Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

Halbritter, Jan; A. Bizet, Albane; Schmidts, Miriam; D. Porath, Jonathan; A. Braun, Daniela; Yung Gee, Heon; McInerney‐Leo, Aideen; Krug, Pauline; Filhol, Emilie; E. Davis, Erica; Airik, Rannar; G. Czarnecki, Peter; Lehman, Anna; Trnka, Peter; Nitschké, Patrick; Bôle‐Feysot, Christine; Schueler, Markus; Knebelmann, Bertrand; Burtey, Stéphane; J. Szabó, Attila; Tory, Kálmán; Leo, Paul; Gardiner, Brooke; A. McKenzie, Fiona; Zankl, Andreas; A. Brown, Matthew; Hartley, Jane; R. Maher, Eamonn; Li, Chunmei; R. Leroux, Michel; Scambler, Peter; H. Zhan, Shing; J.M. Jones, Steven; Kayserili, Hülya; Tüysüz, Beyhan; N Moorani, Khemchand; R. Constantinescu, Alexandru; D. Krantz, Ian; S. Kaplan, Bernard; V. Shah, Jagesh; W. Hurd, Toby; Doherty, Dan; Katsanis, Nicholas; L. Duncan, Emma; A. Otto, Edgar; L. Beales, Philip; M. Mitchison, Hannah; Saunier, Sophie; Hildebrandt, Friedhelm

doi:10.1016/j.ajhg.2013.09.012

Public

Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

Published in The American Journal of Human Genetics • Oct 17, 2013

Authors:

Jan Halbritter

Albane A. Bizet

Miriam Schmidts

Abstract

Intraflagellar transport (IFT) depends on two evolutionarily conserved modules, subcomplexes A (IFT-A) and B (IFT-B), to drive ciliary assembly and maintenance. All six IFT-A components and their motor protein, DYNC2H1, have been linked to human skeletal ciliopathies, including asphyxiating thoracic...

Subject

Component (thermodynamics)

Medicine

Physics

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