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Start Over Author "Hjeij, Rim" Journal the american journal of human genetics
8 results on '"Hjeij, Rim"'

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

Author

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

Published
2018
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2. Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms

Author

Höben, Inga M., primary, Hjeij, Rim, additional, Olbrich, Heike, additional, Dougherty, Gerard W., additional, Nöthe-Menchen, Tabea, additional, Aprea, Isabella, additional, Frank, Diana, additional, Pennekamp, Petra, additional, Dworniczak, Bernd, additional, Wallmeier, Julia, additional, Raidt, Johanna, additional, Nielsen, Kim G., additional, Philipsen, Maria C., additional, Santamaria, Francesca, additional, Venditto, Laura, additional, Amirav, Israel, additional, Mussaffi, Huda, additional, Prenzel, Freerk, additional, Wu, Kaman, additional, Bakey, Zeineb, additional, Schmidts, Miriam, additional, Loges, Niki T., additional, and Omran, Heymut, additional

Published
2018
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3. TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization

Author

Wallmeier, Julia, primary, Shiratori, Hidetaka, additional, Dougherty, Gerard W., additional, Edelbusch, Christine, additional, Hjeij, Rim, additional, Loges, Niki T., additional, Menchen, Tabea, additional, Olbrich, Heike, additional, Pennekamp, Petra, additional, Raidt, Johanna, additional, Werner, Claudius, additional, Minegishi, Katsura, additional, Shinohara, Kyosuke, additional, Asai, Yasuko, additional, Takaoka, Katsuyoshi, additional, Lee, Chanjae, additional, Griese, Matthias, additional, Memari, Yasin, additional, Durbin, Richard, additional, Kolb-Kokocinski, Anja, additional, Sauer, Sascha, additional, Wallingford, John B., additional, Hamada, Hiroshi, additional, and Omran, Heymut, additional

Published
2016
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4. CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation

Author

Hjeij, Rim, primary, Onoufriadis, Alexandros, additional, Watson, Christopher M., additional, Slagle, Christopher E., additional, Klena, Nikolai T., additional, Dougherty, Gerard W., additional, Kurkowiak, Małgorzata, additional, Loges, Niki T., additional, Diggle, Christine P., additional, Morante, Nicholas F.C., additional, Gabriel, George C., additional, Lemke, Kristi L., additional, Li, You, additional, Pennekamp, Petra, additional, Menchen, Tabea, additional, Konert, Franziska, additional, Marthin, June Kehlet, additional, Mans, Dorus A., additional, Letteboer, Stef J.F., additional, Werner, Claudius, additional, Burgoyne, Thomas, additional, Westermann, Cordula, additional, Rutman, Andrew, additional, Carr, Ian M., additional, O’Callaghan, Christopher, additional, Moya, Eduardo, additional, Chung, Eddie M.K., additional, Sheridan, Eamonn, additional, Nielsen, Kim G., additional, Roepman, Ronald, additional, Bartscherer, Kerstin, additional, Burdine, Rebecca D., additional, Lo, Cecilia W., additional, Omran, Heymut, additional, and Mitchison, Hannah M., additional

Published
2014
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5. Mutations in SPAG1 Cause Primary Ciliary Dyskinesia Associated with Defective Outer and Inner Dynein Arms

Author

Knowles, Michael R., primary, Ostrowski, Lawrence E., additional, Loges, Niki T., additional, Hurd, Toby, additional, Leigh, Margaret W., additional, Huang, Lu, additional, Wolf, Whitney E., additional, Carson, Johnny L., additional, Hazucha, Milan J., additional, Yin, Weining, additional, Davis, Stephanie D., additional, Dell, Sharon D., additional, Ferkol, Thomas W., additional, Sagel, Scott D., additional, Olivier, Kenneth N., additional, Jahnke, Charlotte, additional, Olbrich, Heike, additional, Werner, Claudius, additional, Raidt, Johanna, additional, Wallmeier, Julia, additional, Pennekamp, Petra, additional, Dougherty, Gerard W., additional, Hjeij, Rim, additional, Gee, Heon Yung, additional, Otto, Edgar A., additional, Halbritter, Jan, additional, Chaki, Moumita, additional, Diaz, Katrina A., additional, Braun, Daniela A., additional, Porath, Jonathan D., additional, Schueler, Markus, additional, Baktai, György, additional, Griese, Matthias, additional, Turner, Emily H., additional, Lewis, Alexandra P., additional, Bamshad, Michael J., additional, Nickerson, Deborah A., additional, Hildebrandt, Friedhelm, additional, Shendure, Jay, additional, Omran, Heymut, additional, and Zariwala, Maimoona A., additional

Published
2013
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6. ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry

