BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

277 related articles for article (PubMed ID: 17558407)

  • 1. Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
    Arts HH; Doherty D; van Beersum SE; Parisi MA; Letteboer SJ; Gorden NT; Peters TA; Märker T; Voesenek K; Kartono A; Ozyurek H; Farin FM; Kroes HY; Wolfrum U; Brunner HG; Cremers FP; Glass IA; Knoers NV; Roepman R
    Nat Genet; 2007 Jul; 39(7):882-8. PubMed ID: 17558407
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
    Delous M; Baala L; Salomon R; Laclef C; Vierkotten J; Tory K; Golzio C; Lacoste T; Besse L; Ozilou C; Moutkine I; Hellman NE; Anselme I; Silbermann F; Vesque C; Gerhardt C; Rattenberry E; Wolf MT; Gubler MC; Martinovic J; Encha-Razavi F; Boddaert N; Gonzales M; Macher MA; Nivet H; Champion G; Berthélémé JP; Niaudet P; McDonald F; Hildebrandt F; Johnson CA; Vekemans M; Antignac C; Rüther U; Schneider-Maunoury S; Attié-Bitach T; Saunier S
    Nat Genet; 2007 Jul; 39(7):875-81. PubMed ID: 17558409
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase.
    Coene KL; Mans DA; Boldt K; Gloeckner CJ; van Reeuwijk J; Bolat E; Roosing S; Letteboer SJ; Peters TA; Cremers FP; Ueffing M; Roepman R
    Hum Mol Genet; 2011 Sep; 20(18):3592-605. PubMed ID: 21685204
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Caenorhabditis elegans ciliary protein NPHP-8, the homologue of human RPGRIP1L, is required for ciliogenesis and chemosensation.
    Liu L; Zhang M; Xia Z; Xu P; Chen L; Xu T
    Biochem Biophys Res Commun; 2011 Jul; 410(3):626-31. PubMed ID: 21689635
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin.
    Mollet G; Salomon R; Gribouval O; Silbermann F; Bacq D; Landthaler G; Milford D; Nayir A; Rizzoni G; Antignac C; Saunier S
    Nat Genet; 2002 Oct; 32(2):300-5. PubMed ID: 12244321
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis.
    Wolf MT; Saunier S; O'Toole JF; Wanner N; Groshong T; Attanasio M; Salomon R; Stallmach T; Sayer JA; Waldherr R; Griebel M; Oh J; Neuhaus TJ; Josefiak U; Antignac C; Otto EA; Hildebrandt F
    Kidney Int; 2007 Dec; 72(12):1520-6. PubMed ID: 17960139
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.
    Roepman R; Letteboer SJ; Arts HH; van Beersum SE; Lu X; Krieger E; Ferreira PA; Cremers FP
    Proc Natl Acad Sci U S A; 2005 Dec; 102(51):18520-5. PubMed ID: 16339905
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia.
    Fliegauf M; Horvath J; von Schnakenburg C; Olbrich H; Müller D; Thumfart J; Schermer B; Pazour GJ; Neumann HP; Zentgraf H; Benzing T; Omran H
    J Am Soc Nephrol; 2006 Sep; 17(9):2424-33. PubMed ID: 16885411
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel transglutaminase-like peptidase and C2 domains elucidate the structure, biogenesis and evolution of the ciliary compartment.
    Zhang D; Aravind L
    Cell Cycle; 2012 Oct; 11(20):3861-75. PubMed ID: 22983010
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 288(19):13676-94. PubMed ID: 23532844
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Phosphorylation by casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia.
    Schermer B; Höpker K; Omran H; Ghenoiu C; Fliegauf M; Fekete A; Horvath J; Köttgen M; Hackl M; Zschiedrich S; Huber TB; Kramer-Zucker A; Zentgraf H; Blaukat A; Walz G; Benzing T
    EMBO J; 2005 Dec; 24(24):4415-24. PubMed ID: 16308564
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutations in RPGRIP1L: extending the clinical spectrum of ciliopathies.
    Devuyst O; Arnould VJ
    Nephrol Dial Transplant; 2008 May; 23(5):1500-3. PubMed ID: 18281315
    [No Abstract]   [Full Text] [Related]  

