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Select item 101540231.

Inactivation of Invs/Nphp2 in renal epithelial cells drives infantile nephronophthisis like phenotypes in mouse

Yuanyuan Li, Wenyan Xu, Svetlana Makova, Martina Brueckner, Zhaoxia Sun

eLife. 2023; 12: e82395. Published online 2023 Mar 15. doi: 10.7554/eLife.82395

PMCID:: PMC10154023

Abstract Article PDF–4.6M

Select item 37321752.

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 34032313.

Ciliogenesis in Caenorhabditis elegans requires genetic interactions between ciliary middle segment localized NPHP-2 (inversin) and transition zone-associated proteins

Simon R. F. Warburton-Pitt, Andrew R. Jauregui, Chunmei Li, Juan Wang, Michel R. Leroux, Maureen M. Barr

J Cell Sci. 2012 Jun 1; 125(11): 2592–2603. doi: 10.1242/jcs.095539

PMCID:: PMC3403231

Abstract Article

Select item 41214754.

Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability

Marion Failler, Heon Yung Gee, Pauline Krug, Kwangsic Joo, Jan Halbritter, Lilya Belkacem, Emilie Filhol, Jonathan D. Porath, Daniela A. Braun, Markus Schueler, Amandine Frigo, Olivier Alibeu, Cécile Masson, Karine Brochard, Bruno Hurault de Ligny, Robert Novo, Christine Pietrement, Hulya Kayserili, Rémi Salomon, Marie-Claire Gubler, Edgar A. Otto, Corinne Antignac, Joon Kim, Alexandre Benmerah, Friedhelm Hildebrandt, Sophie Saunier

Am J Hum Genet. 2014 Jun 5; 94(6): 905–914. doi: 10.1016/j.ajhg.2014.05.002

PMCID:: PMC4121475

Abstract Article PDF–2.8M

Select item 13775505.

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 42634116.

The nphp-2 and arl-13 Genetic Modules Interact to Regulate Ciliogenesis and Ciliary Microtubule Patterning in C. elegans

Simon R. F. Warburton-Pitt, Malan Silva, Ken C. Q. Nguyen, David H. Hall, Maureen M. Barr

PLoS Genet. 2014 Dec; 10(12): e1004866. Published online 2014 Dec 11. doi: 10.1371/journal.pgen.1004866

PMCID:: PMC4263411

Abstract Article PDF–1.2M

Select item 59953987.

Tubular cell loss in early inv/nphp2 mutant kidneys represents a possible homeostatic mechanism in cortical tubular formation

Masaki Shigeta, Hirotaka Kanazawa, Takahiko Yokoyama

PLoS One. 2018; 13(6): e0198580. Published online 2018 Jun 11. doi: 10.1371/journal.pone.0198580

PMCID:: PMC5995398

Abstract Article PDF–9.3M

Select item 48830268.

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 37862599.

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 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 403774211.

Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies

Moumita Chaki, Julia Hoefele, Susan J. Allen, Gokul Ramaswami, Sabine Janssen, Carsten Bergmann, John R. Heckenlively, Edgar A. Otto, Friedhelm Hildebrandt

Kidney Int. Author manuscript; available in PMC 2014 May 29.

Published in final edited form as: Kidney Int. 2011 Dec; 80(11): 1239–1245. Published online 2011 Aug 24. doi: 10.1038/ki.2011.284

PMCID:: PMC4037742

Abstract Article PDF–627K

Select item 277013412.

Nephronophthisis

Rémi Salomon, Sophie Saunier, Patrick Niaudet

Pediatr Nephrol. 2009; 24(12): 2333–2344. Published online 2008 Jul 8. doi: 10.1007/s00467-008-0840-z

PMCID:: PMC2770134

Abstract Article PDF–351K

Select item 426574213.

Ciliopathy proteins establish a bipartite signaling compartment in a C. elegans thermosensory neuron

Phuong Anh T. Nguyen, Willisa Liou, David H. Hall, Michel R. Leroux

J Cell Sci. 2014 Dec 15; 127(24): 5317–5330. doi: 10.1242/jcs.157610

PMCID:: PMC4265742

Abstract Article

Select item 464383414.

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 633544015.

Atmin modulates Pkhd1 expression and may mediate Autosomal Recessive Polycystic Kidney Disease (ARPKD) through altered non-canonical Wnt/Planar Cell Polarity (PCP) signalling

Taylor Richards, Kavindiya Modarage, Charlotte Dean, Aidan McCarthy-Boxer, Helen Hilton, Chris Esapa, Jill Norman, Patricia Wilson, Paraskevi Goggolidou

Biochim Biophys Acta Mol Basis Dis. 2019 Feb 1; 1865(2): 378–390. doi: 10.1016/j.bbadis.2018.11.003

PMCID:: PMC6335440

Abstract Article

Select item 239104316.

NEK8 Mutations Affect Ciliary and Centrosomal Localization and May Cause Nephronophthisis

Edgar A. Otto, Melissa L. Trapp, Ulla T. Schultheiss, Juliana Helou, Lynne M. Quarmby, Friedhelm Hildebrandt

J Am Soc Nephrol. 2008 Mar; 19(3): 587–592. doi: 10.1681/ASN.2007040490

PMCID:: PMC2391043

Abstract Article

Select item 752472117.

Nephronophthisis gene products display RNA-binding properties and are recruited to stress granules

Luisa Estrada Mallarino, Christina Engel, İbrahim Avşar Ilık, Daniel Maticzka, Florian Heyl, Barbara Müller, Toma A. Yakulov, Jörn Dengjel, Rolf Backofen, Asifa Akhtar, Gerd Walz

Sci Rep. 2020; 10: 15954. Published online 2020 Sep 29. doi: 10.1038/s41598-020-72905-8

PMCID:: PMC7524721

Abstract Article PDF–7.9M

Select item 38509118.

A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution

Edgar Otto, Julia Hoefele, Rainer Ruf, Adelheid M. Mueller, Karl S. Hiller, Matthias T. F. Wolf, Maria J. Schuermann, Achim Becker, Ralf Birkenhäger, Ralf Sudbrak, Hans C. Hennies, Peter Nürnberg, Friedhelm Hildebrandt

Am J Hum Genet. 2002 Nov; 71(5): 1161–1167. Published online 2002 Aug 29. doi: 10.1086/344395