Recessive Mutations in CFAP74 Cause Primary Ciliary Dyskinesia with Normal Ciliary Ultrastructure

por Biebach, Luisa, Cindrić, Sandra, Koenig, Julia, Aprea, Isabella, Dougherty, Gerard W., Raidt, Johanna, Bracht, Diana, Ruppel, Renate, Schreiber, Jens, Hjeij, Rim, Olbrich, Heike, Omran, Heymut
Publicado 2022

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

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

Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extra-oral halitosis

por Pol, Arjan, Renkema, G. Herma, Tangerman, Albert, Winkel, Edwin G., Engelke, Udo F., de Brouwer, Arjan P. M., Lloyd, Kent C., Araiza, Renee S., van den Heuvel, Lambert, Omran, Heymut, Olbrich, Heike, Elberink, Marijn Oude, Gilissen, Christian, Rodenburg, Richard J., Sass, Jörn Oliver, Schwab, K. Otfried, Schäfer, Hendrik, Venselaar, Hanka, Sequeira, J. Silvia, Op den Camp, Huub J.M., Wevers, Ron A.
Publicado 2017

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

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