PMC Links for Protein (Select 301069351) - PMC

Select item 55316111.

Architecture of the human interactome defines protein communities and disease networks

Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2017 Nov 17.

Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366

PMCID:: PMC5531611

Abstract Article PDF–2.7M

Select item 49793672.

DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes

Gerard W. Dougherty, Niki T. Loges, Judith A. Klinkenbusch, Heike Olbrich, Petra Pennekamp, Tabea Menchen, Johanna Raidt, Julia Wallmeier, Claudius Werner, Cordula Westermann, Christian Ruckert, Virginia Mirra, Rim Hjeij, Yasin Memari, Richard Durbin, Anja Kolb-Kokocinski, Kavita Praveen, Mohammad A. Kashef, Sara Kashef, Fardin Eghtedari, Karsten Häffner, Pekka Valmari, György Baktai, Micha Aviram, Lea Bentur, Israel Amirav, Erica E. Davis, Nicholas Katsanis, Martina Brueckner, Artem Shaposhnykov, Gaia Pigino, Bernd Dworniczak, Heymut Omran

Am J Respir Cell Mol Biol. 2016 Aug; 55(2): 213–224. doi: 10.1165/rcmb.2015-0353OC

PMCID:: PMC4979367

Abstract Article PDF–2.5M

Select item 48691703.

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

Abstract Article PDF–2.0M

Select item 33089954.

Mutations in Radial Spoke Head Genes and Ultrastructural Cilia Defects in East-European Cohort of Primary Ciliary Dyskinesia Patients

Ewa Ziętkiewicz, Zuzanna Bukowy-Bieryłło, Katarzyna Voelkel, Barbara Klimek, Hanna Dmeńska, Andrzej Pogorzelski, Anna Sulikowska-Rowińska, Ewa Rutkiewicz, Michał Witt

PLoS One. 2012; 7(3): e33667. Published online 2012 Mar 20. doi: 10.1371/journal.pone.0033667

PMCID:: PMC3308995

Abstract Article PDF–790K

Select item 28537235.

Founder mutation(s) in the RSPH9 gene leading to primary ciliary dyskinesia in two inbred Bedouin families

Orit Reish, Montgomery Slatkin, Daphne Chapman-Shimshoni, Arnon Elizur, Barry Chioza, Victoria Castleman, Hannah M. Mitchison

Ann Hum Genet. Author manuscript; available in PMC 2011 Mar 1.

Published in final edited form as: Ann Hum Genet. 2010 Mar; 74(2): 117–125. Published online 2010 Jan 8. doi: 10.1111/j.1469-1809.2009.00559.x

PMCID:: PMC2853723

Abstract Article PDF–464K

Select item 26680316.

Mutations in Radial Spoke Head Protein Genes RSPH9 and RSPH4A Cause Primary Ciliary Dyskinesia with Central-Microtubular-Pair Abnormalities

Victoria H. Castleman, Leila Romio, Rahul Chodhari, Robert A. Hirst, Sandra C.P. de Castro, Keith A. Parker, Patricia Ybot-Gonzalez, Richard D. Emes, Stephen W. Wilson, Colin Wallis, Colin A. Johnson, Rene J. Herrera, Andrew Rutman, Mellisa Dixon, Amelia Shoemark, Andrew Bush, Claire Hogg, R. Mark Gardiner, Orit Reish, Nicholas D.E. Greene, Christopher O'Callaghan, Saul Purton, Eddie M.K. Chung, Hannah M. Mitchison

Am J Hum Genet. 2009 Feb 13; 84(2): 197–209. doi: 10.1016/j.ajhg.2009.01.011

PMCID:: PMC2668031

Abstract Article PDF–1.4M

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