Publication: RPGR mutations might cause reduced orientation of respiratory cilia
RPGR mutations might cause reduced orientation of respiratory cilia
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Bukowy-Bieryllo, Z., Zietkiewicz, E., Loges, N. T., Wittmer, M., Geremek, M., Olbrich, H., Fliegauf, M., Voelkel, K., Rutkiewicz, E., Rutland, J., Morgan, L., Pogorzelski, A., Martin, J., Haan, E., Berger, W., Omran, H., & Witt, M. (2013). RPGR mutations might cause reduced orientation of respiratory cilia. Pediatric Pulmonology, 48, 352–363. https://doi.org/10.1002/ppul.22632
Abstract
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Abstract
RPGR gene encodes retinitis pigmentosa guanosine triphosphatase regulator protein, mutations of which cause 70% of the X-linked retinitis pigmentosa (XLRP) cases. Rarely, RPGR mutations can also cause primary ciliary dyskinesia (PCD), a multisystem disorder characterized by recurrent respiratory tract infections, sinusitis, bronchiectasis, and male subfertility. Two patients with PCD_RP and their relatives were analyzed using DNA sequencing, transmission electron microscopy (TEM), immunofluorescence (IF), photometry, and high-speed vi
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- Bukowy-Bieryllo, Zuzanna
- Loges, Niki Tomas
- Wittmer, Mariana
- Geremek, Maciej
- Olbrich, Heike
- Fliegauf, Manfred
- Voelkel, Katarzyna
- Rutkiewicz, Ewa
- Rutland, Jonathan
- Morgan, Lucy
- Pogorzelski, Adrzej
- Martin, James
- Haan, Eric
- Berger, Wolfgang
- Omran, Heymut
- Witt, Michal
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Bukowy-Bieryllo, Z., Zietkiewicz, E., Loges, N. T., Wittmer, M., Geremek, M., Olbrich, H., Fliegauf, M., Voelkel, K., Rutkiewicz, E., Rutland, J., Morgan, L., Pogorzelski, A., Martin, J., Haan, E., Berger, W., Omran, H., & Witt, M. (2013). RPGR mutations might cause reduced orientation of respiratory cilia. Pediatric Pulmonology, 48, 352–363. https://doi.org/10.1002/ppul.22632
