PMC Links for GEO Profiles (Select 35829039) - PMC

Select item 51815961.

Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms

Ozanna Burnicka-Turek, Jeffrey D. Steimle, Wenhui Huang, Lindsay Felker, Anna Kamp, Junghun Kweon, Michael Peterson, Roger H. Reeves, Cheryl L. Maslen, Peter J. Gruber, Xinan H. Yang, Jay Shendure, Ivan P. Moskowitz

Hum Mol Genet. 2016 Jul 15; 25(14): 3011–3028. Published online 2016 Jun 23. doi: 10.1093/hmg/ddw155

PMCID:: PMC5181596

Abstract Article PDF–1.1M

Select item 38410972.

Wdpcp, a PCP Protein Required for Ciliogenesis, Regulates Directional Cell Migration and Cell Polarity by Direct Modulation of the Actin Cytoskeleton

Cheng Cui, Bishwanath Chatterjee, Thomas P. Lozito, Zhen Zhang, Richard J. Francis, Hisato Yagi, Lisa M. Swanhart, Subramaniam Sanker, Deanne Francis, Qing Yu, Jovenal T. San Agustin, Chandrakala Puligilla, Tania Chatterjee, Terry Tansey, Xiaoqin Liu, Matthew W. Kelley, Elias T. Spiliotis, Adam V. Kwiatkowski, Rocky Tuan, Gregory J. Pazour, Neil A. Hukriede, Cecilia W. Lo

PLoS Biol. 2013 Nov; 11(11): e1001720. Published online 2013 Nov 26. doi: 10.1371/journal.pbio.1001720

PMCID:: PMC3841097

Abstract Article PDF–7.4M

Select item 35797353.

Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies

Katarzyna Szymanska, Ian Berry, Clare V Logan, Simon RR Cousins, Helen Lindsay, Hussain Jafri, Yasmin Raashid, Saghira Malik-Sharif, Bruce Castle, Mushtag Ahmed, Chris Bennett, Ruth Carlton, Colin A Johnson

Cilia. 2012; 1: 18. Published online 2012 Oct 1. doi: 10.1186/2046-2530-1-18

PMCID:: PMC3579735

Abstract Article PDF–263K

Select item 33830654.

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 31780595.

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 31450116.

A Transition Zone Complex Regulates Mammalian Ciliogenesis and Ciliary Membrane Composition

Francesc R. Garcia-Gonzalo, Kevin C. Corbit, María Salomé Sirerol-Piquer, Gokul Ramaswami, Edgar A. Otto, Thomas R. Noriega, Allen D. Seol, Jon F. Robinson, Christopher L. Bennett, Dragana J. Josifova, José Manuel García-Verdugo, Nicholas Katsanis, Friedhelm Hildebrandt, Jeremy F. Reiter

Nat Genet. Author manuscript; available in PMC 2012 Feb 1.

Published in final edited form as: Nat Genet. 2011 Aug; 43(8): 776–784. Published online 2011 Jul 3. doi: 10.1038/ng.891

PMCID:: PMC3145011

Abstract Article PDF–2.3M

Select item 30089637.

Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome

Cheng Cui, Bishwanath Chatterjee, Deanne Francis, Qing Yu, Jovenal T. SanAgustin, Richard Francis, Terry Tansey, Charisse Henry, Baolin Wang, Bethan Lemley, Gregory J. Pazour, Cecilia W. Lo

Dis Model Mech. 2011 Jan; 4(1): 43–56. Published online 2010 Nov 2. doi: 10.1242/dmm.006262

PMCID:: PMC3008963

Abstract Article

Select item 27732718.

A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling

Scott D. Weatherbee, Lee A. Niswander, Kathryn V. Anderson

Hum Mol Genet. 2009 Dec 1; 18(23): 4565–4575. Published online 2009 Sep 22. doi: 10.1093/hmg/ddp422

PMCID:: PMC2773271

Abstract Article PDF–744K

Select item 27338219.

Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3

Rachaneekorn Tammachote, Cynthia J. Hommerding, Rachel M. Sinders, Caroline A. Miller, Peter G. Czarnecki, Amanda C. Leightner, Jeffrey L. Salisbury, Christopher J. Ward, Vicente E. Torres, Vincent H. Gattone, II, Peter C. Harris

Hum Mol Genet. 2009 Sep 1; 18(17): 3311–3323. Published online 2009 Jun 10. doi: 10.1093/hmg/ddp272

PMCID:: PMC2733821

Abstract Article PDF–757K

Select item 272091810.

Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins

Nathan J. Bialas, Peter N. Inglis, Chunmei Li, Jon F. Robinson, Jeremy D. K. Parker, Michael P. Healey, Erica E. Davis, Chrystal D. Inglis, Tiina Toivonen, David C. Cottell, Oliver E. Blacque, Lynne M. Quarmby, Nicholas Katsanis, Michel R. Leroux

J Cell Sci. 2009 Mar 1; 122(5): 611–624. Published online 2009 Feb 10. doi: 10.1242/jcs.028621

PMCID:: PMC2720918

Abstract Article

Select item 52892811.

The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)

Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504

Correction in:: Genome Res. 2006 Jun; 16(6): 804.

PMCID:: PMC528928

Abstract Article PDF–140K

Select item 13924112.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

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