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Full-Text Articles in Medicine and Health Sciences

Mosaicism For Trisomy21: Utility Of Array-Based Technology For Its Detection And Its Influence On Telomere Length And The Frequency Of Acquired Chromosome Abnormalities, Chariyawan Charalsawadi Aug 2011

Mosaicism For Trisomy21: Utility Of Array-Based Technology For Its Detection And Its Influence On Telomere Length And The Frequency Of Acquired Chromosome Abnormalities, Chariyawan Charalsawadi

Theses and Dissertations

The primary aim of this study was to determine the effectiveness of array-based technology for detecting and quantifying the presence of mosaicism. This aim was achieved by studying individuals having mosaicism for Down syndrome. SNP arrays were performed on 13 samples from individuals with mosaicism for trisomy 21, 13 samples from individuals with normal chromosome 21complements (negative controls) and 5 samples from individuals with full or partial trisomy 21 (positive controls). In addition, BAC arrays were processed on 6 samples from individuals with mosaicism for trisomy 21, 3 negative controls and 1 positive control. These studies have shown that array-based …


Creation Of Multilinage Adult Stem-Like Cells From Terminally Differentiatied Fibroblasts, John Moore Jul 2011

Creation Of Multilinage Adult Stem-Like Cells From Terminally Differentiatied Fibroblasts, John Moore

Theses and Dissertations

Induced Pluripotent Stem cells (iPScs) are artificially generated cells that demonstrate multilineage differentiation potential. These cells demonstrate similar morphology and high differentiation potential to Embryonic Stem Cells (ESCs). Generation of these cells from a terminally differentiated cell line requires activation of the core pluripotency genes Nanog, Oct4, and Sox2 as well as an oncogenic stimulus such as c-Myc. Here we examine the effect of the Human Pappiloma Virus derived proteins E6 and E7 on the ability of a terminally differentiated fibroblast cell line to a more primitive state and examine its multilineage differentiation capacity. In this paper, we attempt to …


A Review Of Common And Rare Genetic Variants In Schizophrenia, Jonathan Luedders Jul 2011

A Review Of Common And Rare Genetic Variants In Schizophrenia, Jonathan Luedders

Theses and Dissertations

Genetic epidemiology has shown a large role for genetic influences on schizophrenia. However, the nature of the variants involved is debated. The common disease-common variant (CDCV) hypothesis suggests that schizophrenia is caused by common alleles with small effect sizes. According to the common disease-rare variant (CDRV) hypothesis, schizophrenia is caused by rare variants with large effect sizes. In recent years, evidence has been found for both common and rare variants in schizophrenia. Several SNPs have been associated with schizophrenia through genome-wide association studies (GWAS), supporting the CDCV hypothesis. In support of the CDRV hypothesis, individuals with schizophrenia have been found …


Expression Profiling And Functional Validation Of Micrornas Involved In Schizophrenia And Bipolar Disorder, Albert H. Kim Jul 2011

Expression Profiling And Functional Validation Of Micrornas Involved In Schizophrenia And Bipolar Disorder, Albert H. Kim

Theses and Dissertations

MicroRNAs (miRNAs) are a family of small non-coding RNAs that regulate gene expression at both the mRNA and protein levels. MiRNAs have been shown to affect neuronal differentiation, synaptosomal complex localization and synapse plasticity, all functions thought to be disrupted in schizophrenia. We investigated the expression of 667 miRNAs (miRBase v.13) in the prefrontal cortex of individuals with schizophrenia (SZ, N = 35) and bipolar disorder (BP, N =35) using a real-time PCR-based Taqman Low Density Array (TLDA). After extensive QC steps, 441 miRNAs were included in the final analyses. At a FDR of 10%, 22 miRNAs were identified as …


