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GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy.
Kuschal C, Botta E, Orioli D, Digiovanna JJ, Seneca S, Keymolen K, Tamura D, Heller E, Khan SG, Caligiuri G, Lanzafame M, Nardo T, Ricotti R, Peverali FA, Stephens R, Zhao Y, Lehmann AR, Baranello L, Levens D, Kraemer KH, Stefanini M. Kuschal C, et al. Among authors: digiovanna jj. Am J Hum Genet. 2016 Apr 7;98(4):627-42. doi: 10.1016/j.ajhg.2016.02.008. Epub 2016 Mar 17. Am J Hum Genet. 2016. PMID: 26996949 Free PMC article.
Founder mutations in xeroderma pigmentosum.
Tamura D, DiGiovanna JJ, Kraemer KH. Tamura D, et al. Among authors: digiovanna jj. J Invest Dermatol. 2010 Jun;130(6):1491-3. doi: 10.1038/jid.2010.76. J Invest Dermatol. 2010. PMID: 20463673 Free PMC article.
Topical enzyme therapy for skin diseases?
Kraemer KH, DiGiovanna JJ. Kraemer KH, et al. Among authors: digiovanna jj. J Am Acad Dermatol. 2002 Mar;46(3):463-6. doi: 10.1067/mjd.2002.119102. J Am Acad Dermatol. 2002. PMID: 11862191 No abstract available.
Evidence of ultraviolet type mutations in xeroderma pigmentosum melanomas.
Wang Y, Digiovanna JJ, Stern JB, Hornyak TJ, Raffeld M, Khan SG, Oh KS, Hollander MC, Dennis PA, Kraemer KH. Wang Y, et al. Among authors: digiovanna jj. Proc Natl Acad Sci U S A. 2009 Apr 14;106(15):6279-84. doi: 10.1073/pnas.0812401106. Epub 2009 Mar 27. Proc Natl Acad Sci U S A. 2009. PMID: 19329485 Free PMC article.
185 results