{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T21:01:55Z","timestamp":1761512515124},"reference-count":30,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2008,3,11]],"date-time":"2008-03-11T00:00:00Z","timestamp":1205193600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Hum Genet"],"published-print":{"date-parts":[[2008,6]]},"DOI":"10.1007\/s10038-008-0263-5","type":"journal-article","created":{"date-parts":[[2008,3,10]],"date-time":"2008-03-10T11:43:28Z","timestamp":1205149408000},"page":"565-572","source":"Crossref","is-referenced-by-count":18,"title":["Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy"],"prefix":"10.1038","volume":"53","author":[{"given":"Jorge","family":"Oliveira","sequence":"first","affiliation":[]},{"given":"Isabel","family":"Soares-Silva","sequence":"additional","affiliation":[]},{"given":"Ivo","family":"Fokkema","sequence":"additional","affiliation":[]},{"given":"Ana","family":"Gon\u00e7alves","sequence":"additional","affiliation":[]},{"given":"Alexandra","family":"Cabral","sequence":"additional","affiliation":[]},{"given":"Lu\u00edsa","family":"Diogo","sequence":"additional","affiliation":[]},{"given":"Luc\u00eda","family":"Gal\u00e1n","sequence":"additional","affiliation":[]},{"given":"Ant\u00f3nio","family":"Guimar\u00e3es","sequence":"additional","affiliation":[]},{"given":"Isabel","family":"Fineza","sequence":"additional","affiliation":[]},{"given":"Johan T.","family":"den Dunnen","sequence":"additional","affiliation":[]},{"given":"Ros\u00e1rio","family":"Santos","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2008,3,11]]},"reference":[{"key":"263_CR1","doi-asserted-by":"publisher","first-page":"737","DOI":"10.1136\/jmg.2004.029538","volume":"42","author":"D Baralle","year":"2005","unstructured":"Baralle D, Baralle M (2005) Splicing in action: assessing disease causing sequence changes. J Med Genet 42:737\u2013748","journal-title":"J Med Genet"},{"key":"263_CR2","doi-asserted-by":"publisher","first-page":"199","DOI":"10.1242\/jcs.02814","volume":"119","author":"R Barresi","year":"2006","unstructured":"Barresi R, Campbell KP (2006) Dystroglycan: from biosynthesis to pathogenesis of human disease. J Cell Sci 119:199\u2013207","journal-title":"J Cell Sci"},{"key":"263_CR3","doi-asserted-by":"publisher","first-page":"1033","DOI":"10.1086\/342975","volume":"71","author":"D Beltran-Valero Bernabe de","year":"2002","unstructured":"Beltran-Valero de Bernabe D, Currier S, Steinbrecher A, Celli J, van Beusekom E, van der Zwaag B, Kayserili H, Merlini L, Chitayat D, Dobyns WB, Cormand B, Lehesjoki AE, Cruces J, Voit T, Walsh CA, van Bokhoven H, Brunner HG (2002) Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet 71:1033\u20131043","journal-title":"Am J Hum Genet"},{"key":"263_CR4","doi-asserted-by":"publisher","first-page":"1198","DOI":"10.1086\/324412","volume":"69","author":"M Brockington","year":"2001","unstructured":"Brockington M, Blake DJ, Prandini P, Brown SC, Torelli S, Benson MA, Ponting CP, Estournet B, Romero NB, Mercuri E, Voit T, Sewry CA, Guicheney P, Muntoni F (2001) Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am J Hum Genet 69:1198\u20131209","journal-title":"Am J Hum Genet"},{"key":"263_CR5","doi-asserted-by":"publisher","first-page":"1387","DOI":"10.1128\/MCB.24.3.1387-1400.2004","volume":"24","author":"E Buratti","year":"2004","unstructured":"Buratti E, Muro AF, Giombi M, Gherbassi D, Iaconcig A, Baralle FE (2004) RNA folding affects the recruitment of SR