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Journal Abstract Search

189 related items for PubMed ID: 38231387

  • 1. 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; 242(3):619-637. PubMed ID: 38231387
    [Abstract] [Full Text] [Related]

  • 2. 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
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  • 3. 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
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  • 4. Ciliopathies and the Kidney: A Review.
    McConnachie DJ, Stow JL, Mallett AJ.
    Am J Kidney Dis; 2021 Mar 31; 77(3):410-419. PubMed ID: 33039432
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  • 5. 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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  • 6. 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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  • 7. 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]

  • 8. 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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  • 9. 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 Dec 01; 9(12):e1003977. PubMed ID: 24339792
    [Abstract] [Full Text] [Related]

  • 10. 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
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  • 12. Roles of TOG and jelly-roll domains of centrosomal protein CEP104 in its functions in cilium elongation and Hedgehog signaling.
    Yamazoe T, Nagai T, Umeda S, Sugaya Y, Mizuno K.
    J Biol Chem; 2020 Oct 23; 295(43):14723-14736. PubMed ID: 32820051
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. 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
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  • 16. 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 15; 18(1):122-31. PubMed ID: 26595381
    [Abstract] [Full Text] [Related]

  • 17. 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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