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SMC6 is an essential gene in mice, but a hypomorphic mutant in the ATPase domain has a mild phenotype with a range of subtle abnormalities.
Ju L, Wing J, Taylor E, Brandt R, Slijepcevic P, Horsch M, Rathkolb B, Rácz I, Becker L, Hans W, Adler T, Beckers J, Rozman J, Klingenspor M, Wolf E, Zimmer A, Klopstock T, Busch DH, Gailus-Durner V, Fuchs H, de Angelis MH, van der Horst G, Lehmann AR. Ju L, et al. Among authors: taylor e. DNA Repair (Amst). 2013 May 1;12(5):356-66. doi: 10.1016/j.dnarep.2013.02.006. Epub 2013 Mar 18. DNA Repair (Amst). 2013. PMID: 23518413
Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene.
Broughton BC, Berneburg M, Fawcett H, Taylor EM, Arlett CF, Nardo T, Stefanini M, Menefee E, Price VH, Queille S, Sarasin A, Bohnert E, Krutmann J, Davidson R, Kraemer KH, Lehmann AR. Broughton BC, et al. Among authors: taylor em. Hum Mol Genet. 2001 Oct 15;10(22):2539-47. doi: 10.1093/hmg/10.22.2539. Hum Mol Genet. 2001. PMID: 11709541
PrimPol bypasses UV photoproducts during eukaryotic chromosomal DNA replication.
Bianchi J, Rudd SG, Jozwiakowski SK, Bailey LJ, Soura V, Taylor E, Stevanovic I, Green AJ, Stracker TH, Lindsay HD, Doherty AJ. Bianchi J, et al. Among authors: taylor e. Mol Cell. 2013 Nov 21;52(4):566-73. doi: 10.1016/j.molcel.2013.10.035. Mol Cell. 2013. PMID: 24267451 Free PMC article.
3,244 results