BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

181 related articles for article (PubMed ID: 37576597)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 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. 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]  

  • 7. A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis.
    Ye X; Song G; Fan M; Shi L; Jabs EW; Huang S; Guo R; Bian Z
    Hum Genet; 2006 Mar; 119(1-2):199-205. PubMed ID: 16404586
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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; 31(11):1270-1274. PubMed ID: 37684519
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.
    Altunoglu U; Palencia-Campos A; Güneş N; Turgut GT; Nevado J; Lapunzina P; Valencia M; Iturrate A; Otaify G; Elhossini R; Ashour A; K Amin A; Elnahas RF; Fernandez-Nuñez E; Flores CL; Arias P; Tenorio J; Chamorro Fernández CI; Güven Y; Özsu E; Eklioğlu BS; Ibarra-Ramirez M; Diness BR; Burnyte B; Ajmi H; Yüksel Z; Yıldırım R; Ünal E; Abdalla E; Aglan M; Kayserili H; Tuysuz B; Ruiz-Pérez V
    J Med Genet; 2024 Mar; ():. PubMed ID: 38531627
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome.
    Shi L; Luo C; Ahmed MK; Attaie AB; Ye X
    Mol Genet Genomics; 2016 Apr; 291(2):863-72. PubMed ID: 26621368
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Ciliary disorder of the skeleton.
    Huber C; Cormier-Daire V
    Am J Med Genet C Semin Med Genet; 2012 Aug; 160C(3):165-74. PubMed ID: 22791528
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.