Search Results - "OMRAN, Heymut"

Primary ciliary dyskinesia in the genomics age by Lucas, Jane S, Davis, Stephanie D, Omran, Heymut, Shoemark, Amelia

“…Primary ciliary dyskinesia is a genetically and clinically heterogeneous syndrome. Impaired function of motile cilia causes failure of mucociliary clearance…”
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Multicilin drives centriole biogenesis via E2f proteins by Ma, Lina, Quigley, Ian, Omran, Heymut, Kintner, Chris

“…Multiciliate cells employ hundreds of motile cilia to produce fluid flow, which they nucleate and extend by first assembling hundreds of centrioles. In most…”
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Current and Future Treatments in Primary Ciliary Dyskinesia by Paff, Tamara, Omran, Heymut, Nielsen, Kim G, Haarman, Eric G

“…Primary ciliary dyskinesia (PCD) is a rare genetic ciliopathy in which mucociliary clearance is disturbed by the abnormal motion of cilia or there is a severe…”
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Analysis of BRAF V600E mutation in 1,320 nervous system tumors reveals high mutation frequencies in pleomorphic xanthoastrocytoma, ganglioglioma and extra-cerebellar pilocytic astrocytoma by Schindler, Genevieve, Capper, David, Meyer, Jochen, Janzarik, Wibke, Omran, Heymut, Herold-Mende, Christel, Schmieder, Kirsten, Wesseling, Pieter, Mawrin, Christian, Hasselblatt, Martin, Louis, David N., Korshunov, Andrey, Pfister, Stefan, Hartmann, Christian, Paulus, Werner, Reifenberger, Guido, von Deimling, Andreas

“…Missense mutations of the V600E type constitute the vast majority of tumor-associated somatic alterations in the v-RAF murine sarcoma viral oncogene homolog B1…”
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Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility by 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

“…Axonemal protein complexes, such as outer (ODA) and inner (IDA) dynein arms, are responsible for the generation and regulation of flagellar and ciliary…”
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Mucociliary Wnt signaling promotes cilia biogenesis and beating by Seidl, Carina, Da Silva, Fabio, Zhang, Kaiqing, Wohlgemuth, Kai, Omran, Heymut, Niehrs, Christof

“…It is widely thought that Wnt/Lrp6 signaling proceeds through the cytoplasm and that motile cilia are signaling-inert nanomotors. Contrasting both views, we…”
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International consensus guideline for reporting transmission electron microscopy results in the diagnosis of primary ciliary dyskinesia (BEAT PCD TEM Criteria) by Shoemark, Amelia, Boon, Mieke, Brochhausen, Christoph, Bukowy-Bieryllo, Zuzanna, De Santi, Maria M, Goggin, Patricia, Griffin, Paul, Hegele, Richard G, Hirst, Robert A, Leigh, Margaret W, Lupton, Alison, MacKenney, Karen, Omran, Heymut, Pache, Jean-Claude, Pinto, Andreia, Reinholt, Finn P, Schroeder, Josep, Yiallouros, Panayotis, Escudier, Estelle

“…Primary ciliary dyskinesia (PCD) is a heterogeneous genetic condition. European and North American diagnostic guidelines recommend transmission electron…”
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Motility of efferent duct cilia aids passage of sperm cells through the male reproductive system by 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

“…Motile cilia line the efferent ducts of the mammalian male reproductive tract. Several recent mouse studies have demonstrated that a reduced generation of…”
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Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects by 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

“…Dysfunction of motile monocilia, altering the leftward flow at the embryonic node essential for determination of left-right body asymmetry, is a major cause of…”
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Consensus nomenclature for dyneins and associated assembly factors by Braschi, Bryony, Omran, Heymut, Witman, George B, Pazour, Gregory J, Pfister, K Kevin, Bruford, Elspeth A, King, Stephen M

“…Dyneins are highly complex, multicomponent, microtubule-based molecular motors. These enzymes are responsible for numerous motile behaviors in cytoplasm,…”
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Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia by RAIDT, Johanna, WALLMEIER, Julia, WERNER, Claudius, HJEIJ, Rim, ONNEBRINK, Jörg Grosse, PENNEKAMP, Petra, LOGES, Niki T, OLBRICH, Heike, HÄFFNER, Karsten, DOUGHERTY, Gerard W, OMRAN, Heymut