Racial Differences In The Genetics Of Preeclampsia, Lori Hill Jul 2011

Racial Differences In The Genetics Of Preeclampsia, Lori Hill

Theses and Dissertations

Preeclampsia (PE), characterized by hypertension and proteinuria after 20 weeks of gestation, affects 5-8% of pregnancies worldwide. Although preeclampsia is a significant cause of maternal and perinatal mortality and morbidity, its etiology remains to be elucidated. Racial differences have been observed for preeclampsia, with U.S. Blacks having higher rates and more severe disease, compared to U.S. Whites and Hispanics. One potential source of racial differences in preeclampsia is genetic variation between populations. Genetic susceptibility to preeclampsia is well established, but the specific contributions of maternal vs. fetal genes, and how these vary among racial groups is poorly understood. This dissertation …


Heat Shock Proteins As Novel Cancer Therapeutics: Targeting The Hallmarks Of Cancer, Chao Li Jun 2011

Heat Shock Proteins As Novel Cancer Therapeutics: Targeting The Hallmarks Of Cancer, Chao Li

Theses and Dissertations

Molecular chaperones, commonly known as heat shock proteins (HSPs), are essential for mammalian cells to maintain homeostasis, and HSPs function by inducing an ATPase-coupled structural change, followed by interactions with diverse co-chaperones and over 200 client proteins implicated in many critical signaling networks. These highly expressed HSPs participate in the onset and progression of several human diseases including cancer, and their connection with tumorigenesis has facilitated research and clinical trials related to targeting HSPs as a novel anti-tumor therapy. The predominant mechanism of chaperone inhibition is through either disruption of the HSP association with client protein or an altered binding …


The Natural Polyphenol Resveratrol Potentiates The Lethality Of Hdac Inhibitors In Acute Myelogenous Leukemia Cells Through Multiple Mechanisms., Alae Abod Yaseen May 2011

The Natural Polyphenol Resveratrol Potentiates The Lethality Of Hdac Inhibitors In Acute Myelogenous Leukemia Cells Through Multiple Mechanisms., Alae Abod Yaseen

Theses and Dissertations

This study examined the mechanisms underlying the interactions between the natural polyphenol Resveratrol and HDAC inhibitors in both U937 myelomonocytic leukemia cell line and blood samples from AML patients and normal cord blood. Simultaneous exposure to Resveratrol and HDAC inhibitors (Vorinostat-SAHA or Panobinostat-LBH589) resulted in potentiating the lethality caused by any single agent of the combination, this interaction found to be synergistic at multiple concentrations. Exposing U937 cells to minimal toxic doses of Resveratrol and HDACIs results in release of mitochondrial pro-apoptotic proteins AIF and cytochrome c, pro-apoptotic caspase activation especially caspase-8, and induction of DNA damage. These events were …


Pediatrician Perceptions Of The Patient-Centered Medical Home Model, Christopher Ray Jan 2011

Pediatrician Perceptions Of The Patient-Centered Medical Home Model, Christopher Ray

Theses and Dissertations

The Patient-Centered Medical Home (PCMH) is an emerging model of health care designed to provide a simpler, more effective health care experience. The model places heavy emphasis on the concept of every patient having a "personal physician" who is the point of access for all health care needs and concerns. The personal physician integrates all relevant health care information to provide the patient with a holistic picture of his health. The supposed benefits of the PCMH model include an improved patient experience, increased effectiveness of care, increased efficiency of care, greater access to care, among others. Only now is evidence …


Approaches For Enhancing Therapeutic Efficacy Of A Novel Il-10 Gene Family Member: Mda-7/Il-24, Belal Azab Jan 2011

Approaches For Enhancing Therapeutic Efficacy Of A Novel Il-10 Gene Family Member: Mda-7/Il-24, Belal Azab

Theses and Dissertations

Melanoma differentiation associated gene-7 (mda-7) was discovered in the Fisher laboratory by subtraction hybridization of temporally spaced subtracted cDNA libraries prepared from terminally differentiated human melanoma cells treated with human fibroblast interferon (IFN-β) and the protein kinase C activator mezerein (MEZ), an approach called ‘differentiation induction subtraction hybridization’ (DISH). mda-7 is located in human chromosome 1q32–33 and based on sequence homology, chromosomal localization, and its functional properties, the mda-7 gene is now classified as a member of the IL-10 family of cytokines and named IL-24. The mda-7/IL-24 cDNA encodes a protein of 206-amino acids with a predicted size of ~24-kDa, …