Search Results - "Klena, Nikolai T."

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

“…A diverse family of cytoskeletal dynein motors powers various cellular transport systems, including axonemal dyneins generating the force for ciliary and…”
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MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates by 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

“…Christopher Gordon, Cecilia Lo, Patrice Bouvagnet and colleagues report loss-of-function mutations in the MMP21 gene (encoding matrix metallopeptidase 21) that…”
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ANKS6 is the critical activator of NEK8 kinase in embryonic situs determination and organ patterning by 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.

“…The ciliary kinase NEK8 plays a critical role in situs determination and cystic kidney disease, yet its exact function remains unknown. In this study, we…”
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Cyclic Di-GMP Phosphodiesterases RmdA and RmdB Are Involved in Regulating Colony Morphology and Development in Streptomyces coelicolor by Hull, Travis D, Ryu, Min-Hyung, Sullivan, Matthew J, Johnson, Ryan C, Klena, Nikolai T, Geiger, Robert M, Gomelsky, Mark, Bennett, Jennifer A

“…Cyclic dimeric GMP (c-di-GMP) regulates numerous processes in Gram-negative bacteria, yet little is known about its role in Gram-positive bacteria. Here we…”
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Role of cilia in structural birth defects: Insights from ciliopathy mutant mouse models by Rao Damerla, Rama, Gabriel, George C., Li, You, Klena, Nikolai T., Liu, Xiaoqin, Chen, Yu, Cui, Cheng, Pazour, Gregory J., Lo, Cecilia W.

“…Structural birth defect (SBD) is a major cause of morbidity and mortality in the newborn period. Although the etiology of SBD is diverse, a wide spectrum of…”
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Cilia and Ciliopathies in Congenital Heart Disease by Klena, Nikolai T, Gibbs, Brian C, Lo, Cecilia W

“…A central role for cilia in congenital heart disease (CHD) was recently identified in a large-scale mouse mutagenesis screen. Although the screen was…”
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Global genetic analysis in mice unveils central role for cilia in congenital heart disease by 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.

“…A forward genetic screen in fetal mice to identify genes involved in congenital heart disease (CHD) reveals that a large proportion of genes associated with…”
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The complex genetics of hypoplastic left heart syndrome by 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

“…Cecilia Lo and colleagues report the recovery of mice with hypoplastic left heart syndrome (HLHS) from a large mutagenesis screen. They find genetic…”
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Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia by 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.

“…Ciliopathies such as cranioectodermal dysplasia, Sensenbrenner syndrome, short‐rib polydactyly, and Jeune syndrome are associated with respiratory…”
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