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Journal Abstract Search

396 related items for PubMed ID: 28973549

  • 1. 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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  • 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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  • 4. Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model.
    Ramsbottom SA, Molinari E, Srivastava S, Silberman F, Henry C, Alkanderi S, Devlin LA, White K, Steel DH, Saunier S, Miles CG, Sayer JA.
    Proc Natl Acad Sci U S A; 2018 Dec 04; 115(49):12489-12494. PubMed ID: 30446612
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  • 7. 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 04; 125(9):3657-66. PubMed ID: 26301811
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  • 8. 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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  • 9. 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 01; 11(10):e1005575. PubMed ID: 26485645
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  • 10. 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
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  • 11. 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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  • 14. A rare mutant of OFD1 gene responsible for Joubert syndrome with significant phenotype variation.
    Zhang YW, Qu HB, Long N, Leng XY, Liu YQ, Yang Y.
    Mol Genet Genomics; 2021 Jan 10; 296(1):33-40. PubMed ID: 32944789
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  • 17. Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.
    Epting D, Senaratne LDS, Ott E, Holmgren A, Sumathipala D, Larsen SM, Wallmeier J, Bracht D, Frikstad KM, Crowley S, Sikiric A, Barøy T, Käsmann-Kellner B, Decker E, Decker C, Bachmann N, Patzke S, Phelps IG, Katsanis N, Giles R, Schmidts M, Zucknick M, Lienkamp SS, Omran H, Davis EE, Doherty D, Strømme P, Frengen E, Bergmann C, Misceo D.
    Hum Mutat; 2020 Dec 10; 41(12):2179-2194. PubMed ID: 33131181
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  • 18. KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.
    Sanders AA, de Vrieze E, Alazami AM, Alzahrani F, Malarkey EB, Sorusch N, Tebbe L, Kuhns S, van Dam TJ, Alhashem A, Tabarki B, Lu Q, Lambacher NJ, Kennedy JE, Bowie RV, Hetterschijt L, van Beersum S, van Reeuwijk J, Boldt K, Kremer H, Kesterson RA, Monies D, Abouelhoda M, Roepman R, Huynen MH, Ueffing M, Russell RB, Wolfrum U, Yoder BK, van Wijk E, Alkuraya FS, Blacque OE.
    Genome Biol; 2015 Dec 29; 16():293. PubMed ID: 26714646
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  • 20. Primary cilia formation requires the Leigh syndrome-associated mitochondrial protein NDUFAF2.
    Lo CH, Liu Z, Chen S, Lin F, Berneshawi AR, Yu CQ, Koo EB, Kowal TJ, Ning K, Hu Y, Wang WJ, Liao YJ, Sun Y.
    J Clin Invest; 2024 Jul 01; 134(13):. PubMed ID: 38949024
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