Et al. (2006) Lowered XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum sufferers. Carcinogenesis 27(1):84?4. 7. Li L, Bales ES, Peterson CA, Legerski RJ (1993) Characterization of molecular defects in xeroderma pigmentosum group C. Nat Genet five(4):413?17. 8. Khan SG, et al. (1998) Xeroderma pigmentosum group C splice mutation related with autism and hypoglycinemia. J Invest Dermatol 111(5):791?96. 9. Khan SG, et al. (2002) The human XPC DNA repair gene: Arrangement, splice site data content material and influence of a single nucleotide polymorphism in a splice acceptor web-site on alternative splicing and function. Nucleic Acids Res 30(16):3624?631. 10. Jacobelli S, et al. (2008) Xeroderma pigmentosum group C in a French Caucasian patient with several melanoma and uncommon long-term survival. Br J Dermatol 159(four):968?73. 11. Soufir N, et al. (2010) A prevalent mutation with founder impact in xeroderma pigmentosum group C from north Africa. J Invest Dermatol 130(6):1537?542. 12. Lam CW, et al. (2005) DNA-based diagnosis of xeroderma pigmentosum group C by whole-genome scan using single-nucleotide polymorphism microarray.Pyrrolidine Hydrochloride site J Invest Dermatol 124(1):87?1. 13. Sch er A, et al. (2013) Molecular genetic analysis of 16 XP-C sufferers from Germany: Environmental factors predominately contribute to phenotype variations. Exp Dermatol 22(1):24?9. 14. Maquat LE (2005) Nonsense-mediated mRNA decay in mammals. J Cell Sci 118(Pt 9): 1773?776. 15. Lee HL, Dougherty JP (2012) Pharmaceutical therapies to recode nonsense mutations in inherited illnesses. Pharmacol Ther 136(two):227?66. 16.tert-Butyl bis(2-bromoethyl)carbamate Data Sheet Gatti RA (2012) SMRT compounds appropriate nonsense mutations in major immunodeficiency along with other genetic models.PMID:29844565 Ann N Y Acad Sci 1250:33?0. 17. Howard MT, et al. (2004) Readthrough of dystrophin cease codon mutations induced by aminoglycosides. Ann Neurol 55(three):422?26. 18. Lai CH, et al. (2004) Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons. Proc Natl Acad Sci USA 101(44): 15676?5681. 19. Hainrichson M, Nudelman I, Baasov T (2008) Designer aminoglycosides: The race to create enhanced antibiotics and compounds for the therapy of human genetic ailments. Org Biomol Chem six(two):227?39. 20. Wilschanski M, et al. (2000) A pilot study in the effect of gentamicin on nasal prospective difference measurements in cystic fibrosis patients carrying stop mutations. Am J Respir Crit Care Med 161(three Pt 1):860?65. 21. Politano L, et al. (2003) Gentamicin administration in Duchenne sufferers with premature stop codon. Preliminary results. Acta Myol 22(1):15?1. 22. Vakulenko SB, Mobashery S (2003) Versatility of aminoglycosides and prospects for their future. Clin Microbiol Rev 16(three):430?50. 23. Hirawat S, et al. (2007) Security, tolerability, and pharmacokinetics of PTC124, a nonaminoglycoside nonsense mutation suppressor, following single- and multiple-dose administration to healthier male and female adult volunteers. J Clin Pharmacol 47(4): 430?44.24. Du L, et al. (2009) Nonaminoglycoside compounds induce readthrough of nonsense mutations. J Exp Med 206(10):2285?297. 25. Du L, et al. (2013) A brand new series of novel tiny molecular weight compounds induce readthrough of all 3 types of nonsense mutations within the ATM gene. Mol Ther 21(9):1653?660. 26. Bellais S, Le Goff C, Dagoneau N, Munnich A, Cormier-Daire V (2010) In vitro readthrough of termination codons by gentamycin within the St e-Wiedemann Syndrome. Eur J Hum.