A5044300649- Genetics and Physical Performance
- Sports Performance and Training
- Adipose Tissue and Metabolism
- Muscle Physiology and Disorders
- Muscle metabolism and nutrition
- Genetic Associations and Epidemiology
- Exercise and Physiological Responses
- Molecular Biology Techniques and Applications
- Children's Physical and Motor Development
- Nutrition, Genetics, and Disease
- Cardiovascular Effects of Exercise
- Adipokines, Inflammation, and Metabolic Diseases
- RNA and protein synthesis mechanisms
- Microfluidic and Capillary Electrophoresis Applications
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Regulation of Appetite and Obesity
- Cardiovascular and exercise physiology
- Neural and Behavioral Psychology Studies
- Diabetes Treatment and Management
- RNA modifications and cancer
- PI3K/AKT/mTOR signaling in cancer
- Pancreatic function and diabetes
- RNA Research and Splicing
- Peroxisome Proliferator-Activated Receptors
Children's National
2011-2020
University of Central Florida
2006-2016
University of New England
2015-2016
University of Michigan–Ann Arbor
2009-2016
University of Connecticut
2006-2016
Florida Atlantic University
2006-2016
Baylor University
2015
UConn Health
2015
Dublin City University
2006-2015
George Washington University
2010-2015
Glycated hemoglobin (HbA₁(c)), used to monitor and diagnose diabetes, is influenced by average glycemia over a 2- 3-month period. Genetic factors affecting expression, turnover, abnormal glycation of could also be associated with increased levels HbA₁(c). We aimed identify such genetic investigate the extent which they influence diabetes classification based on HbA₁(c) levels.We studied associations in up 46,368 nondiabetic adults European descent from 23 genome-wide association studies...
The alpha-actinin 3 (ACTN3) gene encodes a protein of the Z disk myofibers, and polymorphism ACTN3 results in complete loss protein. genotype (R577X) has been found to be associated with performance Australian elite athletes (Yang N, MacArthur DG, Gulbin JP, Hahn AG, Beggs AH, Easteal S, North K. Am J Hum Genet 73: 627-631, 2003). We studied associations between muscle size [cross-sectional area biceps brachii via magnetic resonance imaging (MRI)] elbow flexor isometric (MVC) dynamic...
<i>Background:</i> Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the X-linked methyl CpG binding protein 2 (<i>MeCP2</i>) gene. <i>Methods:</i> One hundred sixteen patients with classical and atypical RTT were studied for of <i>MeCP2</i> gene using DHPLC direct sequencing. <i>Results:</i>Causative identified 63% patients, representing total 30 different mutations. Mutations 72% one third cases (8 25). The authors found 17 novel mutations, including complex...
Strenuous exercise results in damage to skeletal muscle that is manifested delayed pain, prolonged strength loss, and increases proteins the blood, especially creatine kinase (CK) myoglobin (Mb). Some individuals experience profound changes these variables response standard laboratory or recreational activities. We proposed variations genes coding for two myofibrillar [alpha-actinin 3 (ACTN3) myosin light chain (MLCK)] may explain large variability muscle-damaging exercise. hypothesized...
Duchenne muscular dystrophy (DMD) is the most common single-gene lethal disorder. Substantial patient-patient variability in disease onset and progression response to glucocorticoids seen, suggesting genetic or environmental modifiers.Two DMD cohorts were used as test validation groups define modifiers: a Padova longitudinal cohort (n = 106) Cooperative International Neuromuscular Research Group (CINRG) cross-sectional natural history 156). Single nucleotide polymorphisms be genotyped...
Here we report whole exome sequencing (WES) on a cohort of 71 patients with persistently unresolved white matter abnormalities suspected diagnosis leukodystrophy or genetic leukoencephalopathy. WES analyses were performed trio, greater, family groups. Diagnostic pathogenic variants identified in 35% (25 71) patients. Potentially clinically relevant genes further 7% (5 cases, giving total yield clinical diagnoses 42% individuals. These findings provide evidence that can substantially decrease...
Epigenomic regulation of the transcriptome by DNA methylation and posttranscriptional gene silencing miRNAs are potential environmental modulators skeletal muscle plasticity to chronic exercise in healthy diseased populations. We utilized networks connect exercise-induced differential miRNA with functional plasticity. Biopsies vastus lateralis were collected from middle-aged Polynesian men women morbid obesity (44 kg/m 2 ± 10) Type diabetes before following 16 wk resistance ( n = 9) or...
Abstract Background Micro RNA s (mi s) are noncoding molecules that play important roles in the pathogenesis of various kidney diseases. We investigated whether patients with minimal change disease ( MCD ) and focal segmental glomerulosclerosis FSGS have distinct circulating urinary mi expression profiles could lead to potential development noninvasive biomarkers disease. Materials methods Exosome were extracted from plasma urine samples primary n = 16) or 5) healthy controls 5). Differences...
The feasibility of implementing genome sequencing as an adjunct to traditional newborn screening (NBS) in newborns different racial and ethnic groups is not well understood.
Recently, resistin was found to be present in atherosclerotic lesions apoE(-/-) mice. Resistin may associated with inflammation and atherosclerosis humans; however, the role of human disease remains controversial.This study assesses cross-sectional relationships coronary heart (CHD).Blood samples from third examination Strong Heart Study (SHS)--the largest CHD American Indians--were used. Cases who had suffered previous myocardial infarction (n = 100) were selected randomly three SHS sites...
Age-related macular degeneration (AMD) is characterized by progressive loss of central vision, which attributed to abnormal accumulation deposits called "drusen" at the interface between basal surface retinal pigment epithelium (RPE) and Bruch's membrane. In most severe cases, drusen are accompanied growth new blood vessels that breach RPE layer invade photoreceptors. this study, we hypothesized secreted proteins responsible for formation choroidal neovascularization. We used stable isotope...
Purpose: To examine associations among the angiotensin I-converting enzyme (ACE) insertion (I)/deletion (D) polymorphism and response to a 12-wk (2 d·wk−1) unilateral, upper-arm resistance training (RT) program in trained (T, nondominant) untrained (UT, dominant) arms. Methods: Subjects were 631 (mean ± SEM, 24.2 0.2 yr) white (80%) men (42%) women (58%). The ACE ID genotype was Hardy-Weinberg equilibrium with frequencies of 23.1, 46.1, 30.8% for II, ID, DD, respectively (χ2 = 1.688, P...