Now showing items 1-10 of 29
Characterization of microRNA-Protein Interactions and Genome-Scale Screening for Modifiers of LDL Cholesterol Uptake
(2020)
MicroRNAs (miRNAs) are small noncoding RNAs that regulate protein expression via post-transcriptional silencing of target genes. These small RNAs are implicated in the regulation of nearly all biological processes, and ...
3Rs‐friendly approach to exogenous metabolic activation that supports high‐throughput genetic toxicology testing
(John Wiley & Sons, Inc., 2020-04)
MultiFlow® DNA Damage—p53, γH2AX, Phospho‐Histone H3 is a miniaturized, flow cytometry‐based assay that provides genotoxic mode of action information by distinguishing clastogens, aneugens, and nongenotoxicants. Work to ...
Combining sequence data from multiple studies: Impact of analysis strategies on rare variant calling and association results
(Wiley Periodicals, Inc., 2020-01)
Individual sequencing studies often have limited sample sizes and so limited power to detect trait associations with rare variants. A common strategy is to aggregate data from multiple studies. For studying rare variants, ...
The role of environmental exposures and the epigenome in health and disease
(John Wiley & Sons, Inc., 2020-01)
Characterizing and Targeting the Chromatin Determinants of Cancer Cell Identity: Cancer's Addiction to its Originating Cellular Lineage
(2021)
Cancer is a complex disease that is initiated by genetic perturbations in normal cells leading to uncontrollable cellular division. The ensuing tumor mass, at both primary and distant metastatic sites, hinders the normal ...
A Mystery of Muscle: Establishing Mechanisms of Toxicity in Polyglutamine Disease
(2022)
Polyglutamine disorders encompass nine uniformly fatal diseases for which there are no disease course altering therapies. This group of related diseases share a key source: expansion of a CAG microsatellite repeat in genes ...
Molecular Mechanisms of Subcellular Development: Down Syndrome-Related Genetic Interactions and Axon-Dendrite Coordination During Neurodevelopment
(2022)
Mechanisms of dendrite and axon patterning are important in both neurotypical development and neurodevelopmental disorders. This dissertation aimed to address two open questions concerning mechanisms of subcellular ...
Understanding Genetic Factors that Modulate Hedgehog-Driven Skin Cancer
(2022)
The Hedgehog (Hh) signaling pathway is essential for instructing tissues to properly develop during vertebrate embryogenesis. Perturbations that cause constitutive activation of Hh signaling, primarily through loss-of-function ...
Aberrant Epigenetic Patterning Defines an Aggressive Molecular Subtype of Adrenocortical Carcinoma and Exposes a Tissue-Specific Therapeutic Vulnerability
(2023)
The adrenal glands are endocrine organs that produce steroid hormones and catecholamines critical for life. Adrenocortical carcinoma (ACC) is a rare cancer of these glands. Up to 75% of patients with ACC develop metastases, ...
CRISPR/Cas9 Inducible Gene Knockout in Brown Adipose Tissue
(2021)
The ability to study adipose tissue in vivo has centered around the use of transgenic mice, which require significant time, resources, and investment to generate. With nearly 40% of adults in the United States considered ...