Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Mingyang Lee"'
Autor:
Zhuoqing Gong, Shangzhi Dai, Xingyuan Jiang, Mingyang Lee, Xuejun Zhu, Huijun Wang, Zhimiao Lin
Publikováno v:
British Journal of Dermatology. 188:100-111
Background Mendelian disorders of cornification (MeDOC) are a group of heterogeneous genodermatoses with different genetic bases. The pathogenesis of a substantial group of MeDOC remains to be elucidated. Objectives To identify a new causative gene a
Publikováno v:
Journal of the European Academy of Dermatology and Venereology : JEADVREFERENCES.
Publikováno v:
Journal of Dermatological Science. 98:35-40
Background Ichthyosis with confetti (IWC) is an extremely rare autosomal-dominant genodermatosis characterized by erythroderma with numerous confetti-like pale spots. IWC is caused by mutations in KRT10 (IWC-I) or KRT1 (IWC-II) which affect their tai
Publikováno v:
Journal of the American Academy of Dermatology. 87(3)
Publikováno v:
JAMA dermatology. 157(10)
Autor:
Yong Yang, Linghan Hu, Bo Hyun Lee, Dingfang Bu, Zhe Xu, Simon Vu, Zhimiao Lin, Jie Zheng, Huijun Wang, Xu Cao, Samuel T Hwang, Mingyang Lee
Publikováno v:
Journal of Investigative Dermatology. 139:1089-1097
Transient receptor potential (TRP) channels respond to various chemical and physical stimuli by mediating cation influx. The skin expresses abundant TRP channels of different subtypes, which play an essential role in the maintenance of skin functiona
Autor:
Sugirthan Sivalingam, Sheetal Kumar, Karl Heinz Grzeschik, Fabian Hauck, Xiujuan Sun, Armand Bottani, Janine Altmüller, Shangzhi Dai, Peter M. Kroisel, Fanny Kortüm, Aytaj Humbatova, Scott D. Walter, Yuan Wu, Wen Qin, Xinwu Niu, Mingyang Lee, Regina C. Betz, Gianluca Tadini, Kerstin Kutsche, Andreas Buness, Katta M. Girisha, Songmei Geng, Maria Teresa Romano, Huijun Wang, Yuanxiang Liu, Lin Ma, Susanne Motameny, Shuxia Yang, Nicole Cesarato, Zhimiao Lin, Xiaopeng Wang, Ran Mo, Anne Marie Calza, Dorothea Bornholdt
Publikováno v:
Am J Hum Genet
IFAP syndrome is a rare genetic disorder characterized by ichthyosis follicularis, atrichia, and photophobia. Previous research found that mutations in MBTPS2, encoding site-2-protease (S2P), underlie X-linked IFAP syndrome. The present report descri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a9680a4ec39a1ad19d3c325026208f5
https://europepmc.org/articles/PMC7332643/
https://europepmc.org/articles/PMC7332643/
Autor:
H.H. Wang, Yen Po Harvey Chin, S.C. Chien, Yu-Chuan Li, Y.-T. Lin, L.C. Li, Z.Y. Hou, A. Gittin, Hong-Min Chu, Phung Anh Nguyen, Mingyang Lee, T.H. Chang
Publikováno v:
The British journal of dermatologyReferences. 182(6)
Autor:
Stephen L. Hart, Diane Xu, Veronica A. Kinsler, Alan Pittman, Wei-Li Di, Tony Brooks, Heerni Halai, Anastasia Petrova, Mingyang Lee, Hong-Zhan Wang, Thomas W. White
Publikováno v:
J Invest Dermatol
Keratitis-ichthyosis-deafness (KID) syndrome is a severe, untreatable condition characterized by ocular, auditory, and cutaneous abnormalities, with major complications of infection and skin cancer. Most cases of KID syndrome (86%) are caused by a he
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17526e5a286938708a196b75f7a5dc91
https://europepmc.org/articles/PMC7395648/
https://europepmc.org/articles/PMC7395648/
Autor:
Weilong Zhong, Jie Zhang, Li Tang, Xianning Zhang, Xu Cao, Mingyang Lee, Linghan Hu, Xiuli Wang, Jiahui Zhao, Lina Duo, Yong Yang, Quan Chen, Huijun Wang, Cheng Feng, Zhimiao Lin
Publikováno v:
The Journal of investigative dermatology. 141(3)
We have previously shown that gain-of-function variations in transient receptor potential vanilloid-3 (TRPV3) underlay Olmsted syndrome, a rare hyperkeratotic skin channelopathy. In this study, we attempt to establish a genotype‒phenotype correlati