PubMed for id: 9702

Year	Number of Results
1995	2
2000	2
2002	3
2003	5
2004	4
2005	1
2006	2
2007	1
2008	1
2009	3
2010	2
2011	7
2012	2
2013	6
2014	4
2015	2
2016	1
2017	2
2019	2
2020	6
2021	3
2022	1
2023	2
2024	0

1

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. Langeh N, et al. Clin Genet. 2023 Apr;103(4):478-483. doi: 10.1111/cge.14297. Epub 2023 Jan 23. Clin Genet. 2023. PMID: 36635612

2

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. Santos-Simarro F, et al. Eur J Med Genet. 2021 Nov;64(11):104338. doi: 10.1016/j.ejmg.2021.104338. Epub 2021 Sep 7. Eur J Med Genet. 2021. PMID: 34500087 Review.

3

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. Dery T, et al. Eur J Med Genet. 2020 Nov;63(11):104044. doi: 10.1016/j.ejmg.2020.104044. Epub 2020 Aug 28. Eur J Med Genet. 2020. PMID: 32861809

4

Cep57 is a Mis12-interacting kinetochore protein involved in kinetochore targeting of Mad1-Mad2.

Zhou H, Wang T, Zheng T, Teng J, Chen J. Zhou H, et al. Nat Commun. 2016 Jan 8;7:10151. doi: 10.1038/ncomms10151. Nat Commun. 2016. PMID: 26743940 Free PMC article.

5

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. Wu Q, et al. Cell Res. 2012 Sep;22(9):1390-401. doi: 10.1038/cr.2012.61. Epub 2012 Apr 17. Cell Res. 2012. PMID: 22508265 Free PMC article.

6

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. Snape K, et al. Nat Genet. 2011 Jun;43(6):527-9. doi: 10.1038/ng.822. Epub 2011 May 8. Nat Genet. 2011. PMID: 21552266 Free PMC article.

7

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. Ito KK, et al. J Cell Biol. 2021 Mar 1;220(3):e202005153. doi: 10.1083/jcb.202005153. J Cell Biol. 2021. PMID: 33492359 Free PMC article.

8

The Cep57-pericentrin module organizes PCM expansion and centriole engagement.

Watanabe K, Takao D, Ito KK, Takahashi M, Kitagawa D. Watanabe K, et al. Nat Commun. 2019 Feb 25;10(1):931. doi: 10.1038/s41467-019-08862-2. Nat Commun. 2019. PMID: 30804344 Free PMC article.

9

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. Liu Y, et al. Hum Genomics. 2015 Nov 11;9:31. doi: 10.1186/s40246-015-0053-z. Hum Genomics. 2015. PMID: 26561035 Free PMC article.

10

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. Wei Z, et al. Mol Cell Biol. 2020 Apr 28;40(10):e00535-19. doi: 10.1128/MCB.00535-19. Print 2020 Apr 28. Mol Cell Biol. 2020. PMID: 32152252 Free PMC article.

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