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Journal Abstract Search

202 related items for PubMed ID: 21356043

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  • 2. Smoothened transduces Hedgehog signal by forming a complex with Evc/Evc2.
    Yang C, Chen W, Chen Y, Jiang J.
    Cell Res; 2012 Nov; 22(11):1593-604. PubMed ID: 22986504
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  • 6. 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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  • 7. EFCAB7 and IQCE regulate hedgehog signaling by tethering the EVC-EVC2 complex to the base of primary cilia.
    Pusapati GV, Hughes CE, Dorn KV, Zhang D, Sugianto P, Aravind L, Rohatgi R.
    Dev Cell; 2014 Mar 10; 28(5):483-96. PubMed ID: 24582806
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  • 9. Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia.
    Ruiz-Perez VL, Blair HJ, Rodriguez-Andres ME, Blanco MJ, Wilson A, Liu YN, Miles C, Peters H, Goodship JA.
    Development; 2007 Aug 10; 134(16):2903-12. PubMed ID: 17660199
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  • 11. Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.
    D'Asdia MC, Torrente I, Consoli F, Ferese R, Magliozzi M, Bernardini L, Guida V, Digilio MC, Marino B, Dallapiccola B, De Luca A.
    Eur J Med Genet; 2013 Feb 10; 56(2):80-7. PubMed ID: 23220543
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  • 12. Elevated Fibroblast Growth Factor Signaling Is Critical for the Pathogenesis of the Dwarfism in Evc2/Limbin Mutant Mice.
    Zhang H, Kamiya N, Tsuji T, Takeda H, Scott G, Rajderkar S, Ray MK, Mochida Y, Allen B, Lefebvre V, Hung IH, Ornitz DM, Kunieda T, Mishina Y.
    PLoS Genet; 2016 Dec 10; 12(12):e1006510. PubMed ID: 28027321
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  • 13. Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals.
    Aubert-Mucca M, Huber C, Baujat G, Michot C, Zarhrate M, Bras M, Boutaud L, Malan V, Attie-Bitach T, Clinical Contributors, Cormier-Daire V.
    J Med Genet; 2023 Apr 10; 60(4):337-345. PubMed ID: 35927022
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  • 15. Ellis-van Creveld Syndrome in Grey Alpine Cattle: Morphologic, Immunophenotypic, and Molecular Characterization.
    Muscatello LV, Benazzi C, Dittmer KE, Thompson KG, Murgiano L, Drögemüller C, Avallone G, Gentile A, Edwards JF, Piffer C, Bolcato M, Brunetti B.
    Vet Pathol; 2015 Sep 10; 52(5):957-66. PubMed ID: 26077781
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  • 20. A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family.
    Umm-E-Kalsoom, Wasif N, Tariq M, Ahmad W.
    Pediatr Int; 2010 Apr 10; 52(2):240-6. PubMed ID: 19744229
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