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Select item 60809251.

SPATA7 maintains a novel photoreceptor-specific zone in the distal connecting cilium

Rachayata Dharmat, Aiden Eblimit, Michael A. Robichaux, Zhixian Zhang, Thanh-Minh T. Nguyen, Sung Yun Jung, Feng He, Antrix Jain, Yumei Li, Jun Qin, Paul Overbeek, Ronald Roepman, Graeme Mardon, Theodore G. Wensel, Rui Chen

J Cell Biol. 2018 Aug 6; 217(8): 2851–2865. doi: 10.1083/jcb.201712117

PMCID:: PMC6080925

Abstract Article PDF–2.8M

Select item 58976012.

Centrosomal protein Dzip1l binds Cby, promotes ciliary bud formation, and acts redundantly with Bromi to regulate ciliogenesis in the mouse

Chengbing Wang, Jia Li, Ken-Ichi Takemaru, Xiaogang Jiang, Guoqiang Xu, Baolin Wang

Development. 2018 Mar 15; 145(6): dev164236. doi: 10.1242/dev.164236

PMCID:: PMC5897601

Abstract Article

Select item 57182733.

Prospective Evaluation of Kidney Disease in Joubert Syndrome

Leah R. Fleming, Daniel A. Doherty, Melissa A. Parisi, Ian A. Glass, Joy Bryant, Roxanne Fischer, Baris Turkbey, Peter Choyke, Kailash Daryanani, Meghana Vemulapalli, James C. Mullikin, May Christine Malicdan, Thierry Vilboux, John A. Sayer, William A. Gahl, Meral Gunay-Aygun

Clin J Am Soc Nephrol. 2017 Dec 7; 12(12): 1962–1973. Published online 2017 Nov 16. doi: 10.2215/CJN.05660517

PMCID:: PMC5718273

Abstract Article

Select item 55172944.

Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes

May Christine V Malicdan, Thierry Vilboux, Joshi Stephen, Dino Maglic, Luhe Mian, Daniel Konzman, Jennifer Guo, Deniz Yildirimli, Joy Bryant, Roxanne Fischer, Wadih M Zein, Joseph Snow, Meghana Vemulapalli, James C Mullikin, Camilo Toro, Benjamin D Solomon, John E Niederhuber, NISC Comparative Sequencing Program, William A Gahl, Meral Gunay-Aygun

J Med Genet. Author manuscript; available in PMC 2017 Jul 19.

Published in final edited form as: J Med Genet. 2015 Dec; 52(12): 830–839. Published online 2015 Sep 18. doi: 10.1136/jmedgenet-2015-103316

PMCID:: PMC5517294

Abstract Article PDF–1.1M

Select item 52704785.

DAZ-interacting Protein 1 (Dzip1) Phosphorylation by Polo-like Kinase 1 (Plk1) Regulates the Centriolar Satellite Localization of the BBSome Protein during the Cell Cycle

Boyan Zhang, Gang Wang, Xiaowei Xu, Sisi Yang, Tenghan Zhuang, Guopeng Wang, He Ren, Steven Y. Cheng, Qing Jiang, Chuanmao Zhang

J Biol Chem. 2017 Jan 27; 292(4): 1351–1360. Published online 2016 Dec 15. doi: 10.1074/jbc.M116.765438

PMCID:: PMC5270478

Abstract Article PDF–3.3M

Select item 50625896.

Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR

Kollu N. Rao, Wei Zhang, Linjing Li, Cecinio Ronquillo, Wolfgang Baehr, Hemant Khanna

Hum Mol Genet. 2016 May 15; 25(10): 2005–2012. Published online 2016 Mar 2. doi: 10.1093/hmg/ddw075

PMCID:: PMC5062589

Abstract Article PDF–928K

Select item 50230687.

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 46175408.

