Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility
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
Published in PLoS genetics (01.02.2021)
Published in PLoS genetics (01.02.2021)
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Journal Article
Motility of efferent duct cilia aids passage of sperm cells through the male reproductive system
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
Published in Molecular human reproduction (27.02.2021)
Published in Molecular human reproduction (27.02.2021)
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Journal Article
De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry
Wallmeier, Julia, Frank, Diana, Shoemark, Amelia, Nöthe-Menchen, Tabea, Cindric, Sandra, Olbrich, Heike, Loges, Niki T., Aprea, Isabella, Dougherty, Gerard W., Pennekamp, Petra, Kaiser, Thomas, Mitchison, Hannah M., Hogg, Claire, Carr, Siobhán B., Zariwala, Maimoona A., Ferkol, Thomas, Leigh, Margaret W., Davis, Stephanie D., Atkinson, Jeffrey, Dutcher, Susan K., Knowles, Michael R., Thiele, Holger, Altmüller, Janine, Krenz, Henrike, Wöste, Marius, Brentrup, Angela, Ahrens, Frank, Vogelberg, Christian, Morris-Rosendahl, Deborah J., Omran, Heymut
Published in American journal of human genetics (07.11.2019)
Published in American journal of human genetics (07.11.2019)
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Journal Article
Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects
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
Published in American journal of human genetics (06.12.2018)
Published in American journal of human genetics (06.12.2018)
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Journal Article
Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility
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
Published in PLoS genetics (27.08.2018)
Published in PLoS genetics (27.08.2018)
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Journal Article
Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms
Höben, Inga M., Hjeij, Rim, Olbrich, Heike, Dougherty, Gerard W., Nöthe-Menchen, Tabea, Aprea, Isabella, Frank, Diana, Pennekamp, Petra, Dworniczak, Bernd, Wallmeier, Julia, Raidt, Johanna, Nielsen, Kim G., Philipsen, Maria C., Santamaria, Francesca, Venditto, Laura, Amirav, Israel, Mussaffi, Huda, Prenzel, Freerk, Wu, Kaman, Bakey, Zeineb, Schmidts, Miriam, Loges, Niki T., Omran, Heymut
Published in American journal of human genetics (03.05.2018)
Published in American journal of human genetics (03.05.2018)
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Journal Article
CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module
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
Published in Nature communications (02.11.2020)
Published in Nature communications (02.11.2020)
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Journal Article
Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex
Olbrich, Heike, Cremers, Carolin, Loges, Niki T., Werner, Claudius, Nielsen, Kim G., Marthin, June K., Philipsen, Maria, Wallmeier, Julia, Pennekamp, Petra, Menchen, Tabea, Edelbusch, Christine, Dougherty, Gerard W., Schwartz, Oliver, Thiele, Holger, Altmüller, Janine, Rommelmann, Frank, Omran, Heymut
Published in American journal of human genetics (01.10.2015)
Published in American journal of human genetics (01.10.2015)
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Journal Article
DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes
Dougherty, Gerard W, Loges, Niki T, Klinkenbusch, Judith A, Olbrich, Heike, Pennekamp, Petra, Menchen, Tabea, Raidt, Johanna, Wallmeier, Julia, Werner, Claudius, Westermann, Cordula, Ruckert, Christian, Mirra, Virginia, Hjeij, Rim, Memari, Yasin, Durbin, Richard, Kolb-Kokocinski, Anja, Praveen, Kavita, Kashef, Mohammad A, Kashef, Sara, Eghtedari, Fardin, Häffner, Karsten, Valmari, Pekka, Baktai, György, Aviram, Micha, Bentur, Lea, Amirav, Israel, Davis, Erica E, Katsanis, Nicholas, Brueckner, Martina, Shaposhnykov, Artem, Pigino, Gaia, Dworniczak, Bernd, Omran, Heymut
Published in American journal of respiratory cell and molecular biology (01.08.2016)
Published in American journal of respiratory cell and molecular biology (01.08.2016)
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Journal Article
Ciliary function and motor protein composition of human fallopian tubes
Raidt, Johanna, Werner, Claudius, Menchen, Tabea, Dougherty, Gerard W., Olbrich, Heike, Loges, Niki T., Schmitz, Ralf, Pennekamp, Petra, Omran, Heymut
Published in Human reproduction (Oxford) (01.12.2015)
Published in Human reproduction (Oxford) (01.12.2015)
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Journal Article
Cyclin O (Ccno) functions during deuterosome-mediated centriole amplification of multiciliated cells
Funk, Maja C, Bera, Agata N, Menchen, Tabea, Kuales, Georg, Thriene, Kerstin, Lienkamp, Soeren S, Dengjel, Jörn, Omran, Heymut, Frank, Marcus, Arnold, Sebastian J
Published in The EMBO journal (15.04.2015)
Published in The EMBO journal (15.04.2015)
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Journal Article
Pathogenic variants in CLXN encoding the outer dynein arm docking–associated calcium-binding protein calaxin cause primary ciliary dyskinesia
Hjeij, Rim, Aprea, Isabella, Poeta, Marco, Nöthe-Menchen, Tabea, Bracht, Diana, Raidt, Johanna, Honecker, Barbara I., Dougherty, Gerard W., Olbrich, Heike, Schwartz, Oliver, Keller, Ulrike, Nüsse, Harald, Diderich, Karin E.M., Vogelberg, Christian, Santamaria, Francesca, Omran, Heymut
Published in Genetics in medicine (01.05.2023)
Published in Genetics in medicine (01.05.2023)
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Journal Article
Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis
Dougherty, Gerard W, Ostrowski, Lawrence E, Nöthe-Menchen, Tabea, Raidt, Johanna, Schramm, Andre, Olbrich, Heike, Yin, Weining, Sears, Patrick R, Dang, Hong, Smith, Amanda J, Beule, Achim G, Hjeij, Rim, Rutjes, Niels, Haarman, Eric G, Maas, Saskia M, Ferkol, Thomas W, Noone, Peadar G, Olivier, Kenneth N, Bracht, Diana C, Barbry, Pascal, Zaragosi, Laure-Emmanuelle, Fierville, Morgane, Kliesch, Sabine, Wohlgemuth, Kai, König, Julia, George, Sebastian, Loges, Niki T, Ceppe, Agathe, Markovetz, Matthew R, Luo, Hong, Guo, Ting, Rizk, Hoda, Eldesoky, Tarek, Dahlke, Katrin, Boldt, Karsten, Ueffing, Marius, Hill, David B, Pang, Yuan-Ping, Knowles, Michael R, Zariwala, Maimoona A, Omran, Heymut
Published in American journal of respiratory and critical care medicine (01.07.2024)
Published in American journal of respiratory and critical care medicine (01.07.2024)
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Journal Article
Situs inversus and ciliary abnormalities: 20 years later, what is the connection?
