| Human-chimpanzee fused cells reveal cis-regulatory divergence underlying skeletal evolution. | Human-chimpanzee fused cells reveal cis-regulatory divergence underlying skeletal evolution.
Gokhman D, Agoglia RM, Kinnebrew M, Gordon W, Sun D, Bajpai VK, Naqvi S, Chen C, Chan A, Chen C, Petrov DA, Ahituv N, Zhang H, Mishina Y, Wysocka J, Rohatgi R, Fraser HB., Free PMC Article | 04/24/2021 |
| By comparing neural crest-specific Evc2 mutants with control mice, study demonstrated that the abnormalities within the mid-facial regions are not accounted for by the Evc2 mutation within these regions. | The Role of Ellis-Van Creveld 2(EVC2) in Mice During Cranial Bone Development.
Kwon EK, Louie K, Kulkarni A, Yatabe M, Ruellas ACO, Snider TN, Mochida Y, Cevidanes LHS, Mishina Y, Zhang H., Free PMC Article | 07/28/2018 |
| Loss of EVC2 is associated with facial bone growth defect. | Ellis Van Creveld2 is Required for Postnatal Craniofacial Bone Development.
Badri MK, Zhang H, Ohyama Y, Venkitapathi S, Kamiya N, Takeda H, Ray M, Scott G, Tsuji T, Kunieda T, Mishina Y, Mochida Y., Free PMC Article | 11/4/2017 |
| Mutations in Evc2 affect dental mesenchymal stem cell homeostasis, which further leads to hypomorphic enamel formation in mice. | Loss of Function of Evc2 in Dental Mesenchyme Leads to Hypomorphic Enamel.
Zhang H, Takeda H, Tsuji T, Kamiya N, Kunieda T, Mochida Y, Mishina Y., Free PMC Article | 06/3/2017 |
| Elevation of FGF signaling, mainly due to increased Fgf18 expression upon inactivation of Evc2 in the perichondrium, critically contributes to the pathogenesis of limb dwarfism. The limb dwarfism phenotype is partially rescued by inactivation of one allele of Fgf18 in the Evc2 mutant mice | 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., Free PMC Article | 05/13/2017 |
| This study identifies the types of Evc2-expressing cells in craniofacial tissues. Consistent with the expression pattern, abnormal craniofacial bone morphology was found in the Evc2 KO mice, suggesting that EVC2 may be important during craniofacial growth and development. | Expression of Evc2 in craniofacial tissues and craniofacial bone defects in Evc2 knockout mouse.
Badri MK, Zhang H, Ohyama Y, Venkitapathi S, Alamoudi A, Kamiya N, Takeda H, Ray M, Scott G, Tsuji T, Kunieda T, Mishina Y, Mochida Y., Free PMC Article | 04/1/2017 |
| data reveal that the Hh pathway involves Evc/Evc2-dependent modulations that are necessary for normal endochondral bone formation | 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. | 05/18/2013 |
| it is proposed that Hedgehog activates Smo by inducing its phosphorylation, which recruits Evc/Evc2 to activate Gli proteins by antagonizing Sufu in the primary cilia | Smoothened transduces Hedgehog signal by forming a complex with Evc/Evc2.
Yang C, Chen W, Chen Y, Jiang J., Free PMC Article | 05/18/2013 |
| Mutant Evc2 proteins that localize in cilia but are displaced from the EvC zone are dominant inhibitors of Hh signaling. | A Smoothened-Evc2 complex transduces the Hedgehog signal at primary cilia.
Dorn KV, Hughes CE, Rohatgi R., Free PMC Article | 02/9/2013 |
| We demonstrate for the first time that Evc2 is a positive regulator of the Hh signalling pathway and that it is located at the basal body of primary cilia. Evc2 is present in the cell nucleus suggesting movement of Evc2 between the cilium and nucleus. | 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., Free PMC Article | 06/18/2011 |
| The expression of a Weyer variant, but not the expression of a truncated protein that mimics an Ellis-van Creveld syndrome mutation, impairs Hedgehog signal transduction in NIH 3T3 cells in keeping with its dominant effect. | 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. | 02/8/2010 |
| EVC and LBN protein colocalize at the tip of the primary atrial septum during murine cardiac development. | Analysis of Ellis van Creveld syndrome gene products: implications for cardiovascular development and disease.
Sund KL, Roelker S, Ramachandran V, Durbin L, Benson DW., Free PMC Article | 01/21/2010 |