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Items: 1 to 20 of 24

1.

Ciliopathies.

Braun DA, Hildebrandt F.

Cold Spring Harb Perspect Biol. 2017 Mar 1;9(3). pii: a028191. doi: 10.1101/cshperspect.a028191. Review.

2.
3.

Exploring the genetic basis of early-onset chronic kidney disease.

Vivante A, Hildebrandt F.

Nat Rev Nephrol. 2016 Mar;12(3):133-46. doi: 10.1038/nrneph.2015.205. Epub 2016 Jan 11. Review.

4.

Nephronophthisis and related syndromes.

Wolf MT.

Curr Opin Pediatr. 2015 Apr;27(2):201-11. doi: 10.1097/MOP.0000000000000194. Review.

5.

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.

6.

Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: a single center experience.

Soliman NA, Hildebrandt F, Otto EA, Nabhan MM, Allen SJ, Badr AM, Sheba M, Fadda S, Gawdat G, El-Kiky H.

Saudi J Kidney Dis Transpl. 2012 Sep;23(5):1090-8. doi: 10.4103/1319-2442.100968.

7.

Nephronophthisis: a genetically diverse ciliopathy.

Simms RJ, Hynes AM, Eley L, Sayer JA.

Int J Nephrol. 2011;2011:527137. doi: 10.4061/2011/527137. Epub 2011 May 15.

8.

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.

9.

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.

10.

Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion.

Hoefele J, Nayir A, Chaki M, Imm A, Allen SJ, Otto EA, Hildebrandt F.

Pediatr Nephrol. 2011 Jun;26(6):967-71. doi: 10.1007/s00467-011-1761-9. Epub 2011 Jan 22.

11.

Nephrocystin-1 forms a complex with polycystin-1 via a polyproline motif/SH3 domain interaction and regulates the apoptotic response in mammals.

Wodarczyk C, Distefano G, Rowe I, Gaetani M, Bricoli B, Muorah M, Spitaleri A, Mannella V, Ricchiuto P, Pema M, Castelli M, Casanova AE, Mollica L, Banzi M, Boca M, Antignac C, Saunier S, Musco G, Boletta A.

PLoS One. 2010 Sep 14;5(9):e12719. doi: 10.1371/journal.pone.0012719.

12.
13.

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.

14.

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].

15.

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.

16.

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.

17.
18.

The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.

Parisi MA, Bennett CL, Eckert ML, Dobyns WB, Gleeson JG, Shaw DW, McDonald R, Eddy A, Chance PF, Glass IA.

Am J Hum Genet. 2004 Jul;75(1):82-91. Epub 2004 May 11.

19.

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.

20.

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.

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