Keratinization disorders Epidermolytic hyperkeratosis KRT1, KRT10 12 Epidermolytic PPK KRT9 12 Non-epidermolytic PPK KRT16 12 Vohwinkel’s syndrome LOR 31 Ichthyosis bullosa Siemens KRT2e 64 Pachonychia congenita type 1/2 KRT6a, 16, 17 64 X-linked ichthyosis STS 7 Lamellar ichthyosis TGM1 31 Palmoplantar keratoderma GJB2 61 with deafness Erythrokeratodermia variabilis GJB3 60 Darier’s disease AT...

References 1 Fischer J. Autosomal recessive congenital ichthyosis. J Invest Dermatol 2009; 129: 1319–1321. 2 Akiyama M, Takizawa Y, Kokaji T, et al. Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma. Br J Dermatol 2001; 144: 401–407. 3 Herman ML, Farasat S, Steinbach PJ, et al. Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of...

Lamellar ichthyosis is a keratinization disorder caused by TGM1, Ichthyin and several other gene mutations. A new treatment option is liarozole, which blocks the cytochrome P450 (CYP26)-mediated catabolism of endogenous all-trans retinoic acid. This study focuses on the expression of retinoid-related genes in ichthyotic epidermis before and after treatment with oral liarozole. We first compared...

Changbing Shen1, Jing Gao2, Randy Ko 3, Zhongying Wang1, Shengxiu Liu1, Yongjiang Li1, Mingjun Tang1, Weiwei Yin1, Chunjun Yang1* and Xuejun Zhang1,2* 1Institute and Department of Dermatology, the First Affiliated Hospital, Anhui Medical University, Hefei 230032, Anhui, China 2Department of Dermatology, the Second Affiliated Hospital, Anhui Medical University, Hefei 230601, Anhui, China 3Depart...

nitrogen acquisition of Chrysanthemum morifolium under salt stress 2 3 Yanhong Wang1*, Minqiang Wang1, Yan Li1, Aiping Wu2, Juying Huang3 4 5 1 State Key Laboratory of Subtropical Silviculture, Zhejiang A&F University , Hangzhou 311300, 6 Zhejiang, China; [email protected] 7 2 Hunan Provincial Key Laboratory of Rural Ecosystem Health in Dongting Lake Area, Hunan 8 Agricultural University, Chang...

Among the adaptations of aquatic species during evolution of terrestrial tetrapods was the development of an epidermis preventing desiccation. In present day mammals, keratinocytes of the epidermis, using a membrane-bound transglutaminase (Tgm1), accomplish this function by synthesizing a scaffold of cross-linked protein to which a lipid envelope is attached. This study characterizes the abilit...

lamellar ichthyosis is one form of congenital autosomal recessive ichthyosis. to date, seven causative genes for arci have been identified. to understand further the genetic spectrum of the disease, we analyzed a four-generation iranian family with arci that had observable inheritance. exome sequencing data for one of the affected individuals with ichthyosis from a consanguineous iranian family...