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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...
Early outcomes of England's new biodiversity offset marketNARA Subscribed
Nature markets are being operationalized as a tool to address the biodiversity finance gap and achieve global biodiversity targets. However, there is limited understanding of how the outcomes of these markets align with biodiversity targets. One example is the off‐site market supporting construction projects that are required to achieve biodiversity net gain (BNG) in England. To quantify the preliminary market outcomes after 1...
In July 2022, a harmful algal bloom of Heterosigma akashiwo originated in a man-made lagoon and expanded to more than 4,500 km² of open-water habitat in the San Francisco Estuary, triggering a widespread mass mortality event involving bony fishes, sharks, rays, crustaceans, mollusks, polychaetes, and jellyfish. Notably, the event affected the southernmost spawning populations of White Sturgeon ( Acipenser transmontanus ) and f...
Effect of six weeks ubiquinol supplementation on mitochondrial respiratory function and exercise capacity in healthy malesNARA Subscribed
Coenzyme Q10 (CoQ 10 ) is an integral component of the mitochondrial electron transfer system. Most studies have administered the oxidised form of CoQ 10 (ubiquinone) and observed no effects on mitochondrial respiratory function or endurance exercise performance. The reduced form of CoQ 10 , ubiquinol (UQH 2 ), has greater bioavailability than ubiquinone, but the effects of UQH 2 supplementation on mitochondrial respiratory fu...