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Journal Abstract Search

188 related items for PubMed ID: 35137054

  • 1. The ciliary transition zone protein TMEM218 synergistically interacts with the NPHP module and its reduced dosage leads to a wide range of syndromic ciliopathies.
    Epting D, Decker E, Ott E, Eisenberger T, Bader I, Bachmann N, Bergmann C.
    Hum Mol Genet; 2022 Jul 21; 31(14):2295-2306. PubMed ID: 35137054
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  • 2. 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
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  • 3. 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 Aug 06; 9(12):e1003977. PubMed ID: 24339792
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  • 5. 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
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  • 8. 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 09; 89(6):713-30. PubMed ID: 22152675
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  • 11. A Screen for Modifiers of Cilia Phenotypes Reveals Novel MKS Alleles and Uncovers a Specific Genetic Interaction between osm-3 and nphp-4.
    Masyukova SV, Landis DE, Henke SJ, Williams CL, Pieczynski JN, Roszczynialski KN, Covington JE, Malarkey EB, Yoder BK.
    PLoS Genet; 2016 Feb 09; 12(2):e1005841. PubMed ID: 26863025
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  • 19. MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone.
    Li C, Jensen VL, Park K, Kennedy J, Garcia-Gonzalo FR, Romani M, De Mori R, Bruel AL, Gaillard D, Doray B, Lopez E, Rivière JB, Faivre L, Thauvin-Robinet C, Reiter JF, Blacque OE, Valente EM, Leroux MR.
    PLoS Biol; 2016 Mar 09; 14(3):e1002416. PubMed ID: 26982032
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  • 20. 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 09; 29(5):299-307. PubMed ID: 26003401
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