Zobrazeno 1 - 10
of 360
pro vyhledávání: '"SPINK5"'
Autor:
Johannes Pawlowski, Tatsiana Pukhalskaya, Kelly Cordoro, Marina Kristy Ibraheim, Jeffrey P. North
Publikováno v:
Dermatopathology, Vol 11, Iss 3, Pp 230-237 (2024)
Netherton syndrome (NS) is a rare autosomal recessive disorder that occurs due to a loss-of-function mutation in SPINK5; this loss results in significant inflammation, as well as perturbations of the skin barrier’s integrity and functionality. Whil
Externí odkaz:
https://doaj.org/article/d032c09be15944bba834221b39c10ba1
Akademický článek
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Publikováno v:
Case Reports in Dermatology, Vol 16, Iss 1, Pp 47-54 (2024)
Introduction: Netherton syndrome (NS) is a rare autosomal recessive genodermatosis in the group of congenital ichthyosis. The clinical manifestations of the syndrome vary from a very mild clinical manifestation occurring with the picture of ichthyosi
Externí odkaz:
https://doaj.org/article/764115ca868d4d28b32263aaf8002cd5
Autor:
Dong Suwei, Xiao Yanbin, Wang Jianqiang, Ma Xiang, Peng Zhuohui, Kang Jianping, Wang Yunqing, Li Zhen
Publikováno v:
Cellular & Molecular Biology Letters, Vol 27, Iss 1, Pp 1-17 (2022)
Abstract Melanoma is the most lethal skin cancer characterized by its high metastatic potential. It is urgent to find novel therapy strategies to overcome this feature. Metformin has been confirmed to suppress invasion and migration of various types
Externí odkaz:
https://doaj.org/article/68ab2221f95248468cfde77ed658b8e4
Publikováno v:
Pifu-xingbing zhenliaoxue zazhi, Vol 29, Iss 2, Pp 186-190 (2022)
Netherton syndrome (NS) is a rare recessive syndromic ichthyosis due to mutations in the SPINK5 gene characterized by a triad of congenital ichthyosiform erythroderma (CIE) and/or ichthyosis linearis circumflexa (ILC), hair shaft abnormalities, and e
Externí odkaz:
https://doaj.org/article/02ea942e898e4ac083c1cc2fbb769aa4
Autor:
Shi Yan, Xuege Wu, Jinqiu Jiang, Shijuan Yu, Xiao Fang, Huan Yang, Xiaoming Bai, Hua Wang, Xiaoyan Luo
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
BackgroundNetherton syndrome is a rare, life-threatening autosomal recessive genetic disorder with no effective treatment yet. Skin barrier dysfunction caused by SPINK5 gene mutations is a hallmark of the disease. Antigen penetration through the defe
Externí odkaz:
https://doaj.org/article/f855f769d8914a7aa8311a88abe251e0
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Netherton syndrome (NS, OMIM #256500) is a rare autosomal recessive disease characterized by a triad of congenital ichthyosiform erythroderma (CIE) or ichthyosis linearis circumflexa (ILC), trichorrhexis invaginata (TI), and atopic predisposition. Th
Externí odkaz:
https://doaj.org/article/35f5d68bcb034af19107dcee5d3d7677
Autor:
No-June Park, Sim-Kyu Bong, Sullim Lee, Yujung Jung, Hyun Jegal, Jinchul Kim, Si-Kwan Kim, Yong Kee Kim, Su-Nam Kim
Publikováno v:
Journal of Ginseng Research, Vol 44, Iss 6, Pp 799-807 (2020)
Background: The skin acts as a barrier to protect organisms against harmful exogenous agents. Compound K (CK) is an active metabolite of ginsenoside Rb1, Rb2 and Rc, and researchers have focused on its skin protective efficacy. In this study, we hypo
Externí odkaz:
https://doaj.org/article/9f32327c7af9447ba960a2d2795c8547
Publikováno v:
Balkan Journal of Medical Genetics, Vol 23, Iss 1, Pp 91-94 (2020)
Netherton syndrome (NS) is a rare genodermatosis characterized by the triad of ichthyosiform erythroderma, hair shaft abnormality and an atopic diathesis. We report a case of a 20-year-old male patient presented with pruritus, decreased sweat secreti
Externí odkaz:
https://doaj.org/article/0e96bc8946184cd2b0a975177d7b5be0
Autor:
Anouk E. M. Nouwen, Renske Schappin, N. Tan Nguyen, Aviël Ragamin, Anette Bygum, Christine Bodemer, Virgil A. S. H. Dalm, Suzanne G. M. A. Pasmans
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
BackgroundComèl-Netherton syndrome (NS) is a rare disease caused by pathogenic variants in the SPINK5 gene, leading to severe skin barrier impairment and proinflammatory upregulation. Given the severity of the disease, treatment of NS is challenging
Externí odkaz:
https://doaj.org/article/d4b1415509a34b7b9ac7386284b43df5