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Items: 1 to 20 of 22

1.
Novel variants in DNAH9 lead to nonsyndromic severe asthenozoospermia
Dongdong Tang, Yanwei Sha, Yang Gao, Jingjing Zhang, Huiru Cheng, Junqiang Zhang, Xiaoqing Ni, Chao Wang, Chuan Xu, Hao Geng, Xiaojin He, Yunxia Cao
Reprod Biol Endocrinol. 2021; 19: 27. Published online 2021 Feb 20. doi: 10.1186/s12958-021-00709-0
PMCID:
PMC7896388
AbstractArticlePDF–1.3M
2.
Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus
Mahmoud R. Fassad, Amelia Shoemark, Marie Legendre, Robert A. Hirst, France Koll, Pierrick le Borgne, Bruno Louis, Farheen Daudvohra, Mitali P. Patel, Lucie Thomas, Mellisa Dixon, Thomas Burgoyne, Joseph Hayes, Andrew G. Nicholson, Thomas Cullup, Lucy Jenkins, Siobhán B. Carr, Paul Aurora, Michel Lemullois, Anne Aubusson-Fleury, Jean-François Papon, Christopher O’Callaghan, Serge Amselem, Claire Hogg, Estelle Escudier, Anne-Marie Tassin, Hannah M. Mitchison
Am J Hum Genet. 2018 Dec 6; 103(6): 984–994. Published online 2018 Nov 21. doi: 10.1016/j.ajhg.2018.10.016
PMCID:
PMC6288320
AbstractArticlePDF–3.2M
3.
Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects
Niki T. Loges, Dinu Antony, Ales Maver, Matthew A. Deardorff, Elif Yýlmaz Güleç, Alper Gezdirici, Tabea Nöthe-Menchen, Inga M. Höben, Lena Jelten, Diana Frank, Claudius Werner, Johannes Tebbe, Kaman Wu, Elizabeth Goldmuntz, Goran Čuturilo, Bryan Krock, Alyssa Ritter, Rim Hjeij, Zeineb Bakey, Petra Pennekamp, Bernd Dworniczak, Han Brunner, Borut Peterlin, Cansaran Tanidir, Heike Olbrich, Heymut Omran, Miriam Schmidts
Am J Hum Genet. 2018 Dec 6; 103(6): 995–1008. Published online 2018 Nov 21. doi: 10.1016/j.ajhg.2018.10.020
PMCID:
PMC6288205
AbstractArticlePDF–2.9M
4.
Clustering of Genetic Anomalies of Cilia Outer Dynein Arm and Central Apparatus in Patients with Transposition of the Great Arteries
Marlon De Ita, Javier Gaytán-Cervantes, Bulmaro Cisneros, María Antonieta Araujo, Juan Carlos Huicochea-Montiel, Alan Cárdenas-Conejo, Charles César Lazo-Cárdenas, César Iván Ramírez-Portillo, Carina Feria-Kaiser, Leoncio Peregrino-Bejarano, Lucelli Yáñez-Gutiérrez, Carolina González-Torres, Haydeé Rosas-Vargas
Genes (Basel) 2022 Sep; 13(9): 1662. Published online 2022 Sep 16. doi: 10.3390/genes13091662
PMCID:
PMC9498580
AbstractArticlePDF–1.0M
5.
Mislocalization of DNAH5 and DNAH9 in Respiratory Cells from Patients with Primary Ciliary Dyskinesia
Manfred Fliegauf, Heike Olbrich, Judit Horvath, Johannes H. Wildhaber, Maimoona A. Zariwala, Marcus Kennedy, Michael R. Knowles, Heymut Omran
Am J Respir Crit Care Med. 2005 Jun 15; 171(12): 1343–1349. Published online 2005 Mar 4. doi: 10.1164/rccm.200411-1583OC
PMCID:
PMC2718478
AbstractArticlePDF–578K
6.
DNAI2 Mutations Cause Primary Ciliary Dyskinesia with Defects in the Outer Dynein Arm
Niki Tomas Loges, Heike Olbrich, Lale Fenske, Huda Mussaffi, Judit Horvath, Manfred Fliegauf, Heiner Kuhl, Gyorgy Baktai, Erzsebet Peterffy, Rahul Chodhari, Eddie M.K. Chung, Andrew Rutman, Christopher O'Callaghan, Hannah Blau, Laszlo Tiszlavicz, Katarzyna Voelkel, Michal Witt, Ewa Ziętkiewicz, Juergen Neesen, Richard Reinhardt, Hannah M. Mitchison, Heymut Omran
Am J Hum Genet. 2008 Nov 17; 83(5): 547–558. doi: 10.1016/j.ajhg.2008.10.001
PMCID:
PMC2668028
AbstractArticlePDF–861K
7.
