In the KEAP1-NRF2 stress response system, KEAP1 acts as a sensor for oxidative and
electrophilic stresses through formation of S–S bond and C–S bond, respectively. Of the …

Understanding the physiological changes associated with aging and the associated disease
risks is essential to establish biomarkers as indicators of biological aging. This study used …

Repeat expansions cause at least 50 hereditary disorders, including Friedreich ataxia and
other diseases known to cause mitochondrial dysfunction. We identified a patient with NAXE …

In cancer genome analysis, identifying pathogenic alterations and assessing their effects on
oncogenic processes is important. Although whole exome sequencing (WES) can effectively …

Variant annotations are crucial for efficient identification of pathogenic variants. In this study,
we retrospectively analyzed the utility of four annotation tools (allele frequency, ClinVar …

In esophageal squamous cell carcinoma, genetic activation of NRF2 increases resistance to
chemotherapy and radiotherapy, which results in a significantly worse prognosis for patients …

Cockayne syndrome (CS) is a rare autosomal recessive disorder caused by mutations in
ERCC8 or ERCC6. Most pathogenic variants in ERCC8 are single nucleotide substitutions …

Background N-glycosylation is a key post-translational modification critical for protein
function and stability. Chitotriosidase-1 (CHIT1), belonging to glycoside hydrolase family 18 …

In Japan, comprehensive genome profiling (CGP) as a companion diagnostic (CDx) has
been covered by public insurance since June 2019, but the proportion of patients with …

Abstract DSG2, encoding desmoglein-2, is one of the causative genes of arrhythmogenic
cardiomyopathy. We previously identified a homozygous DSG2 p. Arg119Ter stop-gain …