PMC Links for GEO Profiles (Select 48865369) - PMC

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 42266345.

Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease

Miriam Schmidts, Valeska Frank, Tobias Eisenberger, Saeed al Turki, Albane A. Bizet, Dinu Antony, Suzanne Rix, Christian Decker, Nadine Bachmann, Martin Bald, Tobias Vinke, Burkhard Toenshoff, Natalia Di Donato, Theresa Neuhann, Jane L. Hartley, Eamonn R. Maher, Radovan Bogdanović, Amira Peco-Antić, Christoph Mache, Matthew E. Hurles, Ivana Joksić, Marija Guć-Šćekić, Jelena Dobricic, Mirjana Brankovic-Magic, UK10K, Hanno J. Bolz, Gregory J. Pazour, Philip L. Beales, Peter J. Scambler, Sophie Saunier, Hannah M. Mitchison, Carsten Bergmann

Hum Mutat. Author manuscript; available in PMC 2014 Nov 10.

Published in final edited form as: Hum Mutat. 2013 May; 34(5): 714–724. doi: 10.1002/humu.22294

PMCID:: PMC4226634

Abstract Article PDF–1.8M

Select item 41730736.

Distinct functions for IFT140 and IFT20 in opsin transport.

Jacquelin A. Crouse, Vanda S. Lopes, Jovenal T. SanAgustin, Brian T. Keady, David S. Williams, Gregory J. Pazour

Cytoskeleton (Hoboken) Author manuscript; available in PMC 2015 May 1.

Published in final edited form as: Cytoskeleton (Hoboken). 2014 May; 71(5): 302–310. Published online 2014 Mar 25. doi: 10.1002/cm.21173

PMCID:: PMC4173073

Abstract Article PDF–834K

Select item 37952507.

Centrosomal Protein DZIP1 Regulates Hedgehog Signaling by Promoting Cytoplasmic Retention of Transcription Factor GLI3 and Affecting Ciliogenesis

Chengbing Wang, Wee-Chuang Low, Aimin Liu, Baolin Wang

J Biol Chem. 2013 Oct 11; 288(41): 29518–29529. Published online 2013 Aug 16. doi: 10.1074/jbc.M113.492066

PMCID:: PMC3795250

Abstract Article PDF–2.8M

Select item 37570638.

Cauli: A Mouse Strain with an Ift140 Mutation That Results in a Skeletal Ciliopathy Modelling Jeune Syndrome

Kerry A. Miller, Casey J. Ah-Cann, Megan F. Welfare, Tiong Y. Tan, Kate Pope, Georgina Caruana, Mary-Louise Freckmann, Ravi Savarirayan, John F. Bertram, Michael S. Dobbie, John F. Bateman, Peter G. Farlie

PLoS Genet. 2013 Aug; 9(8): e1003746. Published online 2013 Aug 29. doi: 10.1371/journal.pgen.1003746

PMCID:: PMC3757063

Abstract Article PDF–18M

Select item 35858499.

Genome-Wide ENU Mutagenesis in Combination with High Density SNP Analysis and Exome Sequencing Provides Rapid Identification of Novel Mouse Models of Developmental Disease

Georgina Caruana, Peter G. Farlie, Adam H. Hart, Stefan Bagheri-Fam, Megan J. Wallace, Michael S. Dobbie, Christopher T. Gordon, Kerry A. Miller, Belinda Whittle, Helen E. Abud, Ruth M. Arkell, Timothy J. Cole, Vincent R. Harley, Ian M. Smyth, John F. Bertram

PLoS One. 2013; 8(3): e55429. Published online 2013 Mar 1. doi: 10.1371/journal.pone.0055429

PMCID:: PMC3585849

Abstract Article PDF–4.7M

Select item 337654810.

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

Isabelle Perrault, Sophie Saunier, Sylvain Hanein, Emilie Filhol, Albane A. Bizet, Felicity Collins, Mustafa A.M. Salih, Sylvie Gerber, Nathalie Delphin, Karine Bigot, Christophe Orssaud, Eduardo Silva, Véronique Baudouin, Machteld M. Oud, Nora Shannon, Martine Le Merrer, Olivier Roche, Christine Pietrement, Jamal Goumid, Clarisse Baumann, Christine Bole-Feysot, Patrick Nitschke, Mohammed Zahrate, Philip Beales, Heleen H. Arts, Arnold Munnich, Josseline Kaplan, Corinne Antignac, Valérie Cormier-Daire, Jean-Michel Rozet

Am J Hum Genet. 2012 May 4; 90(5): 864–870. doi: 10.1016/j.ajhg.2012.03.006