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2. Stable long-term outcomes after cochlear implantation in subjects with TMPRSS3 associated hearing loss: a retrospective multicentre study.
- Author
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Fehrmann, M. L. A., Huinck, W. J., Thijssen, M. E. G., Haer-Wigman, L., Yntema, H. G., Rotteveel, L. J. C., Widdershoven, J. C. C., Goderie, T., van Dooren, M. F., Hoefsloot, E. H., van der Schroeff, M. P., Mylanus, E. A. M., Kant, S. G., de Gier, H. H. W., Ropers, F. G., Kriek, M., Aten, E., Hof, J. R., Hellingman, K., and Vernimmen, V.
- Subjects
COCHLEAR implants ,SPEECH perception ,RESEARCH ,AGE distribution ,SENSORINEURAL hearing loss ,SENSORY ganglia ,RETROSPECTIVE studies ,TREATMENT effectiveness ,GENE expression ,GENOTYPES ,PHONETICS ,DESCRIPTIVE statistics ,RESEARCH funding ,MEMBRANE proteins - Abstract
Background: The spiral ganglion hypothesis suggests that pathogenic variants in genes preferentially expressed in the spiral ganglion nerves (SGN), may lead to poor cochlear implant (CI) performance. It was long thought that TMPRSS3 was particularly expressed in the SGNs. However, this is not in line with recent reviews evaluating CI performance in subjects with TMPRSS3-associated sensorineural hearing loss (SNHL) reporting overall beneficial outcomes. These outcomes are, however, based on variable follow-up times of, in general, 1 year or less. Therefore, we aimed to 1. evaluate long-term outcomes after CI implantation of speech recognition in quiet in subjects with TMPRSS3-associated SNHL, and 2. test the spiral ganglion hypothesis using the TMPRSS3-group. Methods: This retrospective, multicentre study evaluated long-term CI performance in a Dutch population with TMPRSS3-associated SNHL. The phoneme scores at 70 dB with CI in the TMPRSS3-group were compared to a control group of fully genotyped cochlear implant users with post-lingual SNHL without genes affecting the SGN, or severe anatomical inner ear malformations. CI-recipients with a phoneme score ≤ 70% at least 1-year post-implantation were considered poor performers and were evaluated in more detail. Results: The TMPRSS3 group consisted of 29 subjects (N = 33 ears), and the control group of 62 subjects (N = 67 ears). For the TMPRSS3-group, we found an average phoneme score of 89% after 5 years, which remained stable up to 10 years post-implantation. At both 5 and 10-year follow-up, no difference was found in speech recognition in quiet between both groups (p = 0.830 and p = 0.987, respectively). Despite these overall adequate CI outcomes, six CI recipients had a phoneme score of ≤ 70% and were considered poor performers. The latter was observed in subjects with residual hearing post-implantation or older age at implantation. Conclusion: Subjects with TMPRSS3-associated SNHL have adequate and stable long-term outcomes after cochlear implantation, equal to the performance of genotyped patient with affected genes not expressed in the SGN. These findings are not in line with the spiral ganglion hypothesis. However, more recent studies showed that TMPRSS3 is mainly expressed in the hair cells with only limited SGN expression. Therefore, we cannot confirm nor refute the spiral ganglion hypothesis. [ABSTRACT FROM AUTHOR]
- Published
- 2023
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3. ESICM LIVES 2016: part two: Milan, Italy. 1–5 October 2016
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Sivakumar, S., Taccone, F. S., Desai, K. A., Lazaridis, C., Skarzynski, M., Sekhon, M., Henderson, W., Griesdale, D., Chapple, L., Deane, A., Williams, L., Strickland, R., Lange, K., Heyland, D., Chapman, M., Rowland, M. J., Garry, P., Westbrook, J., Corkill, R., Antoniades, C. A., Pattinson, K. T., Fatania, G., Strong, A. J., Myers, R. B., Lazaridis, C., Jermaine, C. M., Robertson, C. S., Rusin, C. G., Hofmeijer, J., Sondag, L., Tjepkema-Cloostermans, M. C., Beishuizen, A., Bosch, F. H., van