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Results: 11

1.

Genetic contribution and associated pathophysiology in end-stage renal disease.

Agrawal S, Agarwal S, Naik S.

Appl Clin Genet. 2010 Aug 5;3:65-84. Print 2010.

PMID:
23776353
[PubMed]
Free PMC Article
2.

The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions.

Tuz K, Hsiao YC, Juárez O, Shi B, Harmon EY, Phelps IG, Lennartz MR, Glass IA, Doherty D, Ferland RJ.

J Biol Chem. 2013 May 10;288(19):13676-94. doi: 10.1074/jbc.M112.420786. Epub 2013 Mar 26.

PMID:
23532844
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Senior-Løken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis.

Ronquillo CC, Bernstein PS, Baehr W.

Vision Res. 2012 Dec 15;75:88-97. doi: 10.1016/j.visres.2012.07.003. Epub 2012 Jul 20. Review.

PMID:
22819833
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Ciliopathies.

Hildebrandt F, Benzing T, Katsanis N.

N Engl J Med. 2011 Apr 21;364(16):1533-43. doi: 10.1056/NEJMra1010172. Review. No abstract available.

PMID:
21506742
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Mechanisms of nephronophthisis and related ciliopathies.

Hurd TW, Hildebrandt F.

Nephron Exp Nephrol. 2011;118(1):e9-14. doi: 10.1159/000320888. Epub 2010 Nov 11. Review.

PMID:
21071979
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathway.

Zullo A, Iaconis D, Barra A, Cantone A, Messaddeq N, Capasso G, Dollé P, Igarashi P, Franco B.

Hum Mol Genet. 2010 Jul 15;19(14):2792-803. doi: 10.1093/hmg/ddq180. Epub 2010 May 5.

PMID:
20444807
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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.

PMID:
19755384
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

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. Epub 2008 Dec 31. Review.

PMID:
19118152
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Nephronophthisis.

Salomon R, Saunier S, Niaudet P.

Pediatr Nephrol. 2009 Dec;24(12):2333-44. doi: 10.1007/s00467-008-0840-z. Epub 2008 Jul 8. Review.

PMID:
18607645
[PubMed - indexed for MEDLINE]
Free PMC Article
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.

PMID:
12872123
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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.

PMID:
12205563
[PubMed - indexed for MEDLINE]
Free PMC Article

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