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Development of RS1-specific ACMG/AMP variant classification criteria with pilot variant curationNARA Subscribed
Gene-based therapies are being developed for retinal diseases, including RS1- related X-linked retinoschisis. Therefore it is essential to determine which variants are pathogenic and which are benign when enrolling patients. The Clinical Genome Resource (ClinGen) X-Linked Inherited Retinal Diseases (XLRD) Variant Curation Expert Panel (VCEP) brings together clinician scientists, molecular biologists, and geneticists to apply t...
Molecular and toxicogenetic safety profile of short-term nitrous oxide anesthesia in surgical patientsNARA Subscribed
Background Nitrous oxide (N2O) is a widely used anesthetic; however, its potential to compromise genomic stability by disrupting vitamin B12 and folate metabolism remains a critical concern in clinical molecular biology. Since N2O can oxidize cobalamin, it may theoretically impair the methionine synthase pathway, leading to DNA damage. Thus, this study aimed to evaluate the toxicogenetic impact—DNA damage and gene expression—a...
The SbTDR gene is required for anther development and male fertility in Sorghum bicolorNARA Subscribed
Anthers are essential in plant reproduction and are also crucial in agriculture, because hybrid seed production typically relies on the manipulation of male fertility. Sorghum ( Sorghum bicolor L. Moench) is the fifth most produced grain crop in the world. However, relatively little is known about the genetic mechanisms that regulate anther development and male fertility in sorghum. Here, we report the morphological characteri...
How Did a Size‐Divergent Water Strider Species Group Exhibiting an East Asia–Eastern North America Disjunction Originate and Diversify?NARA Subscribed
The classic East Asia–Eastern North America (EA‐ENA) disjunction, well‐documented in temperate plants, is typically attributed to the fragmentation of once‐continuous high‐latitude ranges by climatic cooling and regional extinction. Whether this model extends to insects, particularly aquatic groups, remains largely untested with genomic data. Here, we integrate whole‐genome sequencing, ddRAD‐seq and morphology with phylogeneti...