Motility of efferent duct cilia aids passage of sperm cells through the male reproductive system

por Aprea, Isabella, Nöthe-Menchen, Tabea, Dougherty, Gerard W, Raidt, Johanna, Loges, Niki T, Kaiser, Thomas, Wallmeier, Julia, Olbrich, Heike, Strünker, Timo, Kliesch, Sabine, Pennekamp, Petra, Omran, Heymut
Publicado 2021

Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility

por Aprea, Isabella, Raidt, Johanna, Höben, Inga Marlena, Loges, Niki Tomas, Nöthe-Menchen, Tabea, Pennekamp, Petra, Olbrich, Heike, Kaiser, Thomas, Biebach, Luisa, Tüttelmann, Frank, Horvath, Judit, Schubert, Maria, Krallmann, Claudia, Kliesch, Sabine, Omran, Heymut
Publicado 2021

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

por Mitchison, Hannah M., Schmidts, Miriam, Loges, Niki T., Freshour, Judy, Dritsoula, Athina, Hirst, Rob A., O’Callaghan, Christopher, Blau, Hannah, Dabbagh, Maha Al, Olbrich, Heike, Beales, Philip L., Yagi, Toshiki, Mussaffi, Huda, Chung, Eddie M.K., Omran, Heymut, Mitchell, David R.
Publicado 2012

Severe pulmonary disease in an adult primary ciliary dyskinesia population in Brazil

por Olm, Mary Anne Kowal, Marson, Fernando Augusto Lima, Athanazio, Rodrigo Abensur, Nakagawa, Naomi Kondo, Macchione, Mariangela, Loges, Niki Tomas, Omran, Heymut, Rached, Samia Zahi, Bertuzzo, Carmen Sílvia, Stelmach, Rafael, Saldiva, Paulo Hilário Nascimento, Ribeiro, José Dirceu, Jones, Marcus Herbert, Mauad, Thais
Publicado 2019

Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects

por Paff, Tamara, Loges, Niki T., Aprea, Isabella, Wu, Kaman, Bakey, Zeineb, Haarman, Eric G., Daniels, Johannes M.A., Sistermans, Erik A., Bogunovic, Natalija, Dougherty, Gerard W., Höben, Inga M., Große-Onnebrink, Jörg, Matter, Anja, Olbrich, Heike, Werner, Claudius, Pals, Gerard, Schmidts, Miriam, Omran, Heymut, Micha, Dimitra
Publicado 2017

Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins

por Omran, Heymut, Kobayashi, Daisuke, Olbrich, Heike, Tsukahara, Tatsuya, Loges, Niki Tomas, Hagiwara, Haruo, Zhang, Qi, Leblond, Gerard, O’Toole, Eileen, Hara, Chikako, Mizuno, Hideaki, Kawano, Hiroyuki, Fliegauf, Manfred, Yagi, Toshiki, Koshida, Sumito, Miyawaki, Atsushi, Zentgraf, Hanswalter, Seithe, Horst, Reinhardt, Richard, Watanabe, Yoshinori, Kamiya, Ritsu, Mitchell, David R., Takeda, Hiroyuki
Publicado 2008

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects

por Loges, Niki T., Antony, Dinu, Maver, Ales, Deardorff, Matthew A., Güleç, Elif Yýlmaz, Gezdirici, Alper, Nöthe-Menchen, Tabea, Höben, Inga M., Jelten, Lena, Frank, Diana, Werner, Claudius, Tebbe, Johannes, Wu, Kaman, Goldmuntz, Elizabeth, Čuturilo, Goran, Krock, Bryan, Ritter, Alyssa, Hjeij, Rim, Bakey, Zeineb, Pennekamp, Petra, Dworniczak, Bernd, Brunner, Han, Peterlin, Borut, Tanidir, Cansaran, Olbrich, Heike, Omran, Heymut, Schmidts, Miriam
Publicado 2018

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

por Panizzi, Jennifer R., Becker-Heck, Anita, Castleman, Victoria H., Al-Mutairi, Dalal, 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 MK, Reinhardt, Richard, Mitchison, Hannah M., King, Stephen M., Omran, Heymut, Drummond, Iain A.
Publicado 2012

