TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes

TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes

Summary: The Joubert-Meckel syndrome spectrum is a continuum of recessive ciliopathy conditions caused by primary cilium dysfunction. The primary cilium is a microtubule-based, antenna-like organelle that projects from the surface of most human cell types, allowing them to respond to extracellular s...

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Bibliographic Details
Main Authors: Julie C. Van De Weghe, Jessica L. Giordano, Inge B. Mathijssen, Majid Mojarrad, Dorien Lugtenberg, Caitlin V. Miller, Jennifer C. Dempsey, Mahsa Sadat Asl Mohajeri, Elizabeth van Leeuwen, Eva Pajkrt, Caroline C.W. Klaver, Henry Houlden, Atieh Eslahi, Aoife M. Waters, Michael J. Bamshad, Deborah A. Nickerson, Vimla S. Aggarwal, Bert B.A. de Vries, Reza Maroofian, Dan Doherty
Format: Article
Language:English
Published: Elsevier 2021-01-01
Series:HGG Advances
Subjects:
TMEM218
Joubert syndrome
Meckel syndrome
ciliopathy
cilia
primary cilia
Online Access:http://www.sciencedirect.com/science/article/pii/S2666247720300166

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