Putten, M. J. A. M., Carteron, L., Patet, C., Solari, D., Oddo, M., Ali, M. A., Dias, C., Almeida, R., Vaz-Ferreira, A., Silva, J., Monteiro, E., Cerejo, A., Rocha, A. P., Elsayed, A. A., Abougabal, A. M., Beshey, B. N., Alzahaby, K. M., Pozzebon, S., Ortiz, A. Blandino, Cristallini, S., Lheureux, O., Brasseur, A., Vincent, J. L., Creteur, J., Taccone, F. S., Hravnak, M., Yousef, K., Chang, Y., Crago, E., Friedlander, R. M., Abdelmonem, S. A., Tahon, S. A., Helmy, T. A., Meligy, H. S., Puig, F., Dunn-Siegrist, I., Pugin, J., Gupta, S., Govil, D., Srinivasan, S., Patel, S. J., N, J. K., Gupta, A., Tomar, D. S., Shafi, M., Harne, R., Arora, D. P., Talwar, N., Mazumdar, S., Papakrivou, E. E., Makris, D., Manoulakas, E., Tsolaki, B., Karadodas, B., Zakynthinos, E., Garcia, I. Palacios, Martin, A. Diaz, Encinares, V. Sanchez, Ibañez, M. Pachón, Montero, J. Garnacho, Labrador, G., Cangueiro, T. Cebrero, Poulose, V., Koh, J., Kam, J. W., Yeter, H., Kara, A., Aktepe, O., Topeli, A., Tsolakoglou, I., Intas, G., Stergiannis, P., Kolaros, A. A., Chalari, E., Athanasiadou, E., Martika, A., Fildisis, G., Faivre, V., Mengelle, C., Favier, B., Payen, D., Poppe, A., Winkler, M. S., Mudersbach, E., Schreiber, J., Wruck, M. L., Schwedhelm, E., Kluge, S., Zöllner, C., Tavladaki, T., Spanaki, A. M., Dimitriou, H., Kondili, E., Choulaki, C., Meleti, E., Kafetzopoulos, D., Georgopoulos, D., Briassoulis, G., la Torre, A. García-de, de la Torre-Prados, M. V., Tsvetanova-Spasova, T., Nuevo-Ortega, P., Rueda-Molina, C., Fernández-Porcel, A., Camara-Sola, E., Salido-Díaz, L., García-Alcántara, A., Tavladaki, T., Spanaki, A. M., Dimitriou, H., Kondili, E., Choulaki, C., Meleti, D. E., Kafetzopoulos, D., Georgopoulos, D., Briassoulis, G., Suberviola, B., Riera, J., Rellan, L., Sanchez, M., Robles, J. C., Lopez, E., Vicente, R., Miñambres, E., Santibañez, M., Le Guen, M., Moore, J., Mason, N., Windpassinger, M., Plattner, O., Mascha, E., Sessler, D. I., Research, Outcomes, Melia, U., Fontanet, J., van den Berg, J. P., Struys, M. M. R. F., Vereecke, H. E. M., Jensen, E. W., Rood, P. J. T., van de Schoor, F., van Tertholen, K., Pickkers, P., van den Boogaard, M., Beardow, Z. J., Redhead, H., Paramasivam, K., Numan, T., van den Boogaard, M., Kamper, A. M., Rood, P., Peelen, L. M., Zeman, P. M., Slooter, A. J., van Ewijk, C. E., Jacobs, G. E., Girbes, A. R. J., Myatra, S. N., Harish, M. M., Prabu, N. R., Siddiqui, S., Kulkarni, A. P., Divatia, J. V., Murbach, L. D., Leite, M. A., Osaku, E. F., Costa, C. R. L. M., Pelenz, M., Neitzke, N. M., Moraes, M. M., Jaskowiak, J. L., Silva, M. M. M., Zaponi, R. S., Abentroth, L. R. L., Ogasawara, S. M., Jorge, A. C., Duarte, P. A. D., Hernández-Sánchez, N., Sánchez-Hurtado, L. A., García-Guillen, F. J., Ñamendys-Silva, S. A., Maghsoudi, B., Emami, M., Khosravi, M. B., Zand, F., Tabatabaie, H. R., Masjedi, M., Sabetiyan, G., Mokri, A., Troubleyn, J., Diltoer, M., Jacobs, R., Nguyen, D. N., De Waele, E., De Regt, J., Honoré, P. M., Van Gorp, V., Spapen, H. D., Contreras, R. S., Toapanta, N. D., Moreno, G., Sabater, J., Torrado, H., Gonzalez, M., Marin, M., Farigola, E., Gonzalez, A., Fernandez, J., Vera, A., Gisbert, X., Juliá, C., Uya, J., Corral, L., Elias-Jones, I., Gemmell, L., MacKay, A., Randall, D., Adwaney, A., Blunden, M., Prowle, J. R., Kirwan, C. 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L., Anguel, N., Beurton, A., Bezaz, N., Richard, C., Monnet, X., Fossali, T., Colombo, R., Ottolina, D., Rossetti, M., Mazzucco, C., Marchi, A., Porta, A., Catena, E., Tollisen, K. H., Andersen, G. Ø., Heyerdahl, F., Jacobsen, D., de Waard, M. C., Girbes, A. R. J., van IJzendoorn, M. C. O., Buter, H., Kingma, W. P., Navis, G. J., Boerma, E. C., Rulisek, J., Balik, M., Zacharov, S., Kim, H. S., Jeon, S. J., Namgung, H., Lee, E., Lee, E., Cho, Y. J., Lee, Y. J., Huang, A., Cioccari, L., Luethi, N., Mårtensson, J., Bellomo, R., Forsberg, M., Edman, G., Höjer, J., Forsberg, S., Freile, M. T. Chiquito, Hidalgo, F. N., Molina, J. A. Martinez, Lecumberri, R., Rosselló, A. Figuerola, Travieso, P. Medrano, Leon, G. Tuero, Sanchez, J. Gonzalez, Frias, L. Sahuquillo, Rosello, D. Balsells, Verdejo, J. A. Garcia, Serrano, J. A. Noria, Winterwerp, D., van Galen, T., Vazin, A., Karimzade, I., Zand, A., Ozen, E., Ekemen, S., Akcan, A., Sen, E., Yelken, B. Buyukkidan, Kureshi, N., Fenerty, L., Thibault-Halman, G., Erdogan, M., Walling, S., Green, R. S., Clarke, D. B., Briassoulis, P., Kalimeris, K., Ntzouvani, A., Nomikos, T., Papaparaskeva, K., Politi, E., Kostopanagiotou, G., Crewdson, K., Rehn, M., Weaver, A., Brohi, K., Lockey, D., Wright, S., Thomas, K., Baker, C., Mansfield, L., Stafford, V., Wade, C., Watson, G., Bryant, A., Chadwick, T., Shen, J., Wilkinson, J., Furneval, J., Henderson, A., Hugill, K., Howard, P., Roy, A., Bonner, S., Baudouin, S., Ramírez, C. Sánchez, Escalada, S. Hípola, Viera, M. A. Hernández, Santana, M. Cabrera, Balcázar, L. Caipe, Monroy, N. Sangil, Campelo, F. Artiles, Vázquez, C. F. Lübbe, Santana, P. Saavedra, Santana, S. 