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2006 3
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Page 1
USP7 is essential for maintaining Rad18 stability and DNA damage tolerance.
Zlatanou A, Sabbioneda S, Miller ES, Greenwalt A, Aggathanggelou A, Maurice MM, Lehmann AR, Stankovic T, Reverdy C, Colland F, Vaziri C, Stewart GS. Zlatanou A, et al. Oncogene. 2016 Feb 25;35(8):965-76. doi: 10.1038/onc.2015.149. Epub 2015 May 11. Oncogene. 2016. PMID: 25961918
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. 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
Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.
Nakazawa Y, Sasaki K, Mitsutake N, Matsuse M, Shimada M, Nardo T, Takahashi Y, Ohyama K, Ito K, Mishima H, Nomura M, Kinoshita A, Ono S, Takenaka K, Masuyama R, Kudo T, Slor H, Utani A, Tateishi S, Yamashita S, Stefanini M, Lehmann AR, Yoshiura K, Ogi T. Nakazawa Y, et al. Nat Genet. 2012 May;44(5):586-92. doi: 10.1038/ng.2229. Nat Genet. 2012. PMID: 22466610 Free article.
Xeroderma pigmentosum.
Lehmann AR, McGibbon D, Stefanini M. Lehmann AR, et al. Orphanet J Rare Dis. 2011 Nov 1;6:70. doi: 10.1186/1750-1172-6-70. Orphanet J Rare Dis. 2011. PMID: 22044607 Free PMC article. Review.
29 results