Collecting clinical data in primary ciliary dyskinesia- challenges and opportunities

por Amirav, Israel, Roduta Roberts, Mary, Mussaffi, Huda, Mandelberg, Avigdor, Roth, Yehudah, Abitbul, Revital, Luder, Anthony, Blau, Hannah, Alkrinawi, Soliman, Aviram, Micha, Ben-Ami, Marta, Rotschild, Moshe, Bentur, Lea, Shoseyov, David, Cohen-Cymberknoh, Malena, Kerem, Eitan, Avital, Avraham, Springer, Chaim, Hevroni, Avigdor, Dabbah, Husein, Elizur, Arnon, Picard, Elie, Goldberg, Shmuel, Rivlin, Joseph, Livnat, Galit, Lavie, Moran, Alias, Nael, Soferman, Ruth, Olbrich, Heike, Raidt, Johanna, Wallmeier, Julia, Werner, Claudius, Loges, Niki T., Omran, Heymut
Publicado 2016

Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility

por Ta-Shma, Asaf, Hjeij, Rim, Perles, Zeev, Dougherty, Gerard W., Abu Zahira, Ibrahim, Letteboer, Stef J. F., Antony, Dinu, Darwish, Alaa, Mans, Dorus A., Spittler, Sabrina, Edelbusch, Christine, Cindrić, Sandra, Nöthe-Menchen, Tabea, Olbrich, Heike, Stuhlmann, Friederike, Aprea, Isabella, Pennekamp, Petra, Loges, Niki T., Breuer, Oded, Shaag, Avraham, Rein, Azaria J. J. T., Gulec, Elif Yilmaz, Gezdirici, Alper, Abitbul, Revital, Elias, Nael, Amirav, Israel, Schmidts, Miriam, Roepman, Ronald, Elpeleg, Orly, Omran, Heymut
Publicado 2018

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

por 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.
Publicado 2014

CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module

por Dougherty, Gerard W., Mizuno, Katsutoshi, Nöthe-Menchen, Tabea, Ikawa, Yayoi, Boldt, Karsten, Ta-Shma, Asaf, Aprea, Isabella, Minegishi, Katsura, Pang, Yuan-Ping, Pennekamp, Petra, Loges, Niki T., Raidt, Johanna, Hjeij, Rim, Wallmeier, Julia, Mussaffi, Huda, Perles, Zeev, Elpeleg, Orly, Rabert, Franziska, Shiratori, Hidetaka, Letteboer, Stef J., Horn, Nicola, Young, Samuel, Strünker, Timo, Stumme, Friederike, Werner, Claudius, Olbrich, Heike, Takaoka, Katsuyoshi, Ide, Takahiro, Twan, Wang Kyaw, Biebach, Luisa, Große-Onnebrink, Jörg, Klinkenbusch, Judith A., Praveen, Kavita, Bracht, Diana C., Höben, Inga M., Junger, Katrin, Gützlaff, Jana, Cindrić, Sandra, Aviram, Micha, Kaiser, Thomas, Memari, Yasin, Dzeja, Petras P., Dworniczak, Bernd, Ueffing, Marius, Roepman, Ronald, Bartscherer, Kerstin, Katsanis, Nicholas, Davis, Erica E., Amirav, Israel, Hamada, Hiroshi, Omran, Heymut
Publicado 2020

Abstracts of the 52nd Workshop for Pediatric Research: Frankfurt, Germany. 27-28 October 2016