Global genetic analysis in mice unveils central role for cilia in congenital heart disease

You Li, Nikolai T. Klena, George C Gabriel, Xiaoqin Liu, Andrew J. Kim, Kristi Lemke, Yu Chen, Bishwanath Chatterjee, William Devine, Rama Rao Damerla, Chien-fu Chang, Hisato Yagi, Jovenal T. San Agustin, Mohamed Thahir, Shane Anderton, Caroline Lawhead, Anita Vescovi, Herbert Pratt, Judy Morgan, Leslie Haynes, Cynthia L. Smith, Janan T. Eppig, Laura Reinholdt, Richard Francis, Linda Leatherbury, Madhavi K. Ganapathiraju, Kimimasa Tobita, Gregory J. Pazour, Cecilia W. Lo

Nature. Author manuscript; available in PMC 2015 Nov 28.

Published in final edited form as: Nature. 2015 May 28; 521(7553): 520–524. Published online 2015 Mar 25. doi: 10.1038/nature14269

PMCID:: PMC4617540

Abstract Article PDF–518K

Select item 40788049.

Primary cilia control hedgehog signaling during muscle differentiation and are deregulated in rhabdomyosarcoma

Wenxiang Fu, Patrik Asp, Brian Canter, Brian David Dynlacht

Proc Natl Acad Sci U S A. 2014 Jun 24; 111(25): 9151–9156. Published online 2014 Jun 9. doi: 10.1073/pnas.1323265111

PMCID:: PMC4078804

Abstract Article PDF–1.4M

Select item 401949410.

Casein kinase 1δ functions at the centrosome and Golgi to promote ciliogenesis

Yoshimi Endo Greer, Christopher J. Westlake, Bo Gao, Kapil Bharti, Yoko Shiba, Charles P. Xavier, Gregory J. Pazour, Yingzi Yang, Jeffrey S. Rubin

Mol Biol Cell. 2014 May 15; 25(10): 1629–1640. doi: 10.1091/mbc.E13-10-0598

PMCID:: PMC4019494

Abstract Article PDF–3.6M

Select item 396684111.

Natural History of Cone Disease in the Murine Model of Leber Congenital Amaurosis Due to CEP290 Mutation: Determining the Timing and Expectation of Therapy

Shannon E. Boye, Wei-Chieh Huang, Alejandro J. Roman, Alexander Sumaroka, Sanford L. Boye, Renee C. Ryals, Melani B. Olivares, Qing Ruan, Budd A. Tucker, Edwin M. Stone, Anand Swaroop, Artur V. Cideciyan, William W. Hauswirth, Samuel G. Jacobson

PLoS One. 2014; 9(3): e92928. Published online 2014 Mar 26. doi: 10.1371/journal.pone.0092928

PMCID:: PMC3966841

Abstract Article PDF–5.2M

Select item 392604612.

C2cd3 is critical for centriolar distal appendage assembly and ciliary vesicle docking in mammals

Xuan Ye, Huiqing Zeng, Gang Ning, Jeremy F. Reiter, Aimin Liu

Proc Natl Acad Sci U S A. 2014 Feb 11; 111(6): 2164–2169. Published online 2014 Jan 27. doi: 10.1073/pnas.1318737111

PMCID:: PMC3926046

Abstract Article PDF–1.2M

Select item 392368313.

The Centriolar Satellite Protein AZI1 Interacts with BBS4 and Regulates Ciliary Trafficking of the BBSome

Xitiz Chamling, Seongjin Seo, Charles C. Searby, GunHee Kim, Diane C. Slusarski, Val C. Sheffield

PLoS Genet. 2014 Feb; 10(2): e1004083. Published online 2014 Feb 13. doi: 10.1371/journal.pgen.1004083

PMCID:: PMC3923683

Abstract Article PDF–1.6M

Select item 389718614.

The CP110-interacting proteins Talpid3 and Cep290 play overlapping and distinct roles in cilia assembly

Tetsuo Kobayashi, Sehyun Kim, Yu-Chun Lin, Takanari Inoue, Brian David Dynlacht

J Cell Biol. 2014 Jan 20; 204(2): 215–229. doi: 10.1083/jcb.201304153

PMCID:: PMC3897186

Abstract Article PDF–3.5M

Select item 388713315.

