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

dc.contributor.authorKing, Stephen M.
dc.contributor.authorMans, Dorus A.
dc.contributor.authorUeffing, Marius
dc.contributor.authorKrakow, Deborah
dc.contributor.authorBeales, Philip L.
dc.contributor.authorAl-Gazali, Lihadh
dc.contributor.authorWicking, Carol
dc.contributor.authorCormier-Daire, Valerie
dc.contributor.authorRoepman, Ronald
dc.contributor.authorMitchison, Hannah M.
dc.contributor.authorWitman, George B.
dc.contributor.authorHuber, Celine
dc.contributor.authorBoldt, Karsten
dc.contributor.authorPatel, Mitali
dc.contributor.authorvan Reeuwijk, Jeroen
dc.contributor.authorPlaza, Jean-Marc
dc.contributor.authorvan Beersum, Sylvia E. C.
dc.contributor.authorYap, Zhi Min
dc.contributor.authorLetteboer, Stef J. F.
dc.contributor.authorTaylor, S. Paige
dc.contributor.authorHerridge, Warren
dc.contributor.authorJohnson, Colin A.
dc.contributor.authorScambler, Peter J.
dc.contributor.authorKayserili, Hulya
dc.contributor.authorSchmidts, Miriam
dc.contributor.authorHou, Yuqing
dc.contributor.authorCortes, Claudio R.
dc.date.accessioned2021-03-05T19:15:34Z
dc.date.available2021-03-05T19:15:34Z
dc.identifier.citationSchmidts M., Hou Y., Cortes C. R. , Mans D. A. , Huber C., Boldt K., Patel M., van Reeuwijk J., Plaza J., van Beersum S. E. C. , et al., "TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport", NATURE COMMUNICATIONS, cilt.6, 2015
dc.identifier.issn2041-1723
dc.identifier.othervv_1032021
dc.identifier.otherav_ce6be212-5f73-4584-a7c0-9ce1d7953e4c
dc.identifier.urihttp://hdl.handle.net/20.500.12627/136547
dc.identifier.urihttps://doi.org/10.1038/ncomms8074
dc.description.abstractThe analysis of individuals with ciliary chondrodysplasias can shed light on sensitive mechanisms controlling ciliogenesis and cell signalling that are essential to embryonic development and survival. Here we identify TCTEX1D2 mutations causing Jeune asphyxiating thoracic dystrophy with partially penetrant inheritance. Loss of TCTEX1D2 impairs retrograde intraflagellar transport (IFT) in humans and the protist Chlamydomonas, accompanied by destabilization of the retrograde IFT dynein motor. We thus define TCTEX1D2 as an integral component of the evolutionarily conserved retrograde IFT machinery. In complex with several IFT dynein light chains, it is required for correct vertebrate skeletal formation but may be functionally redundant under certain conditions.
dc.language.isoeng
dc.subjectTemel Bilimler (SCI)
dc.subjectTemel Bilimler
dc.subjectÇOK DİSİPLİNLİ BİLİMLER
dc.subjectDoğa Bilimleri Genel
dc.titleTCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
dc.typeMakale
dc.relation.journalNATURE COMMUNICATIONS
dc.contributor.departmentİstanbul Üniversitesi , ,
dc.identifier.volume6
dc.contributor.firstauthorID222856


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