- Cellular Mechanics and Interactions
- Cardiac electrophysiology and arrhythmias
- Ion channel regulation and function
- Cardiomyopathy and Myosin Studies
- Spectroscopy Techniques in Biomedical and Chemical Research
- Williams Syndrome Research
- 3D Printing in Biomedical Research
- Spectroscopy and Chemometric Analyses
- Blood properties and coagulation
- Cardiovascular Function and Risk Factors
- Receptor Mechanisms and Signaling
- Tissue Engineering and Regenerative Medicine
- Cardiac Valve Diseases and Treatments
- Gold and Silver Nanoparticles Synthesis and Applications
- RNA Interference and Gene Delivery
- Connective tissue disorders research
- Congenital heart defects research
- Nuclear Receptors and Signaling
- Pulmonary Hypertension Research and Treatments
- RNA and protein synthesis mechanisms
- Polysaccharides Composition and Applications
- MicroRNA in disease regulation
- Mitochondrial Function and Pathology
- Cancer Cells and Metastasis
- Advanced biosensing and bioanalysis techniques
Alnylam Pharmaceuticals (United States)
2021-2022
Technological University Dublin
2022
University of California, Irvine
2015-2021
Arena Pharmaceuticals (United States)
2019
Novartis (United States)
2014-2016
Samueli Institute
2016
22q11 Ireland
2014-2015
Beckman Laser Institute and Medical Clinic
2015
UC Irvine Health
2014
Boston Children's Hospital
2004
The familial long-QT syndrome is characterized by a prolonged QT interval on the electrocardiogram, ventricular arrhythmias, and sudden death. It not certain, however, that length of sensitive or specific diagnostic criterion. Recently, we identified genetic markers chromosome 11 distinguished between carriers noncarriers gene for in three families. In this study, compared clinical features assessed accuracy interval.
Genetic factors contribute to heart disease. In this study, linkage analyses have been performed in a family that is predisposed sudden death from cardiac arrhythmias, the long QT syndrome (LQT). A DNA marker at Harvey ras -1 locus (H- -1) was linked LQT with logarithm of likelihood ratio for (lod score) 16.44 θ = 0, which confirms genetic basis trait and localizes gene short arm chromosome 11. As no recombination observed between H- -1, there physiological rationale its involvement disease,...
The pathogenesis of vascular disease is unclear, but genetic factors play an important role. In this study we performed linkage analyses in two families with supravalvular aortic stenosis, inherited disorder that causes narrowing major arteries and may lead to cardiac overload failure. DNA markers on the long arm chromosome 7 (D7S371, D7S395, D7S448, ELN) were linked stenosis both a combined logarithm likelihood for (lod score) 5.9 at ELN locus. These findings indicate gene located same...
Human neural stem/progenitor cells (hNSPCs) are good candidates for treating central nervous system (CNS) trauma since they secrete beneficial trophic factors and differentiate into mature CNS cells; however, many die after transplantation. This cell death can be ameliorated by inclusion of a biomaterial scaffold, making identification optimal scaffolds hNSPCs critical research focus. We investigated the properties fibrin-based their effects on found that fibrin generated from salmon...
Pluripotent stem cell-derived cardiomyocytes (CMs) have great potential in the development of new therapies for cardiovascular disease. In particular, human induced pluripotent cells (iPSCs) may prove especially advantageous due to their pluripotency, self-renewal potential, and ability create patient-specific cell lines. Unfortunately, CMs are immature, with characteristics more closely resembling fetal than adult CMs, this immaturity has limited use drug screening cell-based therapies....
Significance Cell contact guidance in aligned fibers is, many ways, a final frontier directed cell migration. Despite its ubiquitous importance normal/pathological processes, notably metastasis from solid tumors, and scaffold design for tissue engineering/regenerative medicine, the signal that induces an fiber network has defied elucidation. We report definitive demonstration of biophysical sensed by fibroblasts cultured within fibrils: mechanical resistance anisotropy, resulting viscous...
The normal cardiac cycle is associated with dynamic changes in left ventricular shape, which can be disturbed disease states. To assess the influences of diastolic volume, percent ejected and abnormalities acute or chronic systolic loading on general detailed chamber geometry, we studied shape change recorded by x-ray contrast ventriculography both patients those aortic (AR) mitral (MR) valve regurgitation. While lesions increased character load throughout ejection differed markedly....
Raman spectroscopy is fast becoming a valuable analytical tool in number of biomedical scenarios, most notably disease diagnostics. Importantly, the technique has also shown increasing promise assessment drug interactions on cellular and subcellular levels, particularly when coupled with multivariate statistical analysis. However, respect to both associated methodologies, an important consideration accuracy these techniques more specifically, sensitivities which can be achieved, ultimately...
Autosomal dominant long QT syndrome (LQT) is an inherited disorder that causes syncope and sudden death from cardiac arrhythmias. In genetic linkage studies of seven unrelated families we mapped a gene for LQT to the short arm chromosome 11 (11p15.5), near Harvey ras-1 (H ras-1). To determine if same locus was responsible in additional families, performed with DNA markers this region MUC2). Pairwise analyses resulted logarithm odds scores -2.64 -5.54 kindreds 1977 1756, respectively. exclude...
Raman spectroscopy with the aid of Multivariate Analysis techniques is a powerful analytical tool to determine localisation nanoparticles and their local environment within subcellular organelles.
Spectral cross-correlation is introduced as a methodology to identify the presence and subcellular distribution of nanoparticles in cells. Raman microscopy employed spectroscopically image biological cells previously exposed polystyrene nanoparticles, model for study nano–bio interactions. The limitations deployed strategies K-means clustering analysis principal component are discussed novel spectral compared with performance classical least squares analysis, both unsupervised supervised...