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Journal Abstract Search

270 related items for PubMed ID: 26301811

  • 21. 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; 41(12):2179-2194. PubMed ID: 33131181
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  • 22. CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium.
    Kim J, Krishnaswami SR, Gleeson JG.
    Hum Mol Genet; 2008 Dec 01; 17(23):3796-805. PubMed ID: 18772192
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  • 23. CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
    Gorden NT, Arts HH, Parisi MA, Coene KL, Letteboer SJ, van Beersum SE, Mans DA, Hikida A, Eckert M, Knutzen D, Alswaid AF, Ozyurek H, Dibooglu S, Otto EA, Liu Y, Davis EE, Hutter CM, Bammler TK, Farin FM, Dorschner M, Topçu M, Zackai EH, Rosenthal P, Owens KN, Katsanis N, Vincent JB, Hildebrandt F, Rubel EW, Raible DW, Knoers NV, Chance PF, Roepman R, Moens CB, Glass IA, Doherty D.
    Am J Hum Genet; 2008 Nov 01; 83(5):559-71. PubMed ID: 18950740
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  • 24. Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis.
    Hynes AM, Giles RH, Srivastava S, Eley L, Whitehead J, Danilenko M, Raman S, Slaats GG, Colville JG, Ajzenberg H, Kroes HY, Thelwall PE, Simmons NL, Miles CG, Sayer JA.
    Proc Natl Acad Sci U S A; 2014 Jul 08; 111(27):9893-8. PubMed ID: 24946806
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  • 25. Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome.
    Latour BL, Van De Weghe JC, Rusterholz TD, Letteboer SJ, Gomez A, Shaheen R, Gesemann M, Karamzade A, Asadollahi M, Barroso-Gil M, Chitre M, Grout ME, van Reeuwijk J, van Beersum SE, Miller CV, Dempsey JC, Morsy H, University of Washington Center for Mendelian Genomics, Bamshad MJ, Genomics England Research Consortium, Nickerson DA, Neuhauss SC, Boldt K, Ueffing M, Keramatipour M, Sayer JA, Alkuraya FS, Bachmann-Gagescu R, Roepman R, Doherty D.
    J Clin Invest; 2020 Aug 03; 130(8):4423-4439. PubMed ID: 32453716
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  • 26. Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome.
    Altieri F, D'Anzi A, Martello F, Tardivo S, Spasari I, Ferrari D, Bernardini L, Lamorte G, Mazzoccoli G, Valente EM, Vescovi AL, Rosati J.
    Stem Cell Res; 2019 Jul 03; 38():101480. PubMed ID: 31202121
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  • 33. Mutation of POC1B in a severe syndromic retinal ciliopathy.
    Beck BB, Phillips JB, Bartram MP, Wegner J, Thoenes M, Pannes A, Sampson J, Heller R, Göbel H, Koerber F, Neugebauer A, Hedergott A, Nürnberg G, Nürnberg P, Thiele H, Altmüller J, Toliat MR, Staubach S, Boycott KM, Valente EM, Janecke AR, Eisenberger T, Bergmann C, Tebbe L, Wang Y, Wu Y, Fry AM, Westerfield M, Wolfrum U, Bolz HJ.
    Hum Mutat; 2014 Oct 03; 35(10):1153-62. PubMed ID: 25044745
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  • 34. Ciliopathies and the Kidney: A Review.
    McConnachie DJ, Stow JL, Mallett AJ.
    Am J Kidney Dis; 2021 Mar 03; 77(3):410-419. PubMed ID: 33039432
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  • 35. The centriolar satellite proteins Cep72 and Cep290 interact and are required for recruitment of BBS proteins to the cilium.
    Stowe TR, Wilkinson CJ, Iqbal A, Stearns T.
    Mol Biol Cell; 2012 Sep 03; 23(17):3322-35. PubMed ID: 22767577
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  • 37. 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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  • 38. 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 29; 296(1):33-40. PubMed ID: 32944789
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