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Items: 1 to 20 of 25

1.
Interpreting ciliopathy-associated missense variants of uncertain significance (VUS) in Caenorhabditis elegans
Karen I Lange, Sunayna Best, Sofia Tsiropoulou, Ian Berry, Colin A Johnson, Oliver E Blacque
Hum Mol Genet. 2022 May 15; 31(10): 1574–1587. Published online 2021 Nov 20. doi: 10.1093/hmg/ddab344
PMCID:
PMC9122650
AbstractArticlePDF–1.8M
2.
Evolutionarily conserved genetic interactions between nphp-4 and bbs-5 mutations exacerbate ciliopathy phenotypes
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
AbstractArticlePDF–1.8M
3.
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
AbstractArticlePDF–8.1M
4.
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
AbstractArticle
5.
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
AbstractArticlePDF–1.4M
6.
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
AbstractArticlePDF–2.4M
7.
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
AbstractArticlePDF–1008K
8.
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
AbstractArticlePDF–2.2M
9.
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
AbstractArticlePDF–8.5M
10.
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
AbstractArticlePDF–6.6M
11.
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
AbstractArticlePDF–4.0M
12.
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
AbstractArticlePDF–7.7M
13.
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
AbstractArticlePDF–2.4M
14.
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
AbstractArticlePDF–2.8M
15.
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
AbstractArticlePDF–1.2M
16.
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
AbstractArticlePDF–2.0M
17.
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
AbstractArticle
18.
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
AbstractArticlePDF–2.0M
19.
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
AbstractArticlePDF–433K
20.
OrthoList: A Compendium of C. elegans Genes with Human Orthologs
Daniel D. Shaye, Iva Greenwald
PLoS One. 2011; 6(5): e20085. Published online 2011 May 25. doi: 10.1371/journal.pone.0020085
Correction in:
PLoS One. 2014; 9(1): 10.1371/annotation/f5ffb738-a176-4a43-b0e0-249cdea45fe0.
PMCID:
PMC3102077
AbstractArticlePDF–530K

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