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
AbstractArticlePDF–2.5M
8.
ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry
Rim Hjeij, Anna Lindstrand, Richard Francis, Maimoona A. Zariwala, Xiaoqin Liu, You Li, Rama Damerla, Gerard W. Dougherty, Marouan Abouhamed, Heike Olbrich, Niki T. Loges, Petra Pennekamp, Erica E. Davis, Claudia M.B. Carvalho, Davut Pehlivan, Claudius Werner, Johanna Raidt, Gabriele Köhler, Karsten Häffner, Miguel Reyes-Mugica, James R. Lupski, Margaret W. Leigh, Margaret Rosenfeld, Lucy C. Morgan, Michael R. Knowles, Cecilia W. Lo, Nicholas Katsanis, Heymut Omran
Am J Hum Genet. 2013 Aug 8; 93(2): 357–367. doi: 10.1016/j.ajhg.2013.06.009
PMCID:
PMC3738828
AbstractArticlePDF–2.9M
9.
Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia
Marjorie Whitfield, Lucie Thomas, Emilie Bequignon, Alain Schmitt, Laurence Stouvenel, Guy Montantin, Sylvie Tissier, Philippe Duquesnoy, Bruno Copin, Sandra Chantot, Florence Dastot, Catherine Faucon, Anne Laure Barbotin, Anne Loyens, Jean-Pierre Siffroi, Jean-François Papon, Estelle Escudier, Serge Amselem, Valérie Mitchell, Aminata Touré, Marie Legendre
Am J Hum Genet. 2019 Jul 3; 105(1): 198–212. Published online 2019 Jun 6. doi: 10.1016/j.ajhg.2019.04.015
PMCID:
PMC6612517
AbstractArticlePDF–3.2M
10.
Genome-wide SNP Associations with Rubella-Specific Cytokine Responses in Measles-Mumps-Rubella Vaccine Recipients
Richard B. Kennedy, Inna G. Ovsyannikova, Iana H. Haralambieva, Nathaniel D. Lambert, V. Shane Pankratz, Gregory A. Poland
Immunogenetics. Author manuscript; available in PMC 2015 Aug 1.
Published in final edited form as: Immunogenetics. 2014 Aug; 66(0): 493–499. Published online 2014 May 9. doi: 10.1007/s00251-014-0776-3
PMCID:
PMC4096048
AbstractArticlePDF–279K
11.
BRCA2 mediates centrosome cohesion via an interaction with cytoplasmic dynein
Sadiya Malik, Hiroko Saito, Miho Takaoka, Yoshio Miki, Akira Nakanishi
Cell Cycle. 2016; 15(16): 2145–2156. Published online 2016 Jul 19. doi: 10.1080/15384101.2016.1195531
PMCID:
PMC4993541
AbstractArticlePDF–1.6M
12.
Screen identifies bromodomain protein ZMYND8 in chromatin recognition of transcription-associated DNA damage that promotes homologous recombination
Fade Gong, Li-Ya Chiu, Ben Cox, François Aymard, Thomas Clouaire, Justin W. Leung, Michael Cammarata, Mercedes Perez, Poonam Agarwal, Jennifer S. Brodbelt, Gaëlle Legube, Kyle M. Miller
Genes Dev. 2015 Jan 15; 29(2): 197–211. doi: 10.1101/gad.252189.114
PMCID:
PMC4298138
AbstractArticlePDF–2.5M
13.
An improved smaller biotin ligase for BioID proximity labeling
Dae In Kim, Samuel C. Jensen, Kyle A. Noble, Birendra KC, Kenneth H. Roux, Khatereh Motamedchaboki, Kyle J. Roux
Mol Biol Cell. 2016 Apr 15; 27(8): 1188–1196. doi: 10.1091/mbc.E15-12-0844
PMCID:
PMC4831873
AbstractArticlePDF–2.1M
14.