Author

Hjeij, Rim, primary, Lindstrand, Anna, additional, Francis, Richard, additional, Zariwala, Maimoona A., additional, Liu, Xiaoqin, additional, Li, You, additional, Damerla, Rama, additional, Dougherty, Gerard W., additional, Abouhamed, Marouan, additional, Olbrich, Heike, additional, Loges, Niki T., additional, Pennekamp, Petra, additional, Davis, Erica E., additional, Carvalho, Claudia M.B., additional, Pehlivan, Davut, additional, Werner, Claudius, additional, Raidt, Johanna, additional, Köhler, Gabriele, additional, Häffner, Karsten, additional, Reyes-Mugica, Miguel, additional, Lupski, James R., additional, Leigh, Margaret W., additional, Rosenfeld, Margaret, additional, Morgan, Lucy C., additional, Knowles, Michael R., additional, Lo, Cecilia W., additional, Katsanis, Nicholas, additional, and Omran, Heymut, additional

Published
2013
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7. ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6

Author

Zariwala, Maimoona A., primary, Gee, Heon Yung, additional, Kurkowiak, Małgorzata, additional, Al-Mutairi, Dalal A., additional, Leigh, Margaret W., additional, Hurd, Toby W., additional, Hjeij, Rim, additional, Dell, Sharon D., additional, Chaki, Moumita, additional, Dougherty, Gerard W., additional, Adan, Mohamed, additional, Spear, Philip C., additional, Esteve-Rudd, Julian, additional, Loges, Niki T., additional, Rosenfeld, Margaret, additional, Diaz, Katrina A., additional, Olbrich, Heike, additional, Wolf, Whitney E., additional, Sheridan, Eamonn, additional, Batten, Trevor F.C., additional, Halbritter, Jan, additional, Porath, Jonathan D., additional, Kohl, Stefan, additional, Lovric, Svjetlana, additional, Hwang, Daw-Yang, additional, Pittman, Jessica E., additional, Burns, Kimberlie A., additional, Ferkol, Thomas W., additional, Sagel, Scott D., additional, Olivier, Kenneth N., additional, Morgan, Lucy C., additional, Werner, Claudius, additional, Raidt, Johanna, additional, Pennekamp, Petra, additional, Sun, Zhaoxia, additional, Zhou, Weibin, additional, Airik, Rannar, additional, Natarajan, Sivakumar, additional, Allen, Susan J., additional, Amirav, Israel, additional, Wieczorek, Dagmar, additional, Landwehr, Kerstin, additional, Nielsen, Kim, additional, Schwerk, Nicolaus, additional, Sertic, Jadranka, additional, Köhler, Gabriele, additional, Washburn, Joseph, additional, Levy, Shawn, additional, Fan, Shuling, additional, Koerner-Rettberg, Cordula, additional, Amselem, Serge, additional, Williams, David S., additional, Mitchell, Brian J., additional, Drummond, Iain A., additional, Otto, Edgar A., additional, Omran, Heymut, additional, Knowles, Michael R., additional, and Hildebrandt, Friedhelm, additional

Published
2013
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8. CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation

Author

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, and Mitchison, Hannah M.

Subjects
Male, Axoneme, Immunoblotting, Fluorescent Antibody Technique, Article, Mice, Two-Hybrid System Techniques, Genetics, Animals, Humans, Immunoprecipitation, Genetics(clinical), Exome, Cilia, Cells, Cultured, In Situ Hybridization, Zebrafish, Mice, Knockout, Kartagener Syndrome, Axonemal Dyneins, Embryo, Mammalian, Pedigree, Phenotype, Mutation, Female, Microtubule-Associated Proteins
Abstract

A diverse family of cytoskeletal dynein motors powers various cellular transport systems, including axonemal dyneins generating the force for ciliary and flagellar beating essential to movement of extracellular fluids and of cells through fluid. Multisubunit outer dynein arm (ODA) motor complexes, produced and preassembled in the cytosol, are transported to the ciliary or flagellar compartment and anchored into the axonemal microtubular scaffold via the ODA docking complex (ODA-DC) system. In humans, defects in ODA assembly are the major cause of primary ciliary dyskinesia (PCD), an inherited disorder of ciliary and flagellar dysmotility characterized by chronic upper and lower respiratory infections and defects in laterality. Here, by combined high-throughput mapping and sequencing, we identified CCDC151 loss-of-function mutations in five affected individuals from three independent families whose cilia showed a complete loss of ODAs and severely impaired ciliary beating. Consistent with the laterality defects observed in these individuals, we found Ccdc151 expressed in vertebrate left-right organizers. Homozygous zebrafish ccdc151(ts272a) and mouse Ccdc151(Snbl) mutants display a spectrum of situs defects associated with complex heart defects. We demonstrate that CCDC151 encodes an axonemal coiled coil protein, mutations in which abolish assembly of CCDC151 into respiratory cilia and cause a failure in axonemal assembly of the ODA component DNAH5 and the ODA-DC-associated components CCDC114 and ARMC4. CCDC151-deficient zebrafish, planaria, and mice also display ciliary dysmotility accompanied by ODA loss. Furthermore, CCDC151 coimmunoprecipitates CCDC114 and thus appears to be a highly evolutionarily conserved ODA-DC-related protein involved in mediating assembly of both ODAs and their axonemal docking machinery onto ciliary microtubules.

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