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Journal Abstract Search

427 related items for PubMed ID: 33383187

  • 1. Cilia, ciliopathies and hedgehog-related forebrain developmental disorders.
    Andreu-Cervera A, Catala M, Schneider-Maunoury S.
    Neurobiol Dis; 2021 Mar; 150():105236. PubMed ID: 33383187
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  • 5. Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.
    De Mori R, Romani M, D'Arrigo S, Zaki MS, Lorefice E, Tardivo S, Biagini T, Stanley V, Musaev D, Fluss J, Micalizzi A, Nuovo S, Illi B, Chiapparini L, Di Marcotullio L, Issa MY, Anello D, Casella A, Ginevrino M, Leggins AS, Roosing S, Alfonsi R, Rosati J, Schot R, Mancini GMS, Bertini E, Dobyns WB, Mazza T, Gleeson JG, Valente EM.
    Am J Hum Genet; 2017 Oct 05; 101(4):552-563. PubMed ID: 28965847
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  • 6. Hedgehog receptor function during craniofacial development.
    Xavier GM, Seppala M, Barrell W, Birjandi AA, Geoghegan F, Cobourne MT.
    Dev Biol; 2016 Jul 15; 415(2):198-215. PubMed ID: 26875496
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  • 7. 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 15; 11(10):e1005575. PubMed ID: 26485645
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  • 8. 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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  • 9. 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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  • 10. 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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  • 11. Zfp423 Regulates Sonic Hedgehog Signaling via Primary Cilium Function.
    Hong CJ, Hamilton BA.
    PLoS Genet; 2016 Oct 02; 12(10):e1006357. PubMed ID: 27727273
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  • 14. Genetic and phenotypic heterogeneity in KIAA0753-related ciliopathies.
    Inskeep KA, Zarate YA, Monteil D, Spranger J, Doherty D, Stottmann RW, Weaver KN.
    Am J Med Genet A; 2022 Jan 02; 188(1):104-115. PubMed ID: 34523780
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  • 15. [Hereditary cerebro-oculo-renal syndromes].
    Sessa G, Hjortshøj TD, Egfjord M.
    Ugeskr Laeger; 2014 Feb 17; 176(8A):V07130452. PubMed ID: 25350305
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  • 16. 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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  • 17. 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 Oct 15; 9(12):e1003977. PubMed ID: 24339792
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  • 18. 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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  • 20. Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.
    Asadollahi R, Strauss JE, Zenker M, Beuing O, Edvardson S, Elpeleg O, Strom TM, Joset P, Niedrist D, Otte C, Oneda B, Boonsawat P, Azzarello-Burri S, Bartholdi D, Papik M, Zweier M, Haas C, Ekici AB, Baumer A, Boltshauser E, Steindl K, Nothnagel M, Schinzel A, Stoeckli ET, Rauch A.
    Eur J Hum Genet; 2018 Feb 01; 26(2):197-209. PubMed ID: 29321670
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