Article
Survey of single-nucleotide polymorphisms in the gene encoding human deoxyribonuclease I-like 2 producing loss of function potentially implicated in the pathogenesis of parakeratosis.
PloS one - 1 Jan 2017
Ueki Misuzu, Takeshita Haruo, Utsunomiya Natsuko, Chino Takanao, Oyama Noritaka, Hasegawa Minoru, Kimura-Kataoka Kaori, Fujihara Junko, Iida Reiko, Yasuda Toshihiro
Abstract excerpt
Dysfunction of DNase I-like 2 (DNase 1L2) has been assumed to play a role in the etiology of parakeratosis through incomplete degradation of DNA in the epidermis. However, the pathogenetic background factor for such pathophysiologic conditions remains unknown. In this context, non-synonymous single-nucleotide polymorphisms (SNPs) in DNASE1L2 that would potentially result in loss of in vivo DNase 1L2 activity...
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