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Select item 89858101.

RNA-based therapies in animal models of Leber congenital amaurosis causing blindness

Xia Wang, Xianghong Shan, Kevin Gregory-Evans, Cheryl Y Gregory-Evans

Precis Clin Med. 2020 Jun; 3(2): 113–126. Published online 2020 Mar 12. doi: 10.1093/pcmedi/pbaa009

PMCID:: PMC8985810

Abstract Article PDF–9.1M

Select item 64576292.

Ciliary genes arl13b, ahi1 and cc2d2a differentially modify expression of visual acuity phenotypes but do not enhance retinal degeneration due to mutation of cep290 in zebrafish

Emma M. Lessieur, Ping Song, Gabrielle C. Nivar, Ellen M. Piccillo, Joseph Fogerty, Richard Rozic, Brian D. Perkins

PLoS One. 2019; 14(4): e0213960. Published online 2019 Apr 10. doi: 10.1371/journal.pone.0213960

PMCID:: PMC6457629

Abstract Article PDF–6.4M

Select item 30639823.

The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness

Lisa M. Baye, Xiaobai Patrinostro, Svetha Swaminathan, John S. Beck, Yan Zhang, Edwin M. Stone, Val C. Sheffield, Diane C. Slusarski

Hum Mol Genet. 2011 Apr 15; 20(8): 1467–1477. Published online 2011 Jan 21. doi: 10.1093/hmg/ddr025

PMCID:: PMC3063982

Abstract Article PDF–428K

Select item 45702894.

A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology

Eugenia Migliavacca, Christelle Golzio, Katrin Männik, Ian Blumenthal, Edwin C. Oh, Louise Harewood, Jack A. Kosmicki, Maria Nicla Loviglio, Giuliana Giannuzzi, Loyse Hippolyte, Anne M. Maillard, Ali Abdullah Alfaiz, 16p11.2 European Consortium, Mieke M. van Haelst, Joris Andrieux, James F. Gusella, Mark J. Daly, Jacques S. Beckmann, Sébastien Jacquemont, Michael E. Talkowski, Nicholas Katsanis, Alexandre Reymond

Am J Hum Genet. 2015 May 7; 96(5): 784–796. doi: 10.1016/j.ajhg.2015.04.002

PMCID:: PMC4570289

Abstract Article PDF–1.2M

Select item 45883055.

DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome

Gisela G. Slaats, Joshua C. Saldivar, Julien Bacal, Michelle K. Zeman, Andrew C. Kile, Ann Marie Hynes, Shalabh Srivastava, Jekaterina Nazmutdinova, Krista den Ouden, Miriam S. Zagers, Veronica Foletto, Marianne C. Verhaar, Colin Miles, John A. Sayer, Karlene A. Cimprich, Rachel H. Giles

J Clin Invest. 2015 Sep 1; 125(9): 3657–3666. Published online 2015 Aug 24. doi: 10.1172/JCI80657

PMCID:: PMC4588305

Abstract Article PDF–3.6M

Select item 34319276.

The centriolar satellite proteins Cep72 and Cep290 interact and are required for recruitment of BBS proteins to the cilium

Timothy R. Stowe, Christopher J. Wilkinson, Anila Iqbal, Tim Stearns

Mol Biol Cell. 2012 Sep 1; 23(17): 3322–3335. doi: 10.1091/mbc.E12-02-0134

PMCID:: PMC3431927

Abstract Article PDF–4.1M

Select item 28022817.

Genetic and physical interaction between the NPHP5 and NPHP6 gene products

Tobias Schäfer, Michael Pütz, Soeren Lienkamp, Athina Ganner, Astrid Bergbreiter, Haribaskar Ramachandran, Verena Gieloff, Martin Gerner, Christian Mattonet, Peter G. Czarnecki, John A. Sayer, Edgar A. Otto, Friedhelm Hildebrandt, Albrecht Kramer-Zucker, Gerd Walz

Hum Mol Genet. 2008 Dec 1; 17(23): 3655–3662. Published online 2008 Aug 23. doi: 10.1093/hmg/ddn260

Correction in:: Hum Mol Genet. 2009 Nov 1; 18(21): 4226.

