PMC Links for GEO Profiles (Select 66460776) - PMC

Select item 98441361.

Variable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants

Jun Wang, Holly R. Thomas, Robert G. Thompson, Stephanie C. Waldrep, Joseph Fogerty, Ping Song, Zhang Li, Yongjie Ma, Peu Santra, Jonathan D. Hoover, Nan Cher Yeo, Iain A. Drummond, Bradley K. Yoder, Jeffrey D. Amack, Brian Perkins, John M. Parant

Dis Model Mech. 2022 Dec 1; 15(12): dmm049568. Published online 2022 Dec 19. doi: 10.1242/dmm.049568

PMCID:: PMC9844136

Abstract Article

Select item 93038572.

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 80175453.

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 70442404.

Mechanotransduction Activity Facilitates Hair Cell Toxicity Caused by the Heavy Metal Cadmium

Caleigh Schmid, Isabella Alampi, Jay Briggs, Kelly Tarcza, Tamara M. Stawicki

Front Cell Neurosci. 2020; 14: 37. Published online 2020 Feb 20. doi: 10.3389/fncel.2020.00037

PMCID:: PMC7044240

Abstract Article PDF–3.8M

Select item 57601005.

Loss-of-function of the ciliopathy protein Cc2d2a disorganizes the vesicle fusion machinery at the periciliary membrane and indirectly affects Rab8-trafficking in zebrafish photoreceptors

Irene Ojeda Naharros, Matthias Gesemann, José M. Mateos, Gery Barmettler, Austin Forbes, Urs Ziegler, Stephan C. F. Neuhauss, Ruxandra Bachmann-Gagescu

PLoS Genet. 2017 Dec; 13(12): e1007150. Published online 2017 Dec 27. doi: 10.1371/journal.pgen.1007150

PMCID:: PMC5760100

Abstract Article PDF–58M

Select item 52706246.

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 49386757.

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 46341378.

RFX transcription factors are essential for hearing in mice

Ran Elkon, Beatrice Milon, Laura Morrison, Manan Shah, Sarath Vijayakumar, Manoj Racherla, Carmen C. Leitch, Lorna Silipino, Shadan Hadi, Michèle Weiss-Gayet, Emmanuèle Barras, Christoph D. Schmid, Aouatef Ait-Lounis, Ashley Barnes, Yang Song, David J. Eisenman, Efrat Eliyahu, Gregory I. Frolenkov, Scott E. Strome, Bénédicte Durand, Norann A. Zaghloul, Sherri M. Jones, Walter Reith, Ronna Hertzano

Nat Commun. 2015; 6: 8549. Published online 2015 Oct 15. doi: 10.1038/ncomms9549

PMCID:: PMC4634137

Abstract Article PDF–5.5M

Select item 46177019.

The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking

Ruxandra Bachmann-Gagescu, Margo Dona, Lisette Hetterschijt, Edith Tonnaer, Theo Peters, Erik de Vrieze, Dorus A. Mans, Sylvia E. C. van Beersum, Ian G. Phelps, Heleen H. Arts, Jan E. Keunen, Marius Ueffing, Ronald Roepman, Karsten Boldt, Dan Doherty, Cecilia B. Moens, Stephan C. F. Neuhauss, Hannie Kremer, Erwin van Wijk

PLoS Genet. 2015 Oct; 11(10): e1005575. Published online 2015 Oct 20. doi: 10.1371/journal.pgen.1005575

PMCID:: PMC4617701

Abstract Article PDF–13M

Select item 422673610.

Clarin-1 acts as a modulator of mechanotransduction activity and presynaptic ribbon assembly

Oluwatobi Ogun, Marisa Zallocchi

J Cell Biol. 2014 Nov 10; 207(3): 375–391. doi: 10.1083/jcb.201404016

PMCID:: PMC4226736

Abstract Article PDF–3.9M

Select item 317805911.

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

Select item 317765412.

The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking

Ruxandra Bachmann-Gagescu, Ian G. Phelps, George Stearns, Brian A. Link, Susan E. Brockerhoff, Cecilia B. Moens, Dan Doherty

Hum Mol Genet. 2011 Oct 15; 20(20): 4041–4055. Published online 2011 Aug 4. doi: 10.1093/hmg/ddr332

PMCID:: PMC3177654

Abstract Article PDF–751K

Select item 316748113.

Response of mechanosensory hair cells of the zebrafish lateral line to aminoglycosides reveals distinct cell death pathways

Kelly N. Owens, Allison B. Coffin, Lisa S. Hong, Keri O’Connell Bennett, Edwin W Rubel, David W. Raible

Hear Res. Author manuscript; available in PMC 2011 Sep 6.

Published in final edited form as: Hear Res. 2009 Jul; 253(1-2): 32–41. Published online 2009 Mar 11. doi: 10.1016/j.heares.2009.03.001

PMCID:: PMC3167481

Abstract Article PDF–469K

Select item 266803414.

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 226547815.

Identification of Genetic and Chemical Modulators of Zebrafish Mechanosensory Hair Cell Death

Kelly N. Owens, Felipe Santos, Brock Roberts, Tor Linbo, Allison B. Coffin, Anna J. Knisely, Julian A. Simon, Edwin W. Rubel, David W. Raible

PLoS Genet. 2008 Feb; 4(2): e1000020. Published online 2008 Feb 29. doi: 10.1371/journal.pgen.1000020

PMCID:: PMC2265478

Abstract Article PDF–792K

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