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Glutamylation imbalance impairs the molecular architecture of the photoreceptor cilium
Mercey, Olivier, Gadadhar, Sudarshan, Magiera, Maria M, Lebrun, Laura, Kostic, Corinne, Moulin, Alexandre, Arsenijevic, Yvan, Janke, Carsten, Guichard, Paul, Hamel, Virginie
Published in The EMBO journal (16.12.2024)
Published in The EMBO journal (16.12.2024)
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Journal Article
Standardizing Nasal Nitric Oxide Measurement as a Test for Primary Ciliary Dyskinesia
Leigh, Margaret W., Hazucha, Milan J., Chawla, Kunal K., Baker, Brock R., Shapiro, Adam J., Brown, David E., LaVange, Lisa M., Horton, Bethany J., Qaqish, Bahjat, Carson, Johnny L., Davis, Stephanie D., Dell, Sharon D., Ferkol, Thomas W., Atkinson, Jeffrey J., Olivier, Kenneth N., Sagel, Scott D., Rosenfeld, Margaret, Milla, Carlos, Lee, Hye-Seung, Krischer, Jeffrey, Zariwala, Maimoona A., Knowles, Michael R.
Published in Annals of the American Thoracic Society (01.12.2013)
Published in Annals of the American Thoracic Society (01.12.2013)
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Journal Article
Genotype‐Phenotype Correlation in a Group of Italian Patients With Primary Ciliary Dyskinesia
Petrarca, Laura, Guida, Valentina, Nenna, Raffaella, De Luca, Alessandro, Goldoni, Marina, Bernardini, Laura, Conti, Maria Giulia, Cimino, Giuseppe, Mancino, Enrica, Masuelli, Laura, Poli, Piercarlo, Midulla, Fabio
Published in Pediatric pulmonology (01.04.2025)
Published in Pediatric pulmonology (01.04.2025)
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Journal Article
Three-dimensional organization of nascent rod outer segment disk membranes
Volland, Stefanie, Hughes, Louise C., Kong, Christina, Burgess, Barry L., Linberg, Kenneth A., Luna, Gabriel, Zhou, Z. Hong, Fisher, Steven K., Williams, David S.
Published in Proceedings of the National Academy of Sciences - PNAS (01.12.2015)
Published in Proceedings of the National Academy of Sciences - PNAS (01.12.2015)
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Journal Article
PCD Detect: enhancing ciliary features through image averaging and classification
Shoemark, Amelia, Pinto, Andreia L., Patel, Mitali P., Daudvohra, Farheen, Hogg, Claire, Mitchison, Hannah M., Burgoyne, Thomas
Published in American journal of physiology. Lung cellular and molecular physiology (01.12.2020)
Published in American journal of physiology. Lung cellular and molecular physiology (01.12.2020)
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Journal Article
CCDC65 Mutation Causes Primary Ciliary Dyskinesia with Normal Ultrastructure and Hyperkinetic Cilia
Horani, Amjad, Brody, Steven L., Ferkol, Thomas W., Shoseyov, David, Wasserman, Mollie G., Ta-shma, Asaf, Wilson, Kate S., Bayly, Philip V., Amirav, Israel, Cohen-Cymberknoh, Malena, Dutcher, Susan K., Elpeleg, Orly, Kerem, Eitan
Published in PloS one (26.08.2013)
Published in PloS one (26.08.2013)
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Journal Article
Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure
Knowles, Michael R, Leigh, Margaret W, Carson, Johnny L, Davis, Stephanie D, Dell, Sharon D, Ferkol, Thomas W, Olivier, Kenneth N, Sagel, Scott D, Rosenfeld, Margaret, Burns, Kimberlie A, Minnix, Susan L, Armstrong, Michael C, Lori, Adriana, Hazucha, Milan J, Loges, Niki T, Olbrich, Heike, Becker-Heck, Anita, Schmidts, Miriam, Werner, Claudius, Omran, Heymut, Zariwala, Maimoona A
Published in Thorax (01.05.2012)
Published in Thorax (01.05.2012)
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Journal Article
Ciliary dysfunction and ultrastructural abnormalities are features of severe asthma
Thomas, Biju, Rutman, Andrew, Hirst, Robert A., Haldar, Pranab, Wardlaw, Andrew J., Bankart, John, Brightling, Christopher E., O'Callaghan, Christopher
Published in Journal of allergy and clinical immunology (01.10.2010)
Published in Journal of allergy and clinical immunology (01.10.2010)
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Journal Article