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I., Altaba, S., Llamas, N., Goligher, E C., Fan, E., Herridge, M., Vorona, S., Sklar, M., Dres, M., Rittayamai, N., Lanys, A., Urrea, C., Tomlinson, G., Reid, W. D., Rubenfeld, G. D., Kavanagh, B. P., Brochard, L. J., Ferguson, N. D., Neto, A. Serpa, de Abreu, M. Gama, Pelosi, P., Schultz, M. J., Guérin, C., Papazian, L., Reignier, J., Ayzac, L., Loundou, A., Forel, J. M., Rolland-Debord, C., Bureau, C., Poitou, T., Clavel, M., Perbet, S., Terzi, N., Kouatchet, A., Similowski, T., Demoule, A., Hunfeld, N., Trogrlic, Z., Ladage, S., Osse, R. J., Koch, B., Rietdijk, W., Devlin, J., van der Jagt, M., Picetti, E., Ceccarelli, P., Mensi, F., Malchiodi, L., Risolo, S., Rossi, I., Antonini, M. V., Servadei, F., Caspani, M. L., Roquilly, A., Lasocki, S., Seguin, P., Geeraerts, T., Perrigault, P. F., Dahyot-Fizelier, C., Paugam-Burtz, C., Cook, F., Cinotti, R., dit Latte, D. Demeure, Mahe, P. 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F., Garcia, I. Palacios, Martin, A. Diaz, Marqués, M. Gil, Moreno, A. Puppo, Pizarraya, A. Gutierrez, Diaz, J. Pachón, Ibañez, M. Pachón, Smani, Y., Connell, M. Mc, Zhang, L. A., Parker, R. S., Banerjee, I., Clermont, G., Norberg, E., Oras, J., Cuisinier, A., Maufrais, C., Payen, J. F., Nottin, S., Walther, G., Bouzat, P., Arib, S., Bilotta, F., Badenes, R., Rubulotta, F., Mirek, S., Crippa, I. A., Monfort, B., Stazi, E., Roig, A. Lozano, Creteur, J., Taccone, F. S., Magnoni, S., Marando, M., Pifferi, S., Conte, V., Ortolano, F., Carbonara, M., Bertani, G., Scola, E., Cadioli, M., Triulzi, F., Colombo, A., Stocchetti, N., Rotzel, H. B., Lázaro, A. Serrano, Prada, D. Aguillón, Guimillo, M. Rodriguez, Piqueras, C. Sanchís, Guia, J. Romero, Simon, M. García, Arizmendi, A. Mesejo, Carratalá, A., El Maraghi, S., Yehia, A., Bakry, M., Shoman, A., Backes, F. N., Bianchin, M. M., Vieira, S. R. R., de Souza, A., Backes, A. N., Klein, C., Kalaiselvan, M. S., Renuka, M. K., Arunkumar, A. S., Lozano, A., Lheureux, O., Badenes, R., Vincent, J. L., Creteur, J., Taccone, F. S., Gallaher, C., Cattlin, S., Gordon, S., Picard, J., Fontana, V., Bond, O., Nobile, L., Vincent, J. L., Creteur, J., Taccone, F. S., Mrozek, S., Delamarre, L., Capilla, F., Al-Saati, T., Fourcade, O., Geeraerts, T., Dominguez-Berrot, A. M., Gonzalez-Vaquero, M., Vallejo-Pascual, M. E., Gupta, D., Ivory, B. D., Chopra, M., McCarthy, J., Felderhof, C. L., MacNeil, C., Rubulotta, F., Waldauf, P., Maggiorini, M., Duska, F., Fumis, R. R. L., Junior, J. M. Vieira, Amarante, G., Skorko, A., Sanders, S., Aron, J., Kroll, R. J., Redfearn, C., Krishnan, P., Khalil, J. E., Kovari, F., Kongpolprom, N., Gulia, V., Lourenço, E., Melão, L., Duro, C., Baptista, G., Alves, A., Arminda, B., Rodrigues, M., Marreiros, A., Granja, C., Hayward, J., Baldwin, F., Gray, R., Katinakis, P. A., Stijf, M., Ten Kleij, M., Jansen-Frederiks, M., Broek, R., de Bruijne, M., Spronk, P. E., Sinha, K., Luney, M., Palmer, K., Keating, L., Abu-Habsa, M., Bahl, R., Baskaralingam, N., Ahmad, A., Kanapeckaite, L., Bhatti, P., Glace, S., Jeyabraba, S., Lewis, H. F., Kostopoulos, A., Raja, M., West, A., Ely, A., Turkoglu, L. M., Zolfaghari, P., Baptista, J. P., Marques, M. P., Martins, P., Pimentel, J., Gupta, D., Su, Y. C., Villacres, S., Stone, M. E., Parsikia, A., Medar, S., O’Dea, K. P., Porter, J., Tirlapur, N., Jonathan, J. M., Singh, S., Takata, M., Abu-Habsa, M., Ahmad, A., McWhirter, E., Lyon, R., Hariz, M. L., Azmi, E., Alkhan, J., Honeybul, S., Movsisyan, V., Petrikov, S., Marutyan, Z., Aliev, I., Evdokimov, A., Antonucci, E., Merz, T., Hartmann, C., Pelosi, P., Calzia, E., Radermacher, P., Nußbaum, B., Hartmann, C., Huber-Lang, M., Gröger, M., Radermacher, P., Nußbaum, B., Nußbaum, B., Antonucci, E., Calzia, E., Pelosi, P., Radermacher, P., Hartmann, C., Svoren-Jabalera, E., Davenport, E. E., Humburg, P., Knight, J., Hinds, C. J., Jun, I. J., Kim, W. J., Lee, E. H., Besch, G., Perrotti, A., Puyraveau, M., Carteron, L., Baltres, M., Samain, E., Chocron, S., Pili-Floury, S., Plata-Menchaca, E. P., Sabater-Riera, J., Estruch, M., Boza, E., Sbraga, F., Toscana-Fernández, J., Bruguera-Pellicer, E., Ordoñez-Llanos, J., Pérez-Fernández, X. L., Cavaleiro, P., Tralhão, A., Arrigo, M., Lopes, J.