Cargando…
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
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-...
Autores principales: | Ueki, Misuzu, Takeshita, Haruo, Utsunomiya, Natsuko, Chino, Takanao, Oyama, Noritaka, Hasegawa, Minoru, Kimura-Kataoka, Kaori, Fujihara, Junko, Iida, Reiko, Yasuda, Toshihiro |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2017
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5386265/ https://www.ncbi.nlm.nih.gov/pubmed/28394916 http://dx.doi.org/10.1371/journal.pone.0175083 |
Ejemplares similares
-
Low genetic heterogeneity of copy number variations (CNVs) in the genes encoding the human deoxyribonucleases 1-like 3 and II potentially relevant to autoimmunity
por: Ueki, Misuzu, et al.
Publicado: (2019) -
Evaluation of the functional effects of genetic variants‒missense and nonsense SNPs, indels and copy number variations‒in the gene encoding human deoxyribonuclease I potentially implicated in autoimmunity
por: Ueki, Misuzu, et al.
Publicado: (2019) -
Three Nonsynonymous Single Nucleotide Polymorphisms in the RhitH Gene Cause Reduction of the Repression Activity That Leads to Upregulation of M-LPH, a Participant in Mitochondrial Function
por: Iida, Reiko, et al.
Publicado: (2013) -
Knockout of Mpv17-Like Protein (M-LPH) Gene in Human Hepatoma Cells Results in Impairment of mtDNA Integrity through Reduction of TFAM, OGG1, and LIG3 at the Protein Levels
por: Iida, Reiko, et al.
Publicado: (2018) -
A Case of Erythema Multiforme Major Developed after Sequential Use of Two Immune Checkpoint Inhibitors, Nivolumab and Ipilimumab, for Advanced Melanoma: Possible Implication of Synergistic and/or Complementary Immunomodulatory Effects
por: Utsunomiya, Akira, et al.
Publicado: (2018)