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Items: 11

1.
Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity
Sophie Thomas, Vincent Cantagrel, Laura Mariani, Valérie Serre, Ji-Eun Lee, Nadia Elkhartoufi, Pascale de Lonlay, Isabelle Desguerre, Arnold Munnich, Nathalie Boddaert, Stanislas Lyonnet, Michel Vekemans, Steven N Lisgo, Tamara Caspary, Joseph Gleeson, Tania Attié-Bitach
Eur J Hum Genet. 2015 May; 23(5): 621–627. Published online 2014 Aug 20. doi: 10.1038/ejhg.2014.156
PMCID:
PMC4402632
AbstractArticlePDF–1.9M
2.
Mutation Analysis of 18 Nephronophthisis-associated Ciliopathy Disease Genes using a DNA Pooling and Next-Generation Sequencing Strategy
Edgar A. Otto, Gokul Ramaswami, Sabine Janssen, Moumita Chaki, Susan J. Allen, Weibin Zhou, Rannar Airik, Toby W. Hurd, Amiya K. Ghosh, Matthias T. Wolf, Bernd Hoppe, Thomas J. Neuhaus, Detlef Bockenhauer, David V. Milford, Neveen A. Soliman, the GPN Study Group, Corinne Antignac, Sophie Saunier, Colin A. Johnson, Friedhelm Hildebrandt
J Med Genet. Author manuscript; available in PMC 2014 Feb 4.
Published in final edited form as: J Med Genet. 2011 Feb; 48(2): 105–116. Published online 2010 Nov 10. doi: 10.1136/jmg.2010.082552
Correction in:
J Med Genet. 2015 Dec; 52(12): 866.
PMCID:
PMC3913043
AbstractArticlePDF–3.0M
3.
Active Transport and Diffusion Barriers Restrict Joubert Syndrome-Associated ARL13B/ARL-13 to an Inv-like Ciliary Membrane Subdomain
Sebiha Cevik, Anna A. W. M. Sanders, Erwin Van Wijk, Karsten Boldt, Lara Clarke, Jeroen van Reeuwijk, Yuji Hori, Nicola Horn, Lisette Hetterschijt, Anita Wdowicz, Andrea Mullins, Katarzyna Kida, Oktay I. Kaplan, Sylvia E. C. van Beersum, Ka Man Wu, Stef J. F. Letteboer, Dorus A. Mans, Toshiaki Katada, Kenji Kontani, Marius Ueffing, Ronald Roepman, Hannie Kremer, Oliver E. Blacque
PLoS Genet. 2013 Dec; 9(12): e1003977. Published online 2013 Dec 5. doi: 10.1371/journal.pgen.1003977
PMCID:
PMC3854969
AbstractArticlePDF–2.6M
4.
Pitchfork Regulates Primary Cilia Dizsassembly and Left-Right Asymmetry
Doris Kinzel, Karsten Boldt, Erica E. Davis, Ingo Burtscher, Dietrich Trümbach, Bill Diplas, Tania Attié-Bitach, Wolfgang Wurst, Nicholas Katsanis, Marius Ueffing, Heiko Lickert
Dev Cell. Author manuscript; available in PMC 2013 Jun 4.
Published in final edited form as: Dev Cell. 2010 Jul 20; 19(1): 66–77. doi: 10.1016/j.devcel.2010.06.005
PMCID:
PMC3671612
AbstractArticlePDF–4.7M
5.
Arl13b regulates endocytic recycling traffic
Duarte C. Barral, Salil Garg, Cristina Casalou, Gerald F. M. Watts, José L. Sandoval, José S. Ramalho, Victor W. Hsu, Michael B. Brenner
Proc Natl Acad Sci U S A. 2012 Dec 26; 109(52): 21354–21359. Published online 2012 Dec 7. doi: 10.1073/pnas.1218272110
PMCID:
PMC3535586
AbstractArticlePDF–983K
6.
ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting
Melissa C. Humbert, Katie Weihbrecht, Charles C. Searby, Yalan Li, Robert M. Pope, Val C. Sheffield, Seongjin Seo
Proc Natl Acad Sci U S A. 2012 Nov 27; 109(48): 19691–19696. Published online 2012 Nov 12. doi: 10.1073/pnas.1210916109
PMCID:
PMC3511769
AbstractArticlePDF–905K
7.
SUMOylation of the small GTPase ARL-13 promotes ciliary targeting of sensory receptors
Yujie Li, Qing Zhang, Qing Wei, Yuxia Zhang, Kun Ling, Jinghua Hu
J Cell Biol. 2012 Nov 12; 199(4): 589–598. doi: 10.1083/jcb.201203150
Correction in:
J Cell Biol. 2013 Feb 4; 200(3): 357.
PMCID:
PMC3494855
AbstractArticlePDF–2.4M
8.
Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome
Vincent Cantagrel, Jennifer L. Silhavy, Stephanie L. Bielas, Dominika Swistun, Sarah E. Marsh, Julien Y. Bertrand, Sophie Audollent, Tania Attié-Bitach, Kenton R. Holden, William B. Dobyns, David Traver, Lihadh Al-Gazali, Bassam R. Ali, Tom H. Lindner, Tamara Caspary, Edgar A. Otto, Friedhelm Hildebrandt, Ian A. Glass, Clare V. Logan, Colin A. Johnson, Christopher Bennett, Francesco Brancati, The International Joubert Syndrome Related Disorders (JSRD) Study Group, Enza Maria Valente, C. Geoffrey Woods, Joseph G. Gleeson
Am J Hum Genet. 2008 Aug 8; 83(2): 170–179. Published online 2008 Aug 1. doi: 10.1016/j.ajhg.2008.06.023
PMCID:
PMC2495072
AbstractArticlePDF–1.0M
9.
The full-ORF clone resource of the German cDNA Consortium
Stephanie Bechtel, Heiko Rosenfelder, Anny Duda, Christian Peter Schmidt, Ute Ernst, Ruth Wellenreuther, Alexander Mehrle, Claudia Schuster, Andre Bahr, Helmut Blöcker, Dagmar Heubner, Andreas Hoerlein, Guenter Michel, Holger Wedler, Karl Köhrer, Birgit Ottenwälder, Annemarie Poustka, Stefan Wiemann, Ingo Schupp
BMC Genomics. 2007; 8: 399. Published online 2007 Oct 31. doi: 10.1186/1471-2164-8-399
PMCID:
PMC2213676
AbstractArticlePDF–939K
10.
The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)
Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504
Correction in:
Genome Res. 2006 Jun; 16(6): 804.
PMCID:
PMC528928
AbstractArticlePDF–140K
11.
A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity
Rafiullah Rafiullah, Alyssa B. Long, Anna A. Ivanova, Hazrat Ali, Simone Berkel, Ghulam Mustafa, Nagarajan Paramasivam, Matthias Schlesner, Stefan Wiemann, Rebecca C. Wade, Eugen Bolthauser, Martin Blum, Richard A. Kahn, Tamara Caspary, Gudrun A. Rappold
Eur J Hum Genet. 2017 Dec; 25(12): 1324–1334. Published online 2017 Nov 15. doi: 10.1038/s41431-017-0031-0
PMCID:
PMC5865152
AbstractArticlePDF–1.9M

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