Article
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.
American journal of human genetics - 7 Nov 2013
Halbritter Jan, Bizet Albane A, Schmidts Miriam, Porath Jonathan D, Braun Daniela A, Gee Heon Yung, McInerney-Leo Aideen M, Krug Pauline, Filhol Emilie, Davis Erica E, Airik Rannar, Czarnecki Peter G, Lehman Anna M, Trnka Peter, Nitschké Patrick, Bole-Feysot Christine, Schueler Markus, Knebelmann Bertrand, Burtey Stéphane, Szabó Attila J, Tory Kálmán, Leo Paul J, Gardiner Brooke, McKenzie Fiona A, Zankl Andreas, Brown Matthew A, Hartley Jane L, Maher Eamonn R, Li Chunmei, Leroux Michel R, Scambler Peter J, Zhan Shing H, Jones Steven J, Kayserili Hülya, Tuysuz Beyhan, Moorani Khemchand N, Constantinescu Alexandru, Krantz Ian D, Kaplan Bernard S, Shah Jagesh V, Hurd Toby W, Doherty Dan, Katsanis Nicholas, Duncan Emma L, Otto Edgar A, Beales Philip L, Mitchison Hannah M, Saunier Sophie, Hildebrandt Friedhelm
Abstract excerpt
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 thora...
Topics
- Alleles
- Amino Acid Sequence
- Animals
- Asian People
- Bone and Bones
- Cerebellar Ataxia