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Journal Abstract Search

358 related items for PubMed ID: 29734148

  • 1. New Insights into Cystic Kidney Diseases.
    Mochizuki T, Makabe S, Aoyama Y, Kataoka H, Nitta K.
    Contrib Nephrol; 2018; 195():31-41. PubMed ID: 29734148
    [Abstract] [Full Text] [Related]

  • 2. [Hereditary cerebro-oculo-renal syndromes].
    Sessa G, Hjortshøj TD, Egfjord M.
    Ugeskr Laeger; 2014 Feb 17; 176(8A):V07130452. PubMed ID: 25350305
    [Abstract] [Full Text] [Related]

  • 3. Ciliopathies and the Kidney: A Review.
    McConnachie DJ, Stow JL, Mallett AJ.
    Am J Kidney Dis; 2021 Mar 17; 77(3):410-419. PubMed ID: 33039432
    [Abstract] [Full Text] [Related]

  • 4. [Ciliopathy--cause of several peculiar syndromes].
    Stenram U.
    Lakartidningen; 2021 Mar 17; 108(7):332-5. PubMed ID: 21539115
    [No Abstract] [Full Text] [Related]

  • 5. 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 17; 11(10):e1005575. PubMed ID: 26485645
    [Abstract] [Full Text] [Related]

  • 6. 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 17; 9(12):e1003977. PubMed ID: 24339792
    [Abstract] [Full Text] [Related]

  • 7. [Ciliopathies].
    Gerth-Kahlert C, Koller S.
    Klin Monbl Augenheilkd; 2018 Mar 17; 235(3):264-272. PubMed ID: 29534263
    [Abstract] [Full Text] [Related]

  • 8. Syndromic ciliopathies: From single gene to multi gene analysis by SNP arrays and next generation sequencing.
    Knopp C, Rudnik-Schöneborn S, Eggermann T, Bergmann C, Begemann M, Schoner K, Zerres K, Ortiz Brüchle N.
    Mol Cell Probes; 2015 Oct 17; 29(5):299-307. PubMed ID: 26003401
    [Abstract] [Full Text] [Related]

  • 9. Expanding horizons: ciliary proteins reach beyond cilia.
    Yuan S, Sun Z.
    Annu Rev Genet; 2013 Oct 17; 47():353-76. PubMed ID: 24016188
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. 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]

  • 12. Expanding the allelic disorders linked to TCTN1 to include Varadi syndrome (Orofaciodigital syndrome type VI).
    Al-Qattan MM, Shaheen R, Alkuraya FS.
    Am J Med Genet A; 2017 Sep 01; 173(9):2439-2441. PubMed ID: 28631893
    [Abstract] [Full Text] [Related]

  • 13. 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]

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    [No Abstract] [Full Text] [Related]

  • 15. Cilia, ciliopathies and hedgehog-related forebrain developmental disorders.
    Andreu-Cervera A, Catala M, Schneider-Maunoury S.
    Neurobiol Dis; 2021 Mar 05; 150():105236. PubMed ID: 33383187
    [Abstract] [Full Text] [Related]

  • 16. TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family.
    Maglic D, Stephen J, Malicdan MC, Guo J, Fischer R, Konzman D, NISC Comparative Sequencing ProgramNIH Intramural Sequencing Center and Comparative Genomics Unit, Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland., Mullikin JC, Gahl WA, Vilboux T, Gunay-Aygun M.
    Hum Mutat; 2016 Nov 05; 37(11):1144-1148. PubMed ID: 27449316
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis.
    Surl D, Shin S, Lee ST, Choi JR, Lee J, Byeon SH, Han SH, Lim HT, Han J.
    Mol Vis; 2020 Oct 15; 26():26-35. PubMed ID: 32165824
    [Abstract] [Full Text] [Related]

  • 19. Compound heterozygous ADAMTS9 variants in Joubert syndrome-related disorders without renal manifestation.
    Matsushita HB, Hiraide T, Hayakawa K, Okano S, Nakashima M, Saitsu H, Kato M.
    Brain Dev; 2022 Feb 15; 44(2):161-165. PubMed ID: 34750010
    [Abstract] [Full Text] [Related]

  • 20. 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]

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