318 related articles for article (PubMed ID: 17558407)
21. The basal body gene, RPGRIP1L, is a candidate tumour suppressor gene in human hepatocellular carcinoma.
Lin YW; Yan MD; Shih YL; Hsieh CB
Eur J Cancer; 2009 Jul; 45(11):2041-9. PubMed ID: 19410446
[TBL] [Abstract][Full Text] [Related]
22. Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome.
Shi X; Garcia G; Van De Weghe JC; McGorty R; Pazour GJ; Doherty D; Huang B; Reiter JF
Nat Cell Biol; 2017 Oct; 19(10):1178-1188. PubMed ID: 28846093
[TBL] [Abstract][Full Text] [Related]
23. Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.
Olbrich H; Fliegauf M; Hoefele J; Kispert A; Otto E; Volz A; Wolf MT; Sasmaz G; Trauer U; Reinhardt R; Sudbrak R; Antignac C; Gretz N; Walz G; Schermer B; Benzing T; Hildebrandt F; Omran H
Nat Genet; 2003 Aug; 34(4):455-9. PubMed ID: 12872122
[TBL] [Abstract][Full Text] [Related]
24. Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome.
Helou J; Otto EA; Attanasio M; Allen SJ; Parisi MA; Glass I; Utsch B; Hashmi S; Fazzi E; Omran H; O'Toole JF; Sayer JA; Hildebrandt F
J Med Genet; 2007 Oct; 44(10):657-63. PubMed ID: 17617513
[TBL] [Abstract][Full Text] [Related]
25. The ciliary protein Rpgrip1l in development and disease.
Wiegering A; Rüther U; Gerhardt C
Dev Biol; 2018 Oct; 442(1):60-68. PubMed ID: 30075108
[TBL] [Abstract][Full Text] [Related]
26. C2 domains as protein-protein interaction modules in the ciliary transition zone.
Remans K; Bürger M; Vetter IR; Wittinghofer A
Cell Rep; 2014 Jul; 8(1):1-9. PubMed ID: 24981858
[TBL] [Abstract][Full Text] [Related]
27. CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
Lee JE; Silhavy JL; Zaki MS; Schroth J; Bielas SL; Marsh SE; Olvera J; Brancati F; Iannicelli M; Ikegami K; Schlossman AM; Merriman B; Attié-Bitach T; Logan CV; Glass IA; Cluckey A; Louie CM; Lee JH; Raynes HR; Rapin I; Castroviejo IP; Setou M; Barbot C; Boltshauser E; Nelson SF; Hildebrandt F; Johnson CA; Doherty DA; Valente EM; Gleeson JG
Nat Genet; 2012 Jan; 44(2):193-9. PubMed ID: 22246503
[TBL] [Abstract][Full Text] [Related]
28. Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing.
Otto EA; Helou J; Allen SJ; O'Toole JF; Wise EL; Ashraf S; Attanasio M; Zhou W; Wolf MT; Hildebrandt F
Hum Mutat; 2008 Mar; 29(3):418-26. PubMed ID: 18076122
[TBL] [Abstract][Full Text] [Related]
29. The retinal ciliopathies.
Adams NA; Awadein A; Toma HS
Ophthalmic Genet; 2007 Sep; 28(3):113-25. PubMed ID: 17896309
[TBL] [Abstract][Full Text] [Related]
30. Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome.
Utsch B; Sayer JA; Attanasio M; Pereira RR; Eccles M; Hennies HC; Otto EA; Hildebrandt F
Pediatr Nephrol; 2006 Jan; 21(1):32-5. PubMed ID: 16240161
[TBL] [Abstract][Full Text] [Related]
31. The ciliary transitional zone and nephrocystins.
Shiba D; Yokoyama T
Differentiation; 2012 Feb; 83(2):S91-6. PubMed ID: 22169048
[TBL] [Abstract][Full Text] [Related]
32. Nephrocystin-1 interacts directly with Ack1 and is expressed in human collecting duct.
Eley L; Moochhala SH; Simms R; Hildebrandt F; Sayer JA
Biochem Biophys Res Commun; 2008 Jul; 371(4):877-82. PubMed ID: 18477472
[TBL] [Abstract][Full Text] [Related]
33. Genetic complexity in Joubert syndrome and related disorders.
Harris PC
Kidney Int; 2007 Dec; 72(12):1421-3. PubMed ID: 18046420
[TBL] [Abstract][Full Text] [Related]
34. Nephronophthisis-associated ciliopathies.
Hildebrandt F; Zhou W
J Am Soc Nephrol; 2007 Jun; 18(6):1855-71. PubMed ID: 17513324
[TBL] [Abstract][Full Text] [Related]
35. The transition zone protein Rpgrip1l regulates proteasomal activity at the primary cilium.
Gerhardt C; Lier JM; Burmühl S; Struchtrup A; Deutschmann K; Vetter M; Leu T; Reeg S; Grune T; Rüther U
J Cell Biol; 2015 Jul; 210(1):115-33. PubMed ID: 26150391
[TBL] [Abstract][Full Text] [Related]
36. Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
Doherty D; Parisi MA; Finn LS; Gunay-Aygun M; Al-Mateen M; Bates D; Clericuzio C; Demir H; Dorschner M; van Essen AJ; Gahl WA; Gentile M; Gorden NT; Hikida A; Knutzen D; Ozyurek H; Phelps I; Rosenthal P; Verloes A; Weigand H; Chance PF; Dobyns WB; Glass IA
J Med Genet; 2010 Jan; 47(1):8-21. PubMed ID: 19574260
[TBL] [Abstract][Full Text] [Related]
37. 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. PubMed ID: 12872123
[TBL] [Abstract][Full Text] [Related]
38. RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction.
Murga-Zamalloa CA; Swaroop A; Khanna H
J Genet; 2009 Dec; 88(4):399-407. PubMed ID: 20090203
[TBL] [Abstract][Full Text] [Related]
39. RPGRIP1L helps to establish the ciliary gate for entry of proteins.
Lin H; Guo S; Dutcher SK
J Cell Sci; 2018 Oct; 131(20):. PubMed ID: 30237221
[TBL] [Abstract][Full Text] [Related]
40. Nephrocystin and ciliary defects not only in the kidney?
von Schnakenburg C; Fliegauf M; Omran H
Pediatr Nephrol; 2007 Jun; 22(6):765-9. PubMed ID: 17310360
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
