scholarly journals Correction: Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

2016 ◽  
Vol 7 (1) ◽  
Author(s):  
Miriam Schmidts ◽  
◽  
Yuqing Hou ◽  
Claudio R. Cortés ◽  
Dorus A. Mans ◽  
...  
2007 ◽  
Vol 39 (6) ◽  
pp. 727-729 ◽  
Author(s):  
Philip L Beales ◽  
Elizabeth Bland ◽  
Jonathan L Tobin ◽  
Chiara Bacchelli ◽  
Beyhan Tuysuz ◽  
...  

2015 ◽  
Vol 6 (1) ◽  
Author(s):  
Miriam Schmidts ◽  
◽  
Yuqing Hou ◽  
Claudio R. Cortés ◽  
Dorus A. Mans ◽  
...  

Abstract The 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.


1998 ◽  
Vol 74 (4) ◽  
pp. 333-7 ◽  
Author(s):  
Cláudia S. Orfaliais ◽  
Maria de Fátima P. March ◽  
Sidnei Ferreira ◽  
Rosana Alves ◽  
Clemax C. Sant’Anna

2009 ◽  
Vol 84 (5) ◽  
pp. 706-711 ◽  
Author(s):  
Nathalie Dagoneau ◽  
Marie Goulet ◽  
David Geneviève ◽  
Yves Sznajer ◽  
Jelena Martinovic ◽  
...  

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