PMCID:: PMC2802281

Abstract Article PDF–817K

Select item 80175458.

mtor Haploinsufficiency Ameliorates Renal Cysts and Cilia Abnormality in Adult Zebrafish tmem67 Mutants

Ping Zhu, Qi Qiu, Peter C. Harris, Xiaolei Xu, Xueying Lin

J Am Soc Nephrol. 2021 Apr; 32(4): 822–836. Published online 2021 Feb 11. doi: 10.1681/ASN.2020070991

PMCID:: PMC8017545

Abstract Article

Select item 58560059.

Assaying sensory ciliopathies using calcium biosensor expression in zebrafish ciliated olfactory neurons

Judith G. M. Bergboer, Cameron Wyatt, Christina Austin-Tse, Emre Yaksi, Iain A. Drummond

Cilia. 2018; 7: 2. Published online 2018 Mar 15. doi: 10.1186/s13630-018-0056-1

PMCID:: PMC5856005

Abstract Article PDF–1.9M

Select item 527062410.

The Ciliopathy Gene ahi1 Is Required for Zebrafish Cone Photoreceptor Outer Segment Morphogenesis and Survival

Emma M. Lessieur, Joseph Fogerty, Robert J. Gaivin, Ping Song, Brian D. Perkins

Invest Ophthalmol Vis Sci. 2017 Jan; 58(1): 448–460. doi: 10.1167/iovs.16-20326

PMCID:: PMC5270624

Abstract Article PDF–2.1M

Select item 315107211.

Accumulation of the Raf-1 Kinase Inhibitory Protein (Rkip) Is Associated with Cep290-mediated Photoreceptor Degeneration in Ciliopathies

Carlos A. Murga-Zamalloa, Amiya K. Ghosh, Suresh B. Patil, Nathan A. Reed, Lan Sze Chan, Supriya Davuluri, Johan Peränen, Toby W. Hurd, Rivka A. Rachel, Hemant Khanna

J Biol Chem. 2011 Aug 12; 286(32): 28276–28286. Published online 2011 Jun 17. doi: 10.1074/jbc.M111.237560

PMCID:: PMC3151072

Abstract Article PDF–2.5M

Select item 266803412.

CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290

Nicholas T. Gorden, Heleen H. Arts, Melissa A. Parisi, Karlien L.M. Coene, Stef J.F. Letteboer, Sylvia E.C. van Beersum, Dorus A. Mans, Abigail Hikida, Melissa Eckert, Dana Knutzen, Abdulrahman F. Alswaid, Hamit Özyurek, Sel Dibooglu, Edgar A. Otto, Yangfan Liu, Erica E. Davis, Carolyn M. Hutter, Theo K. Bammler, Frederico M. Farin, Michael Dorschner, Meral Topçu, Elaine H. Zackai, Phillip Rosenthal, Kelly N. Owens, Nicholas Katsanis, John B. Vincent, Friedhelm Hildebrandt, Edwin W. Rubel, David W. Raible, Nine V.A.M. Knoers, Phillip F. Chance, Ronald Roepman, Cecilia B. Moens, Ian A. Glass, Dan Doherty

Am J Hum Genet. 2008 Nov 17; 83(5): 559–571. doi: 10.1016/j.ajhg.2008.10.002

PMCID:: PMC2668034

Abstract Article PDF–1.0M

Select item 923629613.

Notch Inhibition Promotes Regeneration and Immunosuppression Supports Cone Survival in a Zebrafish Model of Inherited Retinal Dystrophy

Joseph Fogerty, Ping Song, Patrick Boyd, Sarah E. Grabinski, Thanh Hoang, Adrian Reich, Lauren T. Cianciolo, Seth Blackshaw, Jeff S. Mumm, David R. Hyde, Brian D. Perkins

J Neurosci. 2022 Jun 29; 42(26): 5144–5158. doi: 10.1523/JNEUROSCI.0244-22.2022

PMCID:: PMC9236296

Abstract Article PDF–6.4M

Select item 832595714.

Genetic compensation for cilia defects in cep290 mutants by upregulation of cilia-associated small GTPases

Magdalena Cardenas-Rodriguez, Christina Austin-Tse, Judith G. M. Bergboer, Elisa Molinari, Yuya Sugano, Ruxandra Bachmann-Gagescu, John A. Sayer, Iain A. Drummond

J Cell Sci. 2021 Jul 15; 134(14): jcs258568. Published online 2021 Jul 22. doi: 10.1242/jcs.258568

PMCID:: PMC8325957

Abstract Article

Select item 828597215.