proteins by mouse and human polymorphic enhancer elements in the fibronectin EDA exon. Mol Cell Biol 24:1387\u20131400","journal-title":"Mol Cell Biol"},{"key":"263_CR6","doi-asserted-by":"publisher","first-page":"78","DOI":"10.1006\/jmbi.1997.0951","volume":"268","author":"C Burge","year":"1997","unstructured":"Burge C, Karlin S (1997) Prediction of complete gene structures in human genomic. DNA J Mol Biol 268:78\u201394","journal-title":"DNA J Mol Biol"},{"key":"263_CR29","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1038\/nrg775","volume":"23","author":"L Cartegni","year":"2002","unstructured":"Cartegni L, Chew SL, Krainer AR (2002) Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet 23:285\u2013298","journal-title":"Nat Rev Genet"},{"key":"263_CR7","doi-asserted-by":"publisher","first-page":"3568","DOI":"10.1093\/nar\/gkg616","volume":"31","author":"L Cartegni","year":"2003","unstructured":"Cartegni L, Wang J, Zhu Z, Zhang MQ, Krainer AR (2003) ESEfinder: A web resource to identify exonic splicing enhancers. Nucleic Acids Res 31:3568\u20133571","journal-title":"Nucleic Acids Res"},{"key":"263_CR8","doi-asserted-by":"publisher","first-page":"593","DOI":"10.1101\/gad.13.5.593","volume":"13","author":"CD Chen","year":"1999","unstructured":"Chen CD, Kobayashi R, Helfman DM (1999) Binding of hnRNP H to an exonic splicing silencer is involved in the regulation of alternative splicing of the rat beta-tropomyosin gene. Genes Dev 13:593\u2013606","journal-title":"Genes Dev"},{"key":"263_CR9","doi-asserted-by":"publisher","first-page":"433","DOI":"10.1038\/ng2024","volume":"39","author":"RG Cotton","year":"2007","unstructured":"Cotton RG, Auerbach AD, Brown AF, Carrera P, Christodoulou J, Claustres M, Compton J, Cox DW, De Baere E, den Dunnen JT, Greenblatt M, Fujiwara M, Hilbert P, Jani A, Lehvaslaiho H, Nebert DW, Verma I, Vihinen M (2007) Recommendations of the 2006 Human Variome Project meeting. Nat Genet 39:433\u2013436","journal-title":"Nat Genet"},{"key":"263_CR10","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1007\/s004390100505","volume":"109","author":"JT Dunnen den","year":"2001","unstructured":"den Dunnen JT, Antonarakis SE (2001) Nomenclature for the description of human sequence variations. Hum Genet 109:121\u2013124","journal-title":"Hum Genet"},{"key":"263_CR11","doi-asserted-by":"publisher","first-page":"e115","DOI":"10.1136\/jmg.2004.020701","volume":"41","author":"C Diesen","year":"2004","unstructured":"Diesen C, Saarinen A, Pihko H, Rosenlew C, Cormand B, Dobyns WB, Dieguez J, Valanne L, Joensuu T, Lehesjoki AE (2004) POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. J Med Genet 41:e115","journal-title":"J Med Genet"},{"key":"263_CR12","doi-asserted-by":"publisher","first-page":"419","DOI":"10.1101\/gad.1048803","volume":"17","author":"NA Faustino","year":"2003","unstructured":"Faustino NA, Cooper TA (2003) Pre-mRNA splicing and human disease. Genes Dev 17:419\u2013437","journal-title":"Genes Dev"},{"key":"263_CR13","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1002\/humu.20201","volume":"26","author":"IF Fokkema","year":"2005","unstructured":"Fokkema IF, den Dunnen JT, Taschner PE (2005) LOVD: easy creation of a locus-specific sequence variation database using an \u201cLSDB-in-a-box\u201d approach. Hum Mutat 26:63\u201368","journal-title":"Hum Mutat"},{"key":"263_CR14","doi-asserted-by":"publisher","first-page":"388","DOI":"10.1038\/28256","volume":"394","author":"K