-P., Lebrun, M., Cholley, B., PerezVela, J. L., MarinMateos, H., Rivera, J. J. Jimenez, Llorente, M. A. Alcala, De Marcos, B. Gonzalez, Fernandez, F. J. Gonzalez, Laborda, C. Garcia, Zamora, D. Fernandez, Delgado, J. C. Lopez, Imperiali, C., Berbel-Franco, D., Dastis, M., Moreno-Gonzalez, G., Perez-Sanchez, J., Romera-Peregrina, I., Abellan-Lencina, R., Martinez-Pascual, A., Fuentes-Mila, V., Gonzalez-Romero, M., Górka, J., Górka, K., Iwaniec, T., Frołow, M., Polok, K., Fronczek, J., Kózka, M., Musiał, J., Szczeklik, W., Pérez, A. González, Ordoñez, P. Florez, Giribet, A., Cuervo, M. A. Alonso, Cuervo, R. Alonso, Esteban, M. A. Rodriguez, Fraile, L. Iglesias, Mittelbrum, C. Ponte, Albaiceta, G. Muñiz, Ampatzidou, F., Sileli, M., Kehagioglou, G., Madesis, A., Karaiskos, T., Moursia, C., Maleoglou, H., Leleki, K., Drossos, G., Uz, Z., Ince, Y., Papatella, R., Bulent, E., Guerci, P., Ince, C., De Mol, B., Vicka, V., Gineityte, D., Ringaitiene, D., Norkiene, I., Sipylaite, J., Möller, C., Fleischmann, C., Thomas-Rueddel, D. O., Vlasakov, V., Rochwerg, B., Theurer, P., Gattinoni, L., Reinhart, K., Hartog, C. S., Pérez, A. González, Al Sibai, J. Zanabili, Camblor, P. Martinez, Fernandez, P. Alvarez, Gala, J. M. García, Guisasola, J. Silba, Albaiceta, G. Muñiz, Tamura, T., Yatabe, T., Miyajima, I., Yamashita, K., Yokoyama, M., Ampatzidou, F., Kehagioglou, G., Dalampini, E., Nastou, M., Baddour, A., Ignatiadis, A., Asteri, T., Drossos, G., Hathorn, K. E., Purtle, S. W., Horkan, C. M., Gibbons, F. K., Christopher, K. B., Viana, M. V., Tonietto, T. A., Gross, L. A., Costa, V. L., Tavares, A. L. J., Lisboa, B. O., Moraes, R. B., Vieira, S. R., Viana, L. V., Azevedo, M. J., Ceniccola, G. D., Pequeno, R. S. F., Holanda, T. P., Mendonça, V. S., Araújo, W. M. C., Carvalho, L. S. F., Segaran, E., Vickers, L., Brinchmann, K., Wignall, I., Rubulotta, F., De Brito-Ashurst, I., del Olmo, R., Esteban, M. J., Vaquerizo, C., Carreño, R., Gálvez, V., Kaminsky, G., Nieto, B., Fuentes, M., De la Torre, M. A., Torres, E., Alonso, A., Velayos, C., Saldaña, T., Escribá, A., GRIP, J., Kölegård, R., Sundblad, P., Rooyackers, O., Naser, Ben, Jaziri, F., Jazia, A. Ben, Barghouth, M., Hentati, O., Skouri, W., El Euch, M., Mahfoudhi, M., Turki, S., Abdelghni, K. Ben, Abdallah, Ben, Maha, B. N. M., Cánovas, J., Sotos, F., López, A., Lorente, M., Burruezo, A., Torres, D., Polok, K., Włudarczyk, A., Górka, J., Hałek, A., Musiał, J., Szczeklik, W., Jazia, A. Ben, Jaziri, F., Bargouth, M., Bennasr, M., Turki, S., Abdelghani, K. Ben, Abdallah, T. Ben, de Grooth, H. J., Geenen, I. L., Parienti, J. J., Straaten, H. M. Oudemans-van, Shum, H. P., King, H. S., Chan, K. C., Yan, W. W., Londoño, J. Gonzalez, Cardenas, C. Lorencio, Pedrosa, M. Morales, Gubianas, C. Murcia, Bertolin, C. Fuster, Batllori, N. Vila, Sirvent, J. M., Wykes, K., Jack, J., Morgan, P., Mukhopadhyay, A., Chan, H. Y., Kowitlawakul, Y., Remani, D., Leong, C. S. F., Henry, C. J., Puthucheary, Z. A., Mendsaikhan, N., Begzjav, T., Lundeg, G., Dünser, M., Espinoza, E. D. Valenzuela, Welsh, S. P., Motta, M. F., Guerra, E., Zerpa, M. C. l., Zechner, F., Furche, M., Berdaguer, F., Birri, P. N. Rubatto, Risso-Vazquez, A., Dubin, A., Masevicius, F. D., Greaney, D., Magee, A., Fitzpatrick, G., Lugo-Cob, R. G., Sánchez-Hurtado, L. A., Arvizu-Tachiquín, P. C., Tejeda-Huezo, B. C., Cano-Oviedo, A. A., Baltazar-Torres, J. A., Aydogan, M. S., Togal, T., Taha, A., Chai, H. Z., Kam, C., Razali, S. S. Yang, Sivasamy, V., Kuan, L. Y., Poulose, V., Morales, M. A. Lopez, Castro, S., Pires, T., Melão, L., Krystopchuk, A., Pereira, I., Granja, C., Taniguchi, L. U., Pires, E. M. C., Vieira, Jr, J. M., Azevedo, L. C. P., Nurses of the Central and General ICUs of Shiraz Namazi Hospital, Sedation an Delirium Group Hospital Universitari de Bellvitge, SPACeR group (Surrey Peri-operative, Anaesthesia and Critical Care Collaborative Research Group), for the PRoVENT investigators and the PROVE Network, SEMICYUC/GETGAG Working Group, TAVeM study group, POPC-CB investigators, DESIRE (DExmedetomidine for Sepsis in ICU Randomized Evaluation) Trial Investigators, GEMINI, Bioethics work group of SEMICYUC, The FINNAKI Study Group, Queen Square Neuroanaesthesia and Neurocritical Care Resreach Group, Renal Transplantation HUVR, GEMINI, EDISVAL Group, EDISVAL Group, PLUG Working group, TAVeM study Group, The FINNAKI Study Group, on behalf of Department of Professional Development, ESICM, Critical Care Research Group, SIRAKI group, and Grupo ESBAGA
- Published
- 2016
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4. Outcomes after resection and/or radiofrequency ablation for recurrence after treatment of colorectal liver metastases
- Author
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Hof, J., Wertenbroek, M. W. J. L. A. E., Peeters, P. M. J. G., Widder, J., Sieders, E., and de Jong, K. P.
- Published
- 2016
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- View/download PDF
5. Prognostic value of genetic alterations in children with first bone marrow relapse of childhood B-cell precursor acute lymphoblastic leukemia
- Author
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Krentz, S, Hof, J, Mendioroz, A, Vaggopoulou, R, Dörge, P, Lottaz, C, Engelmann, J C, Groeneveld, T W L, Körner, G, Seeger, K, Hagemeier, C, Henze, G, Eckert, C, von Stackelberg, A, and Kirschner-Schwabe, R
- Published
- 2013
- Full Text
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6. Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.
- Author
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Smits, Jeroen J., de Bruijn, Suzanne E., Lanting, Cornelis P., Oostrik, Jaap, O'Gorman, Luke, Mantere, Tuomo, DOOFNL Consortium, van Dooren, M. F., Kant, S. G., de Gier, H. H. W., Hoefsloot, E. H., van der Schroeff, M. P., Rotteveel, L. J. C., Ropers, F. G., Widdershoven, J. C. C., Hof, J. R., Vanhoutte, E. K., Feenstra, I., Kremer, H., and Lanting, C. P.
- Subjects
HAPLOTYPES ,SINGLE nucleotide polymorphisms ,HEARING disorders ,WHOLE genome sequencing ,AQUEDUCTS ,HERITABILITY - Abstract
Pathogenic variants in SLC26A4 have been associated with autosomal recessive hearing loss (arHL) and a unilateral or bilateral enlarged vestibular aqueduct (EVA). SLC26A4 is the second most frequently mutated gene in arHL. Despite the strong genotype–phenotype correlation, a significant part of cases remains genetically unresolved. In this study, we investigated a cohort of 28 Dutch index cases diagnosed with HL in combination with an EVA but without (M0) or with a single (M1) pathogenic variant in SLC26A4. To explore the missing heritability, we first determined the presence of the previously described EVA-associated haplotype (Caucasian EVA (CEVA)), characterized by 12 single nucleotide variants located upstream of SLC26A4. We found this haplotype and a delimited V1-CEVA haplotype to be significantly enriched in our M1 patient cohort (10/16 cases). The CEVA haplotype was also present in two M0 cases (2/12). Short- and long-read whole genome sequencing and optical genome mapping could not prioritize any of the variants present within the CEVA haplotype as the likely pathogenic defect. Short-read whole-genome sequencing of the six M1 cases without this haplotype and the two M0/CEVA cases only revealed previously overlooked or misinterpreted splice-altering SLC26A4 variants in two cases, who are now genetically explained. No deep-intronic or structural variants were identified in any of the M1 subjects. With this study, we have provided important insights that will pave the way for elucidating the missing heritability in M0 and M1 SLC26A4 cases. For pinpointing the pathogenic effect of the CEVA haplotype, additional analyses are required addressing defect(s) at the RNA, protein, or epigenetic level. [ABSTRACT FROM AUTHOR]
- Published
- 2022
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7. Enhanced tumor therapy using vaccinia virus strain GLV-1h68 in combination with a β-galactosidase-activatable prodrug seco-analog of duocarmycin SA
- Author
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Seubert, C M, Stritzker, J, Hess, M, Donat, U, Sturm, J B, Chen, N, von Hof, J M, Krewer, B, Tietze, L F, Gentschev, I, and Szalay, A A
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- 2011
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8. Production functions for large-scale forest and range condition indicators
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Hof, J., Davies, S., and Baltic, T.
- Subjects
Spatial analysis (Statistics) -- Research ,Production functions (Economics) -- Research ,Social sciences - Abstract
A spatial statistics method called 'kriging' was utilized to estimate production functions for environmental outputs from forest and rangelands at the national level. The method aims to establish a consistent data series for all variables through the use of the grid approach. 'Kriging' of data into a uniform grid of observations has resulted to improved explanatory power.
