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Journal Abstract Search

219 related items for PubMed ID: 24360807

  • 1. Mutations in CSPP1 lead to classical Joubert syndrome.
    Akizu N, Silhavy JL, Rosti RO, Scott E, Fenstermaker AG, Schroth J, Zaki MS, Sanchez H, Gupta N, Kabra M, Kara M, Ben-Omran T, Rosti B, Guemez-Gamboa A, Spencer E, Pan R, Cai N, Abdellateef M, Gabriel S, Halbritter J, Hildebrandt F, van Bokhoven H, Gunel M, Gleeson JG.
    Am J Hum Genet; 2014 Jan 02; 94(1):80-6. PubMed ID: 24360807
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  • 3. Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.
    Shaheen R, Shamseldin HE, Loucks CM, Seidahmed MZ, Ansari S, Ibrahim Khalil M, Al-Yacoub N, Davis EE, Mola NA, Szymanska K, Herridge W, Chudley AE, Chodirker BN, Schwartzentruber J, Majewski J, Katsanis N, Poizat C, Johnson CA, Parboosingh J, Boycott KM, Innes AM, Alkuraya FS.
    Am J Hum Genet; 2014 Jan 02; 94(1):73-9. PubMed ID: 24360803
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  • 4. 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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  • 5. 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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  • 6. Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes.
    Malicdan MC, Vilboux T, Stephen J, Maglic D, Mian L, Konzman D, Guo J, Yildirimli D, Bryant J, Fischer R, Zein WM, Snow J, Vemulapalli M, Mullikin JC, Toro C, Solomon BD, Niederhuber JE, NISC Comparative Sequencing Program, Gahl WA, Gunay-Aygun M.
    J Med Genet; 2015 Dec 29; 52(12):830-9. PubMed ID: 26386044
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  • 7. 8q13.1-q13.2 deletion associated with inferior cerebellar vermian hypoplasia and digital anomalies: a new syndrome?
    Mordaunt D, Oftedal BE, McLauchlan A, Coates D, Waters W, Scott H, Barnett C.
    Pediatr Neurol; 2015 Feb 29; 52(2):230-4.e1. PubMed ID: 25693585
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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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  • 9. MKS1 regulates ciliary INPP5E levels in Joubert syndrome.
    Slaats GG, Isabella CR, Kroes HY, Dempsey JC, Gremmels H, Monroe GR, Phelps IG, Duran KJ, Adkins J, Kumar SA, Knutzen DM, Knoers NV, Mendelsohn NJ, Neubauer D, Mastroyianni SD, Vogt J, Worgan L, Karp N, Bowdin S, Glass IA, Parisi MA, Otto EA, Johnson CA, Hildebrandt F, van Haaften G, Giles RH, Doherty D.
    J Med Genet; 2016 Jan 09; 53(1):62-72. PubMed ID: 26490104
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  • 10. Arima syndrome caused by CEP290 specific variant and accompanied with pathological cilium; clinical comparison with Joubert syndrome and its related diseases.
    Itoh M, Ide S, Iwasaki Y, Saito T, Narita K, Dai H, Yamakura S, Furue T, Kitayama H, Maeda K, Takahashi E, Matsui K, Goto YI, Takeda S, Arima M.
    Brain Dev; 2018 Apr 09; 40(4):259-267. PubMed ID: 29217415
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  • 13. Joubert syndrome and related disorders.
    Valente EM, Dallapiccola B, Bertini E.
    Handb Clin Neurol; 2013 Apr 09; 113():1879-88. PubMed ID: 23622411
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  • 16. 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
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  • 20. 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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