{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T20:02:49Z","timestamp":1792612969999,"version":"4.5.0"},"reference-count":49,"publisher":"Oxford University Press (OUP)","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015,3,1]]},"DOI":"10.1093\/hmg\/ddu534","type":"journal-article","created":{"date-parts":[[2014,10,25]],"date-time":"2014-10-25T02:01:55Z","timestamp":1414202515000},"page":"1234-1242","source":"Crossref","is-referenced-by-count":41,"title":["Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects"],"prefix":"10.1093","volume":"24","author":[{"given":"Aideen M.","family":"McInerney-Leo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Duncan B.","family":"Sparrow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica E.","family":"Harris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brooke B.","family":"Gardiner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mhairi S.","family":"Marshall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria C.","family":"O'Reilly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongjun","family":"Shi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew A.","family":"Brown","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul J.","family":"Leo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Zankl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sally L.","family":"Dunwoodie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma L.","family":"Duncan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2014,10,24]]},"reference":[{"key":"key\n\t\t\t\t20170503080341_DDU534C1","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1002\/bdrc.20179","article-title":"Role of environmental factors in axial skeletal dysmorphogenesis","volume":"90","year":"2010","journal-title":"Birth Defects Res. C. Embryo Today"},{"key":"key\n\t\t\t\t20170503080341_DDU534C2","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1016\/j.cell.2011.05.011","article-title":"Vertebrate segmentation: from cyclic gene networks to scoliosis","volume":"145","year":"2011","journal-title":"Cell"},{"key":"key\n\t\t\t\t20170503080341_DDU534C3","doi-asserted-by":"crossref","first-page":"1357","DOI":"10.1002\/ajmg.a.33361","article-title":"Pilot assessment of a radiologic classification system for segmentation defects of the vertebrae","volume":"152A","author":"Icvas","year":"2010","journal-title":"Am. J. Med. Genet. A."},{"key":"key\n\t\t\t\t20170503080341_DDU534C4","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1038\/74307","article-title":"Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis","volume":"24","year":"2000","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170503080341_DDU534C5","doi-asserted-by":"crossref","first-page":"1456","DOI":"10.1002\/dvdy.21182","article-title":"Abnormal vertebral segmentation and the notch signaling pathway in man","volume":"236","year":"2007","journal-title":"Dev. Dyn."},{"key":"key\n\t\t\t\t20170503080341_DDU534C6","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1086\/498879","article-title":"Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype","volume":"78","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170503080341_DDU534C7","doi-asserted-by":"crossref","first-page":"1249","DOI":"10.1086\/421053","article-title":"Mutated MESP2 causes spondylocostal dysostosis in humans","volume":"74","year":"2004","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170503080341_DDU534C8","doi-asserted-by":"crossref","first-page":"3761","DOI":"10.1093\/hmg\/ddn272","article-title":"Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis","volume":"17","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170503080341_DDU534C9","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1002\/gene.20124","article-title":"Regulation of Tbx6 expression by Notch signaling","volume":"42","year":"2005","journal-title":"Genesis"},{"key":"key\n\t\t\t\t20170503080341_DDU534C10","doi-asserted-by":"crossref","first-page":"1625","DOI":"10.1093\/hmg\/ddt012","article-title":"Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6","volume":"22","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170503080341_DDU534C11","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/j.ajhg.2012.11.016","article-title":"Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel\u2013Feil anomaly","volume":"92","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170503080341_DDU534C12","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1186\/1471-2156-14-95","article-title":"Mutation in MEOX1 gene causes a recessive Klippel\u2013Feil syndrome subtype","volume":"14","year":"2013","journal-title":"BMC Genet."},{"key":"key\n\t\t\t\t20170503080341_DDU534C13","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1093\/hmg\/ddp496","article-title":"Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies","volume":"19","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170503080341_DDU534C14","doi-asserted-by":"crossref","first-page":"1017","DOI":"10.1002\/humu.20741","article-title":"Mutations in GDF6 are associated with vertebral segmentation defects in Klippel\u2013Feil syndrome","volume":"29","year":"2008","journal-title":"Hum. Mutat."