A5045252530- Genetic diversity and population structure
- Cancer Genomics and Diagnostics
- Plant Diversity and Evolution
- Plant and Biological Electrophysiology Studies
- Genomics and Phylogenetic Studies
- Acute Myeloid Leukemia Research
- Acute Lymphoblastic Leukemia research
- Breast Cancer Treatment Studies
- Hematopoietic Stem Cell Transplantation
- Sunflower and Safflower Cultivation
- Optical Imaging and Spectroscopy Techniques
- Genetic and Environmental Crop Studies
- Plant Pathogens and Resistance
- Genetic Mapping and Diversity in Plants and Animals
- Botany, Ecology, and Taxonomy Studies
- Traumatic Brain Injury and Neurovascular Disturbances
- Advanced MRI Techniques and Applications
- Botanical Research and Chemistry
- Genetics, Aging, and Longevity in Model Organisms
- Periodontal Regeneration and Treatments
- Cancer Immunotherapy and Biomarkers
- Vascular Malformations and Hemangiomas
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- CRISPR and Genetic Engineering
- Chromatin Remodeling and Cancer
Nationwide Children's Hospital
2018-2024
Thermo Fisher Scientific (United States)
2023
St. Jude Children's Research Hospital
2023
Mississippi State University
2012-2021
The Ohio State University
2015-2018
St. Luke's-Roosevelt Hospital Center
2010
Abstract The AURORA US Metastasis Project was established with the goal to identify molecular features associated metastasis. We assayed 55 females metastatic breast cancer (51 primary cancers and 102 metastases) by RNA sequencing, tumor/germline DNA exome low-pass whole-genome sequencing global methylation microarrays. Expression subtype changes were observed in ~30% of samples coincident clonality shifts, especially involving HER2. Downregulation estrogen receptor (ER)-mediated cell–cell...
Survival of patients with acute myeloid leukemia (AML) is inversely associated age, but the impact race on outcomes adolescent and young adult (AYA; range, 18-39 years) unknown. We compared survival 89 non-Hispanic Black 566 White AYA AML treated frontline Cancer Leukemia Group B/Alliance for Clinical Trials in Oncology protocols. Samples 327 (50 277 White) were analyzed via targeted sequencing. Integrated genomic profiling was performed select longitudinal samples. had worse outcomes,...
Gastroblastomas are rare tumors with a biphasic epithelioid/spindle cell morphology that typically present in early adulthood and have recurrent MALAT1-GLI1 fusions. We describe an adolescent patient Wiskott-Aldrich syndrome who presented large submucosal gastric tumor morphology. Despite histologic features consistent gastroblastoma, fusion was not found this patient's tumor; instead, comprehensive molecular profiling identified novel EWSR1-CTBP1 no other significant genetic alterations....
Duchenne muscular dystrophy is an X-linked disorder typically caused by out-of-frame mutations in the
The California Channel Islands are a group of eight oceanic islands located off the coast southern that substantially closer to mainland than most other well-studied island systems. equilibrium theory biogeography proposed by MacArthur and Wilson posits species diversity on an will be positively impacted area negatively isolation, which has been confirmed for Islands. In this study, we have extended Wilson's examine how levels genetic relate four characteristics (island area, distance...
Bayesian inference operates under the assumption that empirical data are a good statistical fit to analytical model, but this can be challenging evaluate. Here, we introduce novel r package utilizes posterior predictive simulation evaluate of multispecies coalescent model used estimate species trees. We conduct study consistency different summary statistics in comparing and distributions, use replication reducing error rates utility parallel process invocation towards improving computation...
Abstract Microsatellites are common in genomes of most eukaryotic species. Due to their high mutability, an adaptive role for microsatellites has been considered. However, little is known concerning the contribution towards phenotypic variation. We used populations sunflower ( Helianthus annuus ) at two latitudes quantify effect microsatellite allele length on phenotype level gene expression. conducted a garden experiment with seed collected from Kansas and Oklahoma followed by RNA‐Seq 95...
Mutations that provide environment-dependent selective advantages drive adaptive divergence among species. Many phenotypic differences related species are more likely to result from gene expression rather than non-synonymous mutations. In this regard, cis-regulatory mutations play an important part in generating functionally significant variation. Some proposed mechanisms explore the role of involve microsatellites. Microsatellites exhibit high mutation rates achieved through symmetric or...