Systematic identification of cancer cell vulnerabilities to natural killer cell-mediated immune surveillance
Matthew F Pech, Linda E Fong, Jacqueline E Villalta, Leanne JG Chan, Samir Kharbanda, Jonathon J O'Brien, Fiona E McAllister, Ari J Firestone, Calvin H Jan, Jeffrey Settleman
eLife. 2019; 8: e47362. Published online 2019 Aug 27. doi: 10.7554/eLife.47362
PMCID:
PMC6713475
AbstractArticlePDF–4.6M
15.
NudCL2 regulates cell migration by stabilizing both myosin-9 and LIS1 with Hsp90
Wenwen Chen, Wei Wang, Xiaoxia Sun, Shanshan Xie, Xiaoyang Xu, Min Liu, Chunxia Yang, Min Li, Wen Zhang, Wei Liu, Liangjing Wang, Tianhua Zhou, Yuehong Yang
Cell Death Dis. 2020 Jul; 11(7): 534. Published online 2020 Jul 14. doi: 10.1038/s41419-020-02739-9
PMCID:
PMC7360774
AbstractArticlePDF–3.3M
16.
Protein interaction landscapes revealed by advanced in vivo cross-linking–mass spectrometry
Andrew Wheat, Clinton Yu, Xiaorong Wang, Anthony M. Burke, Ilan E. Chemmama, Robyn M. Kaake, Peter Baker, Scott D. Rychnovsky, Jing Yang, Lan Huang
Proc Natl Acad Sci U S A. 2021 Aug 10; 118(32): e2023360118. Published online 2021 Aug 4. doi: 10.1073/pnas.2023360118
PMCID:
PMC8364181
AbstractArticlePDF–3.0M
17.
Histone deacetylase inhibitors inhibit cervical cancer growth through Parkin acetylation-mediated mitophagy
Xin Sun, Yuhan Shu, Guiqin Ye, Caixia Wu, Mengting Xu, Ruilan Gao, Dongsheng Huang, Jianbin Zhang
Acta Pharm Sin B. 2022 Feb; 12(2): 838–852. Published online 2021 Jul 21. doi: 10.1016/j.apsb.2021.07.003
PMCID:
PMC8897022
AbstractArticlePDF–3.0M
18.
The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis
Luisa Capalbo, Zuni I. Bassi, Marco Geymonat, Sofia Todesca, Liviu Copoiu, Anton J. Enright, Giuliano Callaini, Maria Giovanna Riparbelli, Lu Yu, Jyoti S. Choudhary, Enrico Ferrero, Sally Wheatley, Max E. Douglas, Masanori Mishima, Pier Paolo D’Avino
Nat Commun. 2019; 10: 4513. Published online 2019 Oct 4. doi: 10.1038/s41467-019-12507-9
PMCID:
PMC6778137
AbstractArticlePDF–7.8M
19.
Personalized Smoking Cessation: Interactions between Nicotine Dose, Dependence and Quit-Success Genotype Score
Jed E Rose, Frédérique M Behm, Tomas Drgon, Catherine Johnson, George R Uhl
Mol Med. 2010 Jul-Aug; 16(7-8): 247–253. Published online 2010 Mar 17. doi: 10.2119/molmed.2009.00159
Correction in:
Mol Med. 2012; 18(1): 729.
PMCID:
PMC2896464
AbstractArticlePDF–2.4M
20.
Panorama of ancient metazoan macromolecular complexes
Cuihong Wan, Blake Borgeson, Sadhna Phanse, Fan Tu, Kevin Drew, Greg Clark, Xuejian Xiong, Olga Kagan, Julian Kwan, Alexandr Berzginov, Kyle Chessman, Swati Pal, Graham Cromar, Ophelia Papoulas, Zuyao Ni, Daniel R. Boutz, Snejana Stoilova, Pierre C. Havugimana, Xinghua Guo, Ramy H. Malty, Mihail Sarov, Jack Greenblatt, Mohan Babu, Brent Derry, Elisabeth Tillier, John B. Wallingford, John Parkinson, Edward M. Marcotte, Andrew Emili
Nature. Author manuscript; available in PMC 2016 Sep 26.
Published in final edited form as: Nature. 2015 Sep 17; 525(7569): 339–344. Published online 2015 Sep 7. doi: 10.1038/nature14877
PMCID:
PMC5036527
AbstractArticlePDF–4.7M

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