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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: wing j. 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
Translesion synthesis: Y-family polymerases and the polymerase switch.
Lehmann AR, Niimi A, Ogi T, Brown S, Sabbioneda S, Wing JF, Kannouche PL, Green CM. Lehmann AR, et al. DNA Repair (Amst). 2007 Jul 1;6(7):891-9. doi: 10.1016/j.dnarep.2007.02.003. Epub 2007 Mar 23. DNA Repair (Amst). 2007. PMID: 17363342 Review.
A Distinct Genotype of XP Complementation Group A: Surprisingly Mild Phenotype Highly Prevalent in Northern India/Pakistan/Afghanistan.
Sethi M, Haque S, Fawcett H, Wing JF, Chandler N, Mohammed S, Frayling IM, Norris PG, McGibbon D, Young AR, Sarkany RPE, Lehmann AR, Fassihi H. Sethi M, et al. J Invest Dermatol. 2016 Apr;136(4):869-872. doi: 10.1016/j.jid.2015.12.031. Epub 2015 Dec 29. J Invest Dermatol. 2016. PMID: 26743599 Free article. No abstract available.
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.
Fassihi H, Sethi M, Fawcett H, Wing J, Chandler N, Mohammed S, Craythorne E, Morley AM, Lim R, Turner S, Henshaw T, Garrood I, Giunti P, Hedderly T, Abiona A, Naik H, Harrop G, McGibbon D, Jaspers NG, Botta E, Nardo T, Stefanini M, Young AR, Sarkany RP, Lehmann AR. Fassihi H, et al. Among authors: wing j. Proc Natl Acad Sci U S A. 2016 Mar 1;113(9):E1236-45. doi: 10.1073/pnas.1519444113. Epub 2016 Feb 16. Proc Natl Acad Sci U S A. 2016. PMID: 26884178 Free PMC article.
Neurological symptoms and natural course of xeroderma pigmentosum.
Anttinen A, Koulu L, Nikoskelainen E, Portin R, Kurki T, Erkinjuntti M, Jaspers NG, Raams A, Green MH, Lehmann AR, Wing JF, Arlett CF, Marttila RJ. Anttinen A, et al. Among authors: wing jf. Brain. 2008 Aug;131(Pt 8):1979-89. doi: 10.1093/brain/awn126. Epub 2008 Jun 21. Brain. 2008. PMID: 18567921 Free article.
Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.
Kashiyama K, Nakazawa Y, Pilz DT, Guo C, Shimada M, Sasaki K, Fawcett H, Wing JF, Lewin SO, Carr L, Li TS, Yoshiura K, Utani A, Hirano A, Yamashita S, Greenblatt D, Nardo T, Stefanini M, McGibbon D, Sarkany R, Fassihi H, Takahashi Y, Nagayama Y, Mitsutake N, Lehmann AR, Ogi T. Kashiyama K, et al. Am J Hum Genet. 2013 May 2;92(5):807-19. doi: 10.1016/j.ajhg.2013.04.007. Epub 2013 Apr 25. Am J Hum Genet. 2013. PMID: 23623389 Free PMC article.
382 results