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Journal Abstract Search

260 related items for PubMed ID: 24582806

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  • 5. Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands.
    Ruiz-Perez VL, Goodship JA.
    Am J Med Genet C Semin Med Genet; 2009 Nov 15; 151C(4):341-51. PubMed ID: 19876929
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  • 8. Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly.
    Bilal M, Khan H, Khan MJ, Haack TB, Buchert R, Liaqat K, Ullah K, Ahmed S, Bharadwaj T, Acharya A, Peralta S, Najumuddin, Ali H, Hasni MS, Schrauwen I, Ullah A, Ahmad W, Leal SM.
    Eur J Hum Genet; 2023 Nov 15; 31(11):1270-1274. PubMed ID: 37684519
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  • 10. Bifurcating action of Smoothened in Hedgehog signaling is mediated by Dlg5.
    Chong YC, Mann RK, Zhao C, Kato M, Beachy PA.
    Genes Dev; 2015 Feb 01; 29(3):262-76. PubMed ID: 25644602
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  • 11. Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.
    Valencia M, Lapunzina P, Lim D, Zannolli R, Bartholdi D, Wollnik B, Al-Ajlouni O, Eid SS, Cox H, Buoni S, Hayek J, Martinez-Frias ML, Antonio PA, Temtamy S, Aglan M, Goodship JA, Ruiz-Perez VL.
    Hum Mutat; 2009 Dec 01; 30(12):1667-75. PubMed ID: 19810119
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  • 12. Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome.
    Nguyen TQ, Saitoh M, Trinh HT, Doan NM, Mizuno Y, Seki M, Sato Y, Ogawa S, Mizuguchi M.
    Congenit Anom (Kyoto); 2016 Sep 01; 56(5):209-16. PubMed ID: 26748586
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  • 13. Intraflagellar transport protein 122 antagonizes Sonic Hedgehog signaling and controls ciliary localization of pathway components.
    Qin J, Lin Y, Norman RX, Ko HW, Eggenschwiler JT.
    Proc Natl Acad Sci U S A; 2011 Jan 25; 108(4):1456-61. PubMed ID: 21209331
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  • 14. Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium.
    Caparrós-Martín JA, De Luca A, Cartault F, Aglan M, Temtamy S, Otaify GA, Mehrez M, Valencia M, Vázquez L, Alessandri JL, Nevado J, Rueda-Arenas I, Heath KE, Digilio MC, Dallapiccola B, Goodship JA, Mill P, Lapunzina P, Ruiz-Perez VL.
    Hum Mol Genet; 2015 Jul 15; 24(14):4126-37. PubMed ID: 25908617
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  • 15. Interaction of smoothened with integrin-linked kinase in primary cilia mediates Hedgehog signalling.
    Barakat B, Yu L, Lo C, Vu D, De Luca E, Cain JE, Martelotto LG, Dedhar S, Sadler AJ, Wang D, Watkins DN, Hannigan GE.
    EMBO Rep; 2013 Sep 15; 14(9):837-44. PubMed ID: 23877428
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  • 16. Kinetics of hedgehog-dependent full-length Gli3 accumulation in primary cilia and subsequent degradation.
    Wen X, Lai CK, Evangelista M, Hongo JA, de Sauvage FJ, Scales SJ.
    Mol Cell Biol; 2010 Apr 15; 30(8):1910-22. PubMed ID: 20154143
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