- Published
- 1998
9. B cell expression as prognostic biomarker after surgery for colorectal liver metastases
- Author
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De Jong, K., Hof, J., Visser, L., Hoppener, D., Nierop, P., Terpstra, M., Gouw, A., Grünhagen, D., Verhoef, C., Sijmons, R., and Kok, K.
- Published
- 2020
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10. Een inventarislijst van de abdij van Egmond anno 1570
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HOF, J.
- Published
- 1970
11. An Undergraduate Laboratory in Magnetic Recording Fundamentals
- Author
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Van't Hof, J. P., Bain, James A., White, Robert M., and Zhu, Jian-Gang
- Subjects
Magnetic recorders and recording -- Study and teaching ,Business ,Education ,Electronics ,Electronics and electrical industries - Abstract
An undergraduate course in data storage systems has recently been augmented with several laboratory experiments designed to enrich the students' understanding of magnetic hysteresis, magnetic sensors, and storage systems. In this paper, the three devices that have been designed for such experiments will be described. Each device is conceptually simple and is easily replicated using inexpensive, off-the-shelf electronics. One device demonstrates the concept of magnetic hysteresis, displaying for students the hysteresis loop, including minor loops, of a toroid. A second device contrasts inductive and magnetoresistive readback techniques, illustrates the effects of velocity on each type of sensor, and shows the need for bias in magnetoresistive sensing to obtain a linear readback response. The last device, a modified version of the well-known audiotape recorder, provides a hands-on implementation of a simple magnetic recording system. Students can write, read, and analyze data to view the effects of frequency roll-off and write-saturation, and parameters such as [PW.sub.50] and [D.sub.50]. Using a variety of tape materials in the collection of the experimental data, students can compare the properties of varying types of media. Index Terms--Magnetic hysteresis, magnetic recording, magnetic sensors, magnetoresistance, undergraduate laboratory.
- Published
- 2001
12. Extrachromosomal DNA of pea-root (Pisum sativum) has repeated sequences and ribosomal genes
- Author
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Kraszewska, E. K., Bjerknes, C. A., Lamm, S. S., and Van 't Hof, J.
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- 1985
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13. 18 μm replication units of chromosomal DNA fibers of differentiated cells of Pea (Pisum sativum)
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Hof, J. Van't and Bjerknes, C. A.
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- 1977
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14. Replicon properties of chromosomal DNA fibers and the duration of DNA synthesis of sunflower root-tip meristem cells at different temperatures
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Van't Hof, J., Bjerknes, C. A., and Clinton, J. H.
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- 1978
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15. Detection of replication initiation by a replicon family in DNA of synchronized pea (Pisum sativum) root cells using benzoylated naphthoylated DEAE-cellulose chromatography
- Author
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Van't Hof, J., Lamm, S. S., and Bjerknes, C. A.
- Published
- 1987
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16. The size and number of replicon families of chromosomal DNA of Arabidopsis thaliana
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Hof, J. Van't, Kuniyuki, A., and Bjerknes, C. A.
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- 1978
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17. Proximity of an ARS consensus sequence to a replication origin of pea (Pisum sativum)
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Hernández, P., Bjerknes, C. A., Lamm, S. S., and van't Hof, J.
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- 1988
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18. Replication of the rRNA and legumin genes in synchronized root cells of pea (Pisum sativum): evidence for transient EcoR I sites in replicating rRNA genes
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Hof, J. Van't, Hernandez, P., Bjerknes, C. A., Kraszewska, E. K., and Lamm, S. S.
- Published
- 1987
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19. Location of the replication origin in the 9-kb repeat size class of rDNA in pea (Pisum sativum)
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Van't Hof, J., Hernández, P., Bjerknes, C. A., and Lamm, S. S.
- Published
- 1987
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20. Percutaneous bone‐anchored hearing system implant survival after 550 primary implant surgeries.
- Author
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Calon, T. G. A., van Tongeren, J., Heuft, A. M. E., Brunings, J. W., Bollen, D., Hof, J. R., and Stokroos, R. J.
- Subjects
ARTIFICIAL implants ,RELIABILITY of artificial implants ,OPERATIVE surgery ,OSSEOINTEGRATION ,SMOKING ,SAFETY - Abstract
The article reports on the survival of Bone-Anchored Hearing System (BAHS) implant after several primary implant surgeries. Topics mentioned include the quality of BAHS, the effects of osseointegration to BAHS, and the safety measures for BAHS. Also mentioned are the implant loss rates, the risk factors for implant loss, and the effects of smoking to implant survival.
- Published
- 2018
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21. Untersuchungen von Proteinpolymorphismen an einer Familie mit gehäuften Chromosomenaberrationen
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Ritter, H., Engel, W., Op't Hof, J., and Wolf, U.
- Published
- 1969
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22. Studies on isozymes of sorbitol dehydrogenase in some vertebrate species
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Op't Hof, J., Wolf, U., and Krone, W.
- Published
- 1969
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23. Genduplikation durch polyploide Evolution: die Isoenzyme der Sorbitdehydrogenase bei herings- und lachsartigen Fischen (Isospondyli)
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Engel, W., Hof, J. Op't, and Wolf, U.
- Published
- 1970
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24. Zur genetik der 6-Phosphogluconatdehydrogenase (EC:1.1.1.44) bei Säugern: I. Untersuchungen an 6 species der familie Microtinae, Rodetia. Isoenzympolymorphismen und familienbefunde bei Microtus oeconomus und Microtus ochrogaster
- Author
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Engel, W., Bender, K., Kadir, S., Op't Hof, J., and Wolf, U.
