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Items: 1 to 20 of 43

1.

Polycystin-1 and -2 dosage regulates pressure sensing.

Sharif-Naeini R, Folgering JH, Bichet D, Duprat F, Lauritzen I, Arhatte M, Jodar M, Dedman A, Chatelain FC, Schulte U, Retailleau K, Loufrani L, Patel A, Sachs F, Delmas P, Peters DJ, Honoré E.

Cell. 2009 Oct 30;139(3):587-96. doi: 10.1016/j.cell.2009.08.045.

2.

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.

3.

PACS-1 mediates phosphorylation-dependent ciliary trafficking of the cyclic-nucleotide-gated channel in olfactory sensory neurons.

Jenkins PM, Zhang L, Thomas G, Martens JR.

J Neurosci. 2009 Aug 26;29(34):10541-51. doi: 10.1523/JNEUROSCI.1590-09.2009.

4.

Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

Otto EA, Tory K, Attanasio M, Zhou W, Chaki M, Paruchuri Y, Wise EL, Wolf MT, Utsch B, Becker C, Nürnberg G, Nürnberg P, Nayir A, Saunier S, Antignac C, Hildebrandt F.

J Med Genet. 2009 Oct;46(10):663-70. doi: 10.1136/jmg.2009.066613.

PMID:
19508969
5.

Nephronophthisis: disease mechanisms of a ciliopathy.

Hildebrandt F, Attanasio M, Otto E.

J Am Soc Nephrol. 2009 Jan;20(1):23-35. doi: 10.1681/ASN.2008050456. Review.

6.

Nephronophthisis.

Salomon R, Saunier S, Niaudet P.

Pediatr Nephrol. 2009 Dec;24(12):2333-44. doi: 10.1007/s00467-008-0840-z. Review.

7.

The Caenorhabditis elegans nephrocystins act as global modifiers of cilium structure.

Jauregui AR, Nguyen KC, Hall DH, Barr MM.

J Cell Biol. 2008 Mar 10;180(5):973-88. doi: 10.1083/jcb.200707090.

8.

HEF1-dependent Aurora A activation induces disassembly of the primary cilium.

Pugacheva EN, Jablonski SA, Hartman TR, Henske EP, Golemis EA.

Cell. 2007 Jun 29;129(7):1351-63.

9.

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.

Arts HH, Doherty D, van Beersum SE, Parisi MA, Letteboer SJ, Gorden NT, Peters TA, Märker T, Voesenek K, Kartono A, Ozyurek H, Farin FM, Kroes HY, Wolfrum U, Brunner HG, Cremers FP, Glass IA, Knoers NV, Roepman R.

Nat Genet. 2007 Jul;39(7):882-8.

PMID:
17558407
10.

A PACS-1, GGA3 and CK2 complex regulates CI-MPR trafficking.

Scott GK, Fei H, Thomas L, Medigeshi GR, Thomas G.

EMBO J. 2006 Oct 4;25(19):4423-35.

11.

Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.

Roepman R, Letteboer SJ, Arts HH, van Beersum SE, Lu X, Krieger E, Ferreira PA, Cremers FP.

Proc Natl Acad Sci U S A. 2005 Dec 20;102(51):18520-5.

12.

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.

13.

The C. elegans homologs of nephrocystin-1 and nephrocystin-4 are cilia transition zone proteins involved in chemosensory perception.

Winkelbauer ME, Schafer JC, Haycraft CJ, Swoboda P, Yoder BK.

J Cell Sci. 2005 Dec 1;118(Pt 23):5575-87.

14.
15.

Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.

Hoefele J, Sudbrak R, Reinhardt R, Lehrack S, Hennig S, Imm A, Muerb U, Utsch B, Attanasio M, O'Toole JF, Otto E, Hildebrandt F.

Hum Mutat. 2005 Apr;25(4):411.

PMID:
15776426
16.

Cilium-generated signaling and cilia-related disorders.

Pan J, Wang Q, Snell WJ.

Lab Invest. 2005 Apr;85(4):452-63. Review.

17.

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.

18.

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.

19.
20.

The phosphorylation state of an autoregulatory domain controls PACS-1-directed protein traffic.

Scott GK, Gu F, Crump CM, Thomas L, Wan L, Xiang Y, Thomas G.

EMBO J. 2003 Dec 1;22(23):6234-44.

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