IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy

2007 ◽  
Vol 39 (6) ◽  
pp. 727-729 ◽  
Author(s):  
Philip L Beales ◽  
Elizabeth Bland ◽  
Jonathan L Tobin ◽  
Chiara Bacchelli ◽  
Beyhan Tuysuz ◽  
...  
Keyword(s):  
Intraflagellar Transport ◽  
Transport Protein ◽  
Asphyxiating Thoracic Dystrophy ◽  
Thoracic Dystrophy

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

2015 ◽  
Vol 6 (1) ◽  
Author(s):  
Miriam Schmidts ◽  
◽  
Yuqing Hou ◽  
Claudio R. Cortés ◽  
Dorus A. Mans ◽  
...  
Keyword(s):  
Cell Signalling ◽  
Intraflagellar Transport ◽  
Light Chains ◽  
Asphyxiating Thoracic Dystrophy ◽  
Dynein Motor ◽  
Evolutionarily Conserved ◽  
Skeletal Formation ◽  
Dynein Light Chains ◽  
Shed Light ◽  
Thoracic Dystrophy

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.

Asphyxiating thoracic dystrophy: a report of 3 cases

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
Keyword(s):  
Asphyxiating Thoracic Dystrophy ◽  
Thoracic Dystrophy

scholarly journals A novel murine allele of Intraflagellar Transport Protein 172 causes a syndrome including VACTERL-like features with hydrocephalus

2011 ◽  
Vol 20 (19) ◽  
pp. 3725-3737 ◽  
Author(s):  
J. M. Friedland-Little ◽  
A. D. Hoffmann ◽  
P. J. R. Ocbina ◽  
M. A. Peterson ◽  
J. D. Bosman ◽  
...  
Keyword(s):  
Intraflagellar Transport ◽  
Transport Protein

scholarly journals DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III

2009 ◽  
Vol 84 (5) ◽  
pp. 706-711 ◽  
Author(s):  
Nathalie Dagoneau ◽  
Marie Goulet ◽  
David Geneviève ◽  
Yves Sznajer ◽  
Jelena Martinovic ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Type Iii ◽  
Asphyxiating Thoracic Dystrophy ◽  
Short Rib Polydactyly Syndrome ◽  
Thoracic Dystrophy
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