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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. 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.
Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2).
Emmert S, Ueda T, Zumsteg U, Weber P, Khan SG, Oh KS, Boyle J, Laspe P, Zachmann K, Boeckmann L, Kuschal C, Bircher A, Kraemer KH. Emmert S, et al. Among authors: kuschal c. Exp Dermatol. 2009 Jan;18(1):64-8. doi: 10.1111/j.1600-0625.2008.00763.x. Epub 2008 Jul 7. Exp Dermatol. 2009. PMID: 18637129 Free PMC article.
Lessons learned from DNA repair defective syndromes.
Thoms KM, Kuschal C, Emmert S. Thoms KM, et al. Among authors: kuschal c. Exp Dermatol. 2007 Jun;16(6):532-44. doi: 10.1111/j.1600-0625.2007.00559.x. Exp Dermatol. 2007. PMID: 17518994 Free article. Review.
Introduction to confocal microscopy.
Nwaneshiudu A, Kuschal C, Sakamoto FH, Anderson RR, Schwarzenberger K, Young RC. Nwaneshiudu A, et al. Among authors: kuschal c. J Invest Dermatol. 2012 Dec;132(12):e3. doi: 10.1038/jid.2012.429. J Invest Dermatol. 2012. PMID: 23187113 Free article. Review. No abstract available.
17 results