A5051430483- Cardiac electrophysiology and arrhythmias
- Ion channel regulation and function
- Muscle Physiology and Disorders
- Cardiovascular Effects of Exercise
- Erythrocyte Function and Pathophysiology
- CRISPR and Genetic Engineering
- Sports injuries and prevention
- Atrial Fibrillation Management and Outcomes
- Signaling Pathways in Disease
- Tissue Engineering and Regenerative Medicine
- Cardiac pacing and defibrillation studies
- Gastrointestinal motility and disorders
- Virus-based gene therapy research
- Pancreatic function and diabetes
- Bone health and treatments
- Cardiomyopathy and Myosin Studies
- Bone Metabolism and Diseases
- Adipose Tissue and Metabolism
- Blood properties and coagulation
- Acute Myocardial Infarction Research
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Protein Tyrosine Phosphatases
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Connexins and lens biology
- Electrochemical sensors and biosensors
The Ohio State University
2017-2024
The Ohio State University Wexner Medical Center
2015-2024
Nationwide Children's Hospital
2022
Augusta University
2011-2017
Cancer Genetics (United States)
2017
Georgia Regents Medical Center
2014-2015
Duchenne muscular dystrophy (DMD) is a degenerative muscle disease caused by genetic mutations that lead to the disruption of dystrophin in fibers. There no curative treatment for this devastating disease. Clustered regularly interspaced short palindromic repeat/Cas9 (CRISPR/Cas9) has emerged as powerful tool manipulation and potential therapy. Here we demonstrate CRIPSR-mediated genome editing efficiently excised 23-kb genomic region on X-chromosome covering mutant exon 23 mouse model DMD,...
Rationale: Duchenne muscular dystrophy is a severe inherited form of caused by mutations in the reading frame dystrophin gene disrupting its protein expression. Dystrophic cardiomyopathy leading cause death patients, and currently no effective treatment exists to halt progression. Recent advancement genome editing technologies offers promising therapeutic approach restoring However, impact this on cardiac function has yet be evaluated. Therefore, we assessed efficacy CRISPR (clustered...
Age-dependent bone loss occurs in humans and several animal species, including rodents. The underlying causal mechanisms are probably multifactorial, although an age-associated increase the generation of reactive oxygen species has been frequently implicated. We previously reported that aromatic amino acids function as antioxidants, anabolic for bone, they may potentially play a protective role aging environment. hypothesized upon oxidation would not only lose their effects but also become...
Arrhythmogenic cardiomyopathy (ACM) is an inherited arrhythmia syndrome characterized by severe structural and electrical cardiac phenotypes, including myocardial fibrofatty replacement sudden death. Clinical management of ACM largely palliative, owing to absence therapies that target its underlying pathophysiology, which stems partially from our limited insight into the condition. Following identification deceased probands possessing ANK2 rare variants evidence ankyrin-B loss function on...
Anoctamin 5 (ANO5) is a member of conserved gene family (TMEM16), which codes for proteins predicted to have eight transmembrane domains and putative Ca(2+)-activated chloride channel (CaCC) activity. It was recently reported that mutations in this result the development limb girdle muscular dystrophy type 2L (LGMD2L), Miyoshi myopathy 3 (MMD3), or gnathodiaphyseal dysplasia 1 (GDD1). Currently, there lack animal models study physiological function Ano5 disease pathology its absence. Here,...
Voltage-gated Na
We had shown that aromatic amino acid (phenylalanine, tyrosine, and tryptophan) supplementation prevented bone loss in an aging C57BL/6 mice model. In vivo results from the markers of breakdown suggested inhibition osteoclastic activity or differentiation. To assess differentiation, we examined effects acids on early /structural as vitronectin receptor, calcitonin carbonic anhydrase II well as, late/functional differentiation markers; cathepsin K matrix metalloproteinase 9 (MMP-9). Our data...
This study was designed to evaluate the roles of microRNAs (miRNAs) in slow transit constipation (STC).All human tissue samples were from muscularis externa colon. Expression 372 miRNAs examined a discovery cohort four patients with STC versus three age/sex-matched controls by quantitative PCR array. Upregulated reverse transcription qPCR (RT-qPCR) validation seven and controls. The effect highly differentially expressed miRNA on custom smooth muscle cell line vitro RT-qPCR,...
Rationale: Coronary artery disease (CAD) is a pervasive and critical health care problem. Elevated high-density lipoprotein-associated cholesterol (HDL-C) associated with improved atherosclerotic cardiovascular outcomes on population level, but clinical trials aimed at HDL-C elevation have not succeeded in improving event risk. Nevertheless, human variants the HDL receptor, encoded by SCARB1 , are dyslipidemia, suggesting that metabolism, HDL-C, suitable target for therapy. However, never...
Arrhythmogenic cardiomyopathy (ACM) is an inherited disorder characterized by fibro-fatty infiltration with increased propensity for ventricular arrhythmias and sudden death. Genetic variants in desmosomal genes are associated ACM. Incomplete penetrance a common feature ACM families, complicating the understanding of how external stressors contribute towards disease development. To analyze dual role genetics on progression, we developed one first mouse models that recapitulates human variant...
The physiologic oxygen pressures inside the bone marrow environment are much lower than what is present in peripheral circulation, ranging from 1–7%, compared to values as high 10–13% arteries, lungs and liver. Thus, experiments done with mesenchymal stem cells (BMMSCs) using standard culture conditions may not accurately reflect true hypoxic microenvironment. However, since aging associated an increased generation of reactive species, under 21%O2 actually more closely resemble that...
Cardiovascular disease (CVD) remains the most common cause of adult morbidity and mortality in developed nations. As a result, predisposition for CVD is increasingly important to understand. Ankyrins are intracellular proteins required maintenance membrane domains. Canonical ankyrin-G (AnkG) has been shown be vital normal cardiac function, specifically excitability, via targeting regulation voltage-gated sodium channel. Noncanonical (giant) AnkG isoforms play key role neuronal biogenesis...