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Select item 97399381.

HeLa Cervical Cancer Cells Are Maintained by Nephronophthisis 3-Associated Primary Cilium Formation via ROS-Induced ERK and HIF-1α Activation under Serum-Deprived Normoxic Condition

Jae-Wook Lee, Jun-Yeong Cho, Pham Xuan Thuy, Eun-Yi Moon

Int J Mol Sci. 2022 Dec; 23(23): 14500. Published online 2022 Nov 22. doi: 10.3390/ijms232314500

PMCID:: PMC9739938

Abstract Article PDF–2.5M

Select item 84349712.

A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families

Eric Olinger, Intisar Al Alawi, Mohamed S. Al Riyami, Isa Al Salmi, Elisa Molinari, Eissa Ali Faqeih, Mohamed Al Hamed, Miguel Barroso-Gil, Laura Powell, Abdulrahman A. Al-Hussaini, Khawla A. Rahim, Naif Almontashiri, Colin Miles, Shirlee Shril, Friedhelm Hildebrandt, Genomics England Research Consortium, Ian J. Wilson, John A. Sayer

Hum Mutat. Author manuscript; available in PMC 2022 Oct 1.

Published in final edited form as: Hum Mutat. 2021 Oct; 42(10): 1221–1228. Published online 2021 Jul 26. doi: 10.1002/humu.24251

PMCID:: PMC8434971

Abstract Article PDF–421K

Select item 13601273.

Identification of a New Gene Locus for Adolescent Nephronophthisis, on Chromosome 3q22 in a Large Venezuelan Pedigree

Heymut Omran, Carmen Fernandez, Martin Jung, Karsten Häffner, Bernardo Fargier, Aminta Villaquiran, Rüdiger Waldherr, Norbert Gretz, Matthias Brandis, Franz Rüschendorf, André Reis, Friedhelm Hildebrandt

Am J Hum Genet. 2000 Jan; 66(1): 118–127. Published online 1999 Dec 21. doi: 10.1086/302705

PMCID:: PMC1360127

Abstract Article PDF–749K

Select item 64976664.

Thymosin β-4 is a novel regulator for primary cilium formation by nephronophthisis 3 in HeLa human cervical cancer cells

Jae-Wook Lee, Hong Sug Kim, Eun-Yi Moon

Sci Rep. 2019; 9: 6849. Published online 2019 May 2. doi: 10.1038/s41598-019-43235-1

PMCID:: PMC6497666

Abstract Article PDF–2.9M

Select item 27977275.

Identification of a Gene for Renal-Hepatic-Pancreatic Dysplasia by Microarray-Based Homozygosity Mapping

Torunn Fiskerstrand, Gunnar Houge, Staale Sund, David Scheie, Sabine Leh, Helge Boman, Per M. Knappskog

J Mol Diagn. 2010 Jan; 12(1): 125–131. doi: 10.2353/jmoldx.2010.090033

PMCID:: PMC2797727

Abstract Article PDF–1.2M

Select item 34749296.

Structural basis for Arl3-specific release of myristoylated ciliary cargo from UNC119

Shehab A Ismail, Yong-Xiang Chen, Mandy Miertzschke, Ingrid R Vetter, Carolin Koerner, Alfred Wittinghofer

EMBO J. 2012 Oct 17; 31(20): 4085–4094. Published online 2012 Sep 7. doi: 10.1038/emboj.2012.257

PMCID:: PMC3474929

Abstract Article PDF–1.6M

Select item 24272977.

Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia

Carsten Bergmann, Manfred Fliegauf, Nadina Ortiz Brüchle, Valeska Frank, Heike Olbrich, Jan Kirschner, Bernhard Schermer, Ingolf Schmedding, Andreas Kispert, Bettina Kränzlin, Gudrun Nürnberg, Christian Becker, Tiemo Grimm, Gundula Girschick, Sally A. Lynch, Peter Kelehan, Jan Senderek, Thomas J. Neuhaus, Thomas Stallmach, Hanswalter Zentgraf, Peter Nürnberg, Norbert Gretz, Cecilia Lo, Soeren Lienkamp, Tobias Schäfer, Gerd Walz, Thomas Benzing, Klaus Zerres, Heymut Omran

Am J Hum Genet. 2008 Apr 11; 82(4): 959–970. Published online 2008 Apr 4. doi: 10.1016/j.ajhg.2008.02.017

PMCID:: PMC2427297

Abstract Article PDF–1.7M

Select item 37862598.

ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3

Sylvia Hoff, Jan Halbritter, Daniel Epting, Valeska Frank, Thanh-Minh T. Nguyen, Jeroen van Reeuwijk, Christopher Boehlke, Christoph Schell, Takayuki Yasunaga, Martin Helmstädter, Miriam Mergen, Emilie Filhol, Karsten Boldt, Nicola Horn, Marius Ueffing, Edgar A. Otto, Tobias Eisenberger, Mariet W. Elting, Joanna A.E. van Wijk, Detlef Bockenhauer, Neil J. Sebire, Søren Rittig, Mogens Vyberg, Troels Ring, Martin Pohl, Lars Pape, Thomas J. Neuhaus, Neveen A. Soliman Elshakhs, Sarah J. Koon, Peter C. Harris, Florian Grahammer, Tobias B. Huber, E. Wolfgang Kuehn, Albrecht Kramer-Zucker, Hanno J. Bolz, Ronald Roepman, Sophie Saunier, Gerd Walz, Friedhelm Hildebrandt, Carsten Bergmann, Soeren S. Lienkamp

Nat Genet. Author manuscript; available in PMC 2014 Feb 1.

Published in final edited form as: Nat Genet. 2013 Aug; 45(8): 951–956. Published online 2013 Jun 23. doi: 10.1038/ng.2681

PMCID:: PMC3786259

Abstract Article PDF–1.1M

Select item 60261209.

Targeted deletion of the AAA-ATPase Ruvbl1 in mice disrupts ciliary integrity and causes renal disease and hydrocephalus

Claudia Dafinger, Markus M. Rinschen, Lori Borgal, Carolin Ehrenberg, Sander G. Basten, Mareike Franke, Martin Höhne, Manfred Rauh, Heike Göbel, Wilhelm Bloch, F. Thomas Wunderlich, Dorien J. M. Peters, Dirk Tasche, Tripti Mishra, Sandra Habbig, Jörg Dötsch, Roman-Ulrich Müller, Jens C. Brüning, Thorsten Persigehl, Rachel H. Giles, Thomas Benzing, Bernhard Schermer, Max C. Liebau

Exp Mol Med. 2018 Jun; 50(6): 1–17. Published online 2018 Jun 28. doi: 10.1038/s12276-018-0108-z

PMCID:: PMC6026120

Abstract Article PDF–2.8M

Select item 290417510.

Nephrocystin-3 is required for ciliary function in zebrafish embryos

Weibin Zhou, Julie Dai, Massimo Attanasio, Friedhelm Hildebrandt

Am J Physiol Renal Physiol. 2010 Jul; 299(1): F55–F62. Published online 2010 May 12. doi: 10.1152/ajprenal.00043.2010

PMCID:: PMC2904175

Abstract Article

Select item 343383511.

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

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

Cell. Author manuscript; available in PMC 2013 Feb 3.

Published in final edited form as: Cell. 2012 Aug 3; 150(3): 533–548. doi: 10.1016/j.cell.2012.06.028

PMCID:: PMC3433835

Abstract Article PDF–4.7M

Select item 391304312.

Mutation Analysis of 18 Nephronophthisis-associated Ciliopathy Disease Genes using a DNA Pooling and Next-Generation Sequencing Strategy

Edgar A. Otto, Gokul Ramaswami, Sabine Janssen, Moumita Chaki, Susan J. Allen, Weibin Zhou, Rannar Airik, Toby W. Hurd, Amiya K. Ghosh, Matthias T. Wolf, Bernd Hoppe, Thomas J. Neuhaus, Detlef Bockenhauer, David V. Milford, Neveen A. Soliman, the GPN Study Group, Corinne Antignac, Sophie Saunier, Colin A. Johnson, Friedhelm Hildebrandt

J Med Genet. Author manuscript; available in PMC 2014 Feb 4.

Published in final edited form as: J Med Genet. 2011 Feb; 48(2): 105–116. Published online 2010 Nov 10. doi: 10.1136/jmg.2010.082552

Correction in:: J Med Genet. 2015 Dec; 52(12): 866.

PMCID:: PMC3913043

Abstract Article PDF–3.0M

Select item 322290113.

An ARL3–UNC119–RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium

Kevin J. Wright, Lisa M. Baye, Anique Olivier-Mason, Saikat Mukhopadhyay, Liyun Sang, Mandy Kwong, Weiru Wang, Pamela R. Pretorius, Val C. Sheffield, Piali Sengupta, Diane C. Slusarski, Peter K. Jackson

Genes Dev. 2011 Nov 15; 25(22): 2347–2360. doi: 10.1101/gad.173443.111

PMCID:: PMC3222901

Abstract Article PDF–2.1M

Select item 314005514.

Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies

Cathy E. Elks, John R.B. Perry, Patrick Sulem, Daniel I. Chasman, Nora Franceschini, Chunyan He, Kathryn L. Lunetta, Jenny A. Visser, Enda M. Byrne, Diana L. Cousminer, Daniel F. Gudbjartsson, Tõnu Esko, Bjarke Feenstra, Jouke-Jan Hottenga, Daniel L. Koller, Zoltán Kutalik, Peng Lin, Massimo Mangino, Mara Marongiu, Patrick F. McArdle, Albert V. Smith, Lisette Stolk, Sophie W. van Wingerden, Jing Hua Zhao, Eva Albrecht, Tanguy Corre, Erik Ingelsson, Caroline Hayward, Patrik K.E. Magnusson, Erin N. Smith, Shelia Ulivi, Nicole M. Warrington, Lina Zgaga, Helen Alavere, Najaf Amin, Thor Aspelund, Stefania Bandinelli, Ines Barroso, Gerald S. Berenson, Sven Bergmann, Hannah Blackburn, Eric Boerwinkle, Julie E. Buring, Fabio Busonero, Harry Campbell, Stephen J. Chanock, Wei Chen, Marilyn C. Cornelis, David Couper, Andrea D. Coviello, Pio d’Adamo, Ulf de Faire, Eco J.C. de Geus, Panos Deloukas, Angela Döring, George Davey Smith, Douglas F. Easton, Gudny Eiriksdottir, Valur Emilsson, Johan Eriksson, Luigi Ferrucci, Aaron R. Folsom, Tatiana Foroud, Melissa Garcia, Paolo Gasparini, Frank Geller, Christian Gieger, The GIANT Consortium, Vilmundur Gudnason, Per Hall, Susan E. Hankinson, Liana Ferreli, Andrew C. Heath, Dena G. Hernandez, Albert Hofman, Frank B. Hu, Thomas Illig, Marjo-Riitta Järvelin, Andrew D. Johnson, David Karasik, Kay-Tee Khaw, Douglas P. Kiel, Tuomas O. Kilpeläinen, Ivana Kolcic, Peter Kraft, Lenore J. Launer, Joop S.E. Laven, Shengxu Li, Jianjun Liu, Daniel Levy, Nicholas G. Martin, Wendy L. McArdle, Mads Melbye, Vincent Mooser, Jeffrey C. Murray, Sarah S. Murray, Michael A. Nalls, Pau Navarro, Mari Nelis, Andrew R. Ness, Kate Northstone, Ben A. Oostra, Munro Peacock, Lyle J. Palmer, Aarno Palotie, Guillaume Paré, Alex N. Parker, Nancy L. Pedersen, Leena Peltonen, Craig E. Pennell, Paul Pharoah, Ozren Polasek, Andrew S. Plump, Anneli Pouta, Eleonora Porcu, Thorunn Rafnar, John P. Rice, Susan M. Ring, Fernando Rivadeneira, Igor Rudan, Cinzia Sala, Veikko Salomaa, Serena Sanna, David Schlessinger, Nicholas J. Schork, Angelo Scuteri, Ayellet V. Segrè, Alan R. Shuldiner, Nicole Soranzo, Ulla Sovio, Sathanur R. Srinivasan, David P. Strachan, Mar-Liis Tammesoo, Emmi Tikkanen, Daniela Toniolo, Kim Tsui, Laufey Tryggvadottir, Jonathon Tyrer, Manuela Uda, Rob M. van Dam, Joyve B.J. van Meurs, Peter Vollenweider, Gerard Waeber, Nicholas J. Wareham, Dawn M. Waterworth, Michael N. Weedon, H. Erich Wichmann, Gonneke Willemsen, James F. Wilson, Alan F. Wright, Lauren Young, Guangju Zhai, Wei Vivian Zhuang, Laura J. Bierut, Dorret I. Boomsma, Heather A. Boyd, Laura Crisponi, Ellen W. Demerath, Cornelia M. van Duijn, Michael J. Econs, Tamara B. Harris, David J. Hunter, Ruth J.F. Loos, Andres Metspalu, Grant W. Montgomery, Paul M. Ridker, Tim D. Spector, Elizabeth A. Streeten, Kari Stefansson, Unnur Thorsteinsdottir, André G. Uitterlinden, Elisabeth Widen, Joanne M. Murabito, Ken K. Ong, Anna Murray

Nat Genet. Author manuscript; available in PMC 2011 Dec 1.

Published in final edited form as: Nat Genet. 2010 Dec; 42(12): 1077–1085. doi: 10.1038/ng.714

PMCID:: PMC3140055

Abstract Article PDF–475K

Select item 320319315.

