PubMed (OMIM) for id: 55755

Year	Number of Results
2000	3
2005	1
2006	1
2007	2
2010	1
2012	1
2013	2
2014	2
2015	1
2016	2
2024	0

1

Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities.

Pagnamenta AT, Howard MF, Knight SJ, Keays DA, Quaghebeur G, Taylor JC, Kini U. Pagnamenta AT, et al. Clin Case Rep. 2016 Aug 23;4(10):952-956. doi: 10.1002/ccr3.663. eCollection 2016 Oct. Clin Case Rep. 2016. PMID: 27761245 Free PMC article.

2

Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum.

Jouan L, Ouled Amar Bencheikh B, Daoud H, Dionne-Laporte A, Dobrzeniecka S, Spiegelman D, Rochefort D, Hince P, Szuto A, Lassonde M, Barbelanne M, Tsang WY, Dion PA, Théoret H, Rouleau GA. Jouan L, et al. Eur J Hum Genet. 2016 Apr;24(4):607-10. doi: 10.1038/ejhg.2015.156. Epub 2015 Jul 22. Eur J Hum Genet. 2016. PMID: 26197979 Free PMC article.

3

Proximity interactions among centrosome components identify regulators of centriole duplication.

Firat-Karalar EN, Rauniyar N, Yates JR 3rd, Stearns T. Firat-Karalar EN, et al. Curr Biol. 2014 Mar 17;24(6):664-70. doi: 10.1016/j.cub.2014.01.067. Epub 2014 Mar 6. Curr Biol. 2014. PMID: 24613305 Free PMC article.

4

Cerebral organoids model human brain development and microcephaly.

Lancaster MA, Renner M, Martin CA, Wenzel D, Bicknell LS, Hurles ME, Homfray T, Penninger JM, Jackson AP, Knoblich JA. Lancaster MA, et al. Nature. 2013 Sep 19;501(7467):373-9. doi: 10.1038/nature12517. Epub 2013 Aug 28. Nature. 2013. PMID: 23995685 Free PMC article.

5

The first case of CDK5RAP2-related primary microcephaly in a non-consanguineous patient identified by next generation sequencing.

Tan CA, Topper S, Ward Melver C, Stein J, Reeder A, Arndt K, Das S. Tan CA, et al. Brain Dev. 2014 Apr;36(4):351-5. doi: 10.1016/j.braindev.2013.05.001. Epub 2013 May 28. Brain Dev. 2014. PMID: 23726037

6

A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss.

Pagnamenta AT, Murray JE, Yoon G, Sadighi Akha E, Harrison V, Bicknell LS, Ajilogba K, Stewart H, Kini U, Taylor JC, Keays DA, Jackson AP, Knight SJ. Pagnamenta AT, et al. Am J Med Genet A. 2012 Oct;158A(10):2577-82. doi: 10.1002/ajmg.a.35558. Epub 2012 Aug 10. Am J Med Genet A. 2012. PMID: 22887808 Free PMC article.

7

Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors.

Lizarraga SB, Margossian SP, Harris MH, Campagna DR, Han AP, Blevins S, Mudbhary R, Barker JE, Walsh CA, Fleming MD. Lizarraga SB, et al. Development. 2010 Jun;137(11):1907-17. doi: 10.1242/dev.040410. Development. 2010. PMID: 20460369 Free PMC article.

8

Cep68 and Cep215 (Cdk5rap2) are required for centrosome cohesion.

Graser S, Stierhof YD, Nigg EA. Graser S, et al. J Cell Sci. 2007 Dec 15;120(Pt 24):4321-31. doi: 10.1242/jcs.020248. Epub 2007 Nov 27. J Cell Sci. 2007. PMID: 18042621

9

Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly.

Hassan MJ, Khurshid M, Azeem Z, John P, Ali G, Chishti MS, Ahmad W. Hassan MJ, et al. BMC Med Genet. 2007 Sep 1;8:58. doi: 10.1186/1471-2350-8-58. BMC Med Genet. 2007. PMID: 17764569 Free PMC article.

10

Molecular evolution of the brain size regulator genes CDK5RAP2 and CENPJ.

Evans PD, Vallender EJ, Lahn BT. Evans PD, et al. Gene. 2006 Jun 21;375:75-9. doi: 10.1016/j.gene.2006.02.019. Epub 2006 Mar 14. Gene. 2006. PMID: 16631324

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