{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T23:35:39Z","timestamp":1771544139946,"version":"3.50.1"},"reference-count":34,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2016,10,4]],"date-time":"2016-10-04T00:00:00Z","timestamp":1475539200000},"content-version":"vor","delay-in-days":705,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015,3,1]]},"DOI":"10.1093\/hmg\/ddu555","type":"journal-article","created":{"date-parts":[[2014,11,1]],"date-time":"2014-11-01T02:44:25Z","timestamp":1414809865000},"page":"1410-1419","source":"Crossref","is-referenced-by-count":70,"title":["A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies"],"prefix":"10.1093","volume":"24","author":[{"given":"Ranad","family":"Shaheen","sequence":"first","affiliation":[{"name":"Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miriam","family":"Schmidts","sequence":"additional","affiliation":[{"name":"Genetics and Genomic Medicine, UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK,"},{"name":"Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, 6500 HB Nijmegen, the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eissa","family":"Faqeih","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, King Fahad Medical City, Riyadh 59046, Saudi Arabia,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amal","family":"Hashem","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Prince Sultan Military Medical City, Riyadh 11159, Saudi Arabia,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ekkehart","family":"Lausch","sequence":"additional","affiliation":[{"name":"Pediatric Genetics Division, Center for Adolescent and Pediatric Medicine, University Hospital Freiburg, Freiburg 79108, Germany,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabel","family":"Holder","sequence":"additional","affiliation":[{"name":"Genetics and Genomic Medicine, UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Superti-Furga","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Lausanne University Hospital, University of Lausanne, Lausanne 1011, Switzerland,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"UK10K Consortium","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hannah M.","family":"Mitchison","sequence":"additional","affiliation":[{"name":"Genetics and Genomic Medicine, UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agaadir","family":"Almoisheer","sequence":"additional","affiliation":[{"name":"Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rana","family":"Alamro","sequence":"additional","affiliation":[{"name":"Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tarfa","family":"Alshiddi","sequence":"additional","affiliation":[{"name":"Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatma","family":"Alzahrani","sequence":"additional","affiliation":[{"name":"Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philip L.","family":"Beales","sequence":"additional","affiliation":[{"name":"Genetics and Genomic Medicine, UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fowzan S.","family":"Alkuraya","sequence":"additional","affiliation":[{"name":"Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia,"},{"name":"Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2014,10,30]]},"reference":[{"key":"key\n\t\t\t\t20180328144512_DDU555C1","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1136\/adc.52.10.758","article-title":"Asphyxiating thoracic dysplasia. Clinical, radiological, and pathological information on 10 patients","volume":"52","author":"Oberklaid","year":"1977","journal-title":"Arch. Dis. Child."},{"key":"key\n\t\t\t\t20180328144512_DDU555C2","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1002\/ajmg.c.31336","article-title":"Ciliary disorder of the skeleton","volume":"160","author":"Huber","year":"2012","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"key\n\t\t\t\t20180328144512_DDU555C3","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1136\/jmedgenet-2012-101282","article-title":"Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families","volume":"50","author":"Baujat","year":"2013","journal-title":"J. Med. Gen."},{"key":"key\n\t\t\t\t20180328144512_DDU555C4","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1097\/GIM.0b013e3181a02882","article-title":"The nonmotile ciliopathies","volume":"11","author":"Tobin","year":"2009","journal-title":"Genet. Med."},{"key":"key\n\t\t\t\t20180328144512_DDU555C5","doi-asserted-by":"crossref","first-page":"1411","DOI":"10.1002\/ajmg.a.33416","article-title":"Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy","volume":"152","author":"Lehman","year":"2010","journal-title":"Am. J. Med. Genet. A"},{"key":"key\n\t\t\t\t20180328144512_DDU555C6","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1001\/archopht.1987.01060050069040","article-title":"Retinal dystrophy in Jeune's syndrome","volume":"105","author":"Wilson","year":"1987","journal-title":"Arch. Ophthalmol."},{"key":"key\n\t\t\t\t20180328144512_DDU555C7","first-page":"192","article-title":"The thoracic asphyxiant dystrophy and renal disease","volume":"116","author":"Herdman","year":"1968","journal-title":"Am. J. Dis. Child."},{"key":"key\n\t\t\t\t20180328144512_DDU555C8","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1016\/j.ajhg.2013.09.012","article-title":"Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino Syndromes in humans","volume":"93","author":"Halbritter","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20180328144512_DDU555C9","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1136\/jmedgenet-2012-101284","article-title":"Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement","volume":"50","author":"Schmidts","year":"2013","journal-title":"J. Med. Gen."},{"key":"key\n\t\t\t\t20180328144512_DDU555C10","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1038\/ng2038","article-title":"IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy","volume":"39","author":"Beales","year":"2007","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20180328144512_DDU555C11","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1038\/ng.756","article-title":"TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum","volume":"43","author":"Davis","year":"2011","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20180328144512_DDU555C12","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1002\/humu.22294","article-title":"Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney disease","volume":"34","author":"Schmidts","year":"2013","journal-title":"Hum. Mutat."