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Items: 1 to 20 of 77

1.

Nephrocystin-4 regulates Pyk2-induced tyrosine phosphorylation of nephrocystin-1 to control targeting to monocilia.

Liebau MC, Höpker K, Müller RU, Schmedding I, Zank S, Schairer B, Fabretti F, Höhne M, Bartram MP, Dafinger C, Hackl M, Burst V, Habbig S, Zentgraf H, Blaukat A, Walz G, Benzing T, Schermer B.

J Biol Chem. 2011 Apr 22;286(16):14237-45. doi: 10.1074/jbc.M110.165464. Epub 2011 Feb 28.

2.

The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin.

Mollet G, Salomon R, Gribouval O, Silbermann F, Bacq D, Landthaler G, Milford D, Nayir A, Rizzoni G, Antignac C, Saunier S.

Nat Genet. 2002 Oct;32(2):300-5. Epub 2002 Sep 9. Erratum in: Nat Genet 2002 Nov;32(3):459.

PMID:
12244321
3.

Phosphorylation by casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia.

Schermer B, Höpker K, Omran H, Ghenoiu C, Fliegauf M, Fekete A, Horvath J, Köttgen M, Hackl M, Zschiedrich S, Huber TB, Kramer-Zucker A, Zentgraf H, Blaukat A, Walz G, Benzing T.

EMBO J. 2005 Dec 21;24(24):4415-24. Epub 2005 Nov 24.

4.

Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia.

Fliegauf M, Horvath J, von Schnakenburg C, Olbrich H, Müller D, Thumfart J, Schermer B, Pazour GJ, Neumann HP, Zentgraf H, Benzing T, Omran H.

J Am Soc Nephrol. 2006 Sep;17(9):2424-33. Epub 2006 Aug 2.

5.

Nephrocystin interacts with Pyk2, p130(Cas), and tensin and triggers phosphorylation of Pyk2.

Benzing T, Gerke P, Höpker K, Hildebrandt F, Kim E, Walz G.

Proc Natl Acad Sci U S A. 2001 Aug 14;98(17):9784-9. Epub 2001 Aug 7.

6.

Clinical and histological presentation of 3 siblings with mutations in the NPHP4 gene.

Hoefele J, Otto E, Felten H, Kühn K, Bley TA, Zäuner I, Hildebrandt F, Neumann HP.

Am J Kidney Dis. 2004 Feb;43(2):358-64.

PMID:
14750102
7.

The centrosomal kinase Plk1 localizes to the transition zone of primary cilia and induces phosphorylation of nephrocystin-1.

Seeger-Nukpezah T, Liebau MC, Höpker K, Lamkemeyer T, Benzing T, Golemis EA, Schermer B.

PLoS One. 2012;7(6):e38838. doi: 10.1371/journal.pone.0038838. Epub 2012 Jun 11.

8.

Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes.

Mollet G, Silbermann F, Delous M, Salomon R, Antignac C, Saunier S.

Hum Mol Genet. 2005 Mar 1;14(5):645-56. Epub 2005 Jan 20.

PMID:
15661758
9.

Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6.

Delous M, Hellman NE, Gaudé HM, Silbermann F, Le Bivic A, Salomon R, Antignac C, Saunier S.

Hum Mol Genet. 2009 Dec 15;18(24):4711-23. doi: 10.1093/hmg/ddp434. Epub 2009 Sep 14.

10.

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

Otto EA, Schermer B, Obara T, O'Toole JF, Hiller KS, Mueller AM, Ruf RG, Hoefele J, Beekmann F, Landau D, Foreman JW, Goodship JA, Strachan T, Kispert A, Wolf MT, Gagnadoux MF, Nivet H, Antignac C, Walz G, Drummond IA, Benzing T, Hildebrandt F.

Nat Genet. 2003 Aug;34(4):413-20.

11.

The ciliary protein nephrocystin-4 translocates the canonical Wnt regulator Jade-1 to the nucleus to negatively regulate β-catenin signaling.

Borgal L, Habbig S, Hatzold J, Liebau MC, Dafinger C, Sacarea I, Hammerschmidt M, Benzing T, Schermer B.

J Biol Chem. 2012 Jul 20;287(30):25370-80. doi: 10.1074/jbc.M112.385658. Epub 2012 May 31.

12.

Nephrocystin-4 is required for pronephric duct-dependent cloaca formation in zebrafish.

Slanchev K, Pütz M, Schmitt A, Kramer-Zucker A, Walz G.

Hum Mol Genet. 2011 Aug 15;20(16):3119-28. doi: 10.1093/hmg/ddr214. Epub 2011 May 19.

PMID:
21596840
13.

High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations.

Tory K, Lacoste T, Burglen L, Morinière V, Boddaert N, Macher MA, Llanas B, Nivet H, Bensman A, Niaudet P, Antignac C, Salomon R, Saunier S.

J Am Soc Nephrol. 2007 May;18(5):1566-75. Epub 2007 Apr 4.

14.

Nephrocystin-1 interacts directly with Ack1 and is expressed in human collecting duct.

Eley L, Moochhala SH, Simms R, Hildebrandt F, Sayer JA.

Biochem Biophys Res Commun. 2008 Jul 11;371(4):877-82. doi: 10.1016/j.bbrc.2008.05.016. Epub 2008 May 12.

PMID:
18477472
15.

A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.

Otto E, Hoefele J, Ruf R, Mueller AM, Hiller KS, Wolf MT, Schuermann MJ, Becker A, Birkenhäger R, Sudbrak R, Hennies HC, Nürnberg P, Hildebrandt F.

Am J Hum Genet. 2002 Nov;71(5):1161-7. Epub 2002 Aug 29.

16.

Expression and phenotype analysis of the nephrocystin-1 and nephrocystin-4 homologs in Caenorhabditis elegans.

Wolf MT, Lee J, Panther F, Otto EA, Guan KL, Hildebrandt F.

J Am Soc Nephrol. 2005 Mar;16(3):676-87. Epub 2005 Jan 19.

17.

Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.

Olbrich H, Fliegauf M, Hoefele J, Kispert A, Otto E, Volz A, Wolf MT, Sasmaz G, Trauer U, Reinhardt R, Sudbrak R, Antignac C, Gretz N, Walz G, Schermer B, Benzing T, Hildebrandt F, Omran H.

Nat Genet. 2003 Aug;34(4):455-9.

PMID:
12872122
18.

Essential role of nephrocystin in photoreceptor intraflagellar transport in mouse.

Jiang ST, Chiou YY, Wang E, Chien YL, Ho HH, Tsai FJ, Lin CY, Tsai SP, Li H.

Hum Mol Genet. 2009 May 1;18(9):1566-77. doi: 10.1093/hmg/ddp068. Epub 2009 Feb 9.

PMID:
19208653
19.
20.

Control of the Wnt pathways by nephrocystin-4 is required for morphogenesis of the zebrafish pronephros.

Burcklé C, Gaudé HM, Vesque C, Silbermann F, Salomon R, Jeanpierre C, Antignac C, Saunier S, Schneider-Maunoury S.

Hum Mol Genet. 2011 Jul 1;20(13):2611-27. doi: 10.1093/hmg/ddr164. Epub 2011 Apr 15.

PMID:
21498478

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