| RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31. | RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31.
Marshall AE, Lemire G, Liang Y, Davila J, Couse M, Care4Rare Canada Consortium, Boycott KM, Kernohan KD. | 03/11/2024 |
| CEP120-mediated KIAA0753 recruitment onto centrioles is required for timely neuronal differentiation and germinal zone exit in the developing cerebellum. | CEP120-mediated KIAA0753 recruitment onto centrioles is required for timely neuronal differentiation and germinal zone exit in the developing cerebellum.
Chang CH, Chen TY, Lu IL, Li RB, Tsai JJ, Lin PY, Tang TK., Free PMC Article | 04/9/2022 |
| Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies. | Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.
Barroso-Gil M, Olinger E, Ramsbottom SA, Molinari E, Miles CG, Sayer JA., Free PMC Article | 03/26/2022 |
| Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development. | Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development.
Powell L, Barroso-Gil M, Clowry GJ, Devlin LA, Molinari E, Ramsbottom SA, Miles CG, Sayer JA., Free PMC Article | 10/2/2021 |
| Exome sequencing links CEP120 mutation to maternally derived aneuploid conception risk. | Exome sequencing links CEP120 mutation to maternally derived aneuploid conception risk.
Tyc KM, El Yakoubi W, Bag A, Landis J, Zhan Y, Treff NR, Scott RT, Tao X, Schindler K, Xing J., Free PMC Article | 05/8/2021 |
| CEP120 interacts with C2CD3 and Talpid3 and is required for centriole appendage assembly and ciliogenesis. | CEP120 interacts with C2CD3 and Talpid3 and is required for centriole appendage assembly and ciliogenesis.
Tsai JJ, Hsu WB, Liu JH, Chang CW, Tang TK., Free PMC Article | 10/10/2020 |
| the ciliopathy-associated centriolar protein CEP120 contains three C2 domains. | Disease-Associated Mutations in CEP120 Destabilize the Protein and Impair Ciliogenesis.
Joseph N, Al-Jassar C, Johnson CM, Andreeva A, Barnabas DD, Freund SMV, Gergely F, van Breugel M., Free PMC Article | 11/9/2019 |
| These results indicate that Cep120 helps to maintain centrosome homeostasis by inhibiting untimely maturation of the daughter centriole, and defines a potentially new molecular defect underlying the pathogenesis of ciliopathies such as Jeune Asphyxiating Thoracic Dystrophy and Joubert syndrome. | A novel Cep120-dependent mechanism inhibits centriole maturation in quiescent cells.
Betleja E, Nanjundappa R, Cheng T, Mahjoub MR., Free PMC Article | 05/18/2019 |
| The CEP120-associated phenotype ranges from mild classical JS in four patients to more severe conditions in two fetuses. | Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.
Roosing S, Romani M, Isrie M, Rosti RO, Micalizzi A, Musaev D, Mazza T, Al-Gazali L, Altunoglu U, Boltshauser E, D'Arrigo S, De Keersmaecker B, Kayserili H, Brandenberger S, Kraoua I, Mark PR, McKanna T, Van Keirsbilck J, Moerman P, Poretti A, Puri R, Van Esch H, Gleeson JG, Valente EM., Free PMC Article | 11/4/2017 |
| We establish a novel locus for Jeune asphyxiating thoracic dystrophy on 5q23.2 by linkage analysis and demonstrate that a mutation in CEP120 within this locus is the most likely cause of the disease. | A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.
Shaheen R, Schmidts M, Faqeih E, Hashem A, Lausch E, Holder I, Superti-Furga A, UK10K Consortium, Mitchison HM, Almoisheer A, Alamro R, Alshiddi T, Alzahrani F, Beales PL, Alkuraya FS., Free PMC Article | 11/21/2015 |
| CEP120 associates with SPICE1 and CPAP, and depletion of any of these proteins results in short procentrioles. Furthermore, CEP120 or CPAP overexpression results in excessive centriole elongation, a process dependent on CEP120, SPICE1, and CPAP. | CEP120 and SPICE1 cooperate with CPAP in centriole elongation.
Comartin D, Gupta GD, Fussner E, Coyaud É, Hasegan M, Archinti M, Cheung SW, Pinchev D, Lawo S, Raught B, Bazett-Jones DP, Lüders J, Pelletier L. | 03/15/2014 |
| CEP120 is a CPAP-interacting protein that positively regulates centriole elongation. | CEP120 interacts with CPAP and positively regulates centriole elongation.
Lin YN, Wu CT, Lin YC, Hsu WB, Tang CJ, Chang CW, Tang TK., Free PMC Article | 09/28/2013 |
| Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator) | Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.
Vasan RS, Glazer NL, Felix JF, Lieb W, Wild PS, Felix SB, Watzinger N, Larson MG, Smith NL, Dehghan A, Grosshennig A, Schillert A, Teumer A, Schmidt R, Kathiresan S, Lumley T, Aulchenko YS, König IR, Zeller T, Homuth G, Struchalin M, Aragam J, Bis JC, Rivadeneira F, Erdmann J, Schnabel RB, Dörr M, Zweiker R, Lind L, Rodeheffer RJ, Greiser KH, Levy D, Haritunians T, Deckers JW, Stritzke J, Lackner KJ, Völker U, Ingelsson E, Kullo I, Haerting J, O'Donnell CJ, Heckbert SR, Stricker BH, Ziegler A, Reffelmann T, Redfield MM, Werdan K, Mitchell GF, Rice K, Arnett DK, Hofman A, Gottdiener JS, Uitterlinden AG, Meitinger T, Blettner M, Friedrich N, Wang TJ, Psaty BM, van Duijn CM, Wichmann HE, Munzel TF, Kroemer HK, Benjamin EJ, Rotter JI, Witteman JC, Schunkert H, Schmidt H, Völzke H, Blankenberg S., Free PMC Article | 01/20/2010 |
| Functional characterization of the homologous mouse gene, and comparison to the human protein. | Cep120 and TACCs control interkinetic nuclear migration and the neural progenitor pool.
Xie Z, Moy LY, Sanada K, Zhou Y, Buchman JJ, Tsai LH., Free PMC Article | 10/9/2009 |