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PUBMED FOR HANDHELDS

Journal Abstract Search

129 related items for 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; 9(12):e1003977. PubMed ID: 24339792
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  • 5. TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.
    Lambacher NJ, Bruel AL, van Dam TJ, Szymańska K, Slaats GG, Kuhns S, McManus GJ, Kennedy JE, Gaff K, Wu KM, van der Lee R, Burglen L, Doummar D, Rivière JB, Faivre L, Attié-Bitach T, Saunier S, Curd A, Peckham M, Giles RH, Johnson CA, Huynen MA, Thauvin-Robinet C, Blacque OE.
    Nat Cell Biol; 2016 Jan; 18(1):122-31. PubMed ID: 26595381
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  • 8. Ciliopathies and the Kidney: A Review.
    McConnachie DJ, Stow JL, Mallett AJ.
    Am J Kidney Dis; 2021 Mar; 77(3):410-419. PubMed ID: 33039432
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  • 9. 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
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  • 13. 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 10; 288(19):13676-94. PubMed ID: 23532844
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  • 15. Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies.
    Damerla RR, Cui C, Gabriel GC, Liu X, Craige B, Gibbs BC, Francis R, Li Y, Chatterjee B, San Agustin JT, Eguether T, Subramanian R, Witman GB, Michaud JL, Pazour GJ, Lo CW.
    Hum Mol Genet; 2015 Jul 15; 24(14):3994-4005. PubMed ID: 25877302
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  • 17. MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis.
    Williams CL, Li C, Kida K, Inglis PN, Mohan S, Semenec L, Bialas NJ, Stupay RM, Chen N, Blacque OE, Yoder BK, Leroux MR.
    J Cell Biol; 2011 Mar 21; 192(6):1023-41. PubMed ID: 21422230
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  • 19. Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts.
    Molinari E, Ramsbottom SA, Srivastava S, Booth P, Alkanderi S, McLafferty SM, Devlin LA, White K, Gunay-Aygun M, Miles CG, Sayer JA.
    Sci Rep; 2019 Jul 25; 9(1):10828. PubMed ID: 31346239
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  • 20. Interpreting the pathogenicity of Joubert syndrome missense variants in Caenorhabditis elegans.
    Lange KI, Tsiropoulou S, Kucharska K, Blacque OE.
    Dis Model Mech; 2021 Jan 01; 14(1):. PubMed ID: 33234550
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