Clinical exome sequencing has yielded extensive disease-related missense single-nucleotide variants (SNVs) of uncertain significance, leading to diagnostic uncertainty. is one of the most commonly responsible genes for autosomal dominant nonsyndromic hearing loss. According to the gnomAD cohort, approximately one in 100 people harbors missense variants in (missense variants with minor allele frequency > 0.
View Article and Find Full Text PDFKv7.4 (KCNQ4) voltage-gated potassium channels control excitability in the inner ear and the central auditory pathway. Mutations in Kv7.
View Article and Find Full Text PDFMagnesium is an essential ion for numerous physiological processes. MgtE is a Mg selective channel involved in the maintenance of intracellular Mg homeostasis, whose gating is regulated by intracellular Mg levels. Here, we report that ATP binds to MgtE, regulating its Mg-dependent gating.
View Article and Find Full Text PDFThe aim of the present study was to investigate the effect and mechanism of different concentrations of aspirin in inhibiting the ovarian cancer of p53N236S gene knock-in mice. In total, 28 male p53S mice, with an age range of 4-6 weeks and weight of 20-25 g were selected. The animals were transplanted with SKOV3 cells to establish subdermal human ovarian cancer.
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