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Two patients with Hailey‐Hailey disease with novel pathogenic ATP2C1 variants suggesting possible genotype/phenotype correlations

医学院 医学 家庭医学 皮肤病科 图书馆学 医学教育 计算机科学
作者
Michiya Omi,Takuya Takeichi,Ito Y,Toshiyuki Yoshikawa,Yuki Mizutani,Miki Nagai,Mariko Seishima,Tomoo Ogi,Yoshinao Muro,Masashi Akiyama
出处
期刊:Journal of Dermatology [Wiley]
卷期号:51 (6)
标识
DOI:10.1111/1346-8138.17081
摘要

The Journal of DermatologyEarly View LETTER TO THE EDITOR Two patients with Hailey-Hailey disease with novel pathogenic ATP2C1 variants suggesting possible genotype/phenotype correlations Michiya Omi, Michiya Omi orcid.org/0009-0002-9904-9623 Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, JapanSearch for more papers by this authorTakuya Takeichi, Corresponding Author Takuya Takeichi [email protected] orcid.org/0000-0001-5958-2875 Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan Nagoya University Institute for Advanced Research, Nagoya, Japan Correspondence Takuya Takeichi and Masashi Akiyama, Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan. Email: [email protected]; [email protected]Search for more papers by this authorYasutoshi Ito, Yasutoshi Ito orcid.org/0000-0001-9515-953X Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan Department of Dermatology, National Hospital Organization, Nagoya Medical Center, Nagoya, JapanSearch for more papers by this authorTakenori Yoshikawa, Takenori Yoshikawa Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, JapanSearch for more papers by this authorYuki Mizutani, Yuki Mizutani Gifu Prefectural General Medical Center, Gifu, Japan Department of Dermatology, Graduate School of Medicine, Mie University, Tsu, JapanSearch for more papers by this authorMiki Nagai, Miki Nagai Gifu Prefectural General Medical Center, Gifu, JapanSearch for more papers by this authorMariko Seishima, Mariko Seishima Department of Dermatology, Asahi University Hospital, Gifu, Japan Department of Dermatology, Gifu University Graduate School of Medicine, Gifu, JapanSearch for more papers by this authorTomoo Ogi, Tomoo Ogi Department of Genetics, Research Institute of Environmental Medicine (RIeM), Nagoya University, Nagoya, Japan Department of Human Genetics and Molecular Biology, Nagoya University Graduate School of Medicine, Nagoya, JapanSearch for more papers by this authorYoshinao Muro, Yoshinao Muro orcid.org/0000-0003-2329-8375 Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, JapanSearch for more papers by this authorMasashi Akiyama, Corresponding Author Masashi Akiyama [email protected] orcid.org/0000-0001-5863-9315 Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan Correspondence Takuya Takeichi and Masashi Akiyama, Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan. Email: [email protected]; [email protected]Search for more papers by this author Michiya Omi, Michiya Omi orcid.org/0009-0002-9904-9623 Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, JapanSearch for more papers by this authorTakuya Takeichi, Corresponding Author Takuya Takeichi [email protected] orcid.org/0000-0001-5958-2875 Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan Nagoya University Institute for Advanced Research, Nagoya, Japan Correspondence Takuya Takeichi and Masashi Akiyama, Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan. Email: [email protected]; [email protected]Search for more papers by this authorYasutoshi Ito, Yasutoshi Ito orcid.org/0000-0001-9515-953X Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan Department of Dermatology, National Hospital Organization, Nagoya Medical Center, Nagoya, JapanSearch for more papers by this authorTakenori Yoshikawa, Takenori Yoshikawa Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, JapanSearch for more papers by this authorYuki Mizutani, Yuki Mizutani Gifu Prefectural General Medical Center, Gifu, Japan Department of Dermatology, Graduate School of Medicine, Mie University, Tsu, JapanSearch for more papers by this authorMiki Nagai, Miki Nagai Gifu Prefectural General Medical Center, Gifu, JapanSearch for more papers by this authorMariko Seishima, Mariko Seishima Department of Dermatology, Asahi University Hospital, Gifu, Japan Department of Dermatology, Gifu University Graduate School of Medicine, Gifu, JapanSearch for more papers by this authorTomoo Ogi, Tomoo Ogi Department of Genetics, Research Institute of Environmental Medicine (RIeM), Nagoya University, Nagoya, Japan Department of Human Genetics and Molecular Biology, Nagoya University Graduate School of Medicine, Nagoya, JapanSearch for more papers by this authorYoshinao Muro, Yoshinao Muro orcid.org/0000-0003-2329-8375 Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, JapanSearch for more papers by this authorMasashi Akiyama, Corresponding Author Masashi Akiyama [email protected] orcid.org/0000-0001-5863-9315 Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan Correspondence Takuya Takeichi and Masashi Akiyama, Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan. Email: [email protected]; [email protected]Search for more papers by this author First published: 19 December 2023 https://doi.org/10.1111/1346-8138.17081Read 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 1Murase Y, Takeichi T, Kawamoto A, Tanahashi K, Okuno Y, Takama H, et al. Reduced stratum corneum acylceramides in autosomal recessive congenital ichthyosis with a NIPAL4 mutation. J Dermatol Sci. 2020; 97: 50–56. 10.1016/j.jdermsci.2019.12.001 CASPubMedWeb of Science®Google Scholar 2Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015; 17: 405–424. 10.1038/gim.2015.30 PubMedWeb of Science®Google Scholar 3Wu M, Wu C, Song T, Pan K, Wang Y, Liu Z. Structure and transport mechanism of the human calcium pump SPCA1. Cell Res. 2023; 33: 533–545. 10.1038/s41422-023-00827-x CASPubMedWeb of Science®Google Scholar 4Hao D, Heng X. The role of the ATP2C1 gene in Hailey-Hailey disease. Cell Mol Life Sci. 2017; 74: 3687–3696. 10.1007/s00018-017-2544-7 PubMedWeb of Science®Google Scholar 5Popp MW, Maquat LE. Organizing principles of mammalian nonsense-mediated mRNA decay. Annu Rev Genet. 2013; 47: 139–165. 10.1146/annurev-genet-111212-133424 CASPubMedWeb of Science®Google Scholar Early ViewOnline Version of Record before inclusion in an issue ReferencesRelatedInformation
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