Acute Versus Chronic Loss of Mammalian Azi1/Cep131 Results in Distinct Ciliary Phenotypes

Emma A. Hall, Margaret Keighren, Matthew J. Ford, Tracey Davey, Andrew P. Jarman, Lee B. Smith, Ian J. Jackson, Pleasantine Mill

PLoS Genet. 2013 Dec; 9(12): e1003928. Published online 2013 Dec 26. doi: 10.1371/journal.pgen.1003928

PMCID:: PMC3887133

Abstract Article PDF–21M

Select item 385794316.

BBS mutations modify phenotypic expression of CEP290-related ciliopathies

Yan Zhang, Seongjin Seo, Sajag Bhattarai, Kevin Bugge, Charles C. Searby, Qihong Zhang, Arlene V. Drack, Edwin M. Stone, Val C. Sheffield

Hum Mol Genet. 2014 Jan 1; 23(1): 40–51. Published online 2013 Aug 13. doi: 10.1093/hmg/ddt394

PMCID:: PMC3857943

Abstract Article PDF–1.7M

Select item 346967417.

3D spheroid defects in NPHP knockdown cells are rescued by the somatostatin receptor agonist octreotide

Amiya K. Ghosh, Toby Hurd, Friedhelm Hildebrandt

Am J Physiol Renal Physiol. 2012 Oct 15; 303(8): F1225–F1229. Published online 2012 Jul 25. doi: 10.1152/ajprenal.00135.2012

PMCID:: PMC3469674

Abstract Article

Select item 338306518.

Mapping the Nephronophthisis-Joubert-Meckel-Gruber Protein Network Reveals Ciliopathy Disease Genes and Pathways

Liyun Sang, Julie J. Miller, Kevin C. Corbit, Rachel H. Giles, Matthew J. Brauer, Edgar A. Otto, Lisa M. Baye, Xiaohui Wen, Suzie J. Scales, Mandy Kwong, Erik G. Huntzicker, Mindan K. Sfakianos, Wendy Sandoval, J. Fernando Bazan, Priya Kulkarni, Francesc R. Garcia-Gonzalo, Allen D. Seol, John F. O'Toole, Susanne Held, Heiko M. Reutter, William S. Lane, Muhammad Arshad Rafiq, Abdul Noor, Muhammad Ansar, Akella Radha Rama Devi, Val C. Sheffield, Diane C. Slusarski, John B. Vincent, Daniel A. Doherty, Friedhelm Hildebrandt, Jeremy F. Reiter, Peter K. Jackson

Cell. Author manuscript; available in PMC 2012 Jun 26.

Published in final edited form as: Cell. 2011 May 13; 145(4): 513–528. doi: 10.1016/j.cell.2011.04.019

PMCID:: PMC3383065

Abstract Article PDF–2.0M

Select item 331446819.

Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis

Rivka A. Rachel, Helen L. May-Simera, Shobi Veleri, Norimoto Gotoh, Byung Yoon Choi, Carlos Murga-Zamalloa, Jeremy C. McIntyre, Jonah Marek, Irma Lopez, Alice N. Hackett, Matthew Brooks, Anneke I. den Hollander, Philip L. Beales, Tiansen Li, Samuel G. Jacobson, Raman Sood, Jeffrey R. Martens, Paul Liu, Thomas B. Friedman, Hemant Khanna, Robert K. Koenekoop, Matthew W. Kelley, Anand Swaroop

J Clin Invest. 2012 Apr 2; 122(4): 1233–1245. Published online 2012 Mar 26. doi: 10.1172/JCI60981

Correction in:: J Clin Invest. 2012 Aug 1; 122(8): 3025.

PMCID:: PMC3314468

Abstract Article PDF–1.6M

Select item 317805920.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

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