Genetic inactivation of the Fanconi anemia gene FANCC identified in the hepatocellular carcinoma cell line HuH-7 confers sensitivity towards DNA-interstrand crosslinking agents

Autor: Bassermann Florian, De Toni Enrico N, Hanenberg Helmut, Thasler Wolfgang E, Meier Daniel, Rizzani Antonia, Ochs Stephanie, Denk Gerald U, Targosz Bianca-Sabrina, Ziesch Andreas, Plinninger Ursula, Neveling Kornelia, Palagyi Andreas, Schäfer Claus, Göke Burkhard, Schindler Detlev, Gallmeier Eike

Publikováno v: Molecular Cancer, Vol 9, Iss 1, p 127 (2010)

Abstract Background Inactivation of the Fanconi anemia (FA) pathway through defects in one of 13 FA genes occurs at low frequency in various solid cancer entities among the general population. As FA pathway inactivation confers a distinct hypersensit

Externí odkaz: https://doaj.org/article/4103240894fe4ec7af00b429a1fdf69a

Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence

Autor: Averdunk, Luisa, Huetzen, Maxim A., Moreno-Andrés, Daniel, Kalb, Reinhard, McKee, Shane, Hsieh, Tzung-Chien, Seibt, Annette, Schouwink, Marten, Lalani, Seema, Faqeih, Eissa Ali, Brunet, Theresa, Boor, Peter, Neveling, Kornelia, Hoischen, Alexander, Hildebrandt, Barbara, Graf, Elisabeth, Lu, Linchao, Jin, Weidong, Schaper, Joerg, Omer, Jamal A., Demaret, Tanguy, Fleischer, Nicole, Schindler, Detlev, Krawitz, Peter, Mayatepek, Ertan, Wieczorek, Dagmar, Wang, Lisa L., Antonin, Wolfram, Jachimowicz, Ron D., von Felbert, Verena, Distelmaier, Felix

Publikováno v: In Genetics in Medicine July 2023 25(7)

Lack of Sensitivity of Primary Fanconi's Anemia Fibroblasts to UV and Ionizing Radiation

Autor: Kalb, Reinhard, Duerr, Michael, Wagner, Matthias, Herterich, Sabine, Gross, Michaela, Digweed, Martin, Joenje, Hans, Hoehn, Holger, Schindler, Detlev

Publikováno v: Radiation Research, 2004 Mar 01. 161(3), 318-325.

Externí odkaz: https://www.jstor.org/stable/3581034

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List of Contributors

Autor: Abbott, M.A., Akamatsu, Wado, Akman, Hasan Orhan, AlHakeem, Afnan, Ali, Sheliza, AlMutiri, Rowim, Aoyama, Koji, Artuch, Rafael, Aumont-Rodrigue, Gabriel, Baril, Andrée-Ann, Barshop, Bruce A., Beck, Michael, Bennett, C. Frank, Berry, Gerard T., Boitnott, Andrea, Calame, Daniel G., Canine, Brenda, Casy, Widler, Chinnery, Patrick F., Chuang, David T., De Jager, Philip L., Demirbas, Didem, Desnick, Robert J., DiMauro, Salvatore, d’Azzo, A., Eichler, Florian S., Elmquist, Joel K., Emmanuele, Valentina, Engelen, Marc, Esteves, S., Evans, Patricia, Fogel, Brent L., Fremuth, L.E., Gallagher, J., García-Cazorla, Àngels, Garza, Irvin T., Glueck, Amanda C., Golla, Sailaja, Goodarzi, Mohammad, Goodspeed, Kimberly, Gray, Steven J., Gray-Edwards, H., Gropman, Andrea L., Guerrini, Renzo, Guldner, Ian H., Gunn, Teresa M., Haffner, Darrah, Hagerman, R.J., Harel, Tamar, Harp, Jordan P., Head, Elizabeth, Horvath, Rita, Ishii, Makoto, Ishiura, Hiroyuki, Jakkamsetti, Vikram, Jalazo, Elizabeth R., Khorkova, Olga, Kinoshita, Chisato, Kukull, Walter A., Lane, Roger, Latham, Stephen R., Leigh, M.J., Ling, Qinglan, Lupski, James R., Luzi, Paola, Ma, Qian, Maegawa, Gustavo H.B., Marin-Valencia, Isaac, Mastrianni, James A., Matalon, Dena R., Matalon, Kimberlee Michals, Matalon, Reuben, Mathews, Jennifer M., Megagiannis, Platon, Mehta, Nikita, Meltzer, Meira R., Mengel, Eugen, Mew, Nicholas Ah, Millar Vernetti, Patricio, Mitsui, Jun, Monteggia, Lisa M., Morris, Mary Ann, Moser, Hugo W., Murray, Melissa E., Nakaki, Toshio, Nishino, Ichizo, Noble, Denis, Nussbaum, Robert L., Nyhan, William L., Okano, Hideyuki, Parrini, Elena, Pascual, Juan M., Pastores, Gregory M., Patterson, Marc C., Piazza, Michelle K., Picard, Cynthia, Poirier, Judes, Pomerantz, Daniel J., Posey, Jennifer E., Raymond, Gerald V., Renthal, William, Rossignol, Francis, Rouleau, Guy A., Saez-Calveras, Nil, Sandhoff, Konrad, Schiffmann, Raphael, Schindler, Detlev, Schmitt, Frederick A., Schon, Eric A., Schuchman, Edward H., Seashore, Margretta Reed, Sena-Esteves, M., Shaffo, Frances C., Shevell, Michael, Shishodia, Gauri, Sinnett, Sarah E., Srour, Myriam, Stevens, Hannah A., Sugie, Kazuma, Taylor, Alexa, Tedeschi Dauar, Marina, Thinwa, Josephine, Tifft, C., Tsuji, Shoji, Uhlmann, Wendy R., Van Pelt, Kathryn L., Vemuri, Prashanthi, Vernino, Steven, Wahlestedt, Claes, Wang, Bruce, Weesner, J.A., Wenger, David A., Williams, Kevin W., Wolf, Nicole I., Wolfe, John H., Wynn, R. Max, Wyss-Coray, Tony, Yingling, N., Zhou, Yang

Publikováno v: In Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, Seventh Edition Edition: Seventh Edition. 2025:xix-xxiii