Modified bases act as marks on cellular RNAs so that they can be distinguished from foreign
RNAs, reducing innate immune responses to endogenous RNA. In humans, mutations …

Dyschromatosis symmetrica hereditaria (DSH) and reticulate acropigmentation of Kitamura
(RAK) are rare, inherited pigmentary diseases. DSH shows a mixture of pigmented and …

Aicardi‐Goutières syndrome (AGS) is a progressive genetic encephalopathy caused by
pathogenic mutations in genes controlling cellular anti‐viral responses and nucleic acid …

MicroRNAs (miRNAs) are synthesized through a canonical pathway and play a role in
human diseases, such as cancers and cardiovascular, neurodegenerative, psychiatric, and …

ADAR1 variants are associated to rare and heterogenous neurological conditions, including
Aicardi-Goutières syndrome type 6, bilateral striatal necrosis, and dyschromatosis …

Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis caused by
mutations in ADAR1. In this study, we performed mutation analysis on a family that included …

Dyschromatosis symmetrica hereditaria (DSH) is caused by a heterozygous ADAR1
mutation [1] and is characterized by a mixture of hyper-and hypo-pigmented small macules …

The type I interferonopathies comprise a heterogenous group of monogenic diseases
associated with a constitutive activation of type I interferon signaling. The elucidation of the …

The article presents a case study on the detection of ADAR1 mutation in a seven-year-old
girl with skin disease dyschromatosis symmetrica hereditaria and chilblains due to the …

Background: Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant
skin disease. The mutation of the ADAR1 gene is the pathogenesis of this disorder. Aims …