PMC Links for Gene (Select 174654) - PMC

Svetlana V. Masyukova, Dawn E. Landis, Scott J. Henke, Corey L. Williams, Jay N. Pieczynski, Kelly N. Roszczynialski, Jannese E. Covington, Erik B. Malarkey, Bradley K. Yoder

PLoS Genet. 2016 Feb; 12(2): e1005841. Published online 2016 Feb 10. doi: 10.1371/journal.pgen.1005841

PMCID:: PMC4749664

Abstract Article PDF–6.6M

Select item 46993585.

KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome

Anna A. W. M. Sanders, Erik de Vrieze, Anas M. Alazami, Fatema Alzahrani, Erik B. Malarkey, Nasrin Sorusch, Lars Tebbe, Stefanie Kuhns, Teunis J. P. van Dam, Amal Alhashem, Brahim Tabarki, Qianhao Lu, Nils J. Lambacher, Julie E. Kennedy, Rachel V. Bowie, Lisette Hetterschijt, Sylvia van Beersum, Jeroen van Reeuwijk, Karsten Boldt, Hannie Kremer, Robert A. Kesterson, Dorota Monies, Mohamed Abouelhoda, Ronald Roepman, Martijn H. Huynen, Marius Ueffing, Rob B. Russell, Uwe Wolfrum, Bradley K. Yoder, Erwin van Wijk, Fowzan S. Alkuraya, Oliver E. Blacque

Genome Biol. 2015; 16: 293. Published online 2015 Dec 29. doi: 10.1186/s13059-015-0858-z

PMCID:: PMC4699358

Abstract Article PDF–4.0M

Select item 78597016.

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

Abstract Article

Select item 55793627.

Centriole translocation and degeneration during ciliogenesis in Caenorhabditis elegans neurons

Wenjing Li, Peishan Yi, Zhiwen Zhu, Xianliang Zhang, Wei Li, Guangshuo Ou

EMBO J. 2017 Sep 1; 36(17): 2553–2566. Published online 2017 Jul 25. doi: 10.15252/embj.201796883

PMCID:: PMC5579362

Abstract Article PDF–1.3M

Select item 43954948.

TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone

Elle C. Roberson, William E. Dowdle, Aysegul Ozanturk, Francesc R. Garcia-Gonzalo, Chunmei Li, Jan Halbritter, Nadia Elkhartoufi, Jonathan D. Porath, Heidi Cope, Allison Ashley-Koch, Simon Gregory, Sophie Thomas, John A. Sayer, Sophie Saunier, Edgar A. Otto, Nicholas Katsanis, Erica E. Davis, Tania Attié-Bitach, Friedhelm Hildebrandt, Michel R. Leroux, Jeremy F. Reiter

J Cell Biol. 2015 Apr 13; 209(1): 129–142. doi: 10.1083/jcb.201411087

PMCID:: PMC4395494

Abstract Article PDF–2.8M

Select item 64820639.

A CCRK and a MAK kinase modulate cilia branching and length via regulation of axonemal microtubule dynamics in Caenorhabditis elegans

Ashish K. Maurya, Travis Rogers, Piali Sengupta

Curr Biol. Author manuscript; available in PMC 2020 Apr 22.

Published in final edited form as: Curr Biol. 2019 Apr 22; 29(8): 1286–1300.e4. Published online 2019 Apr 4. doi: 10.1016/j.cub.2019.02.062

PMCID:: PMC6482063

Abstract Article PDF–2.6M

Select item 323437310.

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

Select item 306314711.

MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis

Corey L. Williams, Chunmei Li, Katarzyna Kida, Peter N. Inglis, Swetha Mohan, Lucie Semenec, Nathan J. Bialas, Rachel M. Stupay, Nansheng Chen, Oliver E. Blacque, Bradley K. Yoder, Michel R. Leroux

J Cell Biol. 2011 Mar 21; 192(6): 1023–1041. doi: 10.1083/jcb.201012116

PMCID:: PMC3063147

Abstract Article PDF–6.2M

Select item 857687112.

WDR60-mediated dynein-2 loading into cilia powers retrograde IFT and transition zone crossing

Ana R.G. De-Castro, Diogo R.M. Rodrigues, Maria J.G. De-Castro, Neide Vieira, Cármen Vieira, Ana X. Carvalho, Reto Gassmann, Carla M.C. Abreu, Tiago J. Dantas

J Cell Biol. 2022 Jan 3; 221(1): e202010178. Published online 2021 Nov 5. doi: 10.1083/jcb.202010178

PMCID:: PMC8576871

Abstract Article PDF–8.1M

Select item 542427013.

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 426574214.

Ciliopathy proteins establish a bipartite signaling compartment in a C. elegans thermosensory neuron

Phuong Anh T. Nguyen, Willisa Liou, David H. Hall, Michel R. Leroux

J Cell Sci. 2014 Dec 15; 127(24): 5317–5330. doi: 10.1242/jcs.157610

PMCID:: PMC4265742

Abstract Article

Select item 406392315.

Diverse Cell Type-Specific Mechanisms Localize G Protein-Coupled Receptors to Caenorhabditis elegans Sensory Cilia

Andrea G. Brear, Jason Yoon, Martin Wojtyniak, Piali Sengupta

Genetics. 2014 Jun; 197(2): 667–684. Published online 2014 Mar 18. doi: 10.1534/genetics.114.161349

PMCID:: PMC4063923

Abstract Article PDF–2.0M

Select item 479424716.

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone

Chunmei Li, Victor L. Jensen, Kwangjin Park, Julie Kennedy, Francesc R. Garcia-Gonzalo, Marta Romani, Roberta De Mori, Ange-Line Bruel, Dominique Gaillard, Bérénice Doray, Estelle Lopez, Jean-Baptiste Rivière, Laurence Faivre, Christel Thauvin-Robinet, Jeremy F. Reiter, Oliver E. Blacque, Enza Maria Valente, Michel R. Leroux

PLoS Biol. 2016 Mar; 14(3): e1002416. Published online 2016 Mar 16. doi: 10.1371/journal.pbio.1002416