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TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

dc.contributor.authorSchmidts, Men_US
dc.contributor.authorHou, Yen_US
dc.contributor.authorCortes, CRen_US
dc.contributor.authorMans, DAen_US
dc.contributor.authorHuber, Cen_US
dc.contributor.authorBoldt, Ken_US
dc.contributor.authorPatel, Men_US
dc.contributor.authorvan Reeuwijk, Jen_US
dc.contributor.authorPlaza, J-Men_US
dc.contributor.authorvan Beersum, SECen_US
dc.contributor.authorYap, ZMen_US
dc.contributor.authorLetteboer, SJFen_US
dc.contributor.authorTaylor, SPen_US
dc.contributor.authorHerridge, Wen_US
dc.contributor.authorJohnson, CAen_US
dc.contributor.authorScambler, PJen_US
dc.contributor.authorUeffing, Men_US
dc.contributor.authorKayserili, Hen_US
dc.contributor.authorKrakow, Den_US
dc.contributor.authorKing, SMen_US
dc.contributor.authorBeales, PLen_US
dc.contributor.authorAl-Gazali, Len_US
dc.contributor.authorWicking, Cen_US
dc.contributor.authorCormier-Daire, Ven_US
dc.contributor.authorRoepman, Ren_US
dc.contributor.authorMitchison, HMen_US
dc.contributor.authorWitman, GBen_US
dc.date.accessioned2019-01-10T13:28:33Z
dc.date.available2015-03-31en_US
dc.date.issued2015-06en_US
dc.identifier.issn2041-1723en_US
dc.identifier.otherARTN 7074
dc.identifier.otherARTN 7074en_US
dc.identifier.urihttps://qmro.qmul.ac.uk/xmlui/handle/123456789/54494
dc.description.sponsorshipWellcome Trust under award WT091310en_US
dc.description.sponsorshipNational Institutes of Health (NIH) grants RO1 AR062651 and R01 AR066124 (to D.K.), R01 GM051293 (to S.M.K.) and R37 GM030626 (to G.B.W.), by the Robert W. Booth Endowment at UMMS (to G.B.W.) and by an NIH National Institute of General Medical Sciences Institutional Development Award (IDeA) P20 GM103449 (to the Vermont Genetics Network).en_US
dc.description.sponsorshipC.A.J. acknowledges funding from a Sir Jules Thorn Award for Biomedical Research (JTA/09).en_US
dc.description.sponsorshipW.H. was supported by a stipend from the Rosetree's Trust (grant A465).en_US
dc.description.sponsorshipP.J.S. is funded by the British Heart Foundation.en_US
dc.description.sponsorshipH.K. acknowledges funding from the Scientific and Technological Research Council of Turkey (TUBİTAK, grant number 112S398) supported by the overall consortium, CRANIRARE-2, the European Research Area Network (ERA-Net) for research programmes on rare diseases (2011-2015).en_US
dc.description.sponsorshipC.W. is supported by an Australian National Health and Medical Research Council grant (APP1045464) and a University of Queensland (UQ) Vice Chancellor’s Senior Research Fellowship, and C.R.C. by a UQ International PhD Scholarship.en_US
dc.description.sponsorshipM.U. and K.B. acknowledge funding from FP7 grant agreement no. 278568, PRIMES. R.R. is supported by the Netherlands Organization for Scientific Research (NWO Vici-865.12.005). M.U., P.L.B., R.R. and C.A.J. acknowledge funding from the European Community's Seventh Framework Programme FP7/2009 under grant agreement no: 241955, SYSCILIA. M.S., P.L.B. and R.R. acknowledge funding from the Dutch Kidney Foundation (CP11.18).en_US
dc.description.sponsorshipP.L.B. and H.M.M. are supported by the Great Ormond Street Hospital Children's Charity.en_US
dc.description.sponsorshipM.S. is supported by an Action Medical Research UK Clinical Training Fellowship (RTF-1411), a Radboud Excellence Initiative and Radboud Hypatia Fellowship, and acknowledges funding from the German Research Foundation (DFG; Collaborative Research Center 1140, KIDGEM).en_US
dc.language.isoenen_US
dc.relation.ispartofNATURE COMMUNICATIONSen_US
dc.rightsCreative Commons Attribution License
dc.rightsAttribution 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/us/*
dc.titleTCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transporten_US
dc.typeArticle
dc.rights.holder2015. The authors
dc.identifier.doi10.1038/ncomms8074en_US
pubs.author-urlhttp://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000357164100001&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=612ae0d773dcbdba3046f6df545e9f6aen_US
pubs.notesNot knownen_US
pubs.publication-statusPublisheden_US
pubs.volume6en_US
rioxxterms.funderDefault funderen_US
rioxxterms.identifier.projectDefault projecten_US


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