},{"key":"key\n\t\t\t\t20180328144512_DDU555C13","doi-asserted-by":"crossref","first-page":"634","DOI":"10.1016\/j.ajhg.2011.10.001","article-title":"Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19","volume":"89","author":"Bredrup","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20180328144512_DDU555C14","doi-asserted-by":"crossref","first-page":"932","DOI":"10.1016\/j.ajhg.2013.10.003","article-title":"Mutations in the gene encoding IFT Dynein Complex Component WDR34 cause Jeune asphyxiating thoracic dystrophy","volume":"93","author":"Schmidts","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20180328144512_DDU555C15","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","author":"McInerney-Leo","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20180328144512_DDU555C16","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/j.ajhg.2013.11.010","article-title":"Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans","volume":"94","author":"Shaheen","year":"2014","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20180328144512_DDU555C17","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/j.ajhg.2013.11.019","article-title":"Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy","volume":"94","author":"Tuz","year":"2014","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20180328144512_DDU555C18","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1136\/jmg.2009.069468","article-title":"Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum","volume":"48","author":"Cavalcanti","year":"2011","journal-title":"J. Med. Gen."},{"key":"key\n\t\t\t\t20180328144512_DDU555C19","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1016\/j.ajhg.2009.04.016","article-title":"DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III","volume":"84","author":"Dagoneau","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20180328144512_DDU555C20","doi-asserted-by":"crossref","DOI":"10.1002\/0471142905.hg0612s75","article-title":"Discovery of rare homozygous mutations from studies of consanguineous pedigrees","author":"Alkuraya","year":"2012","journal-title":"Curr. Protoc. Hum. Genet."},{"key":"key\n\t\t\t\t20180328144512_DDU555C21","doi-asserted-by":"crossref","first-page":"1197","DOI":"10.1007\/s00439-013-1344-x","article-title":"The application of next-generation sequencing in the autozygosity mapping of human recessive diseases","volume":"132","author":"Alkuraya","year":"2013","journal-title":"Hum. Genet."},{"key":"key\n\t\t\t\t20180328144512_DDU555C22","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1038\/nature02166","article-title":"Proteomic characterization of the human centrosome by protein correlation profiling","volume":"426","author":"Andersen","year":"2003","journal-title":"Nature"},{"key":"key\n\t\t\t\t20180328144512_DDU555C23","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/j.neuron.2007.08.026","article-title":"Cep120 and TACCs control interkinetic nuclear migration and the neural progenitor pool","volume":"56","author":"Xie","year":"2007","journal-title":"Neuron"},{"key":"key\n\t\t\t\t20180328144512_DDU555C24","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1083\/jcb.201003009","article-title":"Cep120 is asymmetrically localized to the daughter centriole and is essential for centriole assembly","volume":"191","author":"Mahjoub","year":"2010","journal-title":"J. Cell. Biol."},{"key":"key\n\t\t\t\t20180328144512_DDU555C25","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1038\/nrm2180","article-title":"Centrosome biogenesis and function: centrosomics brings new understanding","volume":"8","author":"Bettencourt-Dias","year":"2007","journal-title":"Nat. Rev. Mol. Biol."},{"key":"key\n\t\t\t\t20180328144512_DDU555C26","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1083\/jcb.201212060","article-title":"CEP120 interacts with CPAP and positively regulates centriole elongation","volume":"202","author":"Lin","year":"2013","journal-title":"J. Cell. Biol."},{"key":"key\n\t\t\t\t20180328144512_DDU555C27","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1016\/j.ajhg.2012.05.025","article-title":"POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism","volume":"91","author":"Shaheen","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20180328144512_DDU555C28","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1016\/j.ydbio.2010.06.004","article-title":"Inhibition of Plk1 induces mitotic infidelity and embryonic growth defects in developing zebrafish embryos","volume":"345","author":"Jeong","year":"2010","journal-title":"Dev. Biol."},{"key":"key\n\t\t\t\t20180328144512_DDU555C29","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1091\/mbc.E07-08-0798","article-title":"The Uni2 phosphoprotein is a cell cycle-regulated component of the basal body maturation pathway in Chlamydomonas reinhardtii","volume":"19","author":"Piasecki","year":"2008","journal-title":"Mol. Biol. Cell."},{"key":"key\n\t\t\t\t20180328144512_DDU555C30","doi-asserted-by":"crossref","first-page":"2072","DOI":"10.1101\/gad.13.16.2072","article-title":"Indian hedgehog signaling regulates proliferation and differentiation of chondrocytes and is essential for bone formation","volume":"13","author":"St-Jacques","year":"1999","journal-title":"Genes Dev."},{"key":"key\n\t\t\t\t20180328144512_DDU555C31","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1016\/j.tig.2012.03.012","article-title":"Human limb abnormalities caused by disruption of hedgehog signaling","volume":"28","author":"Anderson","year":"2012","journal-title":"Trends Genet."},{"key":"key\n\t\t\t\t20180328144512_DDU555C32","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1038\/ng.1106","article-title":"Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia","volume":"44","author":"Mitchison","year":"2012","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20180328144512_DDU555C33","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1038\/ng.757","article-title":"Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome","volume":"43","author":"Rooryck","year":"2011","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20180328144512_DDU555C34","doi-asserted-by":"crossref","first-page":"5463","DOI":"10.1167\/iovs.09-3828","article-title":"Retrograde intraflagellar transport by cytoplasmic dynein-2 is required for outer segment extension in vertebrate photoreceptors but not arrestin translocation","volume":"50","author":"Krock","year":"2009","journal-title":"Invest. Ophthalmol. Vis. Sci."}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/24\/5\/1410\/14144519\/ddu555.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,4]],"date-time":"2024-06-04T16:05:17Z","timestamp":1717517117000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/24\/5\/1410\/795445"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,10,30]]},"references-count":34,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2014,10,30]]},"published-print":{"date-parts":[[2015,3,1]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddu555","relation":{},"ISSN":["1460-2083","0964-6906"],"issn-type":[{"value":"1460-2083","type":"electronic"},{"value":"0964-6906","type":"print"}],"subject":[],"published-other":{"date-parts":[[2015,3,1]]},"published":{"date-parts":[[2014,10,30]]}}}