PMC Links for GEO Profiles (Select 99536142) - PMC

Select item 78597011.

Interpreting the pathogenicity of Joubert syndrome missense variants in Caenorhabditis elegans

Karen I. Lange, Sofia Tsiropoulou, Katarzyna Kucharska, Oliver E. Blacque

Dis Model Mech. 2021 Jan 1; 14(1): dmm046631. Published online 2021 Jan 26. doi: 10.1242/dmm.046631

PMCID:: PMC7859701

Select item 55808002.

TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome

Nils J. Lambacher, Ange-Line Bruel, Teunis J. P. van Dam, Katarzyna Szymańska, Gisela G. Slaats, Stefanie Kuhns, Gavin J. McManus, Julie E. Kennedy, Karl Gaff, Ka Man Wu, Robin van der Lee, Lydie Burglen, Diane Doummar, Jean-Baptiste Rivière, Laurence Faivre, Tania Attié-Bitach, Sophie Saunier, Alistair Curd, Michelle Peckham, Rachel H. Giles, Colin A. Johnson, Martijn A. Huynen, Christel Thauvin-Robinet, Oliver E. Blacque

Nat Cell Biol. Author manuscript; available in PMC 2017 Sep 1.

Published in final edited form as: Nat Cell Biol. 2016 Jan; 18(1): 122–131. Published online 2015 Nov 23. doi: 10.1038/ncb3273

PMCID:: PMC5580800

Abstract Article PDF–2.4M

Select item 54242703.

The Ciliary Transition Zone: Finding the Pieces and Assembling the Gate

João Gonçalves, Laurence Pelletier

Mol Cells. 2017 Apr 30; 40(4): 243–253. Published online 2017 Apr 12. doi: 10.14348/molcells.2017.0054

PMCID:: PMC5424270

Abstract Article PDF–1008K

Select item 50230684.

A conserved role for Girdin in basal body positioning and ciliogenesis

Inna V. Nechipurenko, Anique Olivier-Mason, Anna Kazatskaya, Julie Kennedy, Ian G. McLachlan, Maxwell G. Heiman, Oliver E. Blacque, Piali Sengupta

Dev Cell. Author manuscript; available in PMC 2017 Sep 12.

Published in final edited form as: Dev Cell. 2016 Sep 12; 38(5): 493–506. doi: 10.1016/j.devcel.2016.07.013

PMCID:: PMC5023068

Abstract Article PDF–2.2M

Select item 32343735.

TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone

Lijia Huang, Katarzyna Szymanska, Victor L. Jensen, Andreas R. Janecke, A. Micheil Innes, Erica E. Davis, Patrick Frosk, Chunmei Li, Jason R. Willer, Bernard N. Chodirker, Cheryl R. Greenberg, D. Ross McLeod, Francois P. Bernier, Albert E. Chudley, Thomas Müller, Mohammad Shboul, Clare V. Logan, Catrina M. Loucks, Chandree L. Beaulieu, Rachel V. Bowie, Sandra M. Bell, Jonathan Adkins, Freddi I. Zuniga, Kevin D. Ross, Jian Wang, Matthew R. Ban, Christian Becker, Peter Nürnberg, Stuart Douglas, Cheryl M. Craft, Marie-Andree Akimenko, Robert A. Hegele, Carole Ober, Gerd Utermann, Hanno J. Bolz, Dennis E. Bulman, Nicholas Katsanis, Oliver E. Blacque, Dan Doherty, Jillian S. Parboosingh, Michel R. Leroux, Colin A. Johnson, Kym M. Boycott

Am J Hum Genet. 2011 Dec 9; 89(6): 713–730. doi: 10.1016/j.ajhg.2011.11.005

PMCID:: PMC3234373

Abstract Article PDF–2.0M

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