| Cep57 regulates human centrosomes through multivalent interactions. | Cep57 regulates human centrosomes through multivalent interactions.
Yeh HW, Chen PP, Yeh TC, Lin SL, Chen YT, Lin WP, Chen T, Pang JM, Lin KT, Wang LH, Lin YC, Shih O, Jeng US, Hsia KC, Cheng HC., Free PMC Article | 09/4/2024 |
| Mosaic variegated aneuploidy syndrome 2 with biallelic novel CEP57 splice site variation in Indian siblings: Expanding the clinical and molecular spectrum. | Mosaic variegated aneuploidy syndrome 2 with biallelic novel CEP57 splice site variation in Indian siblings: Expanding the clinical and molecular spectrum.
Langeh N, Saluja S, Ethayathulla AS, Jana M, Shukla R, Palanichamy JK, Gupta N. | 03/7/2023 |
| Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype. | Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype.
Santos-Simarro F, Pacio M, Cueto-González AM, Mansilla E, Valenzuela-Palafoll MI, López-Grondona F, Lledín MD, Schuffelmann C, Del Pozo Á, Solis M, Vallcorba P, Lapunzina P, Menéndez Suso JJ, Siccha SM, Montejo JM, Mena R, Jiménez-Rodríguez C, García-Miñaúr S, Palomares-Bralo M. | 01/15/2022 |
| Cep57 and Cep57L1 maintain centriole engagement in interphase to ensure centriole duplication cycle. | Cep57 and Cep57L1 maintain centriole engagement in interphase to ensure centriole duplication cycle.
Ito KK, Watanabe K, Ishida H, Matsuhashi K, Chinen T, Hata S, Kitagawa D., Free PMC Article | 09/11/2021 |
| Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome. | Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome.
Dery T, Chatron N, Alqahtani A, Pugeat M, Till M, Edery P, Sanlaville D, Schluth-Bolard C, Nicolino M, Lesca G, Putoux A. | 05/1/2021 |
| Requirement of the Cep57-Cep63 Interaction for Proper Cep152 Recruitment and Centriole Duplication. | Requirement of the Cep57-Cep63 Interaction for Proper Cep152 Recruitment and Centriole Duplication.
Wei Z, Kim TS, Ahn JI, Meng L, Chen Y, Ryu EK, Ku B, Zhou M, Kim SJ, Bang JK, van Deursen JM, Park JE, Lee KS., Free PMC Article | 08/15/2020 |
| Depletion of Cep57 causes PCM disorganization and precocious centriole disengagement during mitosis. | The Cep57-pericentrin module organizes PCM expansion and centriole engagement.
Watanabe K, Takao D, Ito KK, Takahashi M, Kitagawa D., Free PMC Article | 04/20/2019 |
| Cep57 is a mitotic kinetochore component that links the function of the KMN (KNL1/Mis12 complex/Ndc80 complex) network and spindle assembly checkpoint via Mis12 binding and Mad1-Mad2 interaction. | Cep57 is a Mis12-interacting kinetochore protein involved in kinetochore targeting of Mad1-Mad2.
Zhou H, Wang T, Zheng T, Teng J, Chen J., Free PMC Article | 05/21/2016 |
| We identified copy number variation (CNV) deletion impacting the exon sequences of CEP57L1, present in the affected mother and her affected daughter | Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments.
Liu Y, Li Y, March ME, Nguyen K, Xu K, Wang F, Guo Y, Keating B, Glessner J, Li J, Ganley TJ, Zhang J, Deardorff MA, Xu X, Hakonarson H., Free PMC Article | 01/16/2016 |
| Cep57, Cep63, and Cep152 are parts of a ring-like complex localizing around the proximal end of centrioles. | Selective chemical crosslinking reveals a Cep57-Cep63-Cep152 centrosomal complex.
Lukinavičius G, Lavogina D, Orpinell M, Umezawa K, Reymond L, Garin N, Gönczy P, Johnsson K. | 08/31/2013 |
| Cep57 is essential for cytokinesis via regulation of central spindle assembly and formation of the midbody | Cep57 protein is required for cytokinesis by facilitating central spindle microtubule organization.
He R, Wu Q, Zhou H, Huang N, Chen J, Teng J., Free PMC Article | 08/10/2013 |
| Data suggest for therapeutic targeting of the FGF-2/FGFR1/CEP57 axis in prostate cancer. | FGF-2 disrupts mitotic stability in prostate cancer through the intracellular trafficking protein CEP57.
Cuevas R, Korzeniewski N, Tolstov Y, Hohenfellner M, Duensing S. | 04/20/2013 |
| Cep57 acts as a PCM component through binding to NEDD1 and is required for spindle microtubule organization and maintenance of spindle pole integrity. | Cep57, a NEDD1-binding pericentriolar material component, is essential for spindle pole integrity.
Wu Q, He R, Zhou H, Yu AC, Zhang B, Teng J, Chen J., Free PMC Article | 01/12/2013 |
| Our findings indicate that these and/or additional functions of CEP57 are crucial for maintaining correct chromosomal number during cell division. | Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.
Snape K, Hanks S, Ruark E, Barros-Núñez P, Elliott A, Murray A, Lane AH, Shannon N, Callier P, Chitayat D, Clayton-Smith J, Fitzpatrick DR, Gisselsson D, Jacquemont S, Asakura-Hay K, Micale MA, Tolmie J, Turnpenny PD, Wright M, Douglas J, Rahman N., Free PMC Article | 07/30/2011 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article | 09/15/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium., Free PMC Article | 09/15/2010 |