PMC Links for GEO Profiles (Select 66454909) - PMC

Select item 100139241.

Ependymal polarity defects coupled with disorganized ciliary beating drive abnormal cerebrospinal fluid flow and spine curvature in zebrafish

Haibo Xie, Yunsi Kang, Junjun Liu, Min Huang, Zhicheng Dai, Jiale Shi, Shuo Wang, Lanqin Li, Yuan Li, Pengfei Zheng, Yi Sun, Qize Han, Jingjing Zhang, Zezhang Zhu, Leilei Xu, Pamela C. Yelick, Muqing Cao, Chengtian Zhao

PLoS Biol. 2023 Mar; 21(3): e3002008. Published online 2023 Mar 2. doi: 10.1371/journal.pbio.3002008

PMCID:: PMC10013924

Article PDF–6.6M

Select item 98441362.

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

Article

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

Article

Select item 55790204.

Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome

So-Hyun Lee, Tai-Seung Nam, Wenting Li, Jung Ha Kim, Woong Yoon, Yoo-Duk Choi, Kun-Hee Kim, Hua Cai, Min Jung Kim, Changsoo Kim, Hyon E. Choy, Nacksung Kim, Kee Oh Chay, Myeong-Kyu Kim, Seok-Yong Choi

Sci Rep. 2017; 7: 10222. Published online 2017 Aug 31. doi: 10.1038/s41598-017-10652-z

PMCID:: PMC5579020

Article PDF–2.7M

Select item 54316435.

An ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations

C. Stayner, C. A. Poole, S. R. McGlashan, M. Pilanthananond, R. Brauning, D. Markie, B. Lett, L. Slobbe, A. Chae, A. C. Johnstone, C. G. Jensen, J. C. McEwan, K. Dittmer, K. Parker, A. Wiles, W. Blackburne, A. Leichter, M. Leask, A. Pinnapureddy, M. Jennings, J. A. Horsfield, R. J. Walker, M. R. Eccles

Sci Rep. 2017; 7: 1601. Published online 2017 May 9. doi: 10.1038/s41598-017-01519-4

PMCID:: PMC5431643

Article PDF–5.0M

Select item 48707326.

Gene evolution and gene expression after whole genome duplication in fish: the PhyloFish database

Jeremy Pasquier, Cédric Cabau, Thaovi Nguyen, Elodie Jouanno, Dany Severac, Ingo Braasch, Laurent Journot, Pierre Pontarotti, Christophe Klopp, John H. Postlethwait, Yann Guiguen, Julien Bobe

BMC Genomics. 2016; 17: 368. Published online 2016 May 18. doi: 10.1186/s12864-016-2709-z

PMCID:: PMC4870732

Article PDF–1.8M

Select item 46341377.

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

Article PDF–5.5M

Select item 45031118.

A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China

Manli Zhang, Jing Cheng, Aijun Liu, Longxia Wang, Lihua Xiong, Meixia Chen, Yi Sun, Jianzhong Li, Yu Lu, Huijun Yuan, Yali Li, Yanping Lu

Int J Clin Exp Pathol. 2015; 8(5): 5379–5386. Published online 2015 May 1.

PMCID:: PMC4503111

Article PDF–1.2M

Select item 36956499.

The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity

Amanda C. Leightner, Cynthia J. Hommerding, Ying Peng, Jeffrey L. Salisbury, Vladimir G. Gainullin, Peter G. Czarnecki, Caroline R. Sussman, Peter C. Harris

Hum Mol Genet. 2013 May 15; 22(10): 2024–2040. Published online 2013 Feb 7. doi: 10.1093/hmg/ddt054

PMCID:: PMC3695649

Article PDF–1.2M

Select item 328411710.

A meckelin–filamin A interaction mediates ciliogenesis

Matthew Adams, Roslyn J. Simms, Zakia Abdelhamed, Helen R. Dawe, Katarzyna Szymanska, Clare V. Logan, Gabrielle Wheway, Eva Pitt, Keith Gull, Margaret A. Knowles, Edward Blair, Sally H. Cross, John A. Sayer, Colin A. Johnson

Hum Mol Genet. 2012 Mar 15; 21(6): 1272–1286. Published online 2011 Nov 25. doi: 10.1093/hmg/ddr557

PMCID:: PMC3284117

Article PDF–722K

Select item 323437311.

TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone

Lijia Huang, Katarzyna Szymanska, Victor L. Jensen, Andreas R. Janecke, A. Micheil Innes, Erica E. Davis, Patrick Frosk, Chunmei Li, Jason R. Willer, Bernard N. Chodirker, Cheryl R. Greenberg, D. Ross McLeod, Francois P. Bernier, Albert E. Chudley, Thomas Müller, Mohammad Shboul, Clare V. Logan, Catrina M. Loucks, Chandree L. Beaulieu, Rachel V. Bowie, Sandra M. Bell, Jonathan Adkins, Freddi I. Zuniga, Kevin D. Ross, Jian Wang, Matthew R. Ban, Christian Becker, Peter Nürnberg, Stuart Douglas, Cheryl M. Craft, Marie-Andree Akimenko, Robert A. Hegele, Carole Ober, Gerd Utermann, Hanno J. Bolz, Dennis E. Bulman, Nicholas Katsanis, Oliver E. Blacque, Dan Doherty, Jillian S. Parboosingh, Michel R. Leroux, Colin A. Johnson, Kym M. Boycott

Am J Hum Genet. 2011 Dec 9; 89(6): 713–730. doi: 10.1016/j.ajhg.2011.11.005

PMCID:: PMC3234373

Article PDF–2.0M

Select item 317805912.

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

Article PDF–1.0M

Select item 289401213.

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Enza Maria Valente, Clare V. Logan, Soumaya Mougou-Zerelli, Jeong Ho Lee, Jennifer L. Silhavy, Francesco Brancati, Miriam Iannicelli, Lorena Travaglini, Sveva Romani, Barbara Illi, Matthew Adams, Katarzyna Szymanska, Annalisa Mazzotta, Ji Eun Lee, Jerlyn C. Tolentino, Dominika Swistun, Carmelo D. Salpietro, Carmelo Fede, Stacey Gabriel, Carsten Russ, Kristian Cibulskis, Carrie Sougnez, Friedhelm Hildebrandt, Edgar A. Otto, Susanne Held, Bill H. Diplas, Erica Davis, Mario Mikula, Charles M. Strom, Bruria Ben-Ze’ev, Dorit Lev, Tally Lerman Sagie, Marina Michelson, Yuval Yaron, Amanda Krause, Eugen Boltshauser, Nadia Elkhartoufi, Joelle Roume, Stavit Shalev, Arnold Munnich, Sophie Saunier, Chris Inglehearn, Ali Saad, Adila Alkindy, Sophie Thomas, Michel Vekemans, Bruno Dallapiccola, Nicholas Katsanis, Colin A. Johnson, Tania Attié-Bitach, Joseph G. Gleeson

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

Published in final edited form as: Nat Genet. 2010 Jul; 42(7): 619–625. Published online 2010 May 30. doi: 10.1038/ng.594

PMCID:: PMC2894012

Article PDF–2.5M

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