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Journal Abstract Search

217 related items for PubMed ID: 37384395

  • 1. Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome.
    Bruel AL, Ganga AK, Nosková L, Valenzuela I, Martinovic J, Duffourd Y, Zikánová M, Majer F, Kmoch S, Mohler M, Sun J, Sweeney LK, Martínez-Gil N, Thauvin-Robinet C, Breslow DK.
    Hum Mol Genet; 2023 Sep 05; 32(18):2822-2831. PubMed ID: 37384395
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  • 5. Expanding the genetic landscape of oral-facial-digital syndrome with two novel genes.
    Strong A, Simone L, Krentz A, Vaccaro C, Watson D, Ron H, Kalish JM, Pedro HF, Zackai EH, Hakonarson H.
    Am J Med Genet A; 2021 Aug 05; 185(8):2409-2416. PubMed ID: 34132027
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  • 7. A comprehensive analysis of Rab GTPases reveals a role for Rab34 in serum starvation-induced primary ciliogenesis.
    Oguchi ME, Okuyama K, Homma Y, Fukuda M.
    J Biol Chem; 2020 Sep 04; 295(36):12674-12685. PubMed ID: 32669361
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  • 8. INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex.
    Mascibroda LG, Shboul M, Elrod ND, Colleaux L, Hamamy H, Huang KL, Peart N, Singh MK, Lee H, Merriman B, Jodoin JN, Sitaram P, Lee LA, Fathalla R, Al-Rawashdeh B, Ababneh O, El-Khateeb M, Escande-Beillard N, Nelson SF, Wu Y, Tong L, Kenney LJ, Roy S, Russell WK, Amiel J, Reversade B, Wagner EJ.
    Nat Commun; 2022 Oct 13; 13(1):6054. PubMed ID: 36229431
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  • 10. Whole-exome sequencing identified novel variants in CPLANE1 that causes oral-facial-digital syndrome Ⅵ by inducing primary cilia abnormality.
    Qian W, Liu X, Wang Z, Xu Y, Zhang J, Li H, Zhong Q, Li C, Zhu L, Zhou Z, Pan W.
    J Cell Mol Med; 2022 Jun 13; 26(11):3213-3222. PubMed ID: 35582950
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  • 12. INTU-related oral-facial-digital syndrome XVII: Clinical spectrum of a rare disorder.
    Yakar O, Tatar A.
    Am J Med Genet A; 2022 Feb 13; 188(2):590-594. PubMed ID: 34623732
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  • 13. Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.
    Thevenon J, Duplomb L, Phadke S, Eguether T, Saunier A, Avila M, Carmignac V, Bruel AL, St-Onge J, Duffourd Y, Pazour GJ, Franco B, Attie-Bitach T, Masurel-Paulet A, Rivière JB, Cormier-Daire V, Philippe C, Faivre L, Thauvin-Robinet C.
    Clin Genet; 2016 Dec 13; 90(6):509-517. PubMed ID: 27060890
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  • 16. Whole-Organism Developmental Expression Profiling Identifies RAB-28 as a Novel Ciliary GTPase Associated with the BBSome and Intraflagellar Transport.
    Jensen VL, Carter S, Sanders AA, Li C, Kennedy J, Timbers TA, Cai J, Scheidel N, Kennedy BN, Morin RD, Leroux MR, Blacque OE.
    PLoS Genet; 2016 Dec 13; 12(12):e1006469. PubMed ID: 27930654
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  • 17. Update on oral-facial-digital syndromes (OFDS).
    Franco B, Thauvin-Robinet C.
    Cilia; 2016 Dec 13; 5():12. PubMed ID: 27141300
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  • 18. Heterogeneity and variability in the oral-facial-digital syndromes.
    Toriello HV.
    Am J Med Genet Suppl; 1988 Dec 13; 4():149-59. PubMed ID: 3144982
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