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383 related items for PubMed ID: 26485645

  • 1. The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking.
    Bachmann-Gagescu R, Dona M, Hetterschijt L, Tonnaer E, Peters T, de Vrieze E, Mans DA, van Beersum SE, Phelps IG, Arts HH, Keunen JE, Ueffing M, Roepman R, Boldt K, Doherty D, Moens CB, Neuhauss SC, Kremer H, van Wijk E.
    PLoS Genet; 2015 Oct; 11(10):e1005575. PubMed ID: 26485645
    [Abstract] [Full Text] [Related]

  • 2. Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects.
    Abdelhamed ZA, Wheway G, Szymanska K, Natarajan S, Toomes C, Inglehearn C, Johnson CA.
    Hum Mol Genet; 2013 Apr 01; 22(7):1358-72. PubMed ID: 23283079
    [Abstract] [Full Text] [Related]

  • 3. Loss-of-function of the ciliopathy protein Cc2d2a disorganizes the vesicle fusion machinery at the periciliary membrane and indirectly affects Rab8-trafficking in zebrafish photoreceptors.
    Ojeda Naharros I, Gesemann M, Mateos JM, Barmettler G, Forbes A, Ziegler U, Neuhauss SCF, Bachmann-Gagescu R.
    PLoS Genet; 2017 Dec 01; 13(12):e1007150. PubMed ID: 29281629
    [Abstract] [Full Text] [Related]

  • 4. Ciliopathies and the Kidney: A Review.
    McConnachie DJ, Stow JL, Mallett AJ.
    Am J Kidney Dis; 2021 Mar 01; 77(3):410-419. PubMed ID: 33039432
    [Abstract] [Full Text] [Related]

  • 5. Defects in diffusion barrier function of ciliary transition zone caused by ciliopathy variations of TMEM218.
    Fujii T, Liang L, Nakayama K, Katoh Y.
    Hum Mol Genet; 2024 Aug 06; 33(16):1442-1453. PubMed ID: 38751342
    [Abstract] [Full Text] [Related]

  • 6. The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking.
    Bachmann-Gagescu R, Phelps IG, Stearns G, Link BA, Brockerhoff SE, Moens CB, Doherty D.
    Hum Mol Genet; 2011 Oct 15; 20(20):4041-55. PubMed ID: 21816947
    [Abstract] [Full Text] [Related]

  • 7. Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain.
    Cevik S, Sanders AA, Van Wijk E, Boldt K, Clarke L, van Reeuwijk J, Hori Y, Horn N, Hetterschijt L, Wdowicz A, Mullins A, Kida K, Kaplan OI, van Beersum SE, Man Wu K, Letteboer SJ, Mans DA, Katada T, Kontani K, Ueffing M, Roepman R, Kremer H, Blacque OE.
    PLoS Genet; 2013 Oct 15; 9(12):e1003977. PubMed ID: 24339792
    [Abstract] [Full Text] [Related]

  • 8. The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies.
    Van De Weghe JC, Gomez A, Doherty D.
    Annu Rev Genomics Hum Genet; 2022 Aug 31; 23():301-329. PubMed ID: 35655331
    [Abstract] [Full Text] [Related]

  • 9. A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.
    Garcia-Gonzalo FR, Corbit KC, Sirerol-Piquer MS, Ramaswami G, Otto EA, Noriega TR, Seol AD, Robinson JF, Bennett CL, Josifova DJ, García-Verdugo JM, Katsanis N, Hildebrandt F, Reiter JF.
    Nat Genet; 2011 Jul 03; 43(8):776-84. PubMed ID: 21725307
    [Abstract] [Full Text] [Related]

  • 10. Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
    Romani M, Micalizzi A, Kraoua I, Dotti MT, Cavallin M, Sztriha L, Ruta R, Mancini F, Mazza T, Castellana S, Hanene B, Carluccio MA, Darra F, Máté A, Zimmermann A, Gouider-Khouja N, Valente EM.
    Orphanet J Rare Dis; 2014 May 05; 9():72. PubMed ID: 24886560
    [Abstract] [Full Text] [Related]