},{"key":"key\n\t\t\t\t20170503080341_DDU534C15","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1016\/j.cell.2012.02.054","article-title":"A mechanism for gene\u2013environment interaction in the etiology of congenital scoliosis","volume":"149","year":"2012","journal-title":"Cell"},{"key":"key\n\t\t\t\t20170503080341_DDU534C16","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1038\/nature09534","article-title":"A map of human genome variation from population-scale sequencing","volume":"467","author":"Genomes Project, C.","year":"2010","journal-title":"Nature"},{"key":"key\n\t\t\t\t20170503080341_DDU534C17","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1101\/gr.112326.110","article-title":"Dindel: accurate indel calls from short-read data","volume":"21","year":"2011","journal-title":"Genome Res."},{"key":"key\n\t\t\t\t20170503080341_DDU534C18","doi-asserted-by":"crossref","first-page":"901","DOI":"10.1101\/gr.3577405","article-title":"Distribution and intensity of constraint in mammalian genomic sequence","volume":"15","year":"2005","journal-title":"Genome Res."},{"key":"key\n\t\t\t\t20170503080341_DDU534C19","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1038\/nmeth0810-575","article-title":"MutationTaster evaluates disease-causing potential of sequence alterations","volume":"7","year":"2010","journal-title":"Nat. Methods"},{"key":"key\n\t\t\t\t20170503080341_DDU534C20","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/nprot.2009.86","article-title":"Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm","volume":"4","year":"2009","journal-title":"Nat. Protoc."},{"key":"key\n\t\t\t\t20170503080341_DDU534C21","doi-asserted-by":"crossref","first-page":"3236","DOI":"10.1128\/MCB.01754-07","article-title":"Activator-to-repressor conversion of T-box transcription factors by the Ripply family of Groucho\/TLE-associated mediators","volume":"28","year":"2008","journal-title":"Mol. Cell. Biol."},{"key":"key\n\t\t\t\t20170503080341_DDU534C22","doi-asserted-by":"crossref","first-page":"708","DOI":"10.1101\/gr.1933104","article-title":"Aligning multiple genomic sequences with the threaded blockset aligner","volume":"14","year":"2004","journal-title":"Genome Res."},{"key":"key\n\t\t\t\t20170503080341_DDU534C23","doi-asserted-by":"crossref","first-page":"2069","DOI":"10.1093\/bioinformatics\/btq330","article-title":"Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor","volume":"26","year":"2010","journal-title":"Bioinformatics"},{"key":"key\n\t\t\t\t20170503080341_DDU534C24","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","year":"2009","journal-title":"Nucleic Acids Res."},{"key":"key\n\t\t\t\t20170503080341_DDU534C25","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1038\/nmeth.1628","article-title":"CREST maps somatic structural variation in cancer genomes with base-pair resolution","volume":"8","year":"2011","journal-title":"Nat. Methods"},{"key":"key\n\t\t\t\t20170503080341_DDU534C26","doi-asserted-by":"crossref","first-page":"2747","DOI":"10.1093\/bioinformatics\/bts526","article-title":"A robust model for read count data in exome sequencing experiments and implications for copy number variant calling","volume":"28","year":"2012","journal-title":"Bioinformatics"},{"key":"key\n\t\t\t\t20170503080341_DDU534C27","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1038\/nrm1310","article-title":"Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics","volume":"5","year":"2004","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"key\n\t\t\t\t20170503080341_DDU534C28","doi-asserted-by":"crossref","first-page":"3651","DOI":"10.1073\/pnas.0508238103","article-title":"Tbx6-mediated Notch signaling controls somite-specific Mesp2 expression","volume":"103","year":"2006","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170503080341_DDU534C29","doi-asserted-by":"crossref","first-page":"2691","DOI":"10.1016\/j.febslet.2007.05.017","article-title":"Ripply2 is essential for precise somite formation during mouse early development","volume":"581","year":"2007","journal-title":"FEBS Lett."},{"key":"key\n\t\t\t\t20170503080341_DDU534C30","doi-asserted-by":"crossref","first-page":"1561","DOI":"10.1242\/dev.000836","article-title":"The negative regulation of Mesp2 by mouse Ripply2 is required to establish the rostro-caudal patterning within a somite","volume":"134","year":"2007","journal-title":"Development"},{"key":"key\n\t\t\t\t20170503080341_DDU534C31","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1007\/s00335-011-9335-5","article-title":"The mouse notches up another success: understanding the causes of human vertebral malformation","volume":"22","year":"2011","journal-title":"Mamm. Genome"},{"key":"key\n\t\t\t\t20170503080341_DDU534C32","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1093\/hmg\/ddq529","article-title":"Notch inhibition by the ligand DELTA-LIKE 3 defines the mechanism of abnormal vertebral segmentation in spondylocostal dysostosis","volume":"20","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170503080341_DDU534C33","doi-asserted-by":"crossref","first-page":"9604","DOI":"10.1074\/jbc.275.13.9604","article-title":"Mammalian Notch1 is modified with two unusual forms of O-linked glycosylation found on epidermal growth factor-like modules","volume":"275","year":"2000","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170503080341_DDU534C34","doi-asserted-by":"crossref","first-page":"1403","DOI":"10.1002\/dvdy.21114","article-title":"Oscillator mechanism of Notch pathway in the segmentation clock","volume":"236","year":"2007","journal-title":"Dev. Dyn."},{"key":"key\n\t\t\t\t20170503080341_DDU534C35","doi-asserted-by":"crossref","first-page":"e53323","DOI":"10.1371\/journal.pone.0053323","article-title":"Control of Hes7 expression by Tbx6, the Wnt pathway and the chemical Gsk3 inhibitor LiCl in the mouse segmentation clock","volume":"8","year":"2013","journal-title":"PLoS ONE"},{"key":"key\n\t\t\t\t20170503080341_DDU534C36","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1016\/j.devcel.2005.09.021","article-title":"Groucho-associated transcriptional repressor ripply1 is required for proper transition from the presomitic mesoderm to somites","volume":"9","year":"2005","journal-title":"Dev. Cell"},{"key":"key\n\t\t\t\t20170503080341_DDU534C37","doi-asserted-by":"crossref","first-page":"3167","DOI":"10.1002\/dvdy.21342","article-title":"Mouse Ripply2 is downstream of Wnt3a and is dynamically expressed during somitogenesis","volume":"236","year":"2007","journal-title":"Dev. Dyn."},{"key":"key\n\t\t\t\t20170503080341_DDU534C38","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1387\/ijdb.082823kh","article-title":"The Xenopus Bowline\/Ripply family proteins negatively regulate the transcriptional activity of T-box transcription factors","volume":"53","year":"2009","journal-title":"Int. J. Dev. Biol."},{"key":"key\n\t\t\t\t20170503080341_DDU534C39","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1016\/j.bbrc.2008.05.083","article-title":"Physical interaction between Tbx6 and mespb is indispensable for the activation of bowline expression during Xenopus somitogenesis","volume":"372","year":"2008","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"key\n\t\t\t\t20170503080341_DDU534C40","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1016\/j.bbrc.2007.05.211","article-title":"Bowline mediates association of the transcriptional corepressor XGrg-4 with Tbx6 during somitogenesis in Xenopus","volume":"359","year":"2007","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"key\n\t\t\t\t20170503080341_DDU534C41","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1242\/dev.054056","article-title":"Ripply3, a Tbx1 repressor, is required for development of the pharyngeal apparatus and its derivatives in mice","volume":"138","year":"2011","journal-title":"Development"},{"key":"key\n\t\t\t\t20170503080341_DDU534C42","doi-asserted-by":"crossref","first-page":"1213","DOI":"10.1242\/dev.071456","article-title":"RIPPLY3 is a retinoic acid-inducible repressor required for setting the borders of the pre-placodal ectoderm","volume":"139","year":"2012","journal-title":"Development"},{"key":"key\n\t\t\t\t20170503080341_DDU534C43","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1016\/j.gde.2011.04.001","article-title":"RNA structure and the mechanisms of alternative splicing","volume":"21","year":"2011","journal-title":"Curr. Opin. Genet. Dev."},{"key":"key\n\t\t\t\t20170503080341_DDU534C44","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1261\/rna.7221605","article-title":"U2AF binding selects for the high conservation of the C. elegans 3\u2032 splice site","volume":"11","year":"2005","journal-title":"RNA"},{"key":"key\n\t\t\t\t20170503080341_DDU534C45","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1186\/1471-2474-15-107","article-title":"The IFITM5 mutation c.-14C>T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V","volume":"15","year":"2014","journal-title":"BMC Musculoskelet. Disord."},{"key":"key\n\t\t\t\t20170503080341_DDU534C46","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1016\/j.ajhg.2013.06.022","article-title":"Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60","volume":"93","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170503080341_DDU534C47","doi-asserted-by":"crossref","first-page":"1255","DOI":"10.1016\/0092-8674(91)90020-Y","article-title":"Direct repeats as selective response elements for the thyroid hormone, retinoic acid, and vitamin D3 receptors","volume":"65","year":"1991","journal-title":"Cell"},{"key":"key\n\t\t\t\t20170503080341_DDU534C48","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1126\/science.2414846","article-title":"Plasticity of the differentiated state","volume":"230","year":"1985","journal-title":"Science"},{"key":"key\n\t\t\t\t20170503080341_DDU534C49","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1038\/270725a0","article-title":"Serial passaging and differentiation of myogenic cells isolated from dystrophic mouse muscle","volume":"270","year":"1977","journal-title":"Nature"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","deposited":{"date-parts":[[2024,6,4]],"date-time":"2024-06-04T10:25:03Z","timestamp":1717496703000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article-lookup\/doi\/10.1093\/hmg\/ddu534"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,10,24]]},"references-count":49,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2014,10,24]]},"published-print":{"date-parts":[[2015,3,1]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddu534","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,10,24]]}}}