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Published in PLoS genetics (01.04.2020)
Published in PLoS genetics (01.04.2020)
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Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling
Chaki, Moumita, Airik, Rannar, Ghosh, Amiya K., Giles, Rachel H., Chen, Rui, Slaats, Gisela G., Wang, Hui, Hurd, Toby W., Zhou, Weibin, Cluckey, Andrew, Gee, Heon Yung, Ramaswami, Gokul, Hong, Chen-Jei, Hamilton, Bruce A., Červenka, Igor, Ganji, Ranjani Sri, Bryja, Vitezslav, Arts, Heleen H., van Reeuwijk, Jeroen, Oud, Machteld M., Letteboer, Stef J.F., Roepman, Ronald, Husson, Hervé, Ibraghimov-Beskrovnaya, Oxana, Yasunaga, Takayuki, Walz, Gerd, Eley, Lorraine, Sayer, John A., Schermer, Bernhard, Liebau, Max C., Benzing, Thomas, Le Corre, Stephanie, Drummond, Iain, Janssen, Sabine, Allen, Susan J., Natarajan, Sivakumar, O’Toole, John F., Attanasio, Massimo, Saunier, Sophie, Antignac, Corinne, Koenekoop, Robert K., Ren, Huanan, Lopez, Irma, Nayir, Ahmet, Stoetzel, Corinne, Dollfus, Helene, Massoudi, Rustin, Gleeson, Joseph G., Andreoli, Sharon P., Doherty, Dan G., Lindstrad, Anna, Golzio, Christelle, Katsanis, Nicholas, Pape, Lars, Abboud, Emad B., Al-Rajhi, Ali A., Lewis, Richard A., Omran, Heymut, Lee, Eva Y.-H.P., Wang, Shaohui, Sekiguchi, JoAnn M., Saunders, Rudel, Johnson, Colin A., Garner, Elizabeth, Vanselow, Katja, Andersen, Jens S., Shlomai, Joseph, Nurnberg, Gudrun, Nurnberg, Peter, Levy, Shawn, Smogorzewska, Agata, Otto, Edgar A., Hildebrandt, Friedhelm
Published in Cell (03.08.2012)
Published in Cell (03.08.2012)
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Ciliary entry of the kinesin-2 motor KIF17 is regulated by importin-β2 and RanGTP
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
Published in Nature cell biology (01.07.2010)
Published in Nature cell biology (01.07.2010)
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Mutations in EMP2 Cause Childhood-Onset Nephrotic Syndrome
Gee, Heon Yung, Ashraf, Shazia, Wan, Xiaoyang, Vega-Warner, Virginia, Esteve-Rudd, Julian, Lovric, Svjetlana, Fang, Humphrey, Hurd, Toby W., Sadowski, Carolin E., Allen, Susan J., Otto, Edgar A., Korkmaz, Emine, Washburn, Joseph, Levy, Shawn, Williams, David S., Bakkaloglu, Sevcan A., Zolotnitskaya, Anna, Ozaltin, Fatih, Zhou, Weibin, Hildebrandt, Friedhelm
Published in American journal of human genetics (05.06.2014)
Published in American journal of human genetics (05.06.2014)
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Disease mechanisms of X-linked retinitis pigmentosa due to RP2 and RPGR mutations
Lyraki, Rodanthi, Megaw, Roly, Hurd, Toby
Published in Biochemical Society transactions (15.10.2016)
Published in Biochemical Society transactions (15.10.2016)
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Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia
Austin-Tse, Christina, Halbritter, Jan, Zariwala, Maimoona A., Gilberti, Renée M., Gee, Heon Yung, Hellman, Nathan, Pathak, Narendra, Liu, Yan, Panizzi, Jennifer R., Patel-King, Ramila S., Tritschler, Douglas, Bower, Raqual, O’Toole, Eileen, Porath, Jonathan D., Hurd, Toby W., Chaki, Moumita, Diaz, Katrina A., Kohl, Stefan, Lovric, Svjetlana, Hwang, Daw-Yang, Braun, Daniela A., Schueler, Markus, Airik, Rannar, Otto, Edgar A., Leigh, Margaret W., Noone, Peadar G., Carson, Johnny L., Davis, Stephanie D., Pittman, Jessica E., Ferkol, Thomas W., Atkinson, Jeffry J., Olivier, Kenneth N., Sagel, Scott D., Dell, Sharon D., Rosenfeld, Margaret, Milla, Carlos E., Loges, Niki T., Omran, Heymut, Porter, Mary E., King, Stephen M., Knowles, Michael R., Drummond, Iain A., Hildebrandt, Friedhelm
Published in American journal of human genetics (03.10.2013)
Published in American journal of human genetics (03.10.2013)
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ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling
Gee, Heon Yung, Saisawat, Pawaree, Ashraf, Shazia, Hurd, Toby W, Vega-Warner, Virginia, Fang, Humphrey, Beck, Bodo B, Gribouval, Olivier, Zhou, Weibin, Diaz, Katrina A, Natarajan, Sivakumar, Wiggins, Roger C, Lovric, Svjetlana, Chernin, Gil, Schoeb, Dominik S, Ovunc, Bugsu, Frishberg, Yaacov, Soliman, Neveen A, Fathy, Hanan M, Goebel, Heike, Hoefele, Julia, Weber, Lutz T, Innis, Jeffrey W, Faul, Christian, Han, Zhe, Washburn, Joseph, Antignac, Corinne, Levy, Shawn, Otto, Edgar A, Hildebrandt, Friedhelm
Published in The Journal of clinical investigation (01.08.2013)
Published in The Journal of clinical investigation (01.08.2013)
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Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with a Unique Clinical and Ciliary Phenotype
