Molecular pathogenesis of Spondylocheirodysplastic Ehlers-Danlos syndrome caused by mutant ZIP13 proteins

The zinc transporter protein ZIP13 plays critical roles in bone, tooth, and connective tissue development, and its dysfunction is responsible for the spondylocheirodysplastic form of Ehlers-Danlos syndrome (SCD-EDS, OMIM 612350). Here, we report the molecular pathogenic mechanism of SCD-EDS caused b...

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Autori principali: Bin, Bum-Ho, Hojyo, Shintaro, Hosaka, Toshiaki, Bhin, Jinhyuk, Kano, Hiroki, Miyai, Tomohiro, Ikeda, Mariko, Kimura-Someya, Tomomi, Shirouzu, Mikako, Cho, Eun-Gyung, Fukue, Kazuhisa, Kambe, Taiho, Ohashi, Wakana, Kim, Kyu-Han, Seo, Juyeon, Choi, Dong-Hwa, Nam, Yeon-Ju, Hwang, Daehee, Fukunaka, Ayako, Fujitani, Yoshio, Yokoyama, Shigeyuki, Superti-Furga, Andrea, Ikegawa, Shiro, Lee, Tae Ryong, Fukada, Toshiyuki
Natura: Artigo
Lingua:Inglês
Pubblicazione: BlackWell Publishing Ltd 2014
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Research Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4154131/
https://ncbi.nlm.nih.gov/pubmed/25007800
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15252/emmm.201303809
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