Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 18

1.

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.

O'Toole JF, Liu Y, Davis EE, Westlake CJ, Attanasio M, Otto EA, Seelow D, Nurnberg G, Becker C, Nuutinen M, Kärppä M, Ignatius J, Uusimaa J, Pakanen S, Jaakkola E, van den Heuvel LP, Fehrenbach H, Wiggins R, Goyal M, Zhou W, Wolf MT, Wise E, Helou J, Allen SJ, Murga-Zamalloa CA, Ashraf S, Chaki M, Heeringa S, Chernin G, Hoskins BE, Chaib H, Gleeson J, Kusakabe T, Suzuki T, Isaac RE, Quarmby LM, Tennant B, Fujioka H, Tuominen H, Hassinen I, Lohi H, van Houten JL, Rotig A, Sayer JA, Rolinski B, Freisinger P, Madhavan SM, Herzer M, Madignier F, Prokisch H, Nurnberg P, Jackson PK, Khanna H, Katsanis N, Hildebrandt F.

J Clin Invest. 2010 Mar;120(3):791-802. doi: 10.1172/JCI40076. Epub 2010 Feb 22. Erratum in: J Clin Invest. 2010 Apr;120(4):1362. Jackson, Peter [corrected to Jackson, Peter K].

PMID:
20179356
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Nephronophthisis-associated ciliopathies.

Hildebrandt F, Zhou W.

J Am Soc Nephrol. 2007 Jun;18(6):1855-71. Epub 2007 May 18. Review.

PMID:
17513324
[PubMed - indexed for MEDLINE]
Free Article
3.

Nephronophthisis.

Wolf MT, Hildebrandt F.

Pediatr Nephrol. 2011 Feb;26(2):181-94. doi: 10.1007/s00467-010-1585-z. Epub 2010 Jul 22. Review.

PMID:
20652329
[PubMed - indexed for MEDLINE]
4.

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
5.

Clinical spectrum and pathogenesis of nephronophthisis.

Benzing T, Schermer B.

Curr Opin Nephrol Hypertens. 2012 May;21(3):272-8. doi: 10.1097/MNH.0b013e3283520f17. Review.

PMID:
22388554
[PubMed - indexed for MEDLINE]
6.

Liver and kidney disease in ciliopathies.

Gunay-Aygun M.

Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):296-306. doi: 10.1002/ajmg.c.30225. Review.

PMID:
19876928
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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
8.

Renal cystic diseases: diverse phenotypes converge on the cilium/centrosome complex.

Guay-Woodford LM.

Pediatr Nephrol. 2006 Oct;21(10):1369-76. Epub 2006 Jul 6. Review.

PMID:
16823577
[PubMed - indexed for MEDLINE]
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.

Intraflagellar transport and cilia-dependent renal disease: the ciliary hypothesis of polycystic kidney disease.

Pazour GJ.

J Am Soc Nephrol. 2004 Oct;15(10):2528-36. Review.

PMID:
15466257
[PubMed - indexed for MEDLINE]
Free Article
11.

CEP290, a gene with many faces: mutation overview and presentation of CEP290base.

Coppieters F, Lefever S, Leroy BP, De Baere E.

Hum Mutat. 2010 Oct;31(10):1097-108. doi: 10.1002/humu.21337. Review.

PMID:
20690115
[PubMed - indexed for MEDLINE]
12.

The ciliary transitional zone and nephrocystins.

Shiba D, Yokoyama T.

Differentiation. 2012 Feb;83(2):S91-6. doi: 10.1016/j.diff.2011.11.006. Epub 2011 Dec 12. Review.

PMID:
22169048
[PubMed - indexed for MEDLINE]
13.

Mitochondrial dysfunction in familial amyotrophic lateral sclerosis.

Faes L, Callewaert G.

J Bioenerg Biomembr. 2011 Dec;43(6):587-92. doi: 10.1007/s10863-011-9393-0. Review.

PMID:
22072073
[PubMed - indexed for MEDLINE]
14.

Ciliary biology: understanding the cellular and genetic basis of human ciliopathies.

Cardenas-Rodriguez M, Badano JL.

Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):263-80. doi: 10.1002/ajmg.c.30227. Review.

PMID:
19876935
[PubMed - indexed for MEDLINE]
15.

Molecular basis of autosomal dominant polycystic kidney disease.

Al-Bhalal L, Akhtar M.

Adv Anat Pathol. 2005 May;12(3):126-33. Review.

PMID:
15900113
[PubMed - indexed for MEDLINE]
16.

Cystic diseases of the kidney: ciliary dysfunction and cystogenic mechanisms.

Gascue C, Katsanis N, Badano JL.

Pediatr Nephrol. 2011 Aug;26(8):1181-95. doi: 10.1007/s00467-010-1697-5. Epub 2010 Nov 27. Review.

PMID:
21113628
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Cystic kidney diseases: many ways to form a cyst.

Loftus H, Ong AC.

Pediatr Nephrol. 2013 Jan;28(1):33-49. doi: 10.1007/s00467-012-2221-x. Epub 2012 Jun 27. Review.

PMID:
22736301
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Current insights into renal ciliopathies: what can genetics teach us?

Arts HH, Knoers NV.

Pediatr Nephrol. 2013 Jun;28(6):863-74. doi: 10.1007/s00467-012-2259-9. Epub 2012 Jul 25. Review.

PMID:
22829176
[PubMed - indexed for MEDLINE]
Free PMC Article

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk