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.
Results
Showing 1 to 20 of 41 for “"candidate gene approach"”.
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Elucidating the molecular basis of a novel autosomal dominant fibrotic syndrome
… tendons and viscera, with variable penetrance. A candidate gene approach was adopted to investigate the molecular basis of this disease.
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Understanding the mechanisms of the photoperiod flowering pathway in soybean
… by environmental and endogenous cues. The general purpose of this thesis was to gain insight into the genetics of flower transition in the major crop specie, soybean (Glycine max). Chapter One introduces the long day dicot model species Arabidopsis thaliana that serves as the paradigm of …
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The Genetic Basis of Obesity
… to numerous studies focused on understanding the genetic basis of this complex disorder. To this effect, this thesis summarizes the current knowledge of obesity genetics, including the monogenic, polygenic and epigenetics field. Given the tremendous contribution of animal models, especially mouse …
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Signal Transduction Mechanisms in Commissural Axon Guidance: The Role of Intracellular Tyrosine Kinases in Netrin-Dcc/Frazzled Axon Attraction
… neural specification, axon guidance and synaptogenesis. Axon guidance, the process by which neurons extend axons to their final targets, relies on the presence of extracellular cues, and their respective guidance receptors. Intracellular molecules that transduce these signals are currently …
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Whole exome sequencing: a customised approach to exploring the genetic basis of musculoskeletal soft tissue injuries
… soft tissue injuries, suggesting a role for genetics in the aetiology of common sporting injuries such as chronic Achilles tendinopathy (AT) and anterior cruciate ligament (ACL) ruptures. Genetic risk modifiers have primarily been identified using a hypothesis driven candidate gene approach. …
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Molecular evolutionary analysis of the American pika (Ochotona princeps)
… are an excellent system to use for detecting genetic changes associated with adaptation to these conditions. American pika populations were located at lower elevations during glacials, and shifted upslope during interglacials. In this scenario, pikas would have experienced increased selective …
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Identification of epigenetically dysregulated genes in tumours that metastasise to the brain
… metastasise to the brain. The contribution that gene silencing through epigenetic mechanisms plays in metastasis to the brain is not well understood. To identify epigenetic drivers of brain metastasis, a combined candidate gene screen using literature review, bioinformatics analysis of 450K …
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Signatures of natural selection and local adaptation in Populus trichocarpa and Populus deltoides along latitudinal clines
… of natural selection on circadian clock-related genes in climatic adaptation, I took a candidate gene approach, selecting circadian clock genes, some of which had been functionally validated, and others hypothesized, to identify signatures of natural selection in Populus trichocarpa and P. …
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Untersuchungen über Veränderungen des Epigenoms bei der chronischen lymphatischen Leukämie
… aberrations there is increasing evidence that epigenetic processes contribute to the malignant phenotype of CLL. There is no known pathogenic mechanism inducing CLL, in fact concomitant alterations in various signaling pathways seem to lead to dysregulation of cell cycle and apoptosis. A large …
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Characterisation of Rare Genetic Variants Conferring Susceptibility to Psoriasis
… this hypothesis and explore different approaches to the identification of rare susceptibility alleles. A candidate gene approach was initially undertaken, through the re-sequencing of RNF114, a gene that had been associated with psoriasis in various GWAS. This led to the identification …
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DNA Damage responses in plant stem cells
… (ATM) and SUPPRESSOR OF GAMMA RESPONSE 1 (SOG1) genes. However, the components of the pathway leading to programmed cell death (PCD) in response to DSBs in plant stem cells are still unknown, and the in vivo DNA damaging agents relevant to this mechanism have not been characterised, providing the …
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Petal cell shape and flower-pollinator interaction in Nicotiana
… sister species in at least two phylogenetically distinct clades of the genus have contrasting petal epidermal cell shapes (conical vs. non-conical). This project aims to further understand character evolution of petal cell shape in Nicotiana and its implications in pollination …
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The evolutionary genetics of sexually selected plumage colour traits in the galliform birds
… the units that selection is acting upon, the genes themselves – what are they and how are they influenced by sexual selection? In this study I focused on in the evolution and genetics of colouration the galliform birds. Several novel loci were used to create a well resolved phylogeny of this …
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Towards Precision Medicine: Characterizing and Predicting Antidepressant Remission Heterogeneity in Late-life Depression Using Genetic Data
… in older adults (≥ 60 years), is a heterogeneous disorder characterized by a unique constellation of clinical symptoms and risk factors associated with ageing, including comorbidities such as cerebrovascular disease, which impact symptomatology and response to antidepressant medication. …
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Molecular characterization of three mental illness susceptibility genes
… notably the presence of psychosis. Overlapping genetic factors are involved in their pathogenesis and recently, genome-wide linkage scans and association studies have identified many new genes. However, studies focusing on functional follow-up for these genes are very rare, leaving a big gap in …
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Linking transcript, QTL and association mapping to understand the genetic control of leaf size and shape in Populus
… of biomass yield. In order to investigate the genetic variance contributing to this variation in leaf size a collection of Populus nigra L. were made from across Europe and were planted at a single site in Belgium, in a fully randomized and replicated trial, with leaf traits measured in three …
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A New Type of Programmed Cell Death in C. Elegans
… proteases, which are controlled by conserved gene pathways. Although non-apoptotic, caspase-independent programmed cell death pathways have been postulated, there is little evidence to convincingly prove their existence, and few insights regarding their molecular basis or possible in vivo …
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Development of leg motor neurons in drosophila melanogaster
… neurons are specified, in Chapter One, I give a general introduction of the mechanisms that regulate motor neuron generation and specification. In Chapter Two, I show that adult Drosophila leg motor neurons are mostly generated de novo during larval stages in a lineage dependent manner. Although …
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The Evolution and Development of Nectar Spurs
… is still unknown about the development and morphogenesis of spurs. This project aimed to determine the molecular and morphological processes underpinning nectar spur development. The well-known study system Antirrhinum majus (snapdragon), which possesses only a nectar pouch, called a gibba, was …
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Genetics of Cerebral Small Vessel Disease
… (CADASIL), caused by mutations in the NOTCH3 gene. In recent years, other genes have also been found to cause familial SVD, such as COL4A1/A2, HTRA1, FOXC1 and TREX1. Genome wide association studies (GWAS) have also revealed loci associated with sporadic SVD strokes and its related features. …
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