PMC Links for Nucleotide (Select 1675178744) - PMC

Select item 60980201.

Axoneme polyglutamylation regulated by Joubert syndrome protein ARL13B controls ciliary targeting of signaling molecules

Kai He, Xiaoyu Ma, Tao Xu, Yan Li, Allen Hodge, Qing Zhang, Julia Torline, Yan Huang, Jian Zhao, Kun Ling, Jinghua Hu

Nat Commun. 2018; 9: 3310. Published online 2018 Aug 17. doi: 10.1038/s41467-018-05867-1

PMCID:: PMC6098020

Abstract Article PDF–6.7M

Select item 59925852.

The Joubert syndrome protein ARL13B binds tubulin to maintain uniform distribution of proteins along the ciliary membrane

Ekaterina Revenkova, Qing Liu, G. Luca Gusella, Carlo Iomini

J Cell Sci. 2018 May 1; 131(9): jcs212324. Published online 2018 May 4. doi: 10.1242/jcs.212324

PMCID:: PMC5992585

Abstract Article

Select item 58161363.

Disruption of the ciliary GTPase Arl13b suppresses Sonic hedgehog overactivation and inhibits medulloblastoma formation

Sarah N. Bay, Alyssa B. Long, Tamara Caspary

Proc Natl Acad Sci U S A. 2018 Feb 13; 115(7): 1570–1575. Published online 2018 Jan 29. doi: 10.1073/pnas.1706977115

PMCID:: PMC5816136

Abstract Article PDF–1.2M

Select item 24950724.

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

Abstract Article PDF–1.0M

Select item 20648545.

Functional dissection of Rab GTPases involved in primary cilium formation

Shin-ichiro Yoshimura, Johannes Egerer, Evelyn Fuchs, Alexander K. Haas, Francis A. Barr

J Cell Biol. 2007 Jul 30; 178(3): 363–369. doi: 10.1083/jcb.200703047

PMCID:: PMC2064854

Abstract Article PDF–3.8M

Select item 62314396.

Potential oligogenic disease of mental retardation, short stature, spastic paraparesis, and osteopetrosis

Abdulaziz Alsemari, Mohanned Alsuhaibani, Rawabi Alhathlool, Bayan Mamdouh Ali

Appl Clin Genet. 2018; 11: 129–134. Published online 2018 Nov 8. doi: 10.2147/TACG.S172176

PMCID:: PMC6231439

Abstract Article PDF–1.6M

Select item 50159787.

Arl13b Interacts With Vangl2 to Regulate Cilia and Photoreceptor Outer Segment Length in Zebrafish

Ping Song, Lynn Dudinsky, Joseph Fogerty, Robert Gaivin, Brian D. Perkins

Invest Ophthalmol Vis Sci. 2016 Aug; 57(10): 4517–4526. Published online 2016 Aug 29. doi: 10.1167/iovs.16-19898

PMCID:: PMC5015978

Abstract Article PDF–1.6M

Select item 39130438.

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

Abstract Article PDF–3.0M

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