KNOWLES, Michael R, OSTROWSKI, Lawrence E, ROSENFELD, Margaret, FERKOL, Thomas W, DELL, Sharon D, MILLA, Carlos E, RANDELL, Scott H, WEINING YIN, SANNUTI, Aruna, METJIAN, Hilda M, NOONE, Peadar G, NOONE, Peter J, LEIGH, Margaret W, OLSON, Christina A, PATRONE, Michael V, HONG DANG, LEE, Hye-Seung, HURD, Toby W, HEON YUNG GEE, OTTO, Edgar A, HALBRITTER, Jan, KOHL, Stefan, KIRCHER, Martin, SEARS, Patrick R, KRISCHER, Jeffrey, BAMSHAD, Michael J, NICKERSON, Deborah A, HILDEBRANDT, Friedhelm, SHENDURE, Jay, ZARIWALA, Maimoona A, DAVIS, Stephanie D, WOLF, Whitney E, HAZUCHA, Milan J, CARSON, Johnny L, OLIVIER, Kenneth N, SAGEL, Scott D
Published in American journal of respiratory and critical care medicine (15.03.2014)
Published in American journal of respiratory and critical care medicine (15.03.2014)
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SDCCAG8 Interacts with RAB Effector Proteins RABEP2 and ERC1 and Is Required for Hedgehog Signaling
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
Published in PloS one (25.05.2016)
Published in PloS one (25.05.2016)
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Renal-retinal ciliopathy gene Sdccag8 regulates DNA damage response signaling
Airik, Rannar, Slaats, Gisela G, Guo, Zhi, Weiss, Anna-Carina, Khan, Naheed, Ghosh, Amiya, Hurd, Toby W, Bekker-Jensen, Simon, Schrøder, Jacob M, Elledge, Steve J, Andersen, Jens S, Kispert, Andreas, Castelli, Maddalena, Boletta, Alessandra, Giles, Rachel H, Hildebrandt, Friedhelm
Published in Journal of the American Society of Nephrology (01.11.2014)
Published in Journal of the American Society of Nephrology (01.11.2014)
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A fluorescent activatable probe for imaging intracellular Mg2
Treadwell, Ryan, de Moliner, Fabio, Subiros-Funosas, Ramon, Hurd, Toby, Knox, Kirsten, Vendrell, Marc
Published in Organic & biomolecular chemistry (01.01.2018)
Published in Organic & biomolecular chemistry (01.01.2018)
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Trafficking of Crumbs3 during cytokinesis is crucial for lumen formation
Schlüter, Marc A, Pfarr, Catherine S, Pieczynski, Jay, Whiteman, Eileen L, Hurd, Toby W, Fan, Shuling, Liu, Chia-Jen, Margolis, Ben
Published in Molecular biology of the cell (15.11.2009)
Published in Molecular biology of the cell (15.11.2009)
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ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6
Zariwala, Maimoona A., Gee, Heon Yung, Kurkowiak, Małgorzata, Al-Mutairi, Dalal A., Leigh, Margaret W., Hurd, Toby W., Hjeij, Rim, Dell, Sharon D., Chaki, Moumita, Dougherty, Gerard W., Adan, Mohamed, Spear, Philip C., Esteve-Rudd, Julian, Loges, Niki T., Rosenfeld, Margaret, Diaz, Katrina A., Olbrich, Heike, Wolf, Whitney E., Sheridan, Eamonn, Batten, Trevor F.C., Halbritter, Jan, Porath, Jonathan D., Kohl, Stefan, Lovric, Svjetlana, Hwang, Daw-Yang, Pittman, Jessica E., Burns, Kimberlie A., Ferkol, Thomas W., Sagel, Scott D., Olivier, Kenneth N., Morgan, Lucy C., Werner, Claudius, Raidt, Johanna, Pennekamp, Petra, Sun, Zhaoxia, Zhou, Weibin, Airik, Rannar, Natarajan, Sivakumar, Allen, Susan J., Amirav, Israel, Wieczorek, Dagmar, Landwehr, Kerstin, Nielsen, Kim, Schwerk, Nicolaus, Sertic, Jadranka, Köhler, Gabriele, Washburn, Joseph, Levy, Shawn, Fan, Shuling, Koerner-Rettberg, Cordula, Amselem, Serge, Williams, David S., Mitchell, Brian J., Drummond, Iain A., Otto, Edgar A., Omran, Heymut, Knowles, Michael R., Hildebrandt, Friedhelm
Published in American journal of human genetics (08.08.2013)
Published in American journal of human genetics (08.08.2013)
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Direct interaction of two polarity complexes implicated in epithelial tight junction assembly
Macara, Ian G, Margolis, Ben, Hurd, Toby W, Gao, Lin, Roh, Michael H
Published in Nature cell biology (01.02.2003)
Published in Nature cell biology (01.02.2003)
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Mutation of the Mg2+ Transporter SLC41A1 Results in a Nephronophthisis-Like Phenotype
HURD, Toby W, OTTO, Edgar A, WEIBIN ZHOU, YAMANE, Tsutomo, MURAKAMI, Satoshi, CARIDI, Gianluca, GHIGGERI, Gianmarco, ABE, Takaaki, HILDEBRANDT, Friedhelm, MISHIMA, Eikan, HEON YUNG GEE, INOUE, Hana, INAZU, Masato, YAMADA, Hideomi, HALBRITTER, Jan, SEKI, George, KONISHI, Masato
Published in Journal of the American Society of Nephrology (01.06.2013)
Published in Journal of the American Society of Nephrology (01.06.2013)
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