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Items: 11

1.
Impaired neural differentiation and glymphatic CSF flow in the Ccdc39 rat model of neonatal hydrocephalus: genetic interaction with L1cam
A. Scott Emmert, Eri Iwasawa, Crystal Shula, Preston Schultz, Diana Lindquist, R. Scott Dunn, Elizabeth M. Fugate, Yueh-Chiang Hu, Francesco T. Mangano, June Goto
Dis Model Mech. 2019 Nov 1; 12(11): dmm040972. Published online 2019 Nov 21. doi: 10.1242/dmm.040972
PMCID:
PMC6898999
AbstractArticle
2.
A mutation in Ccdc39 causes neonatal hydrocephalus with abnormal motile cilia development in mice
Zakia Abdelhamed, Shawn M. Vuong, Lauren Hill, Crystal Shula, Andrew Timms, David Beier, Kenneth Campbell, Francesco T. Mangano, Rolf W. Stottmann, June Goto
Development. 2018 Jan 1; 145(1): dev154500. doi: 10.1242/dev.154500
PMCID:
PMC5825874
AbstractArticle
3.
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
AbstractArticlePDF–922K
4.
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
AbstractArticlePDF–518K
5.
Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex
Heike Olbrich, Carolin Cremers, Niki T. Loges, Claudius Werner, Kim G. Nielsen, June K. Marthin, Maria Philipsen, Julia Wallmeier, Petra Pennekamp, Tabea Menchen, Christine Edelbusch, Gerard W. Dougherty, Oliver Schwartz, Holger Thiele, Janine Altmüller, Frank Rommelmann, Heymut Omran
Am J Hum Genet. 2015 Oct 1; 97(4): 546–554. Published online 2015 Sep 17. doi: 10.1016/j.ajhg.2015.08.012
PMCID:
PMC4596893
AbstractArticlePDF–1.4M
6.
High Prevalence of Respiratory Ciliary Dysfunction in Congenital Heart Disease Patients With Heterotaxy
Nader Nakhleh, Richard Francis, Rachel A. Giese, Xin Tian, You Li, Maimoona A. Zariwala, Hisato Yagi, Omar Khalifa, Safina Kureshi, Bishwanath Chatterjee, Steven L. Sabol, Matthew Swisher, Patricia S. Connelly, Mathew P. Daniels, Ashok Srinivasan, Karen Kuehl, Nadav Kravitz, Kimberlie Burns, Iman Sami, Heymut Omran, Michael Barmada, Kenneth Olivier, Kunal K. Chawla, Margaret Leigh, Richard Jonas, Michael Knowles, Linda Leatherbury, Cecilia W. Lo
Circulation. Author manuscript; available in PMC 2013 Sep 11.
Published in final edited form as: Circulation. 2012 May 8; 125(18): 2232–2242. Published online 2012 Apr 12. doi: 10.1161/CIRCULATIONAHA.111.079780
PMCID:
PMC3770728
AbstractArticlePDF–1.0M
7.
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganisation and absent inner dynein arms
Dinu Antony, Anita Becker-Heck, Maimoona A Zariwala, Miriam Schmidts, Alexandros Onoufriadis, Mitra Forouhan, Robert Wilson, Theresa Taylor-Cox, Ann Dewar, Claire Jackson, Patricia Goggin, Niki T Loges, Heike Olbrich, Martine Jaspers, Mark Jorissen, Margaret W Leigh, Whitney E Wolf, M. Leigh Anne Daniels, Peader G Noone, Thomas W Ferkol, Scott D Sagel, Margaret Rosenfeld, Andrew Rutman, Abhijit Dixit, Christopher O’Callaghan, Jane S Lucas, Claire Hogg, Peter J Scambler, Richard D Emes, UK10K, Eddie MK Chung, Amelia Shoemark, Michael R Knowles, Heymut Omran, Hannah M Mitchison
Hum Mutat. Author manuscript; available in PMC 2014 Mar 1.
Published in final edited form as: Hum Mutat. 2013 Mar; 34(3): 462–472. Published online 2013 Feb 11. doi: 10.1002/humu.22261
PMCID:
PMC3630464
AbstractArticlePDF–1.3M
8.
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs
Anne-Christine Merveille, Erica E Davis, Anita Becker-Heck, Marie Legendre, Israel Amirav, Géraldine Bataille, John Belmont, Nicole Beydon, Frédéric Billen, Annick Clément, Cécile Clercx, André Coste, Rachelle Crosbie, Jacques de Blic, Stephane Deleuze, Philippe Duquesnoy, Denise Escalier, Estelle Escudier, Manfred Fliegauf, Judith Horvath, Kent Hill, Mark Jorissen, Jocelyne Just, Andreas Kispert, Mark Lathrop, Niki Tomas Loges, June K Marthin, Yukihide Momozawa, Guy Montantin, Kim G Nielsen, Heike Olbrich, Jean-François Papon, Isabelle Rayet, Gilles Roger, Miriam Schmidts, Henrique Tenreiro, Jeffrey A Towbin, Diana Zelenika, Hanswalter Zentgraf, Michel Georges, Anne-Sophie Lequarré, Nicholas Katsanis, Heymut Omran, Serge Amselem
Nat Genet. Author manuscript; available in PMC 2012 Nov 29.
Published in final edited form as: Nat Genet. 2011 Jan; 43(1): 72–78. Published online 2010 Dec 5. doi: 10.1038/ng.726
PMCID:
PMC3509786
AbstractArticlePDF–2.2M
9.
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
AbstractArticlePDF–1.0M
10.
Focusing Forward Genetics: A Tripartite ENU Screen for Neurodevelopmental Mutations in the Mouse
R. W. Stottmann, J. L. Moran, A. Turbe-Doan, E. Driver, M. Kelley, D. R. Beier
Genetics. 2011 Jul; 188(3): 615–624. doi: 10.1534/genetics.111.126862
PMCID:
PMC3176541
AbstractArticlePDF–1.1M
11.
The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation
Anita Becker-Heck, Irene Zohn, Noriko Okabe, Andrew Pollock, Kari Baker Lenhart, Jessica Sullivan-Brown, Jason McSheene, Niki T. Loges, Heike Olbrich, Karsten Haeffner, Manfred Fliegauf, Judith Horvath, Richard Reinhardt, Kim G. Nielsen, June K Marthin, Gyorgy Baktai, Kathryn V. Anderson, Robert Geisler, Lee Niswander, Heymut Omran, Rebecca D. Burdine
Nat Genet. Author manuscript; available in PMC 2011 Jul 8.
Published in final edited form as: Nat Genet. 2011 Jan; 43(1): 79–84. Published online 2010 Dec 5. doi: 10.1038/ng.727
PMCID:
PMC3132183
AbstractArticlePDF–4.5M

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