PMC Links for Protein (Select 145580586) - PMC

Select item 59867201.

C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia

Mahmoud R. Fassad, Amelia Shoemark, Pierrick le Borgne, France Koll, Mitali Patel, Mellisa Dixon, Jane Hayward, Charlotte Richardson, Emily Frost, Lucy Jenkins, Thomas Cullup, Eddie M.K. Chung, Michel Lemullois, Anne Aubusson-Fleury, Claire Hogg, David R. Mitchell, Anne-Marie Tassin, Hannah M. Mitchison

Am J Hum Genet. 2018 May 3; 102(5): 956–972. Published online 2018 May 3. doi: 10.1016/j.ajhg.2018.03.024

PMCID:: PMC5986720

Abstract Article PDF–3.2M

Select item 52230942.

Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects

Tamara Paff, Niki T. Loges, Isabella Aprea, Kaman Wu, Zeineb Bakey, Eric G. Haarman, Johannes M.A. Daniels, Erik A. Sistermans, Natalija Bogunovic, Gerard W. Dougherty, Inga M. Höben, Jörg Große-Onnebrink, Anja Matter, Heike Olbrich, Claudius Werner, Gerard Pals, Miriam Schmidts, Heymut Omran, Dimitra Micha

Am J Hum Genet. 2017 Jan 5; 100(1): 160–168. Published online 2016 Dec 29. doi: 10.1016/j.ajhg.2016.11.019

PMCID:: PMC5223094

Abstract Article PDF–1.9M

Select item 40004443.

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

Abstract Article PDF–2.1M

Select item 32797464.

Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins

Heymut Omran, Daisuke Kobayashi, Heike Olbrich, Tatsuya Tsukahara, Niki Tomas Loges, Haruo Hagiwara, Qi Zhang, Gerard Leblond, Eileen O’Toole, Chikako Hara, Hideaki Mizuno, Hiroyuki Kawano, Manfred Fliegauf, Toshiki Yagi, Sumito Koshida, Atsushi Miyawaki, Hanswalter Zentgraf, Horst Seithe, Richard Reinhardt, Yoshinori Watanabe, Ritsu Kamiya, David R. Mitchell, Hiroyuki Takeda

Nature. Author manuscript; available in PMC 2012 Feb 15.

Published in final edited form as: Nature. 2008 Dec 4; 456(7222): 611–616. doi: 10.1038/nature07471

PMCID:: PMC3279746

Abstract Article PDF–1.4M

Select item 32296415.

Image-Based Genome-Wide siRNA Screen Identifies Selective Autophagy Factors

Anthony Orvedahl, Rhea Sumpter, Jr., Guanghua Xiao, Aylwin Ng, Zhongju Zou, Yi Tang, Masahiro Narimatsu, Christopher Gilpin, Qihua Sun, Michael Roth, Christian V. Forst, Jeffrey L. Wrana, Ying E. Zhang, Katherine Luby-Phelps, Ramnik Xavier, Yang Xie, Beth Levine

Nature. Author manuscript; available in PMC 2012 Jun 1.

Published in final edited form as: Nature. 2011 Dec 1; 480(7375): 113–117. doi: 10.1038/nature10546

PMCID:: PMC3229641

Abstract Article PDF–2.3M

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