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Journal Abstract Search

200 related items for PubMed ID: 28631893

  • 21. 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; 9(12):e1003977. PubMed ID: 24339792
    [Abstract] [Full Text] [Related]

  • 22. Clinical and molecular characteristics of tectonic (TCTN1) gene-related Joubert syndrome in a Saudi boy.
    Shirah BH, Alshaikh NM, Shawli A, Naseer MI.
    Brain Dev; 2022 Apr; 44(4):299-302. PubMed ID: 34980503
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  • 23. Expanding horizons: ciliary proteins reach beyond cilia.
    Yuan S, Sun Z.
    Annu Rev Genet; 2013 Apr; 47():353-76. PubMed ID: 24016188
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  • 27. Dandy-Walker Malformation.
    Society for Maternal-Fetal Medicine (SMFM), Monteagudo A.
    Am J Obstet Gynecol; 2020 Dec; 223(6):B38-B41. PubMed ID: 33168220
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  • 29. [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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  • 30. Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
    Bruel AL, Franco B, Duffourd Y, Thevenon J, Jego L, Lopez E, Deleuze JF, Doummar D, Giles RH, Johnson CA, Huynen MA, Chevrier V, Burglen L, Morleo M, Desguerres I, Pierquin G, Doray B, Gilbert-Dussardier B, Reversade B, Steichen-Gersdorf E, Baumann C, Panigrahi I, Fargeot-Espaliat A, Dieux A, David A, Goldenberg A, Bongers E, Gaillard D, Argente J, Aral B, Gigot N, St-Onge J, Birnbaum D, Phadke SR, Cormier-Daire V, Eguether T, Pazour GJ, Herranz-Pérez V, Goldstein JS, Pasquier L, Loget P, Saunier S, Mégarbané A, Rosnet O, Leroux MR, Wallingford JB, Blacque OE, Nachury MV, Attie-Bitach T, Rivière JB, Faivre L, Thauvin-Robinet C.
    J Med Genet; 2017 Jun 17; 54(6):371-380. PubMed ID: 28289185
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  • 31. 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
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  • 34. Tectonic gene mutations in patients with Joubert syndrome.
    Huppke P, Wegener E, Böhrer-Rabel H, Bolz HJ, Zoll B, Gärtner J, Bergmann C.
    Eur J Hum Genet; 2015 May 15; 23(5):616-20. PubMed ID: 25118024
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  • 35. A novel variant in C5ORF42 gene is associated with Joubert syndrome.
    Mardani R, Taghizadeh E, Taheri F, Raeisi M, Karimzadeh MR, Rostami D, Ferns GA, Ghayour-Mobarhan M.
    Mol Biol Rep; 2020 May 15; 47(5):4099-4103. PubMed ID: 32367316
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  • 36. OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment.
    Thauvin-Robinet C, Thomas S, Sinico M, Aral B, Burglen L, Gigot N, Dollfus H, Rossignol S, Raynaud M, Philippe C, Badens C, Touraine R, Gomes C, Franco B, Lopez E, Elkhartoufi N, Faivre L, Munnich A, Boddaert N, Van Maldergem L, Encha-Razavi F, Lyonnet S, Vekemans M, Escudier E, Attié-Bitach T.
    Clin Genet; 2013 Jul 15; 84(1):86-90. PubMed ID: 23036093
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  • 37. Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome.
    Roosing S, Rosti RO, Rosti B, de Vrieze E, Silhavy JL, van Wijk E, Wakeling E, Gleeson JG.
    Hum Genet; 2016 Aug 15; 135(8):919-921. PubMed ID: 27245168
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  • 38. 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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  • 39. Diagnostic use of computational retrotransposon detection: Successful definition of pathogenetic mechanism in a ciliopathy phenotype.
    Takenouchi T, Kuchikata T, Yoshihashi H, Fujiwara M, Uehara T, Miyama S, Yamada S, Kosaki K.
    Am J Med Genet A; 2017 May 15; 173(5):1353-1357. PubMed ID: 28374938
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  • 40. 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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