P. Lewis results 358
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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...
We have attempted to re-establish bay scallops to the Virginia, U.S.A. coastal bays and document the dynamics of the restoration effort. Bay scallops ( Argopecten irradians ) once flourished in the eelgrass ( Zostera marina ) of the Virginia coastal bays. Eelgrass wasting disease led to declines, and both eelgrass and scallops were completely lost after a 1933 hurricane. The Virginia Institute of Marine Science (VIMS) led a su...
An Update on Advancement in Genomics Resources for Spiny Lobster Aquaculture DevelopmentNARA Subscribed
The rapid advancement of high‐throughput sequencing technologies has transformed aquaculture genomics, enabling unprecedented insights into the biology and improvement of non‐model aquatic species. Among crustaceans, lobsters represent one of the most commercially valuable yet genomically underexplored taxa. This review synthesises the current state of genomic and transcriptomic resources available for spiny and slipper lobste...
Consequential life cycle assessment of European livestock systems: current practices, limitations, and prioritiesNARA Subscribed
A systems-level understanding of livestock production and its environmental consequences is essential for informing sustainability transitions and evidence-based policy in Europe. While life cycle assessment (LCA) is widely applied in this context, the use of consequential LCA (CLCA), which aims to capture market-mediated and structural system responses, remains comparatively limited. This study provides a critical synthesis o...
Marine Isotope Stage 4 glaciation in northern England, UK: Evidence from Victoria Cave, North YorkshireNARA Subscribed
Victoria Cave, north Yorkshire, England, contains a long sequence of Pleistocene clastic sediments and calcite flowstones. Earlier work, using U–Th dating, established that the flowstone units formed in interglacial stages corresponding to Marine Isotope Stages (MIS) 13, 11, 9, 7 and 5. The intervening laminated sediments were therefore assigned to glacial stages (MIS 12, 10, 6 and 2) and regarded as rhythmites that settled fr...
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...
At least 10 minutes of seated rest is required for stabilisation of blood-based hydration biomarkersNARA Subscribed
Postural changes elicit well-described haemodynamic effects on plasma volume, affecting blood-based hydration variables. While the time required for plasma volume stabilisation is well-established for supine rest, less is known for blood samples collected in a seated position, as is commonplace in physiology and nutrition experiments. Seventeen healthy participants (9 males; 8 females) stood stationary for 20 min in an upright...