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Select item 109176601.

Genetic determinants of micronucleus formation in vivo

D. J. Adams, B. Barlas, R. E. McIntyre, I. Salguero, L. van der Weyden, A. Barros, J. R. Vicente, N. Karimpour, A. Haider, M. Ranzani, G. Turner, N. A. Thompson, V. Harle, R. Olvera-León, C. D. Robles-Espinoza, A. O. Speak, N. Geisler, W. J. Weninger, S. H. Geyer, J. Hewinson, N. A. Karp, The Sanger Mouse Genetics Project, B. Fu, F. Yang, Z. Kozik, J. Choudhary, L. Yu, M. S. van Ruiten, B. D. Rowland, C. J. Lelliott, M. del Castillo Velasco-Herrera, R. Verstraten, L. Bruckner, A. G. Henssen, M. A. Rooimans, J. de Lange, T. J. Mohun, M. J. Arends, K. A. Kentistou, P. A. Coelho, Y. Zhao, H. Zecchini, J. R. B. Perry, S. P. Jackson, G. Balmus

Nature. 2024; 627(8002): 130–136. Published online 2024 Feb 14. doi: 10.1038/s41586-023-07009-0

PMCID:: PMC10917660

Abstract Article PDF–4.8M

Select item 93560822.

Prominin 1 and Notch regulate ciliary length and dynamics in multiciliated cells of the airway epithelium

Carlos F.H. Serra, Helu Liu, Jun Qian, Munemasa Mori, Jining Lu, Wellington V. Cardoso

iScience. 2022 Aug 19; 25(8): 104751. Published online 2022 Jul 14. doi: 10.1016/j.isci.2022.104751

PMCID:: PMC9356082

Abstract Article PDF–3.9M

Select item 79387703.

BraInMap elucidates the macromolecular connectivity landscape of mammalian brain

Reza Pourhaghighi, Peter E. A. Ash, Sadhna Phanse, Florian Goebels, Lucas Z. M. Hu, Siwei Chen, Yingying Zhang, Shayne D. Wierbowski, Samantha Boudeau, Mohamed T. Moutaoufik, Ramy H. Malty, Edyta Malolepsza, Kalliopi Tsafou, Aparna Nathan, Graham Cromar, Hongbo Guo, Ali Al Abdullatif, Daniel J. Apicco, Lindsay A. Becker, Aaron D. Gitler, Stefan M. Pulst, Ahmed Youssef, Ryan Hekman, Pierre C. Havugimana, Carl A. White, Benjamin C. Blum, Antonia Ratti, Camron D. Bryant, John Parkinson, Kasper Lage, Mohan Babu, Haiyuan Yu, Gary D. Bader, Benjamin Wolozin, Andrew Emili

Cell Syst. Author manuscript; available in PMC 2021 Apr 22.

Published in final edited form as: Cell Syst. 2020 Apr 22; 10(4): 333–350.e14. doi: 10.1016/j.cels.2020.03.003

Correction in:: Cell Syst. 2020 Aug 26; 11(2): 208.

PMCID:: PMC7938770

Abstract Article PDF–2.0M

Select item 78170144.

CFAP53 regulates mammalian cilia-type motility patterns through differential localization and recruitment of axonemal dynein components

Takahiro Ide, Wang Kyaw Twan, Hao Lu, Yayoi Ikawa, Lin-Xenia Lim, Nicole Henninger, Hiromi Nishimura, Katsuyoshi Takaoka, Vijay Narasimhan, Xiumin Yan, Hidetaka Shiratori, Sudipto Roy, Hiroshi Hamada

PLoS Genet. 2020 Dec; 16(12): e1009232. Published online 2020 Dec 21. doi: 10.1371/journal.pgen.1009232

PMCID:: PMC7817014

Abstract Article PDF–4.1M

Select item 60449065.

ZMYND10 functions in a chaperone relay during axonemal dynein assembly

Girish R Mali, Patricia L Yeyati, Seiya Mizuno, Daniel O Dodd, Peter A Tennant, Margaret A Keighren, Petra zur Lage, Amelia Shoemark, Amaya Garcia-Munoz, Atsuko Shimada, Hiroyuki Takeda, Frank Edlich, Satoru Takahashi, Alex von Kreigsheim, Andrew P Jarman, Pleasantine Mill

eLife. 2018; 7: e34389. Published online 2018 Jun 19. doi: 10.7554/eLife.34389

PMCID:: PMC6044906

Abstract Article PDF–6.9M

Select item 59720746.

