Background: Variants in the mitochondrial genome (mtDNA) cause a diverse collection of mitochondrial diseases and have extensive phenotypic overlap with Mendelian diseases encoded on the nuclear genome. The mtDNA is often not specifically evaluated in patients with suspected Mendelian disease, resulting in overlooked diagnostic variants.
Methods: Using dedicated pipelines to address the technical challenges posed by the mtDNA - circular genome, variant heteroplasmy, and nuclear misalignment - single nucleotide variants, small indels, and large mtDNA deletions were called from exome and genome sequencing data, in addition to RNA-sequencing when available.
Species-specific interferon responses are shaped by the virus-host arms race. The human interferon-induced transmembrane protein (IFITM) family consists of three antiviral IFITM genes that arose by gene duplication. These genes restrict virus entry and are key players in antiviral interferon responses.
View Article and Find Full Text PDFHaynes, H, Tinsley, GM, Swafford, SH, Compton, AT, Moore, J, Donahue, PT, and Graybeal, AJ. Mobile anthropometry in Division I baseball athletes: evaluation of an existing application and the development of new equations. J Strength Cond Res XX(X): 000-000, 2024-The purpose of this study was to evaluate the agreement between mobile application and dual-energy x-ray absorptiometry (DXA)-derived body composition parameters in a group of Division I (DI) collegiate baseball athletes and to develop new equations for this population using this mobile technique.
View Article and Find Full Text PDF