Primary Ciliary Dyskinesia: Diagnostic and Phenotypic Features
Noone, Peadar G, Leigh, Margaret W, Sannuti, Aruna, Minnix, Susan L, Carson, Johnny L, Hazucha, Milan, Zariwala, Maimoona A, Knowles, Michael R
Published in American journal of respiratory and critical care medicine (15.02.2004)
Published in American journal of respiratory and critical care medicine (15.02.2004)
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Journal Article
Ventilation inhomogeneity in children with primary ciliary dyskinesia
Green, Kent, Buchvald, Frederik F, Marthin, June Kehlet, Hanel, Birgitte, Gustafsson, Per M, Nielsen, Kim Gjerum
Published in Thorax (01.01.2012)
Published in Thorax (01.01.2012)
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Journal Article
Founder Mutation in RSPH4A Identified in Patients of Hispanic Descent with Primary Ciliary Dyskinesia
Daniels, M. Leigh Anne, Leigh, Margaret W., Davis, Stephanie D., Armstrong, Michael C., Carson, Johnny L., Hazucha, Milan, Dell, Sharon D., Eriksson, Maria, Collins, Francis S., Knowles, Michael R., Zariwala, Maimoona A.
Published in Human mutation (01.10.2013)
Published in Human mutation (01.10.2013)
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Journal Article
Dual Origin of the Epithelium of the Mammalian Middle Ear
Thompson, Hannah, Tucker, Abigail S.
Published in Science (American Association for the Advancement of Science) (22.03.2013)
Published in Science (American Association for the Advancement of Science) (22.03.2013)
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Journal Article
Altered airway ciliary orientation in patients with X-linked retinitis pigmentosa
McCray, Gabrielle, Griffin, Paul, Martinello, Paul, de Iongh, Robb, Ruddle, Jonathan, Robinson, Phil
Published in Thorax (01.09.2019)
Published in Thorax (01.09.2019)
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Journal Article
Gene replacement therapy restores RCBTB1 expression and cilium length in patient‐derived retinal pigment epithelium
Huang, Zhiqin, Zhang, Dan, Chen, Shang‐Chih, Jennings, Luke, Carvalho, Livia S., Fletcher, Sue, Chen, Fred K., McLenachan, Samuel
Published in Journal of cellular and molecular medicine (01.11.2021)
Published in Journal of cellular and molecular medicine (01.11.2021)
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Journal Article
Spatiotemporal organization of cilia drives multiscale mucus swirls in model human bronchial epithelium
Khelloufi, Mustapha-Kamel, Loiseau, Etienne, Jaeger, Marc, Molinari, Nicolas, Chanez, Pascal, Gras, Delphine, Viallat, Annie
Published in Scientific reports (05.02.2018)
Published in Scientific reports (05.02.2018)
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Journal Article
Cytoplasmic “ciliary inclusions” in isolation are not sufficient for the diagnosis of primary ciliary dyskinesia
Vece, Timothy J., Sagel, Scott D., Zariwala, Maimoona A., Sullivan, Kelli M., Burns, Kimberlie A., Dutcher, Susan K., Yusupov, Roman, Leigh, Margaret W., Knowles, Michael R.
Published in Pediatric pulmonology (01.01.2020)
Published in Pediatric pulmonology (01.01.2020)
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Journal Article
Mislocalization of DNAH5 and DNAH9 in Respiratory Cells from Patients with Primary Ciliary Dyskinesia
Fliegauf, Manfred, Olbrich, Heike, Horvath, Judit, Wildhaber, Johannes H, Zariwala, Maimoona A, Kennedy, Marcus, Knowles, Michael R, Omran, Heymut
Published in American journal of respiratory and critical care medicine (15.06.2005)
Published in American journal of respiratory and critical care medicine (15.06.2005)
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Journal Article
Simplified cell culture method for the diagnosis of atypical primary ciliary dyskinesia
Pifferi, M, Montemurro, F, Cangiotti, A M, Ragazzo, V, Di Cicco, M, Vinci, B, Vozzi, G, Macchia, P, Boner, A L
Published in Thorax (01.12.2009)
Published in Thorax (01.12.2009)
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Journal Article