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Full-Text Articles in Diseases

Genetic And Epigenetic Mechanisms Of Complex Reproductive Disorders, Bhavi P. Modi Jan 2016

Genetic And Epigenetic Mechanisms Of Complex Reproductive Disorders, Bhavi P. Modi

Theses and Dissertations

Common, complex disorders are polygenic and multifactorial traits representing interactions between environmental, genetic and epigenetic risk factors. More often than not, contributions of these risk factors have been studied individually and this is especially true for complex reproductive traits where application of genomic technologies has been challenging and slow to progress. This thesis explores the potential of genetic and epigenetic components contributing to a better understanding of the biological pathways underlying disease risk in two specific female complex reproductive traits - polycystic ovary syndrome (PCOS) and preterm premature rupture of membranes (PPROM). The PCOS projects focus on characterization of a …


Obesity And Asthma: Adiponectin Receptor 1 (Adipo R1) And Adiponectin Receptor 2 (Adipo R2) Are Expressed By Normal Human Bronchial Epithelial (Nhbe) Cells At Air-Liquid Interface (Ali) And Expression Changes With Il-13 Stimulation, Jennifer L. Bradley Jan 2016

Obesity And Asthma: Adiponectin Receptor 1 (Adipo R1) And Adiponectin Receptor 2 (Adipo R2) Are Expressed By Normal Human Bronchial Epithelial (Nhbe) Cells At Air-Liquid Interface (Ali) And Expression Changes With Il-13 Stimulation, Jennifer L. Bradley

Theses and Dissertations

Obesity is recognized as an important risk factor for the development of many chronic diseases such as hypertension, Type 2 diabetes mellitus (T2DM) cardiovascular disease, cancer, renal disease, neurologic dysfunction, metabolic syndrome and asthma (3, 4). Circulating serum adiponectin levels in obese asthmatics have been reported to be low. Therefore, we aimed to investigate the role of adiponectin in a mucus hypersecretion model and hypothesized that adiponectin would decrease IL-13 induced MUC5AC expression from differentiated NHBE cells and that increasing concentrations of IL-13 would cause a decrease in Adipo R1 and Adipo R2 expression. MUC5AC expression with exposure to adiponectin …


Probing Allosteric, Partial Inhibition Of Thrombin Using Novel Anticoagulants, Stephen S. Verespy Iii Jan 2016

Probing Allosteric, Partial Inhibition Of Thrombin Using Novel Anticoagulants, Stephen S. Verespy Iii

Theses and Dissertations

Thrombin is the key protease that regulates hemostasis; the delicate balance between procoagulation and anticoagulation of blood. In clotting disorders, like deep vein thrombosis or pulmonary embolism, procoagulation is up-regulated, but propagation of clotting can be inhibited with drugs targeting the proteases involved, like thrombin. Such drugs however, have serious side effects (e.g., excessive bleeding) and some require monitoring during the course of treatment. The reason for these side effects is the mechanism by which the drugs’ act. The two major mechanisms are direct orthosteric and indirect allosteric inhibition, which will completely abolish the protease’s activity. Herein we sought an …


Exploring The Role Of Intersectionality On Cardiovascular Disease Risk In Sexual Minorities, Leia Harper Jan 2016

Exploring The Role Of Intersectionality On Cardiovascular Disease Risk In Sexual Minorities, Leia Harper

Theses and Dissertations

Background: Previous research has shown that sexual minority individuals (SM) are twice as likely to smoke, twice as likely to be overweight or obese, and less likely to be physically active than heterosexual persons; all of which place SMs at an increased risk for cardiovascular disease (CVD). While information on CVD risk by race/ethnicity and socioeconomic status is well documented, there is scant literature examining race, gender, and the potential CVD risk in SMs. The purpose of this study was to examine CVD risk in sexual minorities.

Method: The current study used data from the National Longitudinal Study of Adolescent …


Post-Tbi Hippocampal Neurogenesis In Different Tbi Models, Kaushal S. Patel Jan 2016

Post-Tbi Hippocampal Neurogenesis In Different Tbi Models, Kaushal S. Patel

Theses and Dissertations

Traumatic brain injury (TBI) leads to short-term and long-term consequences that can cause many different life-long disorders. Studies of TBI have generally focused on the acute stage; however, it is now becoming important to investigate chronic responses following TBI as clinical reports of dementia and cognitive impairments have been linked to a history of TBI. Recent data have established that cognitive function is associated with hippocampal neurogenesis. Chronic injury induced changes in the brain may affect this endogenous process. Chronic responses following TBI include cell death pathways and inflammatory responses that are persistent in the brain for months to years …


A Mechanistic Study Of An Ipsc Model For Leigh’S Disease Caused By Mtdna Mutataion (8993 T>G), John P. Galdun Jan 2016

A Mechanistic Study Of An Ipsc Model For Leigh’S Disease Caused By Mtdna Mutataion (8993 T>G), John P. Galdun

Theses and Dissertations

Mitochondrial diseases encompass a broad range of devastating disorders that typically affect tissues with high-energy requirements. These disorders have been difficult to diagnose and research because of the complexity of mitochondrial genetics, and the large variability seen among patient populations. We have devised and carried out a mechanistic study to generate a cell based model for Leigh’s disease caused by mitochondrial DNA mutation 8993 T>G. Leigh’s disease is a multi-organ system disorder that depends heavily on the mutation burden seen within various tissues. Using new reprogramming and sequencing technologies, we were able to show that Leigh’s disease patient fibroblasts …