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Select item 72020641.

Novel fibrillar structure in the inversin compartment of primary cilia revealed by 3D single-molecule superresolution microscopy

Henrietta W. Bennett, Anna-Karin Gustavsson, Camille A. Bayas, Petar N. Petrov, Nancie Mooney, W. E. Moerner, Peter K. Jackson

Mol Biol Cell. 2020 Mar 19; 31(7): 619–639. doi: 10.1091/mbc.E19-09-0499

PMCID:: PMC7202064

Abstract Article PDF–13M

Select item 14740322.

Breakpoint Cloning and Haplotype Analysis Indicate a Single Origin of the Common Inv(10)(p11.2q21.2) Mutation among Northern Europeans

Mette Gilling, Jörn S. Dullinger, Stefan Gesk, Simone Metzke-Heidemann, Reiner Siebert, Thomas Meyer, Karen Brondum-Nielsen, Niels Tommerup, Hans-Hilger Ropers, Zeynep Tümer, Vera M. Kalscheuer, N. Simon Thomas

Am J Hum Genet. 2006 May; 78(5): 878–883. Published online 2006 Mar 17. doi: 10.1086/503632

PMCID:: PMC1474032

Abstract Article PDF–164K

Select item 13775503.

A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping.

N B Haider, R Carmi, H Shalev, V C Sheffield, D Landau

Am J Hum Genet. 1998 Nov; 63(5): 1404–1410. doi: 10.1086/302108

PMCID:: PMC1377550

Summary PDF–452K

Select item 48830264.

Phosphorylation‐dependent Akt–Inversin interaction at the basal body of primary cilia

Futoshi Suizu, Noriyuki Hirata, Kohki Kimura, Tatsuma Edamura, Tsutomu Tanaka, Satoko Ishigaki, Thoria Donia, Hiroko Noguchi, Toshihiko Iwanaga, Masayuki Noguchi

EMBO J. 2016 Jun 15; 35(12): 1346–1363. Published online 2016 May 24. doi: 10.15252/embj.201593003

PMCID:: PMC4883026

Abstract Article PDF–4.3M

Select item 1241455.

Inversin Forms a Complex with Catenins and N-Cadherin in Polarized Epithelial Cells

Jens Nürnberger, Robert L. Bacallao, Carrie L. Phillips

Mol Biol Cell. 2002 Sep; 13(9): 3096–3106. doi: 10.1091/mbc.E02-04-0195

PMCID:: PMC124145

Abstract Article PDF–3.0M

Select item 46438346.

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy

Jan Halbritter, Jonathan D. Porath, Katrina A. Diaz, Daniela A. Braun, Stefan Kohl, Moumita Chaki, Susan J. Allen, Neveen A. Soliman, Friedhelm Hildebrandt, Edgar A. Otto

Hum Genet. Author manuscript; available in PMC 2015 Nov 13.

Published in final edited form as: Hum Genet. 2013 Aug; 132(8): 865–884. Published online 2013 Apr 5. doi: 10.1007/s00439-013-1297-0

PMCID:: PMC4643834

Abstract Article PDF–847K

Select item 29862217.

Nephronophthisis

Roslyn J Simms, Lorraine Eley, John A Sayer

Eur J Hum Genet. 2009 Apr; 17(4): 406–416. Published online 2008 Dec 10. doi: 10.1038/ejhg.2008.238

PMCID:: PMC2986221

Abstract Article PDF–298K

Select item 63388378.

Patched1–ArhGAP36–PKA–Inversin axis determines the ciliary translocation of Smoothened for Sonic Hedgehog pathway activation

Boyan Zhang, Tenghan Zhuang, Qiaoyu Lin, Biying Yang, Xiaowei Xu, Guangwei Xin, Shicong Zhu, Gang Wang, Bin Yu, Tingting Zhang, Qing Jiang, Chuanmao Zhang

Proc Natl Acad Sci U S A. 2019 Jan 15; 116(3): 874–879. Published online 2018 Dec 31. doi: 10.1073/pnas.1804042116

PMCID:: PMC6338837

Abstract Article PDF–1.4M

Select item 24272979.

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 373333310.

Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways

Matias Simons, Joachim Gloy, Athina Ganner, Axel Bullerkotte, Mikhail Bashkurov, Corinna Krönig, Bernhard Schermer, Thomas Benzing, Olga A Cabello, Andreas Jenny, Marek Mlodzik, Bozena Polok, Wolfgang Driever, Tomoko Obara, Gerd Walz

Nat Genet. Author manuscript; available in PMC 2013 Aug 5.

Published in final edited form as: Nat Genet. 2005 May; 37(5): 537–543. Published online 2005 Apr 24. doi: 10.1038/ng1552

PMCID:: PMC3733333

Abstract Article PDF–2.8M

Select item 373217511.

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

Edgar A Otto, Bernhard Schermer, Tomoko Obara, John F O'Toole, Karl S Hiller, Adelheid M Mueller, Rainer G Ruf, Julia Hoefele, Frank Beekmann, Daniel Landau, John W Foreman, Judith A Goodship, Tom Strachan, Andreas Kispert, Matthias T Wolf, Marie F Gagnadoux, Hubert Nivet, Corinne Antignac, Gerd Walz, Iain A Drummond, Thomas Benzing, Friedhelm Hildebrandt

Nat Genet. Author manuscript; available in PMC 2013 Aug 2.

Published in final edited form as: Nat Genet. 2003 Aug; 34(4): 413–420. doi: 10.1038/ng1217

PMCID:: PMC3732175

Abstract Article PDF–795K

Select item 378625912.

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 602612013.

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 343383514.

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 315529915.

