Ontology highlight
ABSTRACT:
SUBMITTER: Lyu YS
PROVIDER: S-EPMC5014458 | biostudies-literature | 2016 Mar
REPOSITORIES: biostudies-literature
Lyu Ya-Su YS Shi Pei-Liang PL Chen Xiao-Ling XL Tang Yue-Xiao YX Wang Yan-Fang YF Liu Rong-Rong RR Luan Xiao-Rui XR Fang Yu Y Mei Ru-Huan RH Du Zhen-Fang ZF Ke Hai-Ping HP Matro Erik E Li Ling-En LE Lin Zhao-Yu ZY Zhao Jing J Gao Xiang X Zhang Xian-Ning XN
Molecular therapy. Nucleic acids 20160322
Epidermolytic palmoplantar keratoderma (EPPK) is a relatively common autosomal-dominant skin disorder caused by mutations in the keratin 9 gene (KRT9), with few therapeutic options for the affected so far. Here, we report a knock-in transgenic mouse model that carried a small insertion-deletion (indel) mutant of Krt9, c.434delAinsGGCT (p.Tyr144delinsTrpLeu), corresponding to the human mutation KRT9/c.500delAinsGGCT (p.Tyr167delinsTrpLeu), which resulted in a human EPPK-like phenotype in the weig ...[more]