Kobayashi","year":"1998","unstructured":"Kobayashi K, Nakahori Y, Miyake M, Matsumura K, Kondo-Iida E, Nomura Y, Segawa M, Yoshioka M, Saito K, Osawa M, Hamano K, Sakakihara Y, Nonaka I, Nakagome Y, Kanazawa I, Nakamura Y, Tokunaga K, Toda T (1998a) An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature 394:388\u2013392","journal-title":"Nature"},{"key":"263_CR15","doi-asserted-by":"publisher","first-page":"228","DOI":"10.1016\/j.mod.2005.12.003","volume":"123","author":"J Liu","year":"2006","unstructured":"Liu J, Ball SL, Yang Y, Mei P, Zhang L, Shi H, Kaminski HJ, Lemmon VP, Hu H (2006) A genetic model for muscle-eye-brain disease in mice lacking protein O-mannose 1,2-N-acetylglucosaminyltransferase (POMGnT1). Mech Dev 123:228\u2013240","journal-title":"Mech Dev"},{"key":"263_CR16","doi-asserted-by":"publisher","first-page":"402","DOI":"10.1006\/meth.2001.1262","volume":"25","author":"KJ Livak","year":"2001","unstructured":"Livak KJ, Schmittgen TD (2001) Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)). Methods 25:402\u2013408","journal-title":"Methods"},{"issue":"21","key":"263_CR17","doi-asserted-by":"publisher","first-page":"2853","DOI":"10.1093\/hmg\/ddg307","volume":"2","author":"C Longman","year":"2003","unstructured":"Longman C, Brockington M, Torelli S, Jimenez-Mallebrera C, Kennedy C, Khalil N, Feng L, Saran RK, Voit T, Merlini L, Sewry CA, Brown SC, Muntoni F (2003) Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Hum Mol Genet 2(21):2853\u20132861","journal-title":"Hum Mol Genet"},{"key":"263_CR18","doi-asserted-by":"publisher","first-page":"222","DOI":"10.1038\/ncpneuro0155","volume":"2","author":"PT Martin","year":"2006","unstructured":"Martin PT (2006) Mechanisms of disease: congenital muscular dystrophies - glycosylation takes center stage. Nat Clin Pract Neurol 2:222\u2013230","journal-title":"Nat Clin Pract Neurol"},{"key":"263_CR19","doi-asserted-by":"publisher","first-page":"911","DOI":"10.1006\/jmbi.1999.2700","volume":"288","author":"D Mathews","year":"1999","unstructured":"Mathews D, Sabina J, Zuker M, Turner DH (1999) Expanded sequence dependence of thermodynamic parameters improves prediction of RNA secondary structure. J Mol Biol 288:911\u2013940","journal-title":"J Mol Biol"},{"key":"263_CR30","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1093\/nar\/16.3.1215","volume":"16","author":"SA Miller","year":"1988","unstructured":"Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215","journal-title":"Nucleic Acids Res"},{"key":"263_CR20","doi-asserted-by":"publisher","first-page":"1111","DOI":"10.1093\/hmg\/ddg131","volume":"12","author":"F Pagani","year":"2003","unstructured":"Pagani F, Stuani C, Tzetis M, Kanavakis E, Efthymiadou A, Doudounakis S, Casals T, Baralle FE (2003a) New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12. Hum Mol Genet 12:1111\u20131120","journal-title":"Hum Mol Genet"},{"key":"263_CR21","doi-asserted-by":"publisher","first-page":"26580","DOI":"10.1074\/jbc.M212813200","volume":"278","author":"F Pagani","year":"2003","unstructured":"Pagani F, Buratti E, Stuani C, Baralle FE (2003b) Missense, nonsense and neutral mutations define juxtaposed regulatory elements of splicing in CFTR exon 9. J Biol Chem 278:26580\u201326588","journal-title":"J Biol Chem"},{"key":"263_CR22","doi-asserted-by":"publisher","first-page":"1783","DOI":"10.1093\/nar\/gkh341","volume":"32","author":"M Sironi","year":"2004","unstructured":"Sironi M, Menozzi G, Riva L, Cagliani R, Comi GP, Bresolin