A5090966761- Genomics and Rare Diseases
- RNA modifications and cancer
- Cancer Genomics and Diagnostics
- Pancreatic function and diabetes
- Congenital heart defects research
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Congenital Heart Disease Studies
- Genomics and Phylogenetic Studies
- Chromatin Remodeling and Cancer
- Diabetes and associated disorders
- RNA and protein synthesis mechanisms
- Epigenetics and DNA Methylation
- RNA Research and Splicing
- Cardiac Valve Diseases and Treatments
- Adipose Tissue and Metabolism
- Traumatic Brain Injury and Neurovascular Disturbances
- Intracranial Aneurysms: Treatment and Complications
- Genomics and Chromatin Dynamics
- Cardiomyopathy and Myosin Studies
- Gut microbiota and health
- Diabetes Management and Research
- Neuroblastoma Research and Treatments
- Bacterial Genetics and Biotechnology
- Biofuel production and bioconversion
Nationwide Children's Hospital
2016-2025
The Ohio State University
2016-2025
Centre for Environment, Fisheries and Aquaculture Science
2013-2022
Rasmussen College
2020-2021
The Ohio State University Wexner Medical Center
2020
Pediatrics and Genetics
2002-2020
John Wiley & Sons (United States)
2018-2019
Ecological Society of America
2019
IFC Research (United Kingdom)
2019
Columbus Center
2018
There is tremendous potential for genome sequencing to improve clinical diagnosis and care once it becomes routinely accessible, but this will require formalizing research methods into best practices in the areas of sequence data generation, analysis, interpretation reporting. The CLARITY Challenge was designed spur convergence diagnosing genetic disease starting from case history data. DNA samples were obtained three families with heritable disorders genomic donated by platform vendors....
'A very useful contribution to the evaluation literature. The authors have attempted (quite successfully) describe, by means of five case studies, how data is utilized and evaluators conduct their evaluations during total process from design implementation final report.' -- Choice, December 1979
The failure to expand functional pancreatic beta-cell mass in response increased metabolic demand is a hallmark of type 2 diabetes. Lineage tracing studies indicate that replication existing beta-cells the principle mechanism for expansion adult mice. Here we demonstrate proliferative dependent on orphan nuclear receptor hepatocyte factor-4alpha (HNF-4alpha), gene mutated Maturity-Onset Diabetes Young 1 (MODY1). Computational analysis microarray expression profiles from isolated islets mice...
The inability of the ss-cell to meet demand for insulin brought about by resistance leads type 2 diabetes. In adults, replication is one mechanisms thought cause expansion mass. Efforts treat diabetes require knowledge pathways that drive facultative proliferation in vivo. A robust physiological stimulus pregnancy and identifying underlying this may provide therapeutic treatment peak during occurs on d 14.5 gestation mice. Using advanced genomic approaches, we globally characterize gene...
It is crucially important to detect subarachnoid haemorrhage (SAH) in all patients whom it has occurred select for angiography and preventative surgery. A computerized tomography (CT) scan positive up 98% of with SAH presenting within 12 h, but only 50% those one week. Cerebrospinal fluid (CSF) bilirubin spectrophotometry can be used determine the need few CT-negative clinical suspicion remains high; may remain two weeks after event. lumbar puncture (LP) should performed >12 h onset...
The transcription factor AmrZ regulates genes important for P. aeruginosa virulence, including type IV pili, extracellular polysaccharides, and the flagellum; however, global effect of on gene expression remains unknown, therefore, may directly regulate many additional that are crucial infection. Compared to wild strain, a ΔamrZ mutant exhibits rugose colony phenotype, which is commonly observed in variants accumulate intracellular second messenger cyclic diguanylate (c-di-GMP). Cyclic...
The forkhead box proteins A1 and A2 (Foxa1 Foxa2) are transcription factors with critical roles in establishing the developmental competence of foregut endoderm initiating liver specification. Using conditional gene ablation during a later phase development, we show here that deletion both Foxa1 Foxa2 (Foxa1/2) embryonic caused hyperplasia biliary tree. Abnormal bile duct formation Foxa1/2-deficient was due, at least part, to activation IL-6 expression, proliferative signal for...
