PMC Links for GEO Profiles (Select 57245408) - PMC

Melissa R Bentley-Ford, Melissa LaBonty, Holly R Thomas, Courtney J Haycraft, Mikyla Scott, Cameron LaFayette, Mandy J Croyle, Reagan S Andersen, John M Parant, Bradley K Yoder

Genetics. 2022 Jan; 220(1): iyab209. Published online 2021 Nov 22. doi: 10.1093/genetics/iyab209

PMCID:: PMC8733634

Abstract Article PDF–1.8M

Select item 85768714.

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 78597015.

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 62165906.

OrthoList 2: A New Comparative Genomic Analysis of Human and Caenorhabditis elegans Genes

Woojin Kim, Ryan S. Underwood, Iva Greenwald, Daniel D. Shaye

Genetics. 2018 Oct; 210(2): 445–461. Published online 2018 Aug 17. doi: 10.1534/genetics.118.301307

PMCID:: PMC6216590

Abstract Article PDF–1.4M

Select item 55808007.

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 54242708.

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 50230689.

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 479424710.

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

PMCID:: PMC4794247

Abstract Article PDF–8.5M

Select item 474966411.

A Screen for Modifiers of Cilia Phenotypes Reveals Novel MKS Alleles and Uncovers a Specific Genetic Interaction between osm-3 and nphp-4

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 469935812.

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 463500413.

Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling

Laura E. Yee, Francesc R. Garcia-Gonzalo, Rachel V. Bowie, Chunmei Li, Julie K. Kennedy, Kaveh Ashrafi, Oliver E. Blacque, Michel R. Leroux, Jeremy F. Reiter

PLoS Genet. 2015 Nov; 11(11): e1005627. Published online 2015 Nov 5. doi: 10.1371/journal.pgen.1005627

PMCID:: PMC4635004

Abstract Article PDF–7.7M

Select item 449399714.

The ciliary transition zone functions in cell adhesion but is dispensable for axoneme assembly in C. elegans

Clementine Schouteden, Daniel Serwas, Mate Palfy, Alexander Dammermann

J Cell Biol. 2015 Jul 6; 210(1): 947–956. doi: 10.1083/jcb.201501013

PMCID:: PMC4493997

Abstract Article PDF–2.4M

Select item 439549415.

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 426341116.

The nphp-2 and arl-13 Genetic Modules Interact to Regulate Ciliogenesis and Ciliary Microtubule Patterning in C. elegans

Simon R. F. Warburton-Pitt, Malan Silva, Ken C. Q. Nguyen, David H. Hall, Maureen M. Barr

PLoS Genet. 2014 Dec; 10(12): e1004866. Published online 2014 Dec 11. doi: 10.1371/journal.pgen.1004866

PMCID:: PMC4263411

Abstract Article PDF–1.2M

Select item 406392317.

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 340323118.

Ciliogenesis in Caenorhabditis elegans requires genetic interactions between ciliary middle segment localized NPHP-2 (inversin) and transition zone-associated proteins

Simon R. F. Warburton-Pitt, Andrew R. Jauregui, Chunmei Li, Juan Wang, Michel R. Leroux, Maureen M. Barr

J Cell Sci. 2012 Jun 1; 125(11): 2592–2603. doi: 10.1242/jcs.095539

PMCID:: PMC3403231

Abstract Article

Select item 323437319.

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 313104020.

Assessing the pathogenic potential of human Nephronophthisis disease-associated NPHP-4 missense mutations in C. elegans

Svetlana V. Masyukova, Marlene E. Winkelbauer, Corey L. Williams, Jay N. Pieczynski, Bradley K. Yoder

Hum Mol Genet. 2011 Aug 1; 20(15): 2942–2954. Published online 2011 May 5. doi: 10.1093/hmg/ddr198

PMCID:: PMC3131040

Abstract Article PDF–433K

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