N, Giorda R, Pozzoli U (2004) Silencer elements as possible inhibitors of pseudoexon splicing. Nucleic Acids Res 32:1783\u20131791","journal-title":"Nucleic Acids Res"},{"key":"263_CR23","doi-asserted-by":"publisher","first-page":"527","DOI":"10.1093\/hmg\/ddg043","volume":"12","author":"K Taniguchi","year":"2003","unstructured":"Taniguchi K, Kobayashi K, Saito K, Yamanouchi H, Ohnuma A, Hayashi YK, Manya H, Jin DK, Lee M, Parano E, Falsaperla R, Pavone P, Van Coster R, Talim B, Steinbrecher A, Straub V, Nishino I, Topaloglu H, Voit T, Endo T, Toda T (2003) Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. Hum Mol Genet 12:527\u2013534","journal-title":"Hum Mol Genet"},{"key":"263_CR24","doi-asserted-by":"publisher","first-page":"891","DOI":"10.1007\/s10038-007-0192-8","volume":"52","author":"H Uchikawa","year":"2007","unstructured":"Uchikawa H, Fujii K, Kohno Y, Katsumata N, Nagao K, Yamada M, Miyashita T (2007) U7 snRNA-mediated correction of aberrant splicing caused by activation of cryptic splice sites. J Hum Genet 52:891\u2013897","journal-title":"J Hum Genet"},{"key":"263_CR25","doi-asserted-by":"publisher","first-page":"907","DOI":"10.1136\/jmg.2005.031963","volume":"42","author":"J Reeuwijk van","year":"2005","unstructured":"van Reeuwijk J, Janssen M, van den Elzen C, Beltran-Valero de Bernabe D, Sabatelli P, Merlini L, Boon M, Scheffer H, Brockington M, Muntoni F, Huynen MA, Verrips A, Walsh CA, Barth PG, Brunner HG, van Bokhoven H (2005) POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. J Med Genet 42:907\u2013912","journal-title":"J Med Genet"},{"key":"263_CR26","doi-asserted-by":"publisher","first-page":"749","DOI":"10.1038\/nrg2164","volume":"8","author":"GS Wang","year":"2007","unstructured":"Wang GS, Cooper TA (2007) Splicing in disease: disruption of the splicing code and the decoding machinery. Nat Rev Genet 8:749\u2013761","journal-title":"Nat Rev Genet"},{"key":"263_CR27","doi-asserted-by":"publisher","first-page":"717","DOI":"10.1016\/S1534-5807(01)00070-3","volume":"1","author":"A Yoshida","year":"2001","unstructured":"Yoshida A, Kobayashi K, Manya H, Taniguchi K, Kano H, Mizuno M, Inazu T, Mitsuhashi H, Takahashi S, Takeuchi M, Herrmann R, Straub V, Talim B, Voit T, Topaloglu H, Toda T, Endo T (2001) Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Dev Cell 1:717\u2013724","journal-title":"Dev Cell"},{"key":"263_CR28","doi-asserted-by":"publisher","first-page":"26580","DOI":"10.1093\/nar\/gkg595","volume":"31","author":"M Zuker","year":"2003","unstructured":"Zuker M (2003) Mfold web server for nucleic acid folding and hybridization prediction. Nucleic Acids Res 31:26580\u201326588","journal-title":"Nucleic Acids Res"}],"container-title":["Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/jhg200873.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg200873","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg200873.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,1]],"date-time":"2021-12-01T19:37:00Z","timestamp":1638387420000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/jhg200873"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,3,11]]},"references-count":30,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2008,6]]}},"alternative-id":["263"],"URL":"https:\/\/doi.org\/10.1007\/s10038-008-0263-5","relation":{},"ISSN":["1434-5161","1435-232X"],"issn-type":[{"value":"1434-5161","type":"print"},{"value":"1435-232X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,3,11]]}}}