por van den Bruck, Rhea, Weil, Patrick P., Ziegenhals, Thomas, Schreiner, Philipp, Juranek, Stefan, Gödde, Daniel, Vogel, Silvia, Schuster, Frauke, Orth, Valerie, Dörner, Johannes, Pembaur, Daniel, Röper, Meike, Störkel, Stefan, Zirngibl, Hubert, Wirth, Stefan, Jenke, Andreas C. W., Postberg, Jan, Boy, Nikolas, Heringer, Jana, Haege, Gisela, Glahn, Esther M., Hoffmann, Georg F., Garbade, Sven F., Burgard, Peter, Kölker, Stefan, Chao, Cho-Ming, Yahya, Faady, Moiseenko, Alena, Shrestha, Amit, Ahmadvand, Negah, Quantius, Jennifer, Wilhelm, Jochen, El-Agha, Elie, Zimmer, Klaus-Peter, Bellusci, Saverio, Staufner, Christian, Kölker, Stefan, Prokisch, Holger, Hoffmann, Georg F., Seeliger, Stephan, Müller, Matthias, Hippe, Andreas, Steinkraus, Henrik, Wauer, Roland, Lachmann, Burkhard, Hofmann, Sigrun R., Hedrich, Christian M., Zierk, Jakob, Arzideh, Farhad, Haeckel, Rainer, Rascher, Wolfgang, Rauh, Manfred, Metzler, Markus, Thieme, Sebastian, Bandoła, Joanna, Richter, Cornelia, Ryser, Martin, Jamal, Arshad, Ashton, Michelle P., von Bonin, Malte, Kuhn, Matthias, Hedrich, Christian M., Bonifacio, Ezio, Berner, Reinhard, Brenner, Sebastian, Hammersen, Johanna, Has, Cristina, Naumann-Bartsch, Nora, Stachel, Daniel, Kiritsi, Dimitra, Söder, Stephan, Tardieu, Mathilde, Metzler, Markus, Bruckner-Tuderman, Leena, Schneider, Holm, Bohne, F., Langer, D., Cencic, R., Eggermann, T., Zechner, U., Pelletier, J., Zepp, F., Enklaar, T., Prawitt, D., Pech, Martin, Weckmann, Markus, Heinsen, Femke-Anouska, Franke, Andre, Happle, Christine, Dittrich, Anna-Maria, Hansen, Gesine, Fuchs, Oliver, von Mutius, Erika, Oliver, Brian G., Kopp, Matthias V., Paret, Claudia, Russo, Alexandra, Theruvath, Johanna, Keller, Bettina, El Malki, Khalifa, Lehmann, Nadine, Wingerter, Arthur, Neu, Marie A., Aslihan, Gerhold-Ay, Wagner, Wolfgang, Sommer, Clemens, Pietsch, Torsten, Seidmann, Larissa, Faber, Jörg, Schreiner, Felix, Ackermann, Merle, Michalik, Michael, Rother, Eva, Bilkei-Gorzo, Andras, Racz, Ildiko, Bindila, Laura, Lutz, Beat, Dötsch, Jörg, Zimmer, Andreas, Woelfle, Joachim, Fischer, Hendrik S., Ullrich, Tim L., Bührer, Christoph, Czernik, Christoph, Schmalisch, Gerd, Stein, Robert, Hofmann, Sigrun R., Hagenbuchner, Judith, Kiechl-Kohlendorfer, Ursula, Obexer, Petra, Ausserlechner, Michael J., Loges, Niki T., Frommer, Adrien Tobias, Wallmeier, Julia, Omran, Heymut, Öner-Sieben, Soner, Gimpfl, Martina, Rozman, Jan, Irmler, Martin, Beckers, Johannes, De Angelis, Martin Hrabe, Roscher, Adelbert, Wolf, Eckhard, Ensenauer, Regina, Nemes, Karolina, Frühwald, Michael, Hasselblatt, Martin, Siebert, Reiner, Kordes, Uwe, Kool, Marcel, Wang, Haicui, Hardy, Holly, Refai, Osama, Barwick, Katy E. S., Zimmerman, Holly H., Weis, Joachim, Baple, Emma L., Crosby, Andrew H., Cirak, Sebahattin, Hellmuth, C., Uhl, O., Standl, M., Heinrich, J., Thiering, E., Koletzko, B., Blümel, Lena, Kerl, Kornelius, Picard, Daniel, Frühwald, Michael C., Liebau, Max C., Reifenberger, Guido, Borkhardt, Arndt, Hasselblatt, Martin, Remke, Marc, Tews, D., Wabitsch, M., Fischer-Posovszky, P., Westhoff, Mike-Andrew, Nonnenmacher, Lisa, Langhans, Julia, Schneele, Lukas, Trenkler, Nancy, Debatin, Klaus-Michael
Publicado 2017