While advances in genome sequencing technology make population-scale genomics a possibility, current approaches for analysis of these data rely upon parallelization strategies that have limited scalability, complex implementation and lack reproducibility. Churchill, balanced regional strategy, overcomes challenges, fully automating the multiple steps required to go from raw reads variant discovery. Through novel deterministic techniques, Churchill allows computationally efficient high-depth...
Abstract Objective Epilepsy‐associated developmental lesions, including malformations of cortical development and low‐grade tumors, represent a major cause drug‐resistant seizures requiring surgical intervention in children. Brain‐restricted somatic mosaicism has been implicated the genetic etiology these lesions; however, many contributory genes remain unidentified. Methods We enrolled 50 children who were undergoing epilepsy surgery into translational research study. Resected tissue was...
The molecular analysis of mammalian cellular proliferation in vivo is limited most organ systems by the low turnover and/or asynchronous nature cell cycle progression. A notable exception partial hepatectomy model, which quiescent hepatocytes reenter and progress a synchronous fashion. Here we have exploited this model to identify regulatory networks operative cycle. We performed microarray-based expression profiling on livers 0-40 h post-hepatectomy corresponding G0, G1, S phases....
ChIP-Seq technology, which combines chromatin immunoprecipitation (ChIP) with massively parallel sequencing, is rapidly replacing ChIP-on-chip for the genome-wide identification of transcription factor binding events. Identifying bound regions from large number sequence tags produced by a challenging task. Here, we present GLITR (GLobal Identifier Target Regions), accurately identifies enriched in target data calculating fold-change based on random samples control (input chromatin) data....
The homeobox transcription factor Pdx-1 is necessary for pancreas organogenesis and beta cell function, however, most Pdx-1-regulated genes are unknown. To further the understanding of in biology, we have characterized its genomic targets NIT-1 cells, a mouse insulinoma line. identify novel targets, developed microarray that includes traditional promoters as well non-coding conserved elements, micro-RNAs, elements identified through an unbiased approach termed serial analysis chromatin...
Dogs anesthetized with pentobarbital were shown to produce carbon monoxide at an average rate of 0.21 +/- (SD) 0.05 ml per hour. After intravenous injection erythrocytes damaged by incubation N-ethylmaleimide, CO was produced in excess base-line production for 3 4 hours yield 0.89 (SE) 0.046 mumole 1 heme degraded. N-ethylmaleimide (NEM)-treated containing hemoglobin labeled (14)carbon, (14)CO produced. Its specific activity approximately one-eighth that the injected heme. It also after...
Elongation factor P (EF-P) is required for the efficient synthesis of proteins with stretches consecutive prolines and other motifs that would otherwise lead to ribosome pausing. However, previous reports also demonstrated levels most diprolyl-containing are not altered by deletion efp. To define particular sequences trigger stalling at diprolyl (PPX) motifs, we used profiling monitor global occupancy in Escherichia coli strains lacking EF-P. Only 2.8% PPX caused significant ribosomal...
Congenital heart disease (CHD) is the most common type of birth defect with family- and population-based studies supporting a strong genetic cause for CHD. The goal this study was to determine whether whole exome sequencing (WES) approach could identify pathogenic-segregating variants in multiplex CHD families.WES performed on 9 kindreds familial CHD, 4 atrial septal defects, 2 patent ductus arteriosus, tetralogy Fallot, 1 pulmonary valve dysplasia. Rare (<1% minor allele frequency) that...
Salmonella enterica serovar Typhimurium (Salmonella) is one of the most significant food-borne pathogens affecting both humans and agriculture. We have determined that encodes an uptake utilization pathway specific for a novel nutrient, fructose-asparagine (F-Asn), which essential fitness in inflamed intestine (modeled using germ-free, streptomycin-treated, ex-germ-free with human microbiota, IL10−/− mice). The locus encoding F-Asn utilization, fra, provides advantage only if can initiate...