TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes

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 signals. T...

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Vydáno v:HGG Adv
Hlavní autoři: Van De Weghe, Julie C., Giordano, Jessica L., Mathijssen, Inge B., Mojarrad, Majid, Lugtenberg, Dorien, Miller, Caitlin V., Dempsey, Jennifer C., Mohajeri, Mahsa Sadat Asl, van Leeuwen, Elizabeth, Pajkrt, Eva, Klaver, Caroline C.W., Houlden, Henry, Eslahi, Atieh, Waters, Aoife M., Bamshad, Michael J., Nickerson, Deborah A., Aggarwal, Vimla S., de Vries, Bert B.A., Maroofian, Reza, Doherty, Dan
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2020
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8009330/
https://ncbi.nlm.nih.gov/pubmed/33791682
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.xhgg.2020.100016
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