BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

205 related articles for article (PubMed ID: 21356043)

  • 1. Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus.
    Blair HJ; Tompson S; Liu YN; Campbell J; MacArthur K; Ponting CP; Ruiz-Perez VL; Goodship JA
    BMC Biol; 2011 Feb; 9():14. PubMed ID: 21356043
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia.
    Caparrós-Martín JA; Valencia M; Reytor E; Pacheco M; Fernandez M; Perez-Aytes A; Gean E; Lapunzina P; Peters H; Goodship JA; Ruiz-Perez VL
    Hum Mol Genet; 2013 Jan; 22(1):124-39. PubMed ID: 23026747
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 151C(4):341-51. PubMed ID: 19876929
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Role of primary cilia and Hedgehog signaling in craniofacial features of Ellis-van Creveld syndrome.
    Thomas DC; Moorthy JD; Prabhakar V; Ajayakumar A; Pitchumani PK
    Am J Med Genet C Semin Med Genet; 2022 Mar; 190(1):36-46. PubMed ID: 35393766
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 24(14):4126-37. PubMed ID: 25908617
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 28(5):483-96. PubMed ID: 24582806
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A Smoothened-Evc2 complex transduces the Hedgehog signal at primary cilia.
    Dorn KV; Hughes CE; Rohatgi R
    Dev Cell; 2012 Oct; 23(4):823-35. PubMed ID: 22981989
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 134(16):2903-12. PubMed ID: 17660199
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 30(12):1667-75. PubMed ID: 19810119
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 56(2):80-7. PubMed ID: 23220543
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 12(12):e1006510. PubMed ID: 28027321
    [TBL] [Abstract][Full Text] [Related]  

  • 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; ; Cormier-Daire V
    J Med Genet; 2023 Apr; 60(4):337-345. PubMed ID: 35927022
    [TBL] [Abstract][Full Text] [Related]  

  • 14. EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO.
    Barbeito P; Martin-Morales R; Palencia-Campos A; Cerrolaza J; Rivas-Santos C; Gallego-Colastra L; Caparros-Martin JA; Martin-Bravo C; Martin-Hurtado A; Sánchez-Bellver L; Marfany G; Ruiz-Perez VL; Garcia-Gonzalo FR
    Front Cell Dev Biol; 2023; 11():1190258. PubMed ID: 37576597
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 52(5):957-66. PubMed ID: 26077781
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 56(5):209-16. PubMed ID: 26748586
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel homozygous mutations in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis-van Creveld syndrome.
    Aziz A; Raza SI; Ali S; Ahmad W
    Clin Dysmorphol; 2016 Jan; 25(1):1-6. PubMed ID: 26580685
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Identification of Compound Heterozygous
    Negrete-Torres N; Chima-Galán MDC; Sierra-López EA; Sánchez-Ramos J; Álvarez-González I; Reyes-Reali J; Mendoza-Ramos MI; Garrido-Guerrero E; Amato D; Méndez-Catalá CF; Pozo-Molina G; Méndez-Cruz AR
    Genes (Basel); 2023 Apr; 14(4):. PubMed ID: 37107645
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Blocking chondrocyte hypertrophy in conditional Evc knockout mice does not modify cartilage damage in osteoarthritis.
    Lamuedra A; Gratal P; Calatrava L; Ruiz-Perez VL; Palencia-Campos A; Portal-Núñez S; Mediero A; Herrero-Beaumont G; Largo R
    FASEB J; 2022 Apr; 36(4):e22258. PubMed ID: 35334131
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 52(2):240-6. PubMed ID: 19744229
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.