PMC Links for Gene (Select 123872) - PMC

Select item 51874241.

Rare disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility

Kevin Litchfield, Max Levy, Darshna Dudakia, Paula Proszek, Claire Shipley, Sander Basten, Elizabeth Rapley, D. Timothy Bishop, Alison Reid, Robert Huddart, Peter Broderick, David Gonzalez de Castro, Simon O'Connor, Rachel H. Giles, Richard S. Houlston, Clare Turnbull

Nat Commun. 2016; 7: 13840. Published online 2016 Dec 20. doi: 10.1038/ncomms13840

PMCID:: PMC5187424

Article PDF–686K

Select item 50689502.

Mutations in the Motile Cilia Gene DNAAF1 Are Associated with Neural Tube Defects in Humans

Chunyue Miao, Qian Jiang, Huili Li, Qin Zhang, Baoling Bai, Yihua Bao, Ting Zhang

G3 (Bethesda) 2016 Oct; 6(10): 3307–3316. Published online 2016 Aug 18. doi: 10.1534/g3.116.033696

PMCID:: PMC5068950

Article PDF–1.4M

Select item 27905693.

Loss-of-Function Mutations in the Human Ortholog of Chlamydomonas reinhardtii ODA7 Disrupt Dynein Arm Assembly and Cause Primary Ciliary Dyskinesia

Philippe Duquesnoy, Estelle Escudier, Laetitia Vincensini, Judy Freshour, Anne-Marie Bridoux, André Coste, Antoine Deschildre, Jacques de Blic, Marie Legendre, Guy Montantin, Henrique Tenreiro, Anne-Marie Vojtek, Céline Loussert, Annick Clément, Denise Escalier, Philippe Bastin, David R. Mitchell, Serge Amselem

Am J Hum Genet. 2009 Dec 11; 85(6): 890–896. doi: 10.1016/j.ajhg.2009.11.008

PMCID:: PMC2790569

Article PDF–816K

Select item 58862964.

DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport

Verity L Hartill, Glenn van de Hoek, Mitali P Patel, Rosie Little, Christopher M Watson, Ian R Berry, Amelia Shoemark, Dina Abdelmottaleb, Emma Parkes, Chiara Bacchelli, Katarzyna Szymanska, Nine V Knoers, Peter J Scambler, Marius Ueffing, Karsten Boldt, Robert Yates, Paul J Winyard, Beryl Adler, Eduardo Moya, Louise Hattingh, Anil Shenoy, Claire Hogg, Eamonn Sheridan, Ronald Roepman, Dominic Norris, Hannah M Mitchison, Rachel H Giles, Colin A Johnson

Hum Mol Genet. 2018 Feb 1; 27(3): 529–545. Published online 2017 Dec 7. doi: 10.1093/hmg/ddx422

PMCID:: PMC5886296

Article PDF–1.3M

Select item 27958015.

Deletions and Point Mutations of LRRC50 Cause Primary Ciliary Dyskinesia Due to Dynein Arm Defects

Niki Tomas Loges, Heike Olbrich, Anita Becker-Heck, Karsten Häffner, Angelina Heer, Christina Reinhard, Miriam Schmidts, Andreas Kispert, Maimoona A. Zariwala, Margaret W. Leigh, Michael R. Knowles, Hanswalter Zentgraf, Horst Seithe, Gudrun Nürnberg, Peter Nürnberg, Richard Reinhardt, Heymut Omran

Am J Hum Genet. 2009 Dec 11; 85(6): 883–889. doi: 10.1016/j.ajhg.2009.10.018

PMCID:: PMC2795801

Article PDF–894K

Select item 23969346.

LRRC50, a Conserved Ciliary Protein Implicated in Polycystic Kidney Disease

Ellen van Rooijen, Rachel H. Giles, Emile E. Voest, Carina van Rooijen, Stefan Schulte-Merker, Freek J. van Eeden

J Am Soc Nephrol. 2008 Jun; 19(6): 1128–1138. doi: 10.1681/ASN.2007080917

PMCID:: PMC2396934

Article

Select item 40004447.

DYX1C1 is required for axonemal dynein assembly and ciliary motility

Aarti Tarkar, Niki T. Loges, Christopher E. Slagle, Richard Francis, Gerard W. Dougherty, Joel V. Tamayo, Brett Shook, Marie Cantino, Daniel Schwartz, Charlotte Jahnke, Heike Olbrich, Claudius Werner, Johanna Raidt, Petra Pennekamp, Marouan Abouhamed, Rim Hjeij, Gabriele Köhler, Matthias Griese, You Li, Kristi Lemke, Nikolas Klena, Xiaoqin Liu, George Gabriel, Kimimasa Tobita, Martine Jaspers, Lucy C. Morgan, Adam J. Shapiro, Stef J.F. Letteboer, Dorus A. Mans, Johnny L. Carson, Margaret W. Leigh, Whitney E. Wolf, Serafine Chen, Jane S. Lucas, Alexandros Onoufriadis, Vincent Plagnol, Miriam Schmidts, Karsten Boldt, UK10K, Ronald Roepman, Maimoona Zariwala, Cecilia W. Lo, Hannah M. Mitchison, Michael R. Knowles, Rebecca D. Burdine, Joseph J. LoTurco, Heymut Omran

Nat Genet. Author manuscript; available in PMC 2014 Apr 26.