Ciliopathy genes are required for apical secretion of Cochlin, an otolith crystallization factor

Eleni Leventea, Zhou Zhu, Xiaoming Fang, Yulia Nikolaeva, Eleanor Markham, Robert A. Hirst, Fredericus J. M. van Eeden, Jarema J. Malicki

Proc Natl Acad Sci U S A. 2021 Jul 13; 118(28): e2102562118. Published online 2021 Jul 8. doi: 10.1073/pnas.2102562118

PMCID:: PMC8285972

Abstract Article PDF–1.8M

Select item 493867516.

Cilia-Associated Genes Play Differing Roles in Aminoglycoside-Induced Hair Cell Death in Zebrafish

Tamara M. Stawicki, Liana Hernandez, Robert Esterberg, Tor Linbo, Kelly N. Owens, Arish N. Shah, Nihal Thapa, Brock Roberts, Cecilia B. Moens, Edwin W. Rubel, David W. Raible

G3 (Bethesda) 2016 Jul; 6(7): 2225–2235. Published online 2016 May 19. doi: 10.1534/g3.116.030080

PMCID:: PMC4938675

Abstract Article PDF–1.5M

Select item 331446817.

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 930385718.

Specialization of the photoreceptor transcriptome by Srrm3-dependent microexons is required for outer segment maintenance and vision

Ludovica Ciampi, Federica Mantica, Laura López-Blanch, Jon Permanyer, Cristina Rodriguez-Marín, Jingjing Zang, Damiano Cianferoni, Senda Jiménez-Delgado, Sophie Bonnal, Samuel Miravet-Verde, Verena Ruprecht, Stephan C. F. Neuhauss, Sandro Banfi, Sabrina Carrella, Luis Serrano, Sarah A. Head, Manuel Irimia

Proc Natl Acad Sci U S A. 2022 Jul 19; 119(29): e2117090119. Published online 2022 Jul 12. doi: 10.1073/pnas.2117090119

PMCID:: PMC9303857

Abstract Article PDF–3.6M

Select item 1024451319.

Comparative analysis of transcriptional changes in zebrafish cep290 and bbs2 mutants by RNA-seq reveals upregulation of inflammatory and stress-related pathways

Sarah E. Grabinski, Dhwani Parsana, Brian D. Perkins

Front Mol Neurosci. 2023; 16: 1148840. Published online 2023 May 24. doi: 10.3389/fnmol.2023.1148840

PMCID:: PMC10244513

Abstract Article PDF–2.1M

Select item 307130120.

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

Erica E. Davis, Qi Zhang, Qin Liu, Bill H. Diplas, Lisa M. Davey, Jane Hartley, Corinne Stoetzel, Katarzyna Szymanska, Gokul Ramaswami, Clare V. Logan, Donna M. Muzny, Alice C. Young, David A. Wheeler, Pedro Cruz, Margaret Morgan, Lora R. Lewis, Praveen Cherukuri, Baishali Maskeri, Nancy F. Hansen, James C. Mullikin, Robert W. Blakesley, Gerard G. Bouffard, NISC Comparative Sequencing Program, Gabor Gyapay, Susanne Reiger, Burkhard Tönshoff, Ilse Kern, Neveen A. Soliman, Thomas J. Neuhaus, Kathryn J. Swoboda, Hulya Kayserili, Tomas E. Gallagher, Richard A. Lewis, Carsten Bergmann, Edgar A. Otto, Sophie Saunier, Peter J. Scambler, Philip L. Beales, Joseph G. Gleeson, Eamonn R. Maher, Tania Attié-Bitach, Hélène Dollfus, Colin A. Johnson, Eric D. Green, Richard A. Gibbs, Friedhelm Hildebrandt, Eric A. Pierce, Nicholas Katsanis

Nat Genet. Author manuscript; available in PMC 2011 Sep 1.

Published in final edited form as: Nat Genet. 2011 Mar; 43(3): 189–196. Published online 2011 Jan 23. doi: 10.1038/ng.756

PMCID:: PMC3071301

Abstract Article PDF–1.9M

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