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Items: 1 to 20 of 65

1.

Primary cilia and signaling pathways in mammalian development, health and disease.

Veland IR, Awan A, Pedersen LB, Yoder BK, Christensen ST.

Nephron Physiol. 2009;111(3):p39-53. doi: 10.1159/000208212. Epub 2009 Mar 10. Review.

2.

Glis3 is associated with primary cilia and Wwtr1/TAZ and implicated in polycystic kidney disease.

Kang HS, Beak JY, Kim YS, Herbert R, Jetten AM.

Mol Cell Biol. 2009 May;29(10):2556-69. doi: 10.1128/MCB.01620-08. Epub 2009 Mar 9.

3.

Renal involvement in tuberous sclerosis complex and von Hippel-Lindau disease: shared disease mechanisms?

Siroky BJ, Czyzyk-Krzeska MF, Bissler JJ.

Nat Clin Pract Nephrol. 2009 Mar;5(3):143-56. doi: 10.1038/ncpneph1032. Review.

PMID:
19240728
4.

Mutations of NPHP2 and NPHP3 in infantile nephronophthisis.

Tory K, Rousset-Rouvière C, Gubler MC, Morinière V, Pawtowski A, Becker C, Guyot C, Gié S, Frishberg Y, Nivet H, Deschênes G, Cochat P, Gagnadoux MF, Saunier S, Antignac C, Salomon R.

Kidney Int. 2009 Apr;75(8):839-47. doi: 10.1038/ki.2008.662. Epub 2009 Jan 28.

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. Epub 2008 Dec 31. Review.

6.

Zebrafish Tsc1 reveals functional interactions between the cilium and the TOR pathway.

DiBella LM, Park A, Sun Z.

Hum Mol Genet. 2009 Feb 15;18(4):595-606. doi: 10.1093/hmg/ddn384. Epub 2008 Nov 13.

7.

Arc syndrome without arthrogryposis, with hip dislocation and renal glomerulocystic appearance: a case report.

Arhan E, Yusufoğlu AM, Sayli TR.

Eur J Pediatr. 2009 Aug;168(8):995-8. doi: 10.1007/s00431-008-0860-5. Epub 2008 Oct 30. Review.

PMID:
18972129
8.

Immature renal structures associated with a novel UMOD sequence variant.

Benetti E, Caridi G, Vella MD, Rampoldi L, Ghiggeri GM, Artifoni L, Murer L.

Am J Kidney Dis. 2009 Feb;53(2):327-31. doi: 10.1053/j.ajkd.2008.08.020. Epub 2008 Oct 31.

PMID:
18950917
9.

Alterations in renal cilium length during transient complete ureteral obstruction in the mouse.

Wang L, Weidenfeld R, Verghese E, Ricardo SD, Deane JA.

J Anat. 2008 Aug;213(2):79-85. doi: 10.1111/j.1469-7580.2008.00918.x.

10.

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.

Bergmann C, Fliegauf M, Brüchle NO, Frank V, Olbrich H, Kirschner J, Schermer B, Schmedding I, Kispert A, Kränzlin B, Nürnberg G, Becker C, Grimm T, Girschick G, Lynch SA, Kelehan P, Senderek J, Neuhaus TJ, Stallmach T, Zentgraf H, Nürnberg P, Gretz N, Lo C, Lienkamp S, Schäfer T, Walz G, Benzing T, Zerres K, Omran H.

Am J Hum Genet. 2008 Apr;82(4):959-70. doi: 10.1016/j.ajhg.2008.02.017. Epub 2008 Mar 27.

11.

Cohesin complex promotes transcriptional termination between convergent genes in S. pombe.

Gullerova M, Proudfoot NJ.

Cell. 2008 Mar 21;132(6):983-95. doi: 10.1016/j.cell.2008.02.040.

12.

All along the watchtower: is the cilium a tumor suppressor organelle?

Mans DA, Voest EE, Giles RH.

Biochim Biophys Acta. 2008 Dec;1786(2):114-25. doi: 10.1016/j.bbcan.2008.02.002. Epub 2008 Feb 26. Review.

PMID:
18343234
13.

Acute kidney injury and aberrant planar cell polarity induce cyst formation in mice lacking renal cilia.

Patel V, Li L, Cobo-Stark P, Shao X, Somlo S, Lin F, Igarashi P.

Hum Mol Genet. 2008 Jun 1;17(11):1578-90. doi: 10.1093/hmg/ddn045. Epub 2008 Feb 9.

14.

A critical developmental switch defines the kinetics of kidney cyst formation after loss of Pkd1.

Piontek K, Menezes LF, Garcia-Gonzalez MA, Huso DL, Germino GG.

Nat Med. 2007 Dec;13(12):1490-5. Epub 2007 Oct 28.

15.

Kidney-specific inactivation of the Pkd1 gene induces rapid cyst formation in developing kidneys and a slow onset of disease in adult mice.

Lantinga-van Leeuwen IS, Leonhard WN, van der Wal A, Breuning MH, de Heer E, Peters DJ.

Hum Mol Genet. 2007 Dec 15;16(24):3188-96. Epub 2007 Oct 11.

PMID:
17932118
16.

Polycystic kidney disease and renal injury repair: common pathways, fluid flow, and the function of polycystin-1.

Weimbs T.

Am J Physiol Renal Physiol. 2007 Nov;293(5):F1423-32. Epub 2007 Aug 22. Review.

17.

IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.

Beales PL, Bland E, Tobin JL, Bacchelli C, Tuysuz B, Hill J, Rix S, Pearson CG, Kai M, Hartley J, Johnson C, Irving M, Elcioglu N, Winey M, Tada M, Scambler PJ.

Nat Genet. 2007 Jun;39(6):727-9. Epub 2007 Apr 29.

PMID:
17468754
18.
19.

Role of primary cilia in the pathogenesis of polycystic kidney disease.

Yoder BK.

J Am Soc Nephrol. 2007 May;18(5):1381-8. Epub 2007 Apr 11. Review.

20.

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.

Khaddour R, Smith U, Baala L, Martinovic J, Clavering D, Shaffiq R, Ozilou C, Cullinane A, Kyttälä M, Shalev S, Audollent S, d'Humières C, Kadhom N, Esculpavit C, Viot G, Boone C, Oien C, Encha-Razavi F, Batman PA, Bennett CP, Woods CG, Roume J, Lyonnet S, Génin E, Le Merrer M, Munnich A, Gubler MC, Cox P, Macdonald F, Vekemans M, Johnson CA, Attié-Bitach T; SOFFOET (Société Française de Foetopathologie).

Hum Mutat. 2007 May;28(5):523-4.

PMID:
17397051

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