Nephrocystins and MKS proteins interact with IFT particle and facilitate transport of selected ciliary cargos

Chengtian Zhao, Jarema Malicki

EMBO J. 2011 Jul 6; 30(13): 2532–2544. Published online 2011 May 20. doi: 10.1038/emboj.2011.165

PMCID:: PMC3155299

Abstract Article PDF–2.3M

Select item 391304316.

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 374004017.

Genome-wide association study of preeclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort

Linlu Zhao, Michael B. Bracken, Andrew T. DeWan

Ann Hum Genet. Author manuscript; available in PMC 2014 Jul 30.

Published in final edited form as: Ann Hum Genet. 2013 Jul; 77(4): 277–287. Published online 2013 Apr 2. doi: 10.1111/ahg.12021

PMCID:: PMC3740040

Abstract Article PDF–151K

Select item 273408118.

DNA sequence and analysis of human chromosome 9

S. J. Humphray, K. Oliver, A. R. Hunt, R. W. Plumb, J. E. Loveland, K. L. Howe, T. D. Andrews, S. Searle, S. E. Hunt, C. E. Scott, M. C. Jones, R. Ainscough, J. P. Almeida, K. D. Ambrose, R. I. S. Ashwell, A. K. Babbage, S. Babbage, C. L. Bagguley, J. Bailey, R. Banerjee, D. J. Barker, K. F. Barlow, K. Bates, H. Beasley, O. Beasley, C. P. Bird, S. Bray-Allen, A. J. Brown, J. Y. Brown, D. Burford, W. Burrill, J. Burton, C. Carder, N. P. Carter, J. C. Chapman, Y. Chen, G. Clarke, S. Y. Clark, C. M. Clee, S. Clegg, R. E. Collier, N. Corby, M. Crosier, A. T. Cummings, J. Davies, P. Dhami, M. Dunn, I. Dutta, L. W. Dyer, M. E. Earthrowl, L. Faulkner, C. J. Fleming, A. Frankish, J. A. Frankland, L. French, D. G. Fricker, P. Garner, J. Garnett, J. Ghori, J. G. R. Gilbert, C. Glison, D. V. Grafham, S. Gribble, C. Griffiths, S. Griffiths-Jones, R. Grocock, J. Guy, R. E. Hall, S. Hammond, J. L. Harley, E. S. I. Harrison, E. A. Hart, P. D. Heath, C. D. Henderson, B. L. Hopkins, P. J. Howard, P. J. Howden, E. Huckle, C. Johnson, D. Johnson, A. A. Joy, M. Kay, S. Keenan, J. K. Kershaw, A. M. Kimberley, A. King, A. Knights, G. K. Laird, C. Langford, S. Lawlor, D. A. Leongamornlert, M. Leversha, C. Lloyd, D. M. Lloyd, J. Lovell, S. Martin, M. Mashreghi-Mohammadi, L. Matthews, S. McLaren, K. E. McLay, A. McMurray, S. Milne, T. Nickerson, J. Nisbett, G. Nordsiek, A. V. Pearce, A. I. Peck, K. M. Porter, R. Pandian, S. Pelan, B. Phillimore, S. Povey, Y. Ramsey, V. Rand, M. Scharfe, H. K. Sehra, R. Shownkeen, S. K. Sims, C. D. Skuce, M. Smith, C. A. Steward, D. Swarbreck, N. Sycamore, J. Tester, A. Thorpe, A. Tracey, A. Tromans, D. W. Thomas, M. Wall, J. M. Wallis, A. P. West, S. L. Whitehead, D. L. Willey, S. A. Williams, L. Wilming, P. W. Wray, L. Young, J. L. Ashurst, A. Coulson, H. Blöcker, R. Durbin, J. E. Sulston, T. Hubbard, M. J. Jackson, D. R. Bentley, S. Beck, J. Rogers, I. Dunham

Nature. Author manuscript; available in PMC 2009 Aug 28.

Published in final edited form as: Nature. 2004 May 27; 429(6990): 369–374. doi: 10.1038/nature02465

PMCID:: PMC2734081

Abstract Article PDF–1006K

Select item 44214819.

Functional Proteomics Mapping of a Human Signaling Pathway

Frédéric Colland, Xavier Jacq, Virginie Trouplin, Christelle Mougin, Caroline Groizeleau, Alexandre Hamburger, Alain Meil, Jérôme Wojcik, Pierre Legrain, Jean-Michel Gauthier

Genome Res. 2004 Jul; 14(7): 1324–1332. doi: 10.1101/gr.2334104

PMCID:: PMC442148

Abstract Article PDF–290K

Select item 338306520.

Mapping the Nephronophthisis-Joubert-Meckel-Gruber Protein Network Reveals Ciliopathy Disease Genes and Pathways

Liyun Sang, Julie J. Miller, Kevin C. Corbit, Rachel H. Giles, Matthew J. Brauer, Edgar A. Otto, Lisa M. Baye, Xiaohui Wen, Suzie J. Scales, Mandy Kwong, Erik G. Huntzicker, Mindan K. Sfakianos, Wendy Sandoval, J. Fernando Bazan, Priya Kulkarni, Francesc R. Garcia-Gonzalo, Allen D. Seol, John F. O'Toole, Susanne Held, Heiko M. Reutter, William S. Lane, Muhammad Arshad Rafiq, Abdul Noor, Muhammad Ansar, Akella Radha Rama Devi, Val C. Sheffield, Diane C. Slusarski, John B. Vincent, Daniel A. Doherty, Friedhelm Hildebrandt, Jeremy F. Reiter, Peter K. Jackson

Cell. Author manuscript; available in PMC 2012 Jun 26.

Published in final edited form as: Cell. 2011 May 13; 145(4): 513–528. doi: 10.1016/j.cell.2011.04.019