Pennekamp, Petra, Menchen, Tabea, Dworniczak, Bernd, Hamada, Hiroshi
Published in Cilia (London) (14.01.2015)
Published in Cilia (London) (14.01.2015)
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Journal Article
miR449 Protects Airway Regeneration by Controlling AURKA/HDAC6-Mediated Ciliary Disassembly
Wildung, Merit, Herr, Christian, Riedel, Dietmar, Wiedwald, Cornelia, Moiseenko, Alena, Ramírez, Fidel, Tasena, Hataitip, Heimerl, Maren, Alevra, Mihai, Movsisyan, Naira, Schuldt, Maike, Volceanov-Hahn, Larisa, Provoost, Sharen, Nöthe-Menchen, Tabea, Urrego, Diana, Freytag, Bernard, Wallmeier, Julia, Beisswenger, Christoph, Bals, Robert, van den Berge, Maarten, Timens, Wim, Hiemstra, Pieter S., Brandsma, Corry-Anke, Maes, Tania, Andreas, Stefan, Heijink, Irene H., Pardo, Luis A., Lizé, Muriel
Published in International journal of molecular sciences (13.07.2022)
Published in International journal of molecular sciences (13.07.2022)
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Journal Article
Randomization of Left-right Asymmetry and Congenital Heart Defects: The Role of DNAH5 in Humans and Mice
Nöthe-Menchen, Tabea, Wallmeier, Julia, Pennekamp, Petra, Höben, Inga M, Olbrich, Heike, Loges, Niki T, Raidt, Johanna, Dougherty, Gerard W, Hjeij, Rim, Dworniczak, Bernd, Omran, Heymut
Published in Circulation. Genomic and precision medicine (01.11.2019)
Published in Circulation. Genomic and precision medicine (01.11.2019)
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Journal Article
Evolutionary Proteomics Uncovers Ancient Associations of Cilia with Signaling Pathways
Sigg, Monika Abedin, Menchen, Tabea, Lee, Chanjae, Johnson, Jeffery, Jungnickel, Melissa K., Choksi, Semil P., Garcia, Galo, Busengdal, Henriette, Dougherty, Gerard W., Pennekamp, Petra, Werner, Claudius, Rentzsch, Fabian, Florman, Harvey M., Krogan, Nevan, Wallingford, John B., Omran, Heymut, Reiter, Jeremy F.
Published in Developmental cell (18.12.2017)
Published in Developmental cell (18.12.2017)
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Journal Article
Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia
Wallmeier, Julia, Al-Mutairi, Dalal A, Chen, Chun-Ting, Loges, Niki Tomas, Pennekamp, Petra, Menchen, Tabea, Ma, Lina, Shamseldin, Hanan E, Olbrich, Heike, Dougherty, Gerard W, Werner, Claudius, Alsabah, Basel H, Köhler, Gabriele, Jaspers, Martine, Boon, Mieke, Griese, Matthias, Schmitt-Grohé, Sabina, Zimmermann, Theodor, Koerner-Rettberg, Cordula, Horak, Elisabeth, Kintner, Chris, Alkuraya, Fowzan S, Omran, Heymut
Published in Nature genetics (01.06.2014)
Published in Nature genetics (01.06.2014)
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Journal Article
TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization
Wallmeier, Julia, Shiratori, Hidetaka, Dougherty, Gerard W., Edelbusch, Christine, Hjeij, Rim, Loges, Niki T., Menchen, Tabea, Olbrich, Heike, Pennekamp, Petra, Raidt, Johanna, Werner, Claudius, Minegishi, Katsura, Shinohara, Kyosuke, Asai, Yasuko, Takaoka, Katsuyoshi, Lee, Chanjae, Griese, Matthias, Memari, Yasin, Durbin, Richard, Kolb-Kokocinski, Anja, Sauer, Sascha, Wallingford, John B., Hamada, Hiroshi, Omran, Heymut
Published in American journal of human genetics (04.08.2016)
Published in American journal of human genetics (04.08.2016)
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Journal Article
CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation
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.
Published in American journal of human genetics (04.09.2014)
Published in American journal of human genetics (04.09.2014)
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