Abstract The mechanisms by which natural populations generate adaptive genetic variation are not well understood. Some studies propose that microsatellites can function as drivers of variation. Here, we tested a potentially role for transcribed with the common sunflower ( Helianthus annuus L.) assessing enrichment in genes show expression divergence across latitudes. Seeds collected from six at two distinct latitudes Kansas and Oklahoma were planted grown garden. Morphological measurements...
Carnivorous plants are striking examples of evolutionary convergence, displaying complex and often highly similar adaptations despite lack shared ancestry. Using available carnivorous plant genomes along with non-carnivorous reference taxa, this study examines the convergence functional overrepresentation genes previously implicated in carnivory. Gene Ontology (GO) coding was used to quantitatively score representation these terms proportion carnivory-associated functions relative all...
Rhabdoid tumors (RTs) of the brain (atypical teratoid/rhabdoid tumor; AT/RT) and extracranial sites (most often kidney; RTK) are malignant predominantly occurring in children, frequently those with SMARCB1 germline alterations. Here we present data from seven RTs three pediatric patients who all had multi-organ involvement. The were analyzed using a multimodal molecular approach, which included exome sequencing tumor comparator RNA DNA array-based methylation profiling tumors. alterations...
• Premise of the study: To estimate genetic structure, chloroplast loci containing length‐variable regions were developed for two legumes, Acmispon argophyllus and A. dendroideus . Methods Results: Primers 14 repeat from genome sequence legume Lotus japonicus tested in Nine exhibited polymorphism , with up to six alleles per locus. Gene diversity ranged 0 0.775 0.142 0.766 The primers also amplified other species. Sequencing fragments revealed discordance between fragment sizes underlying...
Taxa inhabiting the California Channel Islands exhibit variation in their degree of isolation, but few studies have considered patterns across entire archipelago. We studied phylogeography insular Acmispon argophyllus and A. dendroideus to determine whether infraspecific taxa are genetically divergent elucidate diversification these islands.DNA sequences were collected from nuclear (ADH) plastid genomes (rpL16, ndhA, psbD-trnT) >450 samples on California. estimated population genetic...
Oxygen Extraction Fraction (OEF) is a valuable indicator of brain physiology influenced by cognitive impairment and vascular pathology in older adults. Our objective to explore age-related OEF change for cognitively normal (CN) Mild-Cognitive-Impairment (MCI) subjects. In this study, 56 elderly participants were recruited. Individuals with MCI resulted higher compared CN participants, especially the occipital lobe (p=0.007). parietal lobe, we observed an inverse correlation between age...
ABSTRACT Here we describe a neonate exhibiting hypotonia, macrocephaly, renal cysts, and respiratory failure requiring tracheostomy ventilator support. Genetic analysis via rapid genome sequencing (rGS) identified loss on chromosome 4 encompassing polycystin‐2 ( PKD2 ) 22 SH3 Multiple Ankyrin Repeat Domains 3 SHANK3 ), indicative of Phelan‐McDermid syndrome. Further traditional karyotyping, Optical Genome Mapping (OGM), PacBio long‐read revealed more complex landscape chromosomal...
Mutations that provide environment dependent selective advantages drive adaptive divergence among species. Many phenotypic differences related species are more likely to result from gene expression rather than non-synonymous mutations. In this regard, cis-regulatory mutations play an important part in generating functionally significant variation. Some proposed mechanisms explore the role of involve microsatellites. Microsatellites exhibit high mutation rates and abundant both coding...
ABSTRACT Microsatellites are common in most species. While an adaptive role for these highly mutable regions has been considered, little is known concerning their contribution towards phenotypic variation. We used populations of the sunflower ( Helianthus annuus ) at two latitudes to quantify effect microsatellite allele length on phenotype level gene expression. conducted a garden experiment with seed collected from Kansas and Oklahoma followed by RNA-Seq 95 individuals. The expression was...
<title>Abstract</title> Patients with metastatic breast cancer (MBC) typically have short survival times and their successful treatment represents one of most challenging aspects patient care. This poor prognostic behavior is in part due to molecular features including increased tumor cell clonal heterogeneity, multiple drug resistance mechanisms, alterations the microenvironment. The AURORA US Metastasis Project was established goal identify specifically associated metastasis. We therefore...