CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation
Hjeij, Rim, Onoufriadis, Alexandros, Watson, Christopher M., Slagle, Christopher E., Klena, Nikolai T., Dougherty, Gerard W., Kurkowiak, Małgorzata, Loges, Niki T., Diggle, Christine P., Morante, Nicholas F.C., Gabriel, George C., Lemke, Kristi L., Li, You, Pennekamp, Petra, Menchen, Tabea, Konert, Franziska, Marthin, June Kehlet, Mans, Dorus A., Letteboer, Stef J.F., Werner, Claudius, Burgoyne, Thomas, Westermann, Cordula, Rutman, Andrew, Carr, Ian M., O’Callaghan, Christopher, Moya, Eduardo, Chung, Eddie M.K., Sheridan, Eamonn, Nielsen, Kim G., Roepman, Ronald, Bartscherer, Kerstin, Burdine, Rebecca D., Lo, Cecilia W., Omran, Heymut, Mitchison, Hannah M.
Published in American journal of human genetics (04.09.2014)
Published in American journal of human genetics (04.09.2014)
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MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates
Guimier, Anne, Gabriel, George C, Bajolle, Fanny, Tsang, Michael, Liu, Hui, Noll, Aaron, Schwartz, Molly, El Malti, Rajae, Smith, Laurie D, Klena, Nikolai T, Jimenez, Gina, Miller, Neil A, Oufadem, Myriam, Moreau de Bellaing, Anne, Yagi, Hisato, Saunders, Carol J, Baker, Candice N, Di Filippo, Sylvie, Peterson, Kevin A, Thiffault, Isabelle, Bole-Feysot, Christine, Cooley, Linda D, Farrow, Emily G, Masson, Cécile, Schoen, Patric, Deleuze, Jean-François, Nitschké, Patrick, Lyonnet, Stanislas, de Pontual, Loic, Murray, Stephen A, Bonnet, Damien, Kingsmore, Stephen F, Amiel, Jeanne, Bouvagnet, Patrice, Lo, Cecilia W, Gordon, Christopher T
Published in Nature genetics (01.11.2015)
Published in Nature genetics (01.11.2015)
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ANKS6 is the critical activator of NEK8 kinase in embryonic situs determination and organ patterning
Czarnecki, Peter G., Gabriel, George C., Manning, Danielle K., Sergeev, Mikhail, Lemke, Kristi, Klena, Nikolai T., Liu, Xiaoqin, Chen, Yu, Li, You, San Agustin, Jovenal T., Garnaas, Maija K., Francis, Richard J., Tobita, Kimimasa, Goessling, Wolfram, Pazour, Gregory J., Lo, Cecilia W., Beier, David R., Shah, Jagesh V.
Published in Nature communications (20.01.2015)
Published in Nature communications (20.01.2015)
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Cyclic Di-GMP Phosphodiesterases RmdA and RmdB Are Involved in Regulating Colony Morphology and Development in Streptomyces coelicolor
Hull, Travis D, Ryu, Min-Hyung, Sullivan, Matthew J, Johnson, Ryan C, Klena, Nikolai T, Geiger, Robert M, Gomelsky, Mark, Bennett, Jennifer A
Published in Journal of Bacteriology (01.09.2012)
Published in Journal of Bacteriology (01.09.2012)
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Role of cilia in structural birth defects: Insights from ciliopathy mutant mouse models
Rao Damerla, Rama, Gabriel, George C., Li, You, Klena, Nikolai T., Liu, Xiaoqin, Chen, Yu, Cui, Cheng, Pazour, Gregory J., Lo, Cecilia W.
Published in Birth defects research. Part C. Embryo today (01.06.2014)
Published in Birth defects research. Part C. Embryo today (01.06.2014)
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Cilia and Ciliopathies in Congenital Heart Disease
Klena, Nikolai T, Gibbs, Brian C, Lo, Cecilia W
Published in Cold Spring Harbor perspectives in biology (01.08.2017)
Published in Cold Spring Harbor perspectives in biology (01.08.2017)
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Global genetic analysis in mice unveils central role for cilia in congenital heart disease
Li, You, Klena, Nikolai T., Gabriel, George C., Liu, Xiaoqin, Kim, Andrew J., Lemke, Kristi, Chen, Yu, Chatterjee, Bishwanath, Devine, William, Damerla, Rama Rao, Chang, Chienfu, Yagi, Hisato, San Agustin, Jovenal T., Thahir, Mohamed, Anderton, Shane, Lawhead, Caroline, Vescovi, Anita, Pratt, Herbert, Morgan, Judy, Haynes, Leslie, Smith, Cynthia L., Eppig, Janan T., Reinholdt, Laura, Francis, Richard, Leatherbury, Linda, Ganapathiraju, Madhavi K., Tobita, Kimimasa, Pazour, Gregory J., Lo, Cecilia W.
Published in Nature (London) (28.05.2015)
Published in Nature (London) (28.05.2015)
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The complex genetics of hypoplastic left heart syndrome
Liu, Xiaoqin, Yagi, Hisato, Saeed, Shazina, Bais, Abha S, Gabriel, George C, Chen, Zhaohan, Peterson, Kevin A, Li, You, Schwartz, Molly C, Reynolds, William T, Saydmohammed, Manush, Gibbs, Brian, Wu, Yijen, Devine, William, Chatterjee, Bishwanath, Klena, Nikolai T, Kostka, Dennis, de Mesy Bentley, Karen L, Ganapathiraju, Madhavi K, Dexheimer, Phillip, Leatherbury, Linda, Khalifa, Omar, Bhagat, Anchit, Zahid, Maliha, Pu, William, Watkins, Simon, Grossfeld, Paul, Murray, Stephen A, Porter, George A, Tsang, Michael, Martin, Lisa J, Benson, D Woodrow, Aronow, Bruce J, Lo, Cecilia W
Published in Nature genetics (01.07.2017)
Published in Nature genetics (01.07.2017)
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Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia
Li, You, Garrod, Andrea S., Madan-Khetarpal, Suneeta, Sreedher, Gayathri, McGuire, Marianne, Yagi, Hisato, Klena, Nikolai T., Gabriel, George C., Khalifa, Omar, Zahid, Maliha, Panigrahy, Ashok, Weiner, Daniel J., Lo, Cecilia W.
Published in American journal of medical genetics. Part A (01.09.2015)
Published in American journal of medical genetics. Part A (01.09.2015)
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