Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 20 of 95 for “"Genetics, Medical"”.
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The effects of failures of assumptions on several tests used for genetic analysis
… of the full text, please contact the Ruth Lilly Medical Library's Interlibrary Loan Department (rlmlill@iu.edu).
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The inheritance of retinal blood vessel patterns in man: a twin study
… of the full text, please contact the Ruth Lilly Medical Library's Interlibrary Loan Department (rlmlill@iu.edu).
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Genetic studies in Sanfilippo syndrome, type B
… of the full text, please contact the Ruth Lilly Medical Library's Interlibrary Loan Department (rlmlill@iu.edu).
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The simulation of linkage in human populations
… of the full text, please contact the Ruth Lilly Medical Library's Interlibrary Loan Department (rlmlill@iu.edu).
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Preparing for Personalized Medicine: Improving Genetic Screening Resources for Primary Care Providers
Due to the expansion of genetics testing and the current strain on the genetics services workforce, Primary Care Providers (PCPs) will have to play a growing role in the management of of patients with genetics needs. However, PCPs do not have the knowledge or support to take on this role. This …
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Examining Alcohol Dependence and Its Correlates From A Genetically Informative Perspective
… problem that contributes to great societal, medical, and legal costs. It has taken work from multiple disciplines, including developmental psychology, genetic epidemiology, and molecular genetics, to achieve our current understanding of environmental and genetic risk factors for AD as well as …
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Identifying the Molecular Cause of Extreme Endoplasmic Reticulum Dilation in Pediatric Osteosarcoma and Its Relationship to the Disease
<p>Pediatric osteosarcoma tumors are characterized by an unusual abundance of grossly dilated endoplasmic reticulum and an immense genomic instability that has complicated identifying new effective molecular therapeutic targets. Here we report a novel molecular signature that encompasses the …
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The Roles of Krüppel-Like Factor 1 (KLF1) in the Human Fetal Erythroid Compartment.
<p>Erythroid Krüppel-like factor (EKLF or KLF1) is a transcription factor with roles in embryonic and adult erythropoiesis. KLF1 knockout mouse embryos die due to severe anemia. Dominant human mutations in KLF1 can cause hereditary persistence of fetal hemoglobin. We show that KLF1 positively …
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Anti-apoptotic MCL-1 Localizes to the Mitochondrial Matrix and Couples Mitochondrial Fusion to Respiration
<p>MCL-1, an anti-apoptotic BCL-2 family member that is essential for the survival of multiple cell lineages, is also among the most highly amplified genes in cancer. Although MCL-1 is known to oppose cell death, precisely how it functions to promote survival of normal and malignant cells is poorly …
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Autoimmune Susceptibility Imposed by Public TCRβ Chains
<p>The major histocompatibility complex (MHC) is the strongest genetic risk factor for autoimmunity. It acts together with a corresponding TCR repertoire, yet, considering the extent of the repertoire's diversity, how this imposes disease susceptibility on a population is not well understood. We …
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Immune Landscape of early liver metastatic lesions in a Novel Immunocompetent Murine Colorectal Cancer Metastasis Model
<p>Colorectal cancer minimal residual disease (MRD) represents a major clinical problem for colorectal cancer patients, with failure rates of surgery and adjuvant chemotherapy between 5% to 40% depending on stage of disease. In our study, we simulated MRD using genetically engineered organoids with …
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Molecular Mechanisms That Govern Human Cardiac Stem Cell Age Disparity
<p>Transplantation of adult endogenous cardiovascular progenitor cells for heart repair results in some clinical benefit, however these stem cells lack the regenerative capacity unique to neonatal cardiovascular stem cells. The goal of this work was to identify mechanisms that contribute to the …
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Chromosome-Specific Telomere Length in Women with Breast Cancer: Their Relationship to Chemotherapy and Acquired Psychoneurological Symptoms
Breast cancer (BC) is one of the most common diagnosed malignancies in females. Although 90% of early diagnosed women are expected to survive for at least 5 years, their quality of life is adversely affected by a cluster of symptoms which we collectively named “psychoneurological symptoms’’ (PN). …
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Identification and Molecular Analysis of Dna In Exosomes
<p>Exosomes are heterogeneous nanoparticles 50-150nm in diameter. Exosomes contain many functional cargo components, such as protein, DNA, and RNA. While protein and RNA exosome content has been extensively studied, very little work has been done to characterize exosomal DNA. Here, we demonstrate …
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The Role of Pkd1 in Mouse Inner Ear Hair Cells
<p>The <em>polycystic kidney disease-1</em> (<em>Pkd1</em>) gene encodes a large transmembrane protein (polycystin-1 or PC-1) that is reported to function as a fluid flow-sensor in the kidney. As a member of the transient receptor potential (TRP) family, PC-1 has also been hypothesized to play a …
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Small Molecule Inhibitors of HPV16 E6
<p>High-risk human papillomaviruses (HR-HPVs) cause nearly all cases of cervical cancer. HPV 16 E6, one of two viral oncogenes, protects cells from apoptosis by binding to and accelerating the degradation of several apoptotic proteins, including caspase 8 and p53. We proposed that blocking the …
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THE EFFECTS OF AGE AND HETEROCHROMATIN ON FREQUENCIES OF ACQUIRED CHROMOSOMAL ANEUPLOIDY IN UNCULTURED HUMAN LEUKOCYTES
While age-related sex chromosomal aneuploidy is a well-characterized phenomenon, the relationship between autosomal loss and age remains unclear. The emergence of the specific and highly sensitive fluorescence in situ hybridization (FISH) technology has enabled investigators to study interphase …
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The Role of MCL-1 in the Heart: Gateway from Life to Death
<p>MCL-1 is an essential BCL-2 family member that promotes the survival of multiple cellular lineages, but its role in cardiac muscle has remained unclear. Here, we have demonstrated that cardiac-specific ablation of Mcl-1 results in a rapidly fatal, dilated cardiomyopathy preceded by loss of …
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Uncovering p53 Mutations and Abnormal Gene Expression in Pediatric Adrenocortical Cancer
<p>Pediatric adrenocortical cancer is extremely rare and often fatal (approximately 0.3-0.4 cases per million worldwide; 50% 5-year survival). The incidence of pediatric adrenocortical cancer in southern Brazil is 10-15 times higher than the worldwide incidence. Due to the rarity of adrenocortical …
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Comparative Studies of TSLP and IL-7 in Normal Early Human Neonatal and Adult B Cell Development
<p>Defining the role of cytokines in promoting human B cell development is important for understanding B cell leukemia and for developing strategies to restore B cell production that is lost during some therapies. The purpose of this study was to investigate the roles of the IL-7R ligands, thymic …
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