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 316 for “"Genetic Variants"”.
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Rare Genetic Variants and Cancer Susceptibility
Genetic susceptibility to breast cancer is known to be conferred by common variants, identified through GWAS, together with some rarer variants conferring higher disease risks. The latter, identified through genetic linkage or targeted sequencing studies, includes protein-truncating variants and …
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Functional interpretation of cancer-associated genetic variants
… studies have hitherto identified several common genetic variants that may significantly modulate cancer susceptibility. However, the precise molecular mechanisms behind these associations remain largely uncharacterized, creating barriers to understanding the biological processes behind …
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EXAMINING THE CONTRIBUTION OF GENETIC VARIANTS TO CARDIOMETABOLIC TRAITS
… inflammation, as well as the environmental and genetic components underlying these conditions. Previous genetic research has mainly focused on searching for common genetic variants which contribute to risk, however, these variants have only managed to explain ~10% of genetic risk. The "missing …
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Identifying Genetic Variants and Characterizing Their Role In Clubfoot
… muscle hypoplasia. Despite strong evidence for a genetic liability, there is a limited understanding of the genetic and environmental factors contributing to the etiology of clubfoot. <em>The studies described in this dissertation were performed to identify variants and/or genes associated with …
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Characterisation of Rare Genetic Variants Conferring Susceptibility to Psoriasis
… suggesting the possibility that rare variants may also be pathogenic. The aim of this project was to further investigate this hypothesis and explore different approaches to the identification of rare susceptibility alleles. A candidate gene approach was initially undertaken, through …
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Genetic Variants and Risk in Sudden Cardiac Death Syndromes
… to sudden cardiac death (SCD) have a known genetic basis, including for example long QT syndrome (LQTS) and hypertrophic cardiomyopathy (HCM), and clinicians strive to identify the patients at highest risk of SCD events. Incomplete penetrance and variable expressivity even amongst …
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Use of luminescence energy transfer probes to detect genetic variants.
… an important tool in research and diagnosis of genetic disorders.
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Rare genetic variants in patients with age-related macular degeneration
Contains fulltext : 148918.pdf (Publisher’s version ) (Open Access)
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Dissecting the gene-regulatory circuitry of disease-associated genetic variants
… control genes, to evaluate the impact of genetic variants on the activity of diverse regulators. First, we generate a comprehensive compendium of predicted binding intensities across the entire genome for over 500 transcription factors. Second, we create a novel dataset to connect how …
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Natural Genetic Variants in Humans and Salmonellae Underlie Variable Infection Outcomes
… diverse set of outcomes by unraveling how genetic diversity in both Salmonellae and humans impact infection.</p><p>S. enterica is a very diverse pathogen with thousands of serovars. In their core genome, all S. enterica serovars carry two molecular syringes called type-three secretions …
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Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
Most known genetic causes of severe childhood developmental disorders are rare, deleterious, protein-coding changes that cause Mendelian disorders. Children with these disorders typically show early-onset impairment in growth, learning and adaptive behaviours. Linkage and whole exome sequencing …
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Deconvoluting genetic variants associated with aortic disease using stem cell models
… stage of disease can be informed by utilising genetic data, which in recent years has rapidly increased with the expansion of next-generation sequencing technologies. However, a critical challenge in genomic medicine is determining which variants identified by whole genome sequencing are causal …
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Deciphering tranSNPs: functional genetic variants shaping protein output and cancer-related phenotypes
This study investigates the impact of genetic diversity, in the form of single-nucleotide polymorphisms (SNPs), on the post-transcriptional control of gene expression, to identify a novel class of functional SNPs, named tranSNPs, with potential applications as biomarkers for cancer diagnosis, …
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Mining common genetic Variants impacting on Allele-Specific Translation and cancer risk
… in translation efficiency mediated by tranSNPs: genetic variants that influence mRNA translation. By leveraging RNA-seq data from total and polysomal RNA, a pipeline was developed to identify tranSNPs and validate their functional consequences. Two case studies, rs1053639 in the DDIT4’s 3’UTR and …
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Genetic variants of EPO and EPOR influence cognitive core features of schizophrenia
Einleitung: Die positive Wirkung von Erythropoietin (Epo), ein hämatopoetischer Wachstumsfaktor, auf die kognitive Leistung ist bereits seit längerem bekannt, jedoch wurde dieser Effekt nahezu ebenso lang durch die Steigerung des Hämoglobinlevels erklärt. Selbst nach der Entdeckung von Epo und …
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A Pilot Study- Identify Genetic Variants for Diabetic Cataract Using GoDARTS Dataset
… The purpose of this study was to identify genetic contributors of diabetic cataract based on a genome-wide association approach using a well-defined Scottish diabetic cohort.<br/><br/><b>Methods</b>: A diabetic cataract case in this study was defined as a type 2 diabetic patient who has …
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HUMAN GENETIC VARIANTS IN ESSENTIAL SPLICING FACTORS AND THEIR IMPACT ON IMMUNE PATHOLOGY
… (SFs). Here we present two unique cases in which genetic variations in two essential SFs, DExD-box polypeptide 39B (DDX39B) and U2 small nuclear RNA auxiliary factor 1 (U2AF1), contribute to altered splicing of Forkhead box P3 (FOXP3) – an immunoregulatory gene critical for regulatory T (Treg) …
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THE ROLE OF GENETIC VARIANTS OF NON-STRUCTURAL PROTEIN 1 IN DENGUE PATHOGENESIS
… of severe disease. This work explored several genetic variants of NS1 present in the viral population with an emphasis on T164S mutation that has been associated with increased intraepidemic disease severity to understand the role of NS1 in virus replication and disease pathogenesis. The T164S …
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Investigating the role of rare genetic variants in the aetiology of haemostasis disorders
… for inherited conditions, and, nowadays, the genetic bases for thousands of Mendelian disorders have been identified. However, providing a molecular diagnosis for these conditions remains challenging, and a considerable portion of patients with inherited conditions still lack a genetic …
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Evaluation of genetic variants for Type 2 diabetes associated kidney disease in African Americans
… in epidemiologic studies suggests that genetic factors may contribute to the risk of DKD. While apolipoprotein L1 gene (APOL1) G1 and G2 alleles explain approximately 70% of the disparity in non-diabetic ESKD in AAs, they fail to account for the excess risk of T2D-ESKD in AAs. Genetic …
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