The Molecular Network of YAP/Yorkie at the Cell Cortex and their Role in Ocular Morphogenesis

por Skouloudaki, Kassiani, Papadopoulos, Dimitrios K., Hurd, Toby W.
Publicado 2020

Functional Analysis of Retinitis Pigmentosa 2 (RP2) Protein Reveals Variable Pathogenic Potential of Disease-Associated Missense Variants

por Patil, Suresh B., Hurd, Toby W., Ghosh, Amiya K., Murga-Zamalloa, Carlos A., Khanna, Hemant
Publicado 2011

Deletion of TSPO Causes Dysregulation of Cholesterol Metabolism in Mouse Retina

por Farhan, Fahad, Almarhoun, Mohammad, Wong, Aileen, Findlay, Amy S., Bartholomew, Chris, Williams, Mark T. S., Hurd, Toby W., Shu, Xinhua
Publicado 2021

The nanophthalmos protein TMEM98 inhibits MYRF self-cleavage and is required for eye size specification

por Cross, Sally H., Mckie, Lisa, Hurd, Toby W., Riley, Sam, Wills, Jimi, Barnard, Alun R., Young, Fiona, MacLaren, Robert E., Jackson, Ian J.
Publicado 2020

SDCCAG8 Interacts with RAB Effector Proteins RABEP2 and ERC1 and Is Required for Hedgehog Signaling

por Airik, Rannar, Schueler, Markus, Airik, Merlin, Cho, Jang, Ulanowicz, Kelsey A., Porath, Jonathan D., Hurd, Toby W., Bekker-Jensen, Simon, Schrøder, Jacob M., Andersen, Jens S., Hildebrandt, Friedhelm
Publicado 2016

Induction of Ran GTP drives ciliogenesis

por Fan, Shuling, Whiteman, Eileen L., Hurd, Toby W., McIntyre, Jeremy C., Dishinger, John F., Liu, Chia Jen, Martens, Jeffrey R., Verhey, Kristen J., Sajjan, Uma, Margolis, Ben
Publicado 2011

Ciliary entry of the kinesin-2 motor KIF17 is regulated by importin-β2 and Ran-GTP

por Dishinger, John F., Kee, Hooi Lynn, Jenkins, Paul M., Fan, Shuling, Hurd, Toby W., Hammond, Jennetta W., Truong, Yen Nhu-Thi, Margolis, Ben, Martens, Jeffrey R., Verhey, Kristen J.
Publicado 2010

FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair

por Zhou, Weibin, Otto, Edgar A., Cluckey, Andrew, Airik, Rannar, Hurd, Toby W., Chaki, Moumita, Diaz, Katrina, Lach, Francis P., Bennett, Geoffrey R., Gee, Heon Y., Ghosh, Amiya K., Natarajan, Sivakumar, Thongthip, Supawat, Veturi, Uma, Allen, Susan J., Janssen, Sabine, Ramaswami, Gokul, Dixon, Joanne, Burkhalter, Felix, Spoendlin, Martin, Moch, Holger, Mihatsch, Michael J., Verine, Jerome, Reade, Richard, Soliman, Hany, Godin, Michel, Kiss, Denes, Monga, Guido, Mazzucco, Gianna, Amann, Kerstin, Artunc, Ferruh, Newland, Ronald C., Wiech, Thorsten, Zschiedrich, Stefan, Huber, Tobias B., Friedl, Andreas, Slaats, Gisela G., Joles, Jaap A., Goldschmeding, Roel, Washburn, Joseph, Giles, Rachel H., Levy, Shawn, Smogorzewska, Agata, Hildebrandt, Friedhelm
Publicado 2012

Whole exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies

por Gee, Heon Yung, Otto, Edgar A., Hurd, Toby W., Ashraf, Shazia, Chaki, Moumita, Cluckey, Andrew, Vega-Warner, Virginia, Saisawat, Pawaree, Diaz, Katrina A., Fang, Humphrey, Kohl, Stefan, Allen, Susan J., Airik, Rannar, Zhou, Weibin, Ramaswami, Gokul, Janssen, Sabine, Fu, Clementine, Innis, Jamie L., Weber, Stefanie, Vester, Udo, Davis, Erica E., Katsanis, Nicholas, Fathy, Hanan M., Jeck, Nikola, Klaus, Gunther, Nayir, Ahmet, Rahim, Khawla A., Attrach, Ibrahim Al, Hassoun, Ibrahim Al, Ozturk, Savas, Drozdz, Dorota, Helmchen, Udo, O’Toole, John F., Attanasio, Massimo, Nürnberg, Gudrun, Nürnberg, Peter, Washburn, Joseph, MacDonald, James, James, Jeffrey W., Levy, Shawn, Hildebrandt, Friedhelm
Publicado 2013

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

por Otto, Edgar A., Hurd, Toby W., Airik, Rannar, Chaki, Moumita, Zhou, Weibin, Stoetzel, Corinne, Patil, Suresh B., Levy, Shawn, Ghosh, Amiya K., Murga-Zamalloa, Carlos A., van Reeuwijk, Jeroen, Letteboer, Stef J.F., Sang, Liyun, Giles, Rachel H., Liu, Qin, Coene, Karlien L. M., Estrada-Cuzcano, Alejandro, Collin, Rob W. J., McLaughlin, Heather M., Held, Susanne, Kasanuki, Jennifer M., Ramaswami, Gokul, Conte, Jinny, Lopez, Irma, Washburn, Joseph, MacDonald, James, Hu, Jinghua, Yamashita, Yukiko, Maher, Eamonn R., Guay-Woodford, Lisa, Neumann, Hartmut P.H., Obermüller, Nicholas, Koenekoop, Robert K., Bergmann, Carsten, Bei, Xiaoshu, Lewis, Richard A., Katsanis, Nicholas, Lopes, Vanda, Williams, David S., Lyons, Robert H., Dang, Chi V., Brito, Daniela A., Dias, Mónica Bettencourt, Zhang, Xinmin, Nürnberg, Gudrun, Nürnberg, Peter, Pierce, Eric, Jackson, Peter, Antignac, Corinne, Saunier, Sophie, Roepman, Ronald, Dollfus, Helene, Khanna, Hemant, Hildebrandt, Friedhelm
Publicado 2010