The SARS-Coronavirus-Host Interactome: Identification of Cyclophilins as Target for Pan-Coronavirus Inhibitors

Susanne Pfefferle, Julia Schöpf, Manfred Kögl, Caroline C. Friedel, Marcel A. Müller, Javier Carbajo-Lozoya, Thorsten Stellberger, Ekatarina von Dall’Armi, Petra Herzog, Stefan Kallies, Daniela Niemeyer, Vanessa Ditt, Thomas Kuri, Roland Züst, Ksenia Pumpor, Rolf Hilgenfeld, Frank Schwarz, Ralf Zimmer, Imke Steffen, Friedemann Weber, Volker Thiel, Georg Herrler, Heinz-Jürgen Thiel, Christel Schwegmann-Weßels, Stefan Pöhlmann, Jürgen Haas, Christian Drosten, Albrecht von Brunn

PLoS Pathog. 2011 Oct; 7(10): e1002331. Published online 2011 Oct 27. doi: 10.1371/journal.ppat.1002331

PMCID:: PMC3203193

Abstract Article PDF–1.7M

Select item 356197116.

Development and application of a DNA microarray-based yeast two-hybrid system

Bernhard Suter, Jean-Fred Fontaine, Reha Yildirimman, Tamás Raskó, Martin H. Schaefer, Axel Rasche, Pablo Porras, Blanca M. Vázquez-Álvarez, Jenny Russ, Kirstin Rau, Raphaele Foulle, Martina Zenkner, Kathrin Saar, Ralf Herwig, Miguel A. Andrade-Navarro, Erich E. Wanker

Nucleic Acids Res. 2013 Feb; 41(3): 1496–1507. Published online 2012 Dec 26. doi: 10.1093/nar/gks1329

PMCID:: PMC3561971

Abstract Article PDF–8.6M

Select item 262894617.

Global analysis of host-pathogen interactions that regulate early stage HIV-1 replication

Renate König, Yingyao Zhou, Daniel Elleder, Tracy L. Diamond, Ghislain M.C. Bonamy, Jeffrey T. Irelan, Chih-yuan Chiang, Buu P. Tu, Paul D. De Jesus, Caroline E. Lilley, Shannon Seidel, Amanda M. Opaluch, Jeremy S. Caldwell, Matthew D. Weitzman, Kelli L. Kuhen, Sourav Bandyopadhyay, Trey Ideker, Anthony P. Orth, Loren J. Miraglia, Frederic D. Bushman, John A. Young, Sumit K. Chanda

Cell. Author manuscript; available in PMC 2009 Oct 3.

Published in final edited form as: Cell. 2008 Oct 3; 135(1): 49–60. doi: 10.1016/j.cell.2008.07.032

PMCID:: PMC2628946

Abstract Article PDF–3.4M

Select item 361021418.

A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome

Gaëlle Blandin, Sylvie Marchand, Karine Charton, Nathalie Danièle, Evelyne Gicquel, Jean-Baptiste Boucheteil, Azéddine Bentaib, Laetitia Barrault, Daniel Stockholm, Marc Bartoli, Isabelle Richard

Skelet Muscle. 2013; 3: 3. Published online 2013 Feb 15. doi: 10.1186/2044-5040-3-3

PMCID:: PMC3610214

Abstract Article PDF–1.7M

Select item 607772219.

Estrogen-regulated feedback loop limits the efficacy of estrogen receptor–targeted breast cancer therapy

Tengfei Xiao, Wei Li, Xiaoqing Wang, Han Xu, Jixin Yang, Qiu Wu, Ying Huang, Joseph Geradts, Peng Jiang, Teng Fei, David Chi, Chongzhi Zang, Qi Liao, Jonathan Rennhack, Eran Andrechek, Nanlin Li, Simone Detre, Mitchell Dowsett, Rinath M. Jeselsohn, X. Shirley Liu, Myles Brown

Proc Natl Acad Sci U S A. 2018 Jul 31; 115(31): 7869–7878. Published online 2018 Jul 9. doi: 10.1073/pnas.1722617115

PMCID:: PMC6077722

Abstract Article PDF–2.4M

Select item 1094570720.

Comparative interactome analysis of α-arrestin families in human and Drosophila

Kyung-Tae Lee, Inez KA Pranoto, Soon-Young Kim, Hee-Joo Choi, Ngoc Bao To, Hansong Chae, Jeong-Yeon Lee, Jung-Eun Kim, Young V Kwon, Jin-Wu Nam

eLife. 2024; 12: RP88328. Published online 2024 Jan 25. doi: 10.7554/eLife.88328

PMCID:: PMC10945707

Abstract Article PDF–2.8M

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