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• W2149666476 abstract "Journal of the European Academy of Dermatology and VenereologyVolume 30, Issue 9 p. 1629-1631 Letter to the Editor Two novel missense mutations of STS gene underlie X-linked recessive ichthyosis: understanding of the mutational and structural spectrum N. Oyama, Corresponding Author N. Oyama Division of Dermatology and Dermato-Allergology, Matsuda General Hospital, Ohno, Fukui, 912-0026 JapanCorrespondence: N. Oyama. E-mail: [email protected]Search for more papers by this authorM. Matsuda, M. Matsuda Department of Dermatology, Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology, 67 Asahimachi, Kurume, Fukuoka, 830-0011 JapanSearch for more papers by this authorT. Hamada, T. Hamada Department of Dermatology, Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology, 67 Asahimachi, Kurume, Fukuoka, 830-0011 JapanSearch for more papers by this authorS. Numata, S. Numata Department of Dermatology, Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology, 67 Asahimachi, Kurume, Fukuoka, 830-0011 JapanSearch for more papers by this authorK. Teye, K. Teye Department of Dermatology, Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology, 67 Asahimachi, Kurume, Fukuoka, 830-0011 JapanSearch for more papers by this authorT. Hashimoto, T. Hashimoto Department of Dermatology, Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology, 67 Asahimachi, Kurume, Fukuoka, 830-0011 JapanSearch for more papers by this authorM. Hasegawa, M. Hasegawa Department of Dermatology, Fukui University, Fukui 23-3, Matsuoka-Shimoaizuki, Eiheiji, Yoshida, Fukui, 910-1193 JapanSearch for more papers by this author N. Oyama, Corresponding Author N. Oyama Division of Dermatology and Dermato-Allergology, Matsuda General Hospital, Ohno, Fukui, 912-0026 JapanCorrespondence: N. Oyama. E-mail: [email protected]Search for more papers by this authorM. Matsuda, M. Matsuda Department of Dermatology, Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology, 67 Asahimachi, Kurume, Fukuoka, 830-0011 JapanSearch for more papers by this authorT. Hamada, T. Hamada Department of Dermatology, Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology, 67 Asahimachi, Kurume, Fukuoka, 830-0011 JapanSearch for more papers by this authorS. Numata, S. Numata Department of Dermatology, Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology, 67 Asahimachi, Kurume, Fukuoka, 830-0011 JapanSearch for more papers by this authorK. Teye, K. Teye Department of Dermatology, Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology, 67 Asahimachi, Kurume, Fukuoka, 830-0011 JapanSearch for more papers by this authorT. Hashimoto, T. Hashimoto Department of Dermatology, Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology, 67 Asahimachi, Kurume, Fukuoka, 830-0011 JapanSearch for more papers by this authorM. Hasegawa, M. Hasegawa Department of Dermatology, Fukui University, Fukui 23-3, Matsuoka-Shimoaizuki, Eiheiji, Yoshida, Fukui, 910-1193 JapanSearch for more papers by this author First published: 21 September 2015 https://doi.org/10.1111/jdv.13231Citations: 4Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. References 1Ballabio A, Parenti G, Carrozzo R et al. Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis. Proc Natl Acad Sci USA 1987; 84: 4519–4523. 2Yen PH, Alien E, Marsh B et al. Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: implications for X-Y interchange. Cell 1987; 49: 443–454. 3Sherry ST, Ward MH, Kholodov M et al. dbSNP: the NCBI database of genetic variation. Nucleic Acids Res 2001; 29: 308–311. 4Murtaza G, Siddiq S, Khan S, Hussain S and Naeem M. Molecular study of X-linked ichthyosis: report of a novel 2-bp insertion mutation in the STS and a very rare case of homozygous female patient. J Dermatol Sci 2014; 74: 165–167. 5Alperin ES, Shapiro LJ. Characterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase protein. J Biol Chem 1997; 272: 20756–20763. 6Oyama N, Satoh M, Iwatsuki K, Kaneko F. Novel point mutations in the steroid sulfatase gene in patients with X-linked ichthyosis: transfection analysis using the mutated genes. J Invest Dermatol 2000; 114: 1195–1199. 7Winge MC, Hoppe T, Liedén A et al. Novel point mutation in the STS gene in a patient with X-linked recessive ichthyosis. J Dermatol Sci 2011; 63: 62–64. 8Purohit A, Woo LW, Potter BV. Steroid sulfatase: a pivotal player in estrogen synthesis and metabolism. Mol Cell Endocrinol 2011; 340: 154–160. 9Thomas MP, Potter BV. The structural biology of oestrogen metabolism. J Steroid Biochem Mol Biol 2013; 137: 27–49. Citing Literature Volume30, Issue9September 2016Pages 1629-1631 ReferencesRelatedInformation" @default.
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