  • 11. 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 15; 11(20):3861-75. PubMed ID: 22983010
    [Abstract] [Full Text] [Related]

  • 12. Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome.
    Aguilar A, Meunier A, Strehl L, Martinovic J, Bonniere M, Attie-Bitach T, Encha-Razavi F, Spassky N.
    Proc Natl Acad Sci U S A; 2012 Oct 16; 109(42):16951-6. PubMed ID: 23027964
    [Abstract] [Full Text] [Related]

  • 13. NINL and DZANK1 Co-function in Vesicle Transport and Are Essential for Photoreceptor Development in Zebrafish.
    Dona M, Bachmann-Gagescu R, Texier Y, Toedt G, Hetterschijt L, Tonnaer EL, Peters TA, van Beersum SE, Bergboer JG, Horn N, de Vrieze E, Slijkerman RW, van Reeuwijk J, Flik G, Keunen JE, Ueffing M, Gibson TJ, Roepman R, Boldt K, Kremer H, van Wijk E.
    PLoS Genet; 2015 Oct 16; 11(10):e1005574. PubMed ID: 26485514
    [Abstract] [Full Text] [Related]

  • 14. A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies.
    Srivastava S, Ramsbottom SA, Molinari E, Alkanderi S, Filby A, White K, Henry C, Saunier S, Miles CG, Sayer JA.
    Hum Mol Genet; 2017 Dec 01; 26(23):4657-4667. PubMed ID: 28973549
    [Abstract] [Full Text] [Related]

  • 15. The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity.
    Leightner AC, Hommerding CJ, Peng Y, Salisbury JL, Gainullin VG, Czarnecki PG, Sussman CR, Harris PC.
    Hum Mol Genet; 2013 May 15; 22(10):2024-40. PubMed ID: 23393159
    [Abstract] [Full Text] [Related]

  • 16. DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome.
    Slaats GG, Saldivar JC, Bacal J, Zeman MK, Kile AC, Hynes AM, Srivastava S, Nazmutdinova J, den Ouden K, Zagers MS, Foletto V, Verhaar MC, Miles C, Sayer JA, Cimprich KA, Giles RH.
    J Clin Invest; 2015 Sep 15; 125(9):3657-66. PubMed ID: 26301811
    [Abstract] [Full Text] [Related]

  • 17. Joubert syndrome causing mutation in C2 domain of CC2D2A affects structural integrity of cilia and cellular signaling molecules.
    Jayarajan RO, Chakraborty S, Raghu KG, Purushothaman J, Veleri S.
    Exp Brain Res; 2024 Mar 15; 242(3):619-637. PubMed ID: 38231387
    [Abstract] [Full Text] [Related]

  • 18. 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 15; 19(10):1178-1188. PubMed ID: 28846093
    [Abstract] [Full Text] [Related]

  • 19. Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.
    Shaheen R, Shamseldin HE, Loucks CM, Seidahmed MZ, Ansari S, Ibrahim Khalil M, Al-Yacoub N, Davis EE, Mola NA, Szymanska K, Herridge W, Chudley AE, Chodirker BN, Schwartzentruber J, Majewski J, Katsanis N, Poizat C, Johnson CA, Parboosingh J, Boycott KM, Innes AM, Alkuraya FS.
    Am J Hum Genet; 2014 Jan 02; 94(1):73-9. PubMed ID: 24360803
    [Abstract] [Full Text] [Related]

  • 20. Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.
    Van De Weghe JC, Rusterholz TDS, Latour B, Grout ME, Aldinger KA, Shaheen R, Dempsey JC, Maddirevula S, Cheng YH, Phelps IG, Gesemann M, Goel H, Birk OS, Alanzi T, Rawashdeh R, Khan AO, University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Neuhauss SCF, Dobyns WB, Alkuraya FS, Roepman R, Bachmann-Gagescu R, Doherty D.
    Am J Hum Genet; 2017 Jul 06; 101(1):23-36. PubMed ID: 28625504
    [Abstract] [Full Text] [Related]

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