Primary distal renal tubular acidosis (dRTA) is a rare tubular disease associated with variants in SLC4A1, ATP6V0A4, ATP6V1B1, FOXⅠ1, or WDR72 genes. Currently, there is growing evidence that all types of exonic variants can alter splicing regulatory elements, affecting the precursor messenger RNA (pre‐mRNA) splicing process. This study was to determine the consequences of variants associated with dRTA on pre‐mRNA splicing combined with predictive bioinformatics tools and minigene assay. As a result, among the 15 candidate variants, 7 variants distributed in SLC4A1 (c.1765C>T, p.Arg589Cys), ATP6V1B1 (c.368G>T, p.Gly123Val; c.370C>T, p.Arg124Trp; c.484G>T, p.Glu162* and c.1102G>A, p.Glu368Lys) and ATP6V0A4 genes (c.322C>T, p.Gln108* and c.1572G>A, p.Pro524Pro) were identified to result in complete or incomplete exon skipping by either disruption of exonic splicing enhancers (ESEs) and generation of exonic splicing silencers, or interference with the recognition of the classic splicing site, or both. To our knowledge, this is the first study on pre‐mRNA splicing of exonic variants in the dRTA‐related genes. These results highlight the importance of assessing the effects of exonic variants at the mRNA level and suggest that minigene analysis is an effective tool for evaluating the effects of splicing on variants in vitro.
To cope with global climate change and monitor global CO 2 concentration distribution, the first Chinese carbon dioxide satellite (TanSat) has been successfully launched in December 2016. In this study, we implemented a CO 2 retrieval scheme by calibrating the TanSat sun-glint (GL) mode spectra and adapting the Iterative Maximum A Posteriori Differential Optical Absorption Spectroscopy (IMAP-DOAS) algorithm for CO 2 spectral retrieval. The global terrestrial CO 2 total vertical column density (VCD) and column-averaged dry-air mole fractions of CO 2 (X CO2 ) were simultaneously retrieved Manuscript
Photobiomodulation (PBM) uses low‐intensity visible or near‐infrared light to produce beneficial effects on cells or tissues, such as brain therapy, wound healing. Still there is no consistent recommendation on the parameters (dose, light mode, wavelength, irradiance) and protocols (repetition, treatment duration) for its clinical application. Herein, we summarize the current PBM parameters for the treatment of melanoma, and we also discuss the potential photoreceptors and downstream signaling mechanisms in the PBM treatment of melanoma cells. It is hypothesized that PBM may inhibit the melanoma cells by activating mitochondria, OPNs, and other receptors. Regardless of the underlying mechanisms, PBM has been shown to be beneficial in treating melanoma. Through further in‐depth studies of the underlying potential mechanisms, it can strengthen the applications of PBM for the therapy of melanoma.
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