Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 8 of 8 for “"thoracic aortic aneurysms and dissections"”.
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Smooth Muscle Hyperplasia Due to Acta2/Myh11 Mutations: Identification of Novel Pathology and Pathways Leading to Aneurysms and Diverse Vascular Occlusive Diseases
… muscle cell (SMC) specific ACTA2 (á-actin) and MYH11 (â-myosin heavy chain) cause diffuse and diverse vascular diseases, including thoracic aortic aneurysms and dissections (TAAD) and early onset coronary artery disease and stroke. The mechanism by which these mutations lead to dilatation of …
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Proteomic analysis of the olfactory mucosa, thoracic aorta, urinary bladder, and descending colon of smooth muscle alpha actin null mutant mice
… alpha actin is one of six mammalian isoforms and the predominant isoform in vascular smooth muscle. In mice and humans lacking functional SMAA, pathophysiological changes have been identified in the aorta, bladder, colon, and olfactory ensheathing cell population in the olfactory nervous …
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Pharmacologic and Genetic Manipulations of Angiotensin Signaling In Thoracic Aortic Disease Models
<p>Thoracic aortic aneurysms and dissections (TAAD) are a major cause of morbidity and mortality in patients. Many different risk factors have been associated TAAD, but hypertension is the largest risk factor. Subsets of TAAD patients have identifiable syndromic genetic diseases, yet a number of …
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Vascular Disease Pathogenesis In Smooth Muscle Dysfunction Syndrome and Majewski Osteodysplastic Primordial Dwarfism Type Ii
… diseases are a leading cause of morbidity and mortality world-wide. Understanding their pathogenesis is crucial to better diagnosis and management of these life-threatening conditions. Through the study of rare mutations that lead to early onset and severe vascular diseases, we can …
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Effects of The Acta2 R258C Mutation On Vascular Smooth Muscle Cell Phenotype and Properties
<p>Thoracic Aortic Aneurysms and Dissections (TAAD) are the fifteenth leading cause of death in the United States. About 15% of TAAD patients have family history of the disease. The most commonly mutated gene in these families is <em>ACTA2</em>, encoding smooth muscle-specific α-actin. …
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Molecular Mechanisms of Vascular Disease In Patients With Rare Variants In Myh11
<p>Thoracic aortic aneurysms and dissections (TAAD) are the primary disease affecting the thoracic ascending aorta, with an incidence rate of 10.4/100,000. Although about 20% of patients carry a mutation in a single gene that causes their disease, the remaining 80% of patients may also have genetic …
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Mechanism of Rare Variant In Acta2, P.Arg149Cys, Driving Diverse Vascular Disease
… (smooth muscle (SM) α-actin) predispose to thoracic aortic aneurysms and dissections (TAAD) and early-onset coronary artery disease (CAD). The most common <em>ACTA2</em> mutation is a genetic alteration of arginine 149 to a cysteine, <em>ACTA2</em> p.Arg149Cys, which accounts for disease in …
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Targeting Metabolic Alterations Associated With Smooth Muscle Α-Actin Pathogenic Variant Attenuates Moyamoya-Like Cerebrovascular Disease
… smooth muscle α-actin (α-SMA), predispose to thoracic aortic aneurysms and dissections. <em>De novo</em> missense variants disrupting <em>ACTA2 </em>arginine 179 (p.Arg179) cause a multisystemic disease termed smooth muscle dysfunction syndrome (SMDS), which is characterized by early onset …