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Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.
Fenwick AL, Kliszczak M, Cooper F, Murray J, Sanchez-Pulido L, Twigg SR, Goriely A, McGowan SJ, Miller KA, Taylor IB, Logan C; WGS500 Consortium; Bozdogan S, Danda S, Dixon J, Elsayed SM, Elsobky E, Gardham A, Hoffer MJ, Koopmans M, McDonald-McGinn DM, Santen GW, Savarirayan R, de Silva D, Vanakker O, Wall SA, Wilson LC, Yuregir OO, Zackai EH, Ponting CP, Jackson AP, Wilkie AO, Niedzwiedz W, Bicknell LS. Fenwick AL, et al. Am J Hum Genet. 2016 Jul 7;99(1):125-38. doi: 10.1016/j.ajhg.2016.05.019. Epub 2016 Jun 30. Am J Hum Genet. 2016. PMID: 27374770 Free PMC article.
Common ancestry of the CENP-A chaperones Scm3 and HJURP.
Sanchez-Pulido L, Pidoux AL, Ponting CP, Allshire RC. Sanchez-Pulido L, et al. Cell. 2009 Jun 26;137(7):1173-4. doi: 10.1016/j.cell.2009.06.010. Cell. 2009. PMID: 19563746 Free PMC article. No abstract available.
Cdc45: the missing RecJ ortholog in eukaryotes?
Sanchez-Pulido L, Ponting CP. Sanchez-Pulido L, et al. Bioinformatics. 2011 Jul 15;27(14):1885-8. doi: 10.1093/bioinformatics/btr332. Epub 2011 Jun 8. Bioinformatics. 2011. PMID: 21653514
Structure and evolutionary history of DISC1.
Sanchez-Pulido L, Ponting CP. Sanchez-Pulido L, et al. Hum Mol Genet. 2011 Oct 15;20(R2):R175-81. doi: 10.1093/hmg/ddr374. Epub 2011 Aug 18. Hum Mol Genet. 2011. PMID: 21852244 Review.
Nprl3 is required for normal development of the cardiovascular system.
Kowalczyk MS, Hughes JR, Babbs C, Sanchez-Pulido L, Szumska D, Sharpe JA, Sloane-Stanley JA, Morriss-Kay GM, Smoot LB, Roberts AE, Watkins H, Bhattacharya S, Gibbons RJ, Ponting CP, Wood WG, Higgs DR. Kowalczyk MS, et al. Mamm Genome. 2012 Aug;23(7-8):404-15. doi: 10.1007/s00335-012-9398-y. Epub 2012 Apr 27. Mamm Genome. 2012. PMID: 22538705
A common ancestry for BAP1 and Uch37 regulators.
Sanchez-Pulido L, Kong L, Ponting CP. Sanchez-Pulido L, et al. Bioinformatics. 2012 Aug 1;28(15):1953-6. doi: 10.1093/bioinformatics/bts319. Epub 2012 May 29. Bioinformatics. 2012. PMID: 22645167
79 results