpha1(V) chain processing analysed by site-directed mutagenesis.","volume":"405","author":"C Bonod-Bidaud","year":"2007","journal-title":"Biochem J"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"10505","DOI":"10.1128\/MCB.24.24.10505-10514.2004","article-title":"Influence of RNA secondary structure on the pre-mRNA splicing process.","volume":"24","author":"E Buratti","year":"2004","journal-title":"Molecular and cellular biology"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"8692","DOI":"10.1074\/jbc.M806919200","article-title":"The Carboxyl-terminal Domain of RNA Polymerase II Is Not Sufficient to Enhance the Efficiency of Pre-mRNA Capping or Splicing in the Context of a Different Polymerase.","volume":"284","author":"BJ Natalizio","year":"2009","journal-title":"The Journal of biological chemistry"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"e1000300","DOI":"10.1371\/journal.pcbi.1000300","article-title":"Alu exonization events reveal features required for precise recognition of exons by the splicing machinery.","volume":"5","author":"S Schwartz","year":"2009","journal-title":"PLoS Comput Biol"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"e7853","DOI":"10.1371\/journal.pone.0007853","article-title":"The peculiarities of large intron splicing in animals.","volume":"4","author":"S Shepard","year":"2009","journal-title":"PLoS One"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"802","DOI":"10.1261\/rna.876308","article-title":"Splicing regulation: from a parts list of regulatory elements to an integrated splicing code.","volume":"14","author":"Z Wang","year":"2008","journal-title":"RNA"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"5491","DOI":"10.1182\/blood-2006-09-046573","article-title":"A complex splicing defect associated with homozygous ankyrin-deficient hereditary spherocytosis.","volume":"109","author":"EJ Edelman","year":"2007","journal-title":"Blood"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"1261","DOI":"10.1006\/jmbi.2001.4561","article-title":"A novel mutation in the neurofibromatosis type 1 (NF1) gene promotes skipping of two exons by preventing exon definition.","volume":"307","author":"LJ Fang","year":"2001","journal-title":"Journal of molecular biology"},{"key":"ref20","first-page":"798","article-title":"Unusual patterns of exon skipping in Bruton tyrosine kinase are associated with mutations involving the intron 17 3\u2032 splice site.","volume":"60","author":"RN Haire","year":"1997","journal-title":"American journal of human genetics"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"1753","DOI":"10.3324\/haematol.2009.010124","article-title":"Beta-spectrinBari: a truncated beta-chain responsible for dominant hereditary spherocytosis.","volume":"94","author":"S Perrotta","year":"2009","journal-title":"Haematologica"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"917","DOI":"10.1086\/420794","article-title":"Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.","volume":"74","author":"U Schwarze","year":"2004","journal-title":"American journal of human genetics"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"4825","DOI":"10.1128\/MCB.15.9.4825","article-title":"Exon and intron sequences, respectively, repress and activate splicing of a fibroblast growth factor receptor 2 alternative exon.","volume":"15","author":"F Del Gatto","year":"1995","journal-title":"Molecular and cellular biology"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"38249","DOI":"10.1074\/jbc.M405377200","article-title":"hnRNP A1 and the SR proteins ASF\/SF2 and SC35 have antagonistic functions in splicing of beta-tropomyosin exon 6B.","volume":"279","author":"A Expert-Bezancon","year":"2004","journal-title":"The Journal of biological chemistry"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"32700","DOI":"10.1074\/jbc.M505940200","article-title":"Alternative splicing of type II procollagen exon 2 is regulated by the combination of a weak 5\u2032 splice site and an adjacent intronic stem-loop cis element.","volume":"280","author":"A McAlinden","year":"2005","journal-title":"The Journal of biological chemistry"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"1463","DOI":"10.1261\/rna.1069408","article-title":"Conserved RNA secondary structures promote alternative splicing.","volume":"14","author":"PJ Shepard","year":"2008","journal-title":"RNA"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1016\/j.ymgme.2005.04.014","article-title":"Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA).","volume":"86","author":"C Giunta","year":"2005","journal-title":"Molecular genetics and metabolism"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1089\/cmb.1997.4.311","article-title":"Improved splice site detection in Genie.","volume":"4","author":"MG Reese","year":"1997","journal-title":"J Comput Biol"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"e67","DOI":"10.1093\/nar\/gkp215","article-title":"Human Splicing Finder: an online bioinformatics tool to predict splicing signals.","volume":"37","author":"FO Desmet","year":"2009","journal-title":"Nucleic acids research"},{"key":"ref30","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":"Z Wang","year":"2004","journal-title":"Cell"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"3406","DOI":"10.1093\/nar\/gkg595","article-title":"Mfold web server for nucleic acid folding and hybridization prediction.","volume":"31","author":"M Zuker","year":"2003","journal-title":"Nucleic acids research"}],"container-title":["PLoS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0020121","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,10,23]],"date-time":"2018-10-23T18:51:34Z","timestamp":1540320694000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0020121"}},"subtitle":[],"editor":[{"given":"Francesc","family":"Palau","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2011,5,17]]},"references-count":31,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2011,5,17]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0020121","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.12271958.13447058","asserted-by":"object"}]},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,5,17]]}}}