- Published
- 1970
- Full Text
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25. Studies on the control of mitotic activity: the effect of respiratory inhibitors on mitotic cycle time in the root meristem of Pisum sativum
- Author
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Van't Hof, J. and Wilson, G. B.
- Published
- 1962
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26. Studies on the control of mitotic activity: The use of colchicine in the tagging of a synchronous population of cells in the meristem of Pisum sativum
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Van't Hof, J., Wilson, G. B., and Colon, Astrid
- Published
- 1960
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27. III. Keramohalit von Tenerifa
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Hof, J.
- Published
- 1891
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28. 77 - DNA and RNA analysis of intratumour heterogeneity in metastatic clear cell renal cell carcinoma
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Ferronika, P., Hof, J., Kats-Ugurlu, G., Terpstra, M., De Lange, K., Leliveld-Kors, A., Sijmons, R.H., and Kok, K.
- Published
- 2017
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29. Bestimmungen der Milchsäuredehydraseaktivität im Blutserum verschiedener Organe, vor allem der Milz bei Rindern
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Hof, J. and Woller, I.
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- 1956
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30. Zur Genetik der 6-Phosphogluconatdehydrogenase (EC 1.1.1.44) bei Säugern: II. Untersuchungen an vier species der Ungulata. Isoenzympolymorphismen bei pferd und schwein
- Author
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Bender, K., Hof, J. Op't, and Engel, W.
- Published
- 1970
- Full Text
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31. Über den Einfluss pathologischer Blutseren auf die Bienengifthämolyse
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Gastpar, H., Hof, J., and Seitz, W.
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- 1955
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32. Zur Genetik der 6-Phosphogluconatdehydrogenase (EC: 1.1.1.44): Eine neue Variante F (Freiburg)
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Tariverdian, G., Ropers, H., Op't Hof, J., and Ritter, H.
- Published
- 1970
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33. Chromosomal DNA replication in higher plants
- Author
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Hof, J. Van't and Bjerknes, C.A.
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Plant cytogenetics -- Research ,Eukaryotic cells -- Research ,Autoradiography -- Research - Published
- 1979
34. Repeat procedures for recurrent disease after surgical treatment of colorectal liver metastases. A prominent role for thermoablation
- Author
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Hof, J., Sieders, G., Peeters, P.M.J.G., Widder, J., and De Jong, K.P.
- Published
- 2016
- Full Text
- View/download PDF
35. Zur Frage der Zuordnung von Loci: II. Lokalisierungsausschlüsse bei Defizienzen 5p
- Author
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Engel, W., Op't Hof, J., Ritter, H., and Wolf, U.
- Published
- 1968
- Full Text
- View/download PDF
36. Zur Populationsgenetik der 6-Phosphogluconatdehydrogenasen (EC: 1.1.1.44): Genhäufigkeit in einer südwestdeutschen Stichprobe
- Author
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Op't Hof, J., Wolf, U., and Ritter, H.
- Published
- 1968
- Full Text
- View/download PDF
37. Isoenzymes and population genetics of sorbit dehydrogenase (EC: 1.1.1.14) in swine (sus scrofa)
- Author
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Op't Hof, J.
- Published
- 1969
- Full Text
- View/download PDF
38. Correction to: Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.
- Author
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Smits, Jeroen J., de Bruijn, Suzanne E., Lanting, Cornelis P., Oostrik, Jaap, O'Gorman, Luke, Mantere, Tuomo, DOOFNL Consortium, van Dooren, M. F., Kant, S. G., de Gier, H. H. W., Hoefsloot, E. H., van der Schroeff, M. P., Rotteveel, L. J. C., Ropers, F. G., Widdershoven, J. C. C., Hof, J. R., Vanhoutte, E. K., Feenstra, I., Kremer, H., and Lanting, C. P.
- Subjects
HEARING disorders ,AQUEDUCTS ,HUMAN genetics ,ACADEMIC medical centers - Abstract
Correction to: Human Genetics https://doi.org/10.1007/s00439-021-02336-6 In the original article published, the affiliation of the 3rd author Cornelis P. Lanting is published incorrectly. Hearing and Genes, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands The original article has been corrected. [Extracted from the article]
- Published
- 2022
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39. Immunohistochemical localization of 15-hydroxyprostaglandin dehydrogenase (PGDH) in bovine placenta and uterine wall during gestation
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von Hof, J., Sprekeler, N., Kowalewski, M.P., and Boos, A.
- Published
- 2013
- Full Text
- View/download PDF
40. A Concise, Stereocontrolled Total Synthesis of Rippertenol.
- Author
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Scott A. Snyder, Wespe, Daniel A., and von Hof, J. Marian
- Published
- 2011
- Full Text
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41. Atropisomerism of Aromatic Carbamates.
- Author
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Tietze, Lutz F., Schuster, Heiko J., von Hof, J. Marian, Hampel, Sonja M., Colunga, Juan F., and John, Michael
- Published
- 2010
- Full Text
- View/download PDF
42. Glycosidische Prodrugs hochpotenter difunktioneller Duocarmycin-Derivate für eine selektive Tumortherapie.
- Author
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Tietze, Lutz F., von Hof, J. Marian, Müller, Michael, Krewer, Birgit, and Schuberth, Ingrid
- Published
- 2010
- Full Text
- View/download PDF
43. Glycosidic Prodrugs of Highly Potent Bifunctional Duocarmycin Derivatives for Selective Treatment of Cancer.
- Author
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Tietze, Lutz F., von Hof, J. Marian, Müller, Michael, Krewer, Birgit, and Schuberth, Ingrid
- Published
- 2010
- Full Text
- View/download PDF
44. Synthesis of the first spacer containing prodrug of a duocarmycin analogue and determination of its biological activity.
