Motile and non‐motile cilia in human pathology: from function to phenotypes von Mitchison, Hannah M, Valente, Enza Maria

Volltext

Sperm defects in primary ciliary dyskinesia and related causes of male infertility von Sironen, Anu, Shoemark, Amelia, Patel, Mitali, Loebinger, Michael R., Mitchison, Hannah M.

Volltext

Quantum Coherence and Ergotropy von Francica, G., Binder, F. C., Guarnieri, G., Mitchison, M. T., Goold, J., Plastina, F.

Volltext

Axonemal structures reveal mechanoregulatory and disease mechanisms von Walton, Travis, Gui, Miao, Velkova, Simona, Fassad, Mahmoud R., Hirst, Robert A., Haarman, Eric, O’Callaghan, Christopher, Bottier, Mathieu, Burgoyne, Thomas, Mitchison, Hannah M., Brown, Alan

Volltext

Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry von OLBRICH, Heike, SCHMIDTS, Miriam, HURLES, Matthew E, CONSORTIUM, Ukk, KÖHLER, Gabriele, SCHROEDER, Josef, NÜRNBERG, Gudrun, NÜRNBERG, Peter, CHUNG, Eddie M. K, REINHARDT, Richard, MARTHIN, June K, NIELSEN, Kim G, WERNER, Claudius, MITCHISON, HannahM, OMRAN, Heymut, ONOUFRIADIS, Alexandros, LOGES, Niki T, RAIDT, Johanna, FANNI BANKI, Nora, SHOEMARK, Amelia, BURGOYNE, Tom, AL TURKI, Saeed

Volltext

Diagnosis and management of primary ciliary dyskinesia von Lucas, Jane S, Burgess, Andrea, Mitchison, Hannah M, Moya, Eduardo, Williamson, Michael, Hogg, Claire

Volltext

Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia von Onoufriadis, Alexandros, Paff, Tamara, Antony, Dinu, Shoemark, Amelia, Micha, Dimitra, Kuyt, Bertus, Schmidts, Miriam, Petridi, Stavroula, Dankert-Roelse, Jeanette E., Haarman, Eric G., Daniels, Johannes M.A., Emes, Richard D., Wilson, Robert, Hogg, Claire, Scambler, Peter J., Chung, Eddie M.K., Pals, Gerard, Mitchison, Hannah M.

Volltext

Role of the bicarbonate transporter SLC4γ in stony-coral skeleton formation and evolution von Tinoco, Amanda I, Mitchison-Field, Lorna M Y, Bradford, Jacob, Renicke, Christian, Perrin, Dimitri, Bay, Line K, Pringle, John R, Cleves, Phillip A

Volltext

Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus von Fassad, Mahmoud R., Shoemark, Amelia, Legendre, Marie, Hirst, Robert A., Koll, France, le Borgne, Pierrick, Louis, Bruno, Daudvohra, Farheen, Patel, Mitali P., Thomas, Lucie, Dixon, Mellisa, Burgoyne, Thomas, Hayes, Joseph, Nicholson, Andrew G., Cullup, Thomas, Jenkins, Lucy, Carr, Siobhán B., Aurora, Paul, Lemullois, Michel, Aubusson-Fleury, Anne, Papon, Jean-François, O’Callaghan, Christopher, Amselem, Serge, Hogg, Claire, Escudier, Estelle, Tassin, Anne-Marie, Mitchison, Hannah M.

Volltext

Motile cilia and airway disease von Legendre, Marie, Zaragosi, Laure-Emmanuelle, Mitchison, Hannah M.

Volltext

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

Volltext

DYX1C1 is required for axonemal dynein assembly and ciliary motility von Tarkar, Aarti, Loges, Niki T, Slagle, Christopher E, Francis, Richard, Dougherty, Gerard W, Tamayo, Joel V, Shook, Brett, Cantino, Marie, Schwartz, Daniel, Jahnke, Charlotte, Olbrich, Heike, Werner, Claudius, Raidt, Johanna, Pennekamp, Petra, Abouhamed, Marouan, Hjeij, Rim, Köhler, Gabriele, Griese, Matthias, Li, You, Lemke, Kristi, Klena, Nikolas, Liu, Xiaoqin, Gabriel, George, Tobita, Kimimasa, Jaspers, Martine, Morgan, Lucy C, Shapiro, Adam J, Letteboer, Stef J F, Mans, Dorus A, Carson, Johnny L, Leigh, Margaret W, Wolf, Whitney E, Chen, Serafine, Lucas, Jane S, Onoufriadis, Alexandros, Plagnol, Vincent, Schmidts, Miriam, Boldt, Karsten, Roepman, Ronald, Zariwala, Maimoona A, Lo, Cecilia W, Mitchison, Hannah M, Knowles, Michael R, Burdine, Rebecca D, LoTurco, Joseph J, Omran, Heymut