“…Primary ciliary dyskinesia (PCD) is a rare genetic disorder leading to recurrent respiratory tract infections. High-speed video-microscopy analysis (HVMA) of…”
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SPEF2- and HYDIN -Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics by Cindrić, Sandra, Dougherty, Gerard W, Olbrich, Heike, Hjeij, Rim, Loges, Niki Tomas, Amirav, Israel, Philipsen, Maria C, Marthin, June K, Nielsen, Kim G, Sutharsan, Sivagurunathan, Raidt, Johanna, Werner, Claudius, Pennekamp, Petra, Dworniczak, Bernd, Omran, Heymut

“…Primary ciliary dyskinesia (PCD) is a genetically heterogeneous chronic destructive airway disease. PCD is traditionally diagnosed by nasal nitric oxide…”
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Genetic defects in ciliary structure and function by Zariwala, Maimoona A, Knowles, Michael R, Omran, Heymut

“…Cilia, hair-like structures extending from the cell membrane, perform diverse biological functions. Primary (genetic) defects in the structure and function of…”
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The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans by Wirschell, Maureen, Olbrich, Heike, Werner, Claudius, Tritschler, Douglas, Bower, Raqual, Sale, Winfield S, Loges, Niki T, Pennekamp, Petra, Lindberg, Sven, Stenram, Unne, Carlén, Birgitta, Horak, Elisabeth, Köhler, Gabriele, Nürnberg, Peter, Nürnberg, Gudrun, Porter, Mary E, Omran, Heymut

“…Heymut Omran, Mary Porter and colleagues identify the nexin link–dynein regulatory complex subunit DRC1 from Chlamydomonas and show that mutations in the human…”
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Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex by 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

“…Multiciliated epithelial cells protect the upper and lower airways from chronic bacterial infections by moving mucus and debris outward. Congenital disorders…”
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Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis by 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, Oude Elberink, Marijn, 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.

“…Selenium-binding protein 1 (SELENBP1) has been associated with several cancers, although its exact role is unknown. We show that SELENBP1 is a methanethiol…”
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Ciliary function and motor protein composition of human fallopian tubes by Raidt, Johanna, Werner, Claudius, Menchen, Tabea, Dougherty, Gerard W., Olbrich, Heike, Loges, Niki T., Schmitz, Ralf, Pennekamp, Petra, Omran, Heymut

“…STUDY QUESTION What is the motor protein composition and function of human fallopian tube (FT) cilia? SUMMARY ANSWER Although the motor protein composition and…”
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A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance by Chivukula, Raghu R., Montoro, Daniel T., Leung, Hui Min, Yang, Jason, Shamseldin, Hanan E., Taylor, Martin S., Dougherty, Gerard W., Zariwala, Maimoona A., Carson, Johnny, Daniels, M. Leigh Anne, Sears, Patrick R., Black, Katharine E., Hariri, Lida P., Almogarri, Ibrahim, Frenkel, Evgeni M., Vinarsky, Vladimir, Omran, Heymut, Knowles, Michael R., Tearney, Guillermo J., Alkuraya, Fowzan S., Sabatini, David M.

“…Mucociliary clearance, the physiological process by which mammalian conducting airways expel pathogens and unwanted surface materials from the respiratory…”
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Cyclin O (Ccno) functions during deuterosome-mediated centriole amplification of multiciliated cells by Funk, Maja C, Bera, Agata N, Menchen, Tabea, Kuales, Georg, Thriene, Kerstin, Lienkamp, Soeren S, Dengjel, Jörn, Omran, Heymut, Frank, Marcus, Arnold, Sebastian J

“…Mucociliary clearance and fluid transport along epithelial surfaces are carried out by multiciliated cells (MCCs). Recently, human mutations in Cyclin O ( CCNO…”
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An international registry for primary ciliary dyskinesia by Werner, Claudius, Lablans, Martin, Ataian, Maximilian, Raidt, Johanna, Wallmeier, Julia, Große-Onnebrink, Jörg, Kuehni, Claudia E, Haarman, Eric G, Leigh, Margaret W, Quittner, Alexandra L, Lucas, Jane S, Hogg, Claire, Witt, Michal, Priftis, Kostas N, Yiallouros, Panayiotis, Nielsen, Kim G, Santamaria, Francesca, Ückert, Frank, Omran, Heymut

“…Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder leading to chronic upper and lower airway disease. Fundamental data on epidemiology,…”
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