Search Results - "Mitchison, Hannah M."

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

“…Ciliopathies are inherited human disorders caused by both motile and non‐motile cilia dysfunction that form an important and rapidly expanding disease…”
Get full text

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

“…The core axoneme structure of both the motile cilium and sperm tail has the same ultrastructural 9 + 2 microtubular arrangement. Thus, it can be expected that…”
Get full text

Axonemal structures reveal mechanoregulatory and disease mechanisms by 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

“…Motile cilia and flagella beat rhythmically on the surface of cells to power the flow of fluid and to enable spermatozoa and unicellular eukaryotes to swim. In…”
Get full text

Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry by 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

“…Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder characterized by defective cilia and flagella motility. Chronic…”
Get full text

Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia by 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.

“…Defects in motile cilia and sperm flagella cause primary ciliary dyskinesia (PCD), characterized by chronic airway disease, infertility, and left-right…”
Get full text

Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus by 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.

“…Motile cilia move body fluids and gametes and the beating of cilia lining the airway epithelial surfaces ensures that they are kept clear and protected from…”
Get full text

DYX1C1 is required for axonemal dynein assembly and ciliary motility by 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

“…Heymut Omran, Joseph LoTurco and colleagues show that mutations in the dyslexia susceptibility candidate gene DYX1C1 cause primary ciliary dyskinesia. Their…”
Get full text

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…”
Get full text

CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms by 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

“…Iain Drummond, Heymut Omran, Stephen King and colleagues show that CCDC103 mutations cause primary ciliary dyskinesia. Their studies suggest that CCDC103 is a…”
Get full text

Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans by 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

“…Intraflagellar transport (IFT) depends on two evolutionarily conserved modules, subcomplexes A (IFT-A) and B (IFT-B), to drive ciliary assembly and…”
Get full text

Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60 by McInerney-Leo, Aideen M., Schmidts, Miriam, Cortés, Claudio R., Leo, Paul J., Gener, Blanca, Courtney, Andrew D., Gardiner, Brooke, Harris, Jessica A., Lu, Yeping, Marshall, Mhairi, Scambler, Peter J., Beales, Philip L., Brown, Matthew A., Zankl, Andreas, Mitchison, Hannah M., Duncan, Emma L., Wicking, Carol

“…Short-rib polydactyly syndromes (SRPS I–V) are a group of lethal congenital disorders characterized by shortening of the ribs and long bones, polydactyly, and…”
Get full text

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies by 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

“…Jeune asphyxiating thoracic dystrophy (JATD) is a skeletal dysplasia characterized by a small thoracic cage and a range of skeletal and extra-skeletal…”
Get full text

Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia by 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.

“…Primary ciliary dyskinesia (PCD) is a ciliopathy characterized by airway disease, infertility, and laterality defects, often caused by dual loss of the inner…”
Get full text

Higher throughput drug screening for rare respiratory diseases: readthrough therapy in primary ciliary dyskinesia by 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

“…Development of therapeutic approaches for rare respiratory diseases is hampered by the lack of systems that allow medium-to-high-throughput screening of fully…”
Get full text

Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy by 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.

“…Bidirectional (anterograde and retrograde) motor-based intraflagellar transport (IFT) governs cargo transport and delivery processes that are essential for…”
Get full text

IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans by Bakey, Zeineb, Cabrera, Oscar A, Hoefele, Julia, Antony, Dinu, Wu, Kaman, Stuck, Michael W, Micha, Dimitra, Eguether, Thibaut, Smith, Abigail O, van der Wel, Nicole N, Wagner, Matias, Strittmatter, Lara, Beales, Philip L, Jonassen, Julie A, Thiffault, Isabelle, Cadieux-Dion, Maxime, Boyes, Laura, Sharif, Saba, Tüysüz, Beyhan, Dunstheimer, Desiree, Niessen, Hans W M, Devine, William, Lo, Cecilia W, Mitchison, Hannah M, Schmidts, Miriam, Pazour, Gregory J

“…Motile and non-motile cilia play critical roles in mammalian development and health. These organelles are composed of a 1000 or more unique proteins, but their…”
Get full text

Motile cilia defects in diseases other than primary ciliary dyskinesia: The contemporary diagnostic and research role for transmission electron microscopy by Mitchison, Hannah M, Shoemark, Amelia

“…Ultrastructural studies have underpinned the cell biological and clinical investigations of the varied roles of motile cilia in health and disease, with a long…”
Get full text

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

“…Cilia are highly specialized cellular organelles that serve multiple functions in human development and health. Their central importance in the body is…”
Get full text

Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects by Onoufriadis, Alexandros, Shoemark, Amelia, Schmidts, Miriam, Patel, Mitali, Jimenez, Gina, Liu, Hui, Thomas, Biju, Dixon, Mellisa, Hirst, Robert A, Rutman, Andrew, Burgoyne, Thomas, Williams, Christopher, Scully, Juliet, Bolard, Florence, Lafitte, Jean-Jacques, Beales, Philip L, Hogg, Claire, Yang, Pinfen, Chung, Eddie M K, Emes, Richard D, O'Callaghan, Christopher, Bouvagnet, Patrice, Mitchison, Hannah M

“…Primary ciliary dyskinesia (PCD) is an inherited chronic respiratory obstructive disease with randomized body laterality and infertility, resulting from cilia…”
Get full text

HEATR2 plays a conserved role in assembly of the ciliary motile apparatus by Diggle, Christine P, Moore, Daniel J, Mali, Girish, zur Lage, Petra, Ait-Lounis, Aouatef, Schmidts, Miriam, Shoemark, Amelia, Garcia Munoz, Amaya, Halachev, Mihail R, Gautier, Philippe, Yeyati, Patricia L, Bonthron, David T, Carr, Ian M, Hayward, Bruce, Markham, Alexander F, Hope, Jilly E, von Kriegsheim, Alex, Mitchison, Hannah M, Jackson, Ian J, Durand, Bénédicte, Reith, Walter, Sheridan, Eamonn, Jarman, Andrew P, Mill, Pleasantine

“…Cilia are highly conserved microtubule-based structures that perform a variety of sensory and motility functions during development and adult homeostasis. In…”
Get full text