Volltext

Cell biology How cilia beat von Mitchison, T. J, Mitchison, H. M

Volltext

CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms von Panizzi, Jennifer R, Becker-Heck, Anita, Castleman, Victoria H, Al-Mutairi, Dalal A, Liu, Yan, Loges, Niki T, Pathak, Narendra, Austin-Tse, Christina, Sheridan, Eamonn, Schmidts, Miriam, Olbrich, Heike, Werner, Claudius, Häffner, Karsten, Hellman, Nathan, Chodhari, Rahul, Gupta, Amar, Kramer-Zucker, Albrecht, Olale, Felix, Burdine, Rebecca D, Schier, Alexander F, O'Callaghan, Christopher, Chung, Eddie M K, Reinhardt, Richard, Mitchison, Hannah M, King, Stephen M, Omran, Heymut, Drummond, Iain A

Volltext

Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans von Halbritter, Jan, Bizet, Albane A., Schmidts, Miriam, Porath, Jonathan D., Braun, Daniela A., Gee, Heon Yung, McInerney-Leo, Aideen M., Krug, Pauline, Filhol, Emilie, Davis, Erica E., Airik, Rannar, Czarnecki, Peter G., Lehman, Anna M., Trnka, Peter, Nitschké, Patrick, Bole-Feysot, Christine, Schueler, Markus, Knebelmann, Bertrand, Burtey, Stéphane, Szabó, Attila J., Tory, Kálmán, Leo, Paul J., Gardiner, Brooke, McKenzie, Fiona A., Zankl, Andreas, Brown, Matthew A., Hartley, Jane L., Maher, Eamonn R., Li, Chunmei, Leroux, Michel R., Scambler, Peter J., Zhan, Shing H., Jones, Steven J., Kayserili, Hülya, Tuysuz, Beyhan, Moorani, Khemchand N., Constantinescu, Alexandru, Krantz, Ian D., Kaplan, Bernard S., Shah, Jagesh V., Hurd, Toby W., Doherty, Dan, Katsanis, Nicholas, Duncan, Emma L., Otto, Edgar A., Beales, Philip L., Mitchison, Hannah M., Saunier, Sophie, Hildebrandt, Friedhelm

Volltext

Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia von Moore, Daniel J., Onoufriadis, Alexandros, Shoemark, Amelia, Simpson, Michael A., zur Lage, Petra I., de Castro, Sandra C., Bartoloni, Lucia, Gallone, Giuseppe, Petridi, Stavroula, Woollard, Wesley J., Antony, Dinu, Schmidts, Miriam, Didonna, Teresa, Makrythanasis, Periklis, Bevillard, Jeremy, Mongan, Nigel P., Djakow, Jana, Pals, Gerard, Lucas, Jane S., Marthin, June K., Nielsen, Kim G., Santoni, Federico, Guipponi, Michel, Hogg, Claire, Antonarakis, Stylianos E., Emes, Richard D., Chung, Eddie M.K., Greene, Nicholas D.E., Blouin, Jean-Louis, Jarman, Andrew P., Mitchison, Hannah M.

Volltext

Higher throughput drug screening for rare respiratory diseases: readthrough therapy in primary ciliary dyskinesia von Lee, Dani Do Hyang, Cardinale, Daniela, Nigro, Ersilia, Butler, Colin R, Rutman, Andrew, Fassad, Mahmoud R, Hirst, Robert A, Moulding, Dale, Agrotis, Alexander, Forsythe, Elisabeth, Peckham, Daniel, Robson, Evie, Smith, Claire M, Somavarapu, Satyanarayana, Beales, Philip L, Hart, Stephen L, Janes, Sam M, Mitchison, Hannah M, Ketteler, Robin, Hynds, Robert E, O'Callaghan, Christopher

Volltext

Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy von Schmidts, Miriam, Vodopiutz, Julia, Christou-Savina, Sonia, Cortés, Claudio R., McInerney-Leo, Aideen M., Emes, Richard D., Arts, Heleen H., Tüysüz, Beyhan, D’Silva, Jason, Leo, Paul J., Giles, Tom C., Oud, Machteld M., Harris, Jessica A., Koopmans, Marije, Marshall, Mhairi, Elçioglu, Nursel, Kuechler, Alma, Bockenhauer, Detlef, Moore, Anthony T., Wilson, Louise C., Janecke, Andreas R., Hurles, Matthew E., Emmet, Warren, Gardiner, Brooke, Streubel, Berthold, Dopita, Belinda, Zankl, Andreas, Kayserili, Hülya, Scambler, Peter J., Brown, Matthew A., Beales, Philip L., Wicking, Carol, Duncan, Emma L., Mitchison, Hannah M.

Volltext

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies von Shaheen, Ranad, Schmidts, Miriam, Faqeih, Eissa, Hashem, Amal, Lausch, Ekkehart, Holder, Isabel, Superti-Furga, Andrea, Mitchison, Hannah M, Almoisheer, Agaadir, Alamro, Rana, Alshiddi, Tarfa, Alzahrani, Fatma, Beales, Philip L, Alkuraya, Fowzan S

Volltext

Opportunities and Challenges for Molecular Understanding of Ciliopathies-The 100,000 Genomes Project von Wheway, Gabrielle, Mitchison, Hannah M

Volltext