A5042651482- Muscle Physiology and Disorders
- RNA Research and Splicing
- RNA and protein synthesis mechanisms
- RNA modifications and cancer
- Genomics and Phylogenetic Studies
- Smoking Behavior and Cessation
- Nicotinic Acetylcholine Receptors Study
- Genetic Neurodegenerative Diseases
- Adipose Tissue and Metabolism
- Cardiomyopathy and Myosin Studies
- Bacterial Genetics and Biotechnology
- Neurogenetic and Muscular Disorders Research
- Genetic Associations and Epidemiology
- Bacteriophages and microbial interactions
- Insect symbiosis and bacterial influences
- CRISPR and Genetic Engineering
- Neurofibromatosis and Schwannoma Cases
- Nuclear Structure and Function
- Tissue Engineering and Regenerative Medicine
- Microfluidic and Bio-sensing Technologies
- Microfluidic and Capillary Electrophoresis Applications
- Biotin and Related Studies
- Gut microbiota and health
- Cellular Mechanics and Interactions
- Autism Spectrum Disorder Research
University of Utah
2015-2024
University of Iowa
2022-2024
Nationwide Children's Hospital
2009-2021
Virginia Commonwealth University
2021
IRCCS Ospedale San Raffaele
2021
The Ohio State University Wexner Medical Center
2021
Gillette Children's Specialty Healthcare
2019
Missouri College
2015
Brigham and Women's Hospital
2014
Harvard University
2014
Abstract Objective: Creatine kinase (CK) levels are increased on dried blood spots in newborns related to the birthing process. As a marker for newborn screening, CK Duchenne muscular dystrophy (DMD) results false‐positive testing. In this report, we introduce 2‐tier system using spot first assess with follow‐up DMD gene Methods: A fluorometric assay based upon enzymatic transphosphorylation of adenosine diphosphate triphosphate was used measure activity. Preliminary studies established...
Abstract The foraging ecology of mammalian herbivores is strongly shaped by plant secondary compounds ( PSC s) that defend plants against herbivory. Conventional wisdom holds gut microbes facilitate the ingestion toxic plants; however, this notion lacks empirical evidence. We investigated microbiota desert woodrats Neotoma lepida ), some populations which specialise on highly creosote bush Larrea tridentata) . Here, we demonstrate are crucial in allowing to consume plants. Creosote toxins...
Mutations in the DMD gene, encoding dystrophin protein, are responsible for dystrophinopathies Duchenne Muscular Dystrophy (DMD), Becker (BMD), and X-linked Dilated Cardiomyopathy (XLDC). Mutation analysis has traditionally been challenging, due to large gene size (79 exons over 2.2 Mb of genomic DNA). We report a very aggregate data set comprised mutations detected samples from patients enrolled United Dystrophinopathy Project, multicenter research consortium, referral submitted mutation...
Symbiotic associations between animals and microbes are ubiquitous in nature, with an estimated 15% of all insect species harboring intracellular bacterial symbionts. Most symbionts share many genomic features including small genomes, nucleotide composition bias, high coding density, a paucity mobile DNA, consistent long-term host association. In this study, we focus on the early stages genome degeneration recently derived insect-bacterial mutualistic We present complete sequence annotation...
To determine whether the genetic prevalence of CTG expansion in DMPK gene associated with myotonic dystrophy type 1 (DM1) an unbiased cohort is higher than previously reported population estimates, ranging from 5 to 20 per 100,000 individuals.This study used a cross-sectional deidentified dried blood spots newborn screening program state New York, taken consecutive births 2013 2014. Blood were screened for repeat using triplet-repeat primed PCR and melt curve analysis. Melt morphology was...
People who begin daily smoking at an early age are greater risk of long-term nicotine addiction. We tested the hypothesis that associations between nicotinic acetylcholine receptor (nAChR) genetic variants and dependence assessed in adulthood will be stronger among smokers began exposure during adolescence. compared addiction-measured by Fagerstrom Test Nicotine Dependence-in three cohorts recruited Utah, Wisconsin, NHLBI Lung Health Study, using a candidate-gene approach with neuronal nAChR...
Frameshift mutations frequently express residual levels of gene activity; that is, they are often leaky. This leakiness can be used as a tool to define the functional components affect reading frame during expression (Atkins et al. 1972; Fox and Weiss-Brummer 1980; Weiss Gallant 1983). Recent technological advances in capability efficiently build synthetic DNA sequences have facilitated construction small, defined "frameshift windows." These windows regions where frameshift events detected...
CCR5 encodes a cell surface chemokine receptor molecule that serves as the principal coreceptor, with CD4, for HIV-type 1 (HIV-1). Varied HIV-1 susceptibility and time to progression AIDS have been associated polymorphisms in . Many of these are located 5′ cis -regulatory region , suggesting it may target natural selection. We characterized sequence variation this 400 chromosomes from worldwide populations compared genome-wide analysis 100 Alu typed same populations. Variation was...
Duchenne muscular dystrophy (DMD) displays a clinical range that is not fully explained by the primary DMD mutations. Ltbp4, encoding latent transforming growth factor-β binding protein 4, was previously discovered in genome-wide scan as modifier of murine dystrophy. We sought to determine whether LTBP4 genotype influenced severity large patient cohort.
A 50-nucleotide untranslated region is shown to be present within the coding sequence of Escherichia coli bacteriophage T4 gene 60, which encodes one subunits for its type II DNA topoisomerase. This interruption part transcribed messenger RNA and appears not removed before translation. Thus, usual colinearity between encoded protein apparently does exist in this case. The bracketed by a direct repeat five base pairs. mechanism proposed folding brings together codons separated so that...
Background— Becker muscular dystrophy (BMD) and X-linked dilated cardiomyopathy often result from deletion mutations in the dystrophin gene that may lead to expression of an altered protein cardiac muscle. Cardiac involvement is present ≈70% BMD all cases. To date, timing development remains unpredictable. We analyzed 78 patients with common predicted alter correlated their age onset. This approach was chosen connect structure function heart. Methods Results— Detailed information collected...
Despite extensive study, little is known about the origins of mutualistic bacterial endosymbionts that inhabit approximately 10% world's insects. In this we characterized a novel opportunistic human pathogen, designated “strain HS,” and found it close relative insect endosymbiont Sodalis glossinidius. Our results indicate ancestral relatives strain HS have served as progenitors for independent descent Sodalis-allied in several hosts. Comparative analyses gene inventories were independently...