L. Lewi results 484
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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...
Early detection through mammographic screening plays a central role in improving breast cancer outcomes, with diagnostic accuracy relying heavily on radiologist performance. While experience and case volume are recognised contributors to accuracy, the specific effect of weekly mammogram reading hours (HPW) remains unclear. This study examined the relationship between HPW and diagnostic performance among BreastScreen (BS) radio...
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...
Mechanisms of breast cancer dormancy in bone metastasisNARA Subscribed
Bone metastasis remains a serious threat to breast cancer patients. This condition arises from the outgrowth of previously dormant tumour cells in this site. Dormant tumour cells are almost impossible to detect in human patents, and these cells acquire “stem like” characteristics rendering them resistant to current cancer therapies. Furthermore, the development of therapies to target this population has proved challenging. The...