  • 13. Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes.
    Mollet G; Silbermann F; Delous M; Salomon R; Antignac C; Saunier S
    Hum Mol Genet; 2005 Mar; 14(5):645-56. PubMed ID: 15661758
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.
    Frank V; den Hollander AI; Brüchle NO; Zonneveld MN; Nürnberg G; Becker C; Du Bois G; Kendziorra H; Roosing S; Senderek J; Nürnberg P; Cremers FP; Zerres K; Bergmann C
    Hum Mutat; 2008 Jan; 29(1):45-52. PubMed ID: 17705300
    [TBL] [Abstract][Full Text] [Related]  

  • 15. TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.
    Huang L; Szymanska K; Jensen VL; Janecke AR; Innes AM; Davis EE; Frosk P; Li C; Willer JR; Chodirker BN; Greenberg CR; McLeod DR; Bernier FP; Chudley AE; Müller T; Shboul M; Logan CV; Loucks CM; Beaulieu CL; Bowie RV; Bell SM; Adkins J; Zuniga FI; Ross KD; Wang J; Ban MR; Becker C; Nürnberg P; Douglas S; Craft CM; Akimenko MA; Hegele RA; Ober C; Utermann G; Bolz HJ; Bulman DE; Katsanis N; Blacque OE; Doherty D; Parboosingh JS; Leroux MR; Johnson CA; Boycott KM
    Am J Hum Genet; 2011 Dec; 89(6):713-30. PubMed ID: 22152675
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.
    Otto EA; Loeys B; Khanna H; Hellemans J; Sudbrak R; Fan S; Muerb U; O'Toole JF; Helou J; Attanasio M; Utsch B; Sayer JA; Lillo C; Jimeno D; Coucke P; De Paepe A; Reinhardt R; Klages S; Tsuda M; Kawakami I; Kusakabe T; Omran H; Imm A; Tippens M; Raymond PA; Hill J; Beales P; He S; Kispert A; Margolis B; Williams DS; Swaroop A; Hildebrandt F
    Nat Genet; 2005 Mar; 37(3):282-8. PubMed ID: 15723066
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
    Otto EA; Tory K; Attanasio M; Zhou W; Chaki M; Paruchuri Y; Wise EL; Wolf MT; Utsch B; Becker C; Nürnberg G; Nürnberg P; Nayir A; Saunier S; Antignac C; Hildebrandt F
    J Med Genet; 2009 Oct; 46(10):663-70. PubMed ID: 19508969
    [TBL] [Abstract][Full Text] [Related]  

  • 18. DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands.
    Kroes HY; van Zon PH; Fransen van de Putte D; Nelen MR; Nievelstein RJ; Wittebol-Post D; van Nieuwenhuizen O; Mancini GM; van der Knaap MS; Kwee ML; Maas SM; Cobben JM; De Nef JE; Lindhout D; Sinke RJ
    Eur J Med Genet; 2008; 51(1):24-34. PubMed ID: 18054307
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Selective loss of RPGRIP1-dependent ciliary targeting of NPHP4, RPGR and SDCCAG8 underlies the degeneration of photoreceptor neurons.
    Patil H; Tserentsoodol N; Saha A; Hao Y; Webb M; Ferreira PA
    Cell Death Dis; 2012 Jul; 3(7):e355. PubMed ID: 22825473
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Proteomic analysis of isolated chlamydomonas centrioles reveals orthologs of ciliary-disease genes.
    Keller LC; Romijn EP; Zamora I; Yates JR; Marshall WF
    Curr Biol; 2005 Jun; 15(12):1090-8. PubMed ID: 15964273
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.