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Articles 1 - 2 of 2
Full-Text Articles in Medicine and Health Sciences
Impact Of Personal, Familial, And Socioeconomic Factors On The Return Of Remotely Collected Samples For Genetic Testing, Jordan Zeiger
Impact Of Personal, Familial, And Socioeconomic Factors On The Return Of Remotely Collected Samples For Genetic Testing, Jordan Zeiger
Dissertations & Theses (Open Access)
There are a multitude of barriers known to impact access to medical care in the United States. COVID-19 has changed and compounded these barriers and led to a shift in the setting of the genetic counseling (GC) appointment, and in sample types used for genetic testing, specifically with use of telemedicine and remotely collected saliva kits. Previous studies have described lack of patient follow-through in returning these kits. Though the understanding of barriers to medical care, including access to genetics services, is well described, there is little in the literature for how these barriers impact the return of remotely collected …
Targeting Metabolic Alterations Associated With Smooth Muscle Α-Actin Pathogenic Variant Attenuates Moyamoya-Like Cerebrovascular Disease, Anita Kaw
Dissertations & Theses (Open Access)
Heterozygous pathogenic variants in ACTA2, encoding smooth muscle α-actin (α-SMA), predispose to thoracic aortic aneurysms and dissections. De novo missense variants disrupting ACTA2 arginine 179 (p.Arg179) cause a multisystemic disease termed smooth muscle dysfunction syndrome (SMDS), which is characterized by early onset thoracic aortic disease and moyamoya disease-like (MMD) cerebrovascular disease. The MMD-like cerebrovascular disease in SMDS patients is marked by bilateral steno-occlusive lesions in the distal internal carotid arteries (ICAs) and their branches. To study the molecular mechanisms that underlie the ACTA2 p.Arg179 variants, a smooth muscle-specific Cre-lox knock-in mouse model of the heterozygous Acta2 R179C variant, termed …