Published in final edited form as: Nat Genet. 2013 Sep; 45(9): 995–1003. Published online 2013 Jul 21. doi: 10.1038/ng.2707

PMCID:: PMC4000444

Article PDF–2.1M

Select item 62982548.

A protein-protein interaction map of the TNF-induced NF-κB signal transduction pathway

Emmy Van Quickelberghe, Delphine De Sutter, Geert van Loo, Sven Eyckerman, Kris Gevaert

Sci Data. 2018; 5: 180289. Published online 2018 Dec 18. doi: 10.1038/sdata.2018.289

PMCID:: PMC6298254

Article PDF–1.4M

Select item 66009159.

TNF-α inhibits glucocorticoid receptor-induced gene expression by reshaping the GR nuclear cofactor profile

Karen Dendoncker, Steven Timmermans, Jolien Vandewalle, Melanie Eggermont, Joanna Lempiäinen, Evelien Van Hamme, Sylviane Dewaele, Sofie Vandevyver, Marlies Ballegeer, Jolien Souffriau, Lise Van Wyngene, Kelly Van Looveren, Tineke Vanderhaeghen, Rudi Beyaert, Karolien De Bosscher, Jorma J. Palvimo, Marc Van Montagu, Claude Libert

Proc Natl Acad Sci U S A. 2019 Jun 25; 116(26): 12942–12951. Published online 2019 Jun 10. doi: 10.1073/pnas.1821565116

Correction in:: Proc Natl Acad Sci U S A. 2019 Jul 30; 116(31): 15745.

PMCID:: PMC6600915

Article PDF–1.7M

Select item 607772210.

Estrogen-regulated feedback loop limits the efficacy of estrogen receptor–targeted breast cancer therapy

Tengfei Xiao, Wei Li, Xiaoqing Wang, Han Xu, Jixin Yang, Qiu Wu, Ying Huang, Joseph Geradts, Peng Jiang, Teng Fei, David Chi, Chongzhi Zang, Qi Liao, Jonathan Rennhack, Eran Andrechek, Nanlin Li, Simone Detre, Mitchell Dowsett, Rinath M. Jeselsohn, X. Shirley Liu, Myles Brown

Proc Natl Acad Sci U S A. 2018 Jul 31; 115(31): 7869–7878. Published online 2018 Jul 9. doi: 10.1073/pnas.1722617115

PMCID:: PMC6077722

Article PDF–2.4M

Select item 486917011.

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T. Nguyen, Yves Texier, Sylvia E. C. van Beersum, Nicola Horn, Jason R. Willer, Dorus A. Mans, Gerard Dougherty, Ideke J. C. Lamers, Karlien L. M. Coene, Heleen H. Arts, Matthew J. Betts, Tina Beyer, Emine Bolat, Christian Johannes Gloeckner, Khatera Haidari, Lisette Hetterschijt, Daniela Iaconis, Dagan Jenkins, Franziska Klose, Barbara Knapp, Brooke Latour, Stef J. F. Letteboer, Carlo L. Marcelis, Dragana Mitic, Manuela Morleo, Machteld M. Oud, Moniek Riemersma, Susan Rix, Paulien A. Terhal, Grischa Toedt, Teunis J. P. van Dam, Erik de Vrieze, Yasmin Wissinger, Ka Man Wu, Gordana Apic, Philip L. Beales, Oliver E. Blacque, Toby J. Gibson, Martijn A. Huynen, Nicholas Katsanis, Hannie Kremer, Heymut Omran, Erwin van Wijk, Uwe Wolfrum, François Kepes, Erica E. Davis, Brunella Franco, Rachel H. Giles, Marius Ueffing, Robert B. Russell, Ronald Roepman, UK10K Rare Diseases Group

Nat Commun. 2016; 7: 11491. Published online 2016 May 13. doi: 10.1038/ncomms11491

PMCID:: PMC4869170

Article PDF–2.0M

Select item 135612912.

Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes

Kouichi Kimura, Ai Wakamatsu, Yutaka Suzuki, Toshio Ota, Tetsuo Nishikawa, Riu Yamashita, Jun-ichi Yamamoto, Mitsuo Sekine, Katsuki Tsuritani, Hiroyuki Wakaguri, Shizuko Ishii, Tomoyasu Sugiyama, Kaoru Saito, Yuko Isono, Ryotaro Irie, Norihiro Kushida, Takahiro Yoneyama, Rie Otsuka, Katsuhiro Kanda, Takahide Yokoi, Hiroshi Kondo, Masako Wagatsuma, Katsuji Murakawa, Shinichi Ishida, Tadashi Ishibashi, Asako Takahashi-Fujii, Tomoo Tanase, Keiichi Nagai, Hisashi Kikuchi, Kenta Nakai, Takao Isogai, Sumio Sugano

Genome Res. 2006 Jan; 16(1): 55–65. doi: 10.1101/gr.4039406