A5009497657- Connective tissue disorders research
- Williams Syndrome Research
- Extracellular vesicles in disease
- Cancer-related molecular mechanisms research
- Aortic Disease and Treatment Approaches
- MicroRNA in disease regulation
- Circular RNAs in diseases
- Congenital heart defects research
- Congenital Heart Disease Studies
- Cardiac Valve Diseases and Treatments
- Intracerebral and Subarachnoid Hemorrhage Research
- Pulmonary Hypertension Research and Treatments
- Cardiovascular Issues in Pregnancy
- Cardiomyopathy and Myosin Studies
- Aortic aneurysm repair treatments
- Blood Coagulation and Thrombosis Mechanisms
- Genomic variations and chromosomal abnormalities
- Hepatitis C virus research
- Acute Ischemic Stroke Management
- Myasthenia Gravis and Thymoma
- BRCA gene mutations in cancer
- Glioma Diagnosis and Treatment
- Pituitary Gland Disorders and Treatments
- Genomics and Rare Diseases
- Cancer Mechanisms and Therapy
Baylor College of Medicine
2020-2025
Texas Children's Hospital
2021-2025
Translational Genomics Research Institute
2015-2021
Abstract Interest in circulating RNAs for monitoring and diagnosing human health has grown significantly. There are few datasets describing baseline expression levels total cell-free RNA from healthy control subjects. In this study, extracellular (exRNA) was isolated sequenced 183 plasma samples, 204 urine samples 46 saliva 55 male college athletes ages 18–25 years. Many participants provided more than one sample, allowing us to investigate variability an individual’s exRNA over time. Here...
Rapid identification of patients suffering from cerebral ischaemia, while excluding intracerebral haemorrhage, can assist with patient triage and expand access to chemical mechanical revascularization. We sought identify blood-based, extracellular microRNAs 15 (ex-miRNAs) derived vesicles associated major stroke subtypes using clinical samples subjects spontaneous intraparenchymal haemorrhage (IPH), aneurysmal subarachnoid (SAH) ischaemic due vessel occlusion. collected blood presenting IPH...
Accumulating evidence indicates that microRNAs play a role in number of disease processes including the pathogenesis liver fibrosis hepatitis C infection. Our goal is to add accruing information regarding microRNA deregulation increase our understanding underlying mechanisms pathology and progression.We used next generation sequencing profile all detectable tissue serum from patients with C, stages F1-F4 fibrosis.We found altered expression several microRNAs, particular, miR-182, miR199a-5p,...
Abstract Circular RNA (circRNA) are a recently discovered class of characterized by covalently-bonded back-splice junction. As circRNAs inherently more stable than other species, they may be detected extracellularly in peripheral biofluids and provide novel biomarkers. While circRNA have been identified previously biofluids, there few datasets for junctions from healthy controls. We collected 134 plasma 114 urine samples 54 healthy, male college athlete volunteers, used RNASeq to determine...
We aimed to describe the frequency and yield of genetic testing in supravalvar aortic stenosis (SVAS) following negative evaluation for Williams-Beuren syndrome (WS).
Background Arterial tortuosity is associated with adverse events in Marfan and Loeys-Dietz syndromes but remains understudied Vascular Ehlers-Danlos syndrome. Methods Results Subjects a pathogenic COL3A1 variant diagnosed at age <50 years were included from 2 institutions the GenTAC Registry (National of Genetically Triggered Thoracic Aortic Aneurysms Cardiovascular Conditions). Height-adjusted vertebral artery index (VTI-h) using magnetic resonance or computed tomography angiography was...
Introduction: Cardiovascular outcomes in Williams syndrome (WS) with supravalvar aortic stenosis (SVAS) compared to those non-Williams SVAS (NW-SVAS) have not been well-described literature. Hypothesis: are similar patients WS and NW-SVAS as both typically mediated by elastin ( ELN ) deficiency. Methods: We included all (pts) at our institution 1) or 2) negative testing for (2003-2020), excluding pts Alagille Turner syndrome, isolated bicuspid valve, postoperative acquired SVAS, insufficient...
Introduction: Adamantinomatous craniopharyngiomas (aCP) are usually driven genetically by mutations of the β-catenin pathway. However, these tumors have heterogeneity in clinical aggressiveness and occur along a bimodal age distribution for unclear reasons. Our group recently performed first RNA deep-sequencing aCPs, here we report subset analysis elucidating expression-based molecular differences across aCP distribution.
Background: Rapid identification of patients suffering from cerebral ischemia, while excluding intracerebral hemorrhage, can assist with patient triage and expand access to chemical mechanical revascularization. We sought identify blood-based, extracellular microRNAs (ex-miRNAs) predictive major stroke subtypes using clinical samples subjects intraparenchymal hemorrhage (IPH), subarachnoid (SAH), ischemic due vessel occlusion.Methods: collected blood presenting IPH (n=19), SAH (n=17) (n=21)....
Background The cardiovascular findings noted in both Williams syndrome (WS) and non-Williams (NW) supravalvar aortic stenosis (SVAS) are most often mediated by abnormal or deficient elastin (ELN). Branch pulmonary artery (BPAS) is the next common lesion after SVAS. prevalence, interventions for, outcomes of BPAS WS NW SVAS has not been well-described. Aim Describe compare intervention patients with SVAS. Subjects Methods We included all patients at our institution with either...
Introduction: Arterial tortuosity syndrome (ATS) is an ultra-rare arteriopathy caused by pathogenic biallelic variants in SLC2A10 leading to tortuosity, elongation, and dilation of vessels, pulmonary artery (PA) stenosis (Fig 1). No studies date have evaluated the progression cardiovascular (CV) features, including aortic root (AR) ascending aorta (AA) dilation. Hypothesis: We hypothesize AR AA progress similar other aortopathies with increase dimensions but stable z-scores childhood....