Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

Autor: Elizabeth Garner, Gokul Ramaswami, Sharon P. Andreoli, Colin A. Johnson, Stef J.F. Letteboer, Rudel A. Saunders, Stéphanie Le Corre, Heon Yung Gee, Agata Smogorzewska, Ali A. Al-Rajhi, Friedhelm Hildebrandt, Weibin Zhou, Dan G. Doherty, K. Vanselow, Gerd Walz, Joseph G. Gleeson, Bernhard Schermer, Rui Chen, Ranjani Sri Ganji, Peter Nürnberg, Christelle Golzio, Max C. Liebau, Anna Lindstrad, Moumita Chaki, Irma Lopez, Rachel H. Giles, Ronald Roepman, Shaohui Wang, John F. O’Toole, Takayuki Yasunaga, Nicholas Katsanis, Hélène Dollfus, Sivakumar Natarajan, Rannar Airik, Amiya K. Ghosh, Igor Cervenka, Hervé Husson, Heleen H. Arts, John A. Sayer, JoAnn Sekiguchi, Lars Pape, Gisela G. Slaats, Chen Jei Hong, Oxana Ibraghimov-Beskrovnaya, Hui Wang, Massimo Attanasio, Thomas Benzing, Edgar A. Otto, Gudrun Nürnberg, Iain A. Drummond, Emad B. Abboud, Vitezslav Bryja, Jeroen van Reeuwijk, Ahmet Nayir, Huanan Ren, Corinne Antignac, Joseph Shlomai, Robert K. Koenekoop, Lorraine Eley, Toby W. Hurd, Rustin Massoudi, Sophie Saunier, Sabine Janssen, Andrew Cluckey, Jens S. Andersen, Susan J. Allen, Eva Y.-H. P. Lee, Machteld M. Oud, Heymut Omran, Corinne Stoetzel, Bruce A. Hamilton, Richard A. Lewis, Shawn Levy

Publikováno v: Chaki, M, Airik, R, Ghosh, A K, Giles, R H, Chen, R, Slaats, G G, Wang, H, Hurd, T W, Zhou, W, Cluckey, A, Gee, H Y, Ramaswami, G, Hong, C-J, Hamilton, B A, Cervenka, I, Ganji, R S, Bryja, V, Arts, H H, van Reeuwijk, J, Oud, M M, Letteboer, S J F, Roepman, R, Husson, H, Ibraghimov-Beskrovnaya, O, Yasunaga, T, Walz, G, Eley, L, Sayer, J A, Schermer, B, Liebau, M C, Benzing, T, Le Corre, S, Drummond, I, Janssen, S, Allen, S J, Natarajan, S, O'Toole, J F, Attanasio, M, Saunier, S, Antignac, C, Koenekoop, R K, Ren, H, Lopez, I, Nayir, A, Stoetzel, C, Dollfus, H, Massoudi, R, Gleeson, J G, Andreoli, S P, Doherty, D G, Lindstrad, A, Golzio, C, Katsanis, N, Pape, L, Abboud, E B, Al-Rajhi, A A, Lewis, R A, Omran, H, Lee, E Y-H P, Wang, S, Sekiguchi, J M, Saunders, R, Johnson, C A, Garner, E, Vanselow, K, Andersen, J S, Shlomai, J, Nurnberg, G, Nurnberg, P, Levy, S, Smogorzewska, A, Otto, E A & Hildebrandt, F 2012, ' Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling ', Cell Stem Cell, vol. 150, no. 3, pp. 533-48 . https://doi.org/10.1016/j.cell.2012.06.028
Chaki, M, Airik, R, Ghosh, A K, Giles, R H, Chen, R, Slaats, G G, Wang, H, Hurd, T W, Zhou, W, Cluckey, A, Gee, H Y, Ramaswami, G, Hong, C-J, Hamilton, B A, Cervenka, I, Ganji, R S, Bryja, V, Arts, H H, van Reeuwijk, J, Oud, M M, Letteboer, S J F, Roepman, R, Husson, H, Ibraghimov-Beskrovnaya, O, Yasunaga, T, Walz, G, Eley, L, Sayer, J A, Schermer, B, Liebau, M C, Benzing, T, Le Corre, S, Drummond, I, Janssen, S, Allen, S J, Natarajan, S, O'Toole, J F, Attanasio, M, Saunier, S, Antignac, C, Koenekoop, R K, Ren, H, Lopez, I, Nayir, A, Stoetzel, C, Dollfus, H, Massoudi, R, Gleeson, J G, Andreoli, S P, Doherty, D G, Lindstrad, A, Golzio, C, Katsanis, N, Pape, L, Abboud, E B, Al-Rajhi, A A, Lewis, R A, Omran, H, Lee, E Y-H P, Wang, S, Sekiguchi, J M, Saunders, R, Johnson, C A, Garner, E, Vanselow, K, Andersen, J S, Shlomai, J, Nurnberg, G, Nurnberg, P, Levy, S, Smogorzewska, A, Otto, E A & Hildebrandt, F 2012, ' Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling ', Cell, vol. 150, no. 3, pp. 533-548 . https://doi.org/10.1016/j.cell.2012.06.028
Cell; Vol 150
Cell, 150, 533-48
Cell, 150, 3, pp. 533-48

Nephronophthisis-related ciliopathies (NPHP-RC) are degenerative recessive diseases that affect kidney, retina and brain. Genetic defects in NPHP gene products that localize to cilia and centrosomes defined them as ‘ciliopathies’. However, diseas

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