Zinc Transporter ZIP13 G289R Variant from Spondylocheirodysplastic Ehlers-Danlos Syndrome Is Associated with Abnormal Hair Quality

Sofia Brito¹, Gunwoo Park², Gang Hyoung Lee², Valeria Capra³, Gianmaria Viglizzo⁴, Federico Zara⁵, Jeong-Yun Kim⁶, Ji-Hwan Park², Sung Kweon Cho⁷, Beat Steinmann⁸, Byung Mook Weon⁹, Jiyoon Kim¹⁰, Marcello Scala¹¹, Bum-Ho Bin¹²

Affiliations

¹ School of Advanced Materials Science & Engineering, Sungkyunkwan University, Suwon, Republic of Korea; Research Center for Advanced Materials Technology, Sungkyunkwan University, Suwon, Republic of Korea; Department of Pharmacology, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
² Department of Biological Sciences, Ajou University, Suwon, Republic of Korea.
³ U.O.C. Genomica e Genetica Clinica, IRCCS Istituto Giannina Gaslini, Genova, Italy.
⁴ Dermatology Unit, U.O.C. Dermatologia e Centro Angiomi, IRCCS Istituto Giannina Gaslini, Genova, Italy.
⁵ Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
⁶ Department of Functional Genomics, University of Science and Technology, Daejeon, Republic of Korea.
⁷ Department of Pharmacology, Ajou University School of Medicine, Suwon, Republic of Korea.
⁸ Division of Metabolism, University Children's Hospital, Zurich, Switzerland.
⁹ School of Advanced Materials Science & Engineering, Sungkyunkwan University, Suwon, Republic of Korea; Research Center for Advanced Materials Technology, Sungkyunkwan University, Suwon, Republic of Korea.
¹⁰ Department of Pharmacology, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea; Department of Medical Sciences, Graduate School, The Catholic University of Korea, Seoul, Republic of Korea; Institute for Aging and Metabolic Diseases, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
¹¹ Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy. Electronic address: mscala.md@gmail.com.
¹² Department of Biological Sciences, Ajou University, Suwon, Republic of Korea. Electronic address: bhb@ajou.ac.kr.

PMID: 40020993
DOI: 10.1016/j.jid.2025.02.133

Zinc Transporter ZIP13 G289R Variant from Spondylocheirodysplastic Ehlers-Danlos Syndrome Is Associated with Abnormal Hair Quality

Sofia Brito et al. J Invest Dermatol. 2025 Sep.

. 2025 Sep;145(9):2327-2330.e6.

doi: 10.1016/j.jid.2025.02.133. Epub 2025 Feb 26.

Authors

Affiliations

¹ School of Advanced Materials Science & Engineering, Sungkyunkwan University, Suwon, Republic of Korea; Research Center for Advanced Materials Technology, Sungkyunkwan University, Suwon, Republic of Korea; Department of Pharmacology, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
² Department of Biological Sciences, Ajou University, Suwon, Republic of Korea.
³ U.O.C. Genomica e Genetica Clinica, IRCCS Istituto Giannina Gaslini, Genova, Italy.
⁴ Dermatology Unit, U.O.C. Dermatologia e Centro Angiomi, IRCCS Istituto Giannina Gaslini, Genova, Italy.
⁵ Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
⁶ Department of Functional Genomics, University of Science and Technology, Daejeon, Republic of Korea.
⁷ Department of Pharmacology, Ajou University School of Medicine, Suwon, Republic of Korea.
⁸ Division of Metabolism, University Children's Hospital, Zurich, Switzerland.
⁹ School of Advanced Materials Science & Engineering, Sungkyunkwan University, Suwon, Republic of Korea; Research Center for Advanced Materials Technology, Sungkyunkwan University, Suwon, Republic of Korea.
¹⁰ Department of Pharmacology, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea; Department of Medical Sciences, Graduate School, The Catholic University of Korea, Seoul, Republic of Korea; Institute for Aging and Metabolic Diseases, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
¹¹ Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy. Electronic address: mscala.md@gmail.com.
¹² Department of Biological Sciences, Ajou University, Suwon, Republic of Korea. Electronic address: bhb@ajou.ac.kr.

PMID: 40020993
DOI: 10.1016/j.jid.2025.02.133

No abstract available

Keywords: Golgi apparatus; Hair; SLC39A13; Spondylocheirodysplastic Ehlers-Danlos syndrome; Zinc.

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Zinc Transporter ZIP13 G289R Variant from Spondylocheirodysplastic Ehlers-Danlos Syndrome Is Associated with Abnormal Hair Quality

Affiliations

Zinc Transporter ZIP13 G289R Variant from Spondylocheirodysplastic Ehlers-Danlos Syndrome Is Associated with Abnormal Hair Quality

Authors

Affiliations

LinkOut - more resources

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