Ift25 Is Not a Cystic Kidney Disease Gene but Is Required for Early Steps of Kidney Development

Paurav B. Desai, Jovenal T. San Agustin, Michael W. Stuck, Julie A. Jonassen, Carlton M. Bates, Gregory J. Pazour

Mech Dev. Author manuscript; available in PMC 2019 Jun 1.

Published in final edited form as: Mech Dev. 2018 Jun; 151: 10–17. Published online 2018 Apr 4. doi: 10.1016/j.mod.2018.04.001

PMCID:: PMC5972074

Abstract Article PDF–1.8M

Select item 53339607.

Assessment of ciliary phenotype in primary ciliary dyskinesia by micro-optical coherence tomography

George M. Solomon, Richard Francis, Kengyeh K. Chu, Susan E. Birket, George Gabriel, John E. Trombley, Kristi L. Lemke, Nikolai Klena, Brett Turner, Guillermo J. Tearney, Cecilia W. Lo, Steven M. Rowe

JCI Insight. 2017 Mar 9; 2(5): e91702. Published online 2017 Mar 9. doi: 10.1172/jci.insight.91702

PMCID:: PMC5333960

Abstract Article PDF–922K

Select item 51815968.

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 47692709.

DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia

You Li, Hisato Yagi, Ezenwa Obi Onuoha, Rama Rao Damerla, Richard Francis, Yoshiyuki Furutani, Muhammad Tariq, Stephen M. King, Gregory Hendricks, Cheng Cui, Manush Saydmohammed, Dong Min Lee, Maliha Zahid, Iman Sami, Linda Leatherbury, Gregory J. Pazour, Stephanie M. Ware, Toshio Nakanishi, Elizabeth Goldmuntz, Michael Tsang, Cecilia W. Lo

PLoS Genet. 2016 Feb; 12(2): e1005821. Published online 2016 Feb 26. doi: 10.1371/journal.pgen.1005821

PMCID:: PMC4769270

Abstract Article PDF–1.0M

Select item 461754010.

Global genetic analysis in mice unveils central role for cilia in congenital heart disease

You Li, Nikolai T. Klena, George C Gabriel, Xiaoqin Liu, Andrew J. Kim, Kristi Lemke, Yu Chen, Bishwanath Chatterjee, William Devine, Rama Rao Damerla, Chien-fu Chang, Hisato Yagi, Jovenal T. San Agustin, Mohamed Thahir, Shane Anderton, Caroline Lawhead, Anita Vescovi, Herbert Pratt, Judy Morgan, Leslie Haynes, Cynthia L. Smith, Janan T. Eppig, Laura Reinholdt, Richard Francis, Linda Leatherbury, Madhavi K. Ganapathiraju, Kimimasa Tobita, Gregory J. Pazour, Cecilia W. Lo

Nature. Author manuscript; available in PMC 2015 Nov 28.

Published in final edited form as: Nature. 2015 May 28; 521(7553): 520–524. Published online 2015 Mar 25. doi: 10.1038/nature14269

PMCID:: PMC4617540

Abstract Article PDF–518K

Select item 440665311.

Cyclin O (Ccno) functions during deuterosome-mediated centriole amplification of multiciliated cells

Maja C Funk, Agata N Bera, Tabea Menchen, Georg Kuales, Kerstin Thriene, Soeren S Lienkamp, Jörn Dengjel, Heymut Omran, Marcus Frank, Sebastian J Arnold

EMBO J. 2015 Apr 15; 34(8): 1078–1089. Published online 2015 Feb 23. doi: 10.15252/embj.201490805

PMCID:: PMC4406653

Abstract Article PDF–2.2M

Select item 440555512.

Gene Expression by Mouse Inner Ear Hair Cells during Development

Déborah I. Scheffer, Jun Shen, David P. Corey, Zheng-Yi Chen

J Neurosci. 2015 Apr 22; 35(16): 6366–6380. doi: 10.1523/JNEUROSCI.5126-14.2015

PMCID:: PMC4405555

Abstract Article PDF–4.2M

Select item 415714613.

CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation

Rim Hjeij, Alexandros Onoufriadis, Christopher M. Watson, Christopher E. Slagle, Nikolai T. Klena, Gerard W. Dougherty, Małgorzata Kurkowiak, Niki T. Loges, Christine P. Diggle, Nicholas F.C. Morante, George C. Gabriel, Kristi L. Lemke, You Li, Petra Pennekamp, Tabea Menchen, Franziska Konert, June Kehlet Marthin, Dorus A. Mans, Stef J.F. Letteboer, Claudius Werner, Thomas Burgoyne, Cordula Westermann, Andrew Rutman, Ian M. Carr, Christopher O’Callaghan, Eduardo Moya, Eddie M.K. Chung, UK10K Consortium, Eamonn Sheridan, Kim G. Nielsen, Ronald Roepman, Kerstin Bartscherer, Rebecca D. Burdine, Cecilia W. Lo, Heymut Omran, Hannah M. Mitchison

Am J Hum Genet. 2014 Sep 4; 95(3): 257–274. doi: 10.1016/j.ajhg.2014.08.005

PMCID:: PMC4157146

Abstract Article PDF–3.2M

Select item 400044414.

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 396495515.

The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data

Gautier Koscielny, Gagarine Yaikhom, Vivek Iyer, Terrence F. Meehan, Hugh Morgan, Julian Atienza-Herrero, Andrew Blake, Chao-Kung Chen, Richard Easty, Armida Di Fenza, Tanja Fiegel, Mark Grifiths, Alan Horne, Natasha A. Karp, Natalja Kurbatova, Jeremy C. Mason, Peter Matthews, Darren J. Oakley, Asfand Qazi, Jack Regnart, Ahmad Retha, Luis A. Santos, Duncan J. Sneddon, Jonathan Warren, Henrik Westerberg, Robert J. Wilson, David G. Melvin, Damian Smedley, Steve D. M. Brown, Paul Flicek, William C. Skarnes, Ann-Marie Mallon, Helen Parkinson

Nucleic Acids Res. 2014 Jan 1; 42(Database issue): D802–D809. Published online 2013 Nov 3. doi: 10.1093/nar/gkt977

PMCID:: PMC3964955

Abstract Article PDF–5.7M

Select item 373882816.

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

Abstract Article PDF–2.9M

Select item 357241017.

A conditional knockout resource for the genome–wide study of mouse gene function

William C. Skarnes, Barry Rosen, Anthony P. West, Manousos Koutsourakis, Wendy Bushell, Vivek Iyer, Alejandro O. Mujica, Mark Thomas, Jennifer Harrow, Tony Cox, David Jackson, Jessica Severin, Patrick Biggs, Jun Fu, Michael Nefedov, Pieter J. de Jong, A. Francis Stewart, Allan Bradley

Nature. Author manuscript; available in PMC 2013 Feb 14.

Published in final edited form as: Nature. 2011 Jun 15; 474(7351): 337–342. Published online 2011 Jun 15. doi: 10.1038/nature10163

PMCID:: PMC3572410

Abstract Article PDF–1.1M

Select item 317805918.

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 302253419.

A High-Resolution Anatomical Atlas of the Transcriptome in the Mouse Embryo

Graciana Diez-Roux, Sandro Banfi, Marc Sultan, Lars Geffers, Santosh Anand, David Rozado, Alon Magen, Elena Canidio, Massimiliano Pagani, Ivana Peluso, Nathalie Lin-Marq, Muriel Koch, Marchesa Bilio, Immacolata Cantiello, Roberta Verde, Cristian De Masi, Salvatore A. Bianchi, Juliette Cicchini, Elodie Perroud, Shprese Mehmeti, Emilie Dagand, Sabine Schrinner, Asja Nürnberger, Katja Schmidt, Katja Metz, Christina Zwingmann, Norbert Brieske, Cindy Springer, Ana Martinez Hernandez, Sarah Herzog, Frauke Grabbe, Cornelia Sieverding, Barbara Fischer, Kathrin Schrader, Maren Brockmeyer, Sarah Dettmer, Christin Helbig, Violaine Alunni, Marie-Annick Battaini, Carole Mura, Charlotte N. Henrichsen, Raquel Garcia-Lopez, Diego Echevarria, Eduardo Puelles, Elena Garcia-Calero, Stefan Kruse, Markus Uhr, Christine Kauck, Guangjie Feng, Nestor Milyaev, Chuang Kee Ong, Lalit Kumar, MeiSze Lam, Colin A. Semple, Attila Gyenesei, Stefan Mundlos, Uwe Radelof, Hans Lehrach, Paolo Sarmientos, Alexandre Reymond, Duncan R. Davidson, Pascal Dollé, Stylianos E. Antonarakis, Marie-Laure Yaspo, Salvador Martinez, Richard A. Baldock, Gregor Eichele, Andrea Ballabio

PLoS Biol. 2011 Jan; 9(1): e1000582. Published online 2011 Jan 18. doi: 10.1371/journal.pbio.1000582