A5090260165- Congenital heart defects research
- Congenital Heart Disease Studies
- Connective tissue disorders research
- Coronary Artery Anomalies
- Dermatological and Skeletal Disorders
- Coronary Interventions and Diagnostics
- Peptidase Inhibition and Analysis
- Tissue Engineering and Regenerative Medicine
- Advanced Electron Microscopy Techniques and Applications
- Cardiovascular Issues in Pregnancy
- Vascular Malformations and Hemangiomas
- Cardiomyopathy and Myosin Studies
- Aortic Disease and Treatment Approaches
- Ubiquitin and proteasome pathways
- Cancer-related molecular mechanisms research
- Angiogenesis and VEGF in Cancer
- Congenital Diaphragmatic Hernia Studies
- Blood Coagulation and Thrombosis Mechanisms
Johns Hopkins Medicine
2019-2025
Johns Hopkins University
2019-2025
Oregon Health & Science University
2018-2021
Aortic dissection or rupture is a major cause of mortality in vascular Ehlers-Danlos Syndrome (vEDS), connective tissue disorder caused by heterozygous mutations the COL3A1 gene. C57BL6/J (BL6) mice carrying Col3a1 G938D/+ mutation recapitulate vEDS phenotype and die suddenly aortic rupture/dissection. However, 129S6/SvEvTac (129) expressing same show near-complete life-long protection from rupture. To identify genetic modifiers risk vEDS, we performed genome-wide genotyping intercrossed...
Vascular Ehlers-Danlos syndrome (vEDS) is an autosomal-dominant connective tissue disorder caused by heterozygous mutations in the COL3A1 gene, which encodes pro-α 1 chain of collagen III. Loss structural integrity extracellular matrix believed to drive signs and symptoms this condition, including spontaneous arterial dissection and/or rupture, major cause mortality. We created 2 mouse models vEDS that carry Col3a1 encode glycine substitutions analogous those found patients, we showed...
Protection from pregnancy-associated aortic dissection is achieved by decreasing oxytocin-induced ERK signaling in a mouse model of Marfan syndrome.
Cardiac pumping depends on the morphological structure of heart, but also its subcellular (ultrastructural) architecture, which enables cardiac contraction. In cases congenital heart defects, localized ultrastructural disruptions that increase risk failure are only starting to be discovered. This is in part due a lack technologies can image three-dimensional (3D) structure, assess malformations; and ultrastructure, organelle disruptions. We present here multiscale, correlative imaging...
Abstract Vascular endothelial growth factor (VEGF) plays a critical role during early heart development. Clinical evidence shows that conditions associated with changes in VEGF signaling utero are correlated an increased risk of congenital defects (CHD) newborns. However, how malformations develop after abnormal exposure is unknown. During embryogenesis, primitive heart, consisting endocardial tube enveloped by myocardial mantle, the first organ to function. This tubular ultimately...
Journal Article Multiscale Cardiac Imaging: From Whole Heart Images to Ultrastructure Get access Graham Rykiel, Rykiel Biomedical Engineering, Oregon Health & Science University, Portland, Oregon, USA Search for other works by this author on: Oxford Academic Google Scholar Claudia S López, López USAMultiscale Microscopy Core, Jessica L Riesterer, Riesterer Melissa Williams, Williams Katherine Courchaine, Courchaine Alina Maloyan, Maloyan Center Developmental Health, Knight Cardiovascular...
Congenital Heart Defects (CHDs) are multi‐factorial in origin, and there is a critical need to identify other contributing factors the development of CHDs. Endogenous that regulate development, such as altered levels cardiovascular growth embryo/fetus, may initiate or contribute Our objective was determine if alteration Vascular Endothelial Growth Factor (VEGF) at key developmental periods leads reproducible defects, which be correlated with underlying cell behavior, physiological parameters...
Vascular Ehlers-Danlos Syndrome (vEDS) is an autosomal-dominant connective tissue disorder caused by heterozygous mutations in the COL3A1 gene[1][1]. Currently, loss of structural integrity extracellular matrix believed to drive signs and symptoms this condition, including
Vascular Endothelial Growth Factor (VEGF) plays a critical role during heart development. Clinical evidence shows that maternal conditions modify VEGF signaling in utero , such as high altitude hypoxia and diabetes, are correlated with an increased risk of congenital defects. While is essential for vasculogenesis angiogenesis, its early tube formation not fully understood. During embryogenesis, paired endocardial tubes fuse into single linear tube, which ultimately transforms four‐chambered...
Abstract Efficient cardiac pumping depends on the morphological structure of heart, but also its sub-cellular (ultrastructural) architecture, which enables contraction. In cases congenital heart defects, localized disruptions in architecture that increase risk failure are only starting to be discovered. This is part due a lack technologies can image three dimensional (3D) structure, assessing malformations; and ultrastructure, disruptions. We present here multiscale, correlative imaging...