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.
Results
Showing 1 to 11 of 11 for “"acta2"”.
-
Characterization of The Vascular Pathology In The Acta2 R258C Mouse Model and Cerebrovascular Characterization of The Acta2 Null Mouse
<p>Mutations in<em> ACTA2, </em>the gene encoding for smooth muscle α-actin, predispose patients to a wide range of vascular diseases and is most commonly associated with thoracic aortic aneurysms (TAAD) and dissections (TAAD) and strokes. TAAD in patients is characterized by aortic media …
-
Mechanism of Rare Variant In Acta2, P.Arg149Cys, Driving Diverse Vascular Disease
<p>Heterozygous variants in <em>ACTA2</em> (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> …
-
Effects of The Acta2 R258C Mutation On Vascular Smooth Muscle Cell Phenotype and Properties
… commonly mutated gene in these families is <em>ACTA2</em>, encoding smooth muscle-specific α-actin. <em>ACTA2</em> missense mutations predispose individuals both to TAAD and to vascular occlusive disease of small, muscular arteries.</p> <p>Mice carrying an <em>Acta2 </em>R258C mutant transgene …
-
Smooth Muscle Hyperplasia Due to Acta2/Myh11 Mutations: Identification of Novel Pathology and Pathways Leading to Aneurysms and Diverse Vascular Occlusive Diseases
… mutations in smooth 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 …
-
Targeting Metabolic Alterations Associated With Smooth Muscle Α-Actin Pathogenic Variant Attenuates Moyamoya-Like Cerebrovascular Disease
<p>Heterozygous pathogenic variants in <em>ACTA2</em>, encoding 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 …
-
Smooth Muscle Cell Stress Response: Essential in Atherosclerotic Pathogenesis
… that heterozygous missense mutations in ACTA2, which encodes smooth muscle-specific α-actin (SM α-actin), predispose to premature coronary artery disease (CAD).</p> <p>In this dissertation, I conducted an in-depth analysis on the SMC stress response in atherosclerosis formation in vivo. …
-
Pharmacologic and Genetic Manipulations of Angiotensin Signaling In Thoracic Aortic Disease Models
… in the gene encoding smooth muscle alpha-actin, ACTA2, were modeled with Acta2-/- mice. I found that the ascending aorta and aortic root in these mice become significantly dilated over time. Acta2-/- mice are hypotensive, and increasing the blood pressure with a pharmaceutical and diet based …
-
Analysis of the biochemical mechanisms of heterotopic ossification following musculoskeletal trauma
… were seen in the injury samples. Prrx1 and Acta2 expression were significantly higher in the injury and no injury conditions than in the control. Sox9 was expressed significantly higher in the no injury condition compared to the control. Finally, Acan, Sox9, Runx2, and DMP1 were all …
-
Regulation of Lung Mesenchymal Cells By Epithelial Wnt Ligands
… also showed increased smooth muscle actin (ACTA2) expression in pericytes in the adult murine lung, a phenotype reminiscent to pulmonary hypertension. This phenotype was also confirmed by single cell RNA-seq, which additionally showed reduction in <em>Axin2</em>, a canonical Wnt target gene, …
-
Molecular Mechanisms of Vascular Disease In Patients With Rare Variants In Myh11
… murine model of aneurysm formation, the <em>Acta2<sup>-/-</sup> </em>mouse. Over time, mice carrying the R247C allele in conjunction with heterozygous or homozygous loss of <em>Acta2 </em>had significantly increased aortic diameter, and a more rapid accumulation of pathologic markers. These …
-
Vascular Disease Pathogenesis In Smooth Muscle Dysfunction Syndrome and Majewski Osteodysplastic Primordial Dwarfism Type Ii
… rare condition due to pathogenic variants in <em>ACTA2 </em>p.Arg179, which lead to dysfunction of smooth muscle cells (SMCs) throughout the body. Complications of SMDS include early-onset thoracic aortic aneurysms and dissections, moyamoya-like cerebrovascular disease, patent ductus arteriosus, …