- Author
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Schuster, Heiko J., Krewer, Birgit, Marian^von Hof, J., Schmuck, Kianga, Schuberth, Ingrid, Alves, Frauke, and Tietze, Lutz F.
- Published
- 2010
- Full Text
- View/download PDF
45. Determination of the Biological Activity and Structure Activity Relationships of Drugs Based on the Highly Cytotoxic Duocarmycins and CC-1065.
- Author
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Tietze, Lutz F., Krewer, Birgit, Hof, J. Marian von, Frauendorf, Holm, and Schuberth, Ingrid
- Published
- 2009
- Full Text
- View/download PDF
46. Asymmetric Synthesis and Biological Evaluation of Glycosidic Prodrugs for a Selective Cancer Therapy.
- Author
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Tietze, Lutz F., von Hof, J. Marian, Krewer, Birgit, Müller, Michael, Major, Felix, Schuster, Heiko J., Schuberth, Ingrid, and Alves, Frauke
- Published
- 2008
- Full Text
- View/download PDF
47. Otoacoustic emissions at compensated middle ear pressure in children.
- Author
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Hof, J. R., Anteunis, L. J. C., Chenault, M. N., and van Dijk, P.
- Subjects
- *
OTOACOUSTIC emissions , *EAR , *AMPLITUDE modulation - Abstract
Middle ear pathology has a negative effect on the detectability of otoacoustic emissions. In this study, we investigated the effect of compensating a deviant static middle ear pressure while measuring transient evoked otoacoustic emissions (TEOAEs). In 59 children (mean age 4 years, 5 months) TEOAEs were measured twice in one session: first at ambient pressure and than at compensated middle ear pressure. On average, TEOAE amplitudes increased by 1.9 dB as a result of middle ear pressure compensation. The amplitude increase was largest in frequency bands centred at 1 and 2 kHz and a statistically significant correlation was found between the amount of compensated pressure and the TEOAE amplitude increase. In the higher frequency bands centred at 3 and 4 kHz, TEOAE amplitudes were almost insensitive to pressure compensation. These results show that measuring OAEs at compensated middle ear pressure enhances the amplitude of TEOAEs, and thus improves the detectability. [ABSTRACT FROM AUTHOR]
- Published
- 2005
- Full Text
- View/download PDF
48. Cotton Fiber Cells Are Arrested at G1 Stage.
- Author
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Saha, Sukumar and Hof, J. Vant
- Subjects
COTTON ,CELL proliferation ,PLANT reproduction ,CELL division ,CELLULAR control mechanisms ,DNA replication ,PLANT fibers ,GENES ,NUCLEIC acids - Abstract
Regulation of cell-cycle genes during the very early stages of cotton (Gossypium hirsutum L.) fiber development triggers specific epidermal cells in the ovule to stop cell division and then elongate into fiber cells. This characteristic is especially unique since the other ovule epidermal cells surrounding the cotton fiber cell undergo continuous division like all other cells in the plants as the ovule matures. Very little information is available on the controlling mechanism of cell-cycle phase in cotton fiber cells. The objective of this study was to identify the cell-cycle phase in which cotton fiber cells are arrested before beginning elongation and the different cellular mechanisms that may control the initial phases of fiber development. We exploited the recent discovery that fiber cells can divide to determine the cell-cycle stage at which fiber cell elongation occurs. If elongation begins when the cell is in the G1 phase of the cell cycle, treatment with an inhibitor of DNA replication would prevent cell division and reduce the frequency of multi-celled fibers. On the other hand, if elongation begins from the G2 phase after the completion of DNA replication during S phase of the cell cycle, multicelled fibers still would be produced. The 5-aminouracil (5-AU), an inhibitor of DNA replication, added to ovule culture medium, was used to identify the cell-cycle phase in which the developing fiber cells were arrested. Our results demonstrated that cotton fiber cells were arrested at the G1 stage. We also found that there were two types of fiber cells, one with a round tip and the other with a pointed tip, at the initial stage of initiation. The unique pattern of cell wall formation resulting in multicellular fiber demonstrated that an ovule epidermal cell regulates the morphogenesis or polarity in fiber at a very early stage of development by controlling cell wall formation only perpendicular to the long axis of the fiber. We did not observe branched fibers from ovules grown under any condition (in vitro or in vivo). The lack of branched fibers indicated polarized fiber growth was fixed. The results indirectly confirmed the regulation of polarity in fiber by specific patterns ofwall formation during cytokinesis. In this case, the cell wall formation only occurs perpendicular to the growth axis, thus, controlling the polarity of the developing fiber cell. We also observed that, unlike many other dividing cells, cell division and cell elongation in multicellular fiber were not directly related because division was not initiated after cells reached a certain critical size. [ABSTRACT FROM PUBLISHER]
- Published
- 2005
- Full Text
- View/download PDF
49. Isolation and characterisation of the cDNA encoding a glycosylated accessory protein of pea chloroplast DNA polymerase.
- Author
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Gaikwad, Amos, Tewari, Krishna K., Kumar, Dhirendra, Chen, Weiliang, Mukherjee, Sunil Kumar, Hubscher, U., Onrust, R., Dekker, J., Hernandez, T.R., Williams, A.J., Weiliang, C., Burton, S.K., Hernandez, P., Van’t Hof, J., Kobata, A., Lis, H., Showalter, A.M., Kieliszewski, M.J., Kreuger, M., and Chen, C.-G.
- Published
- 1999
- Full Text
- View/download PDF
50. Positive Linear Observers for Linear Compartmental Systems
- Author
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van den Hof, J. M.
- Published
- 1998
- Full Text
- View/download PDF
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