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 301 for “"Human Disease"”.
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Regulatory variation and human disease
… regulatory regions are strongly implicated in human disease via genetic studies. However, it is currently not possible to interpret reliably and systematically the functional consequences of genetic variation within any given transcription factor recognition sequence. To lay the groundwork for …
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Protein mis-folding and human disease
… proteins, which cause amyloidosis in humans. SAP not only stabilizes<br/>amyloid fibrils but also protects them from proteolytic and cell mediated<br/>degradation. SAP has been co-crystallized with three different aminoalkyl<br/>phosphonates that bind at the amyloid recognition site of …
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Next-generation sequencing (NGS) for human disease research
차세대 염기 서열 분석법(Next-generation sequencing)은 DNA 유전 정보를 읽어내는 기술을 자동화한 1세대 생어(Sanger) 방식에서 대량의 병렬 데이터 생산이 가능하게 진화한 차세대 염기 서열 분석기가 생산한 데이터를 분석하는 기법을 의미한다. 2007년, 차세대 염기 서열 분석법의 등장은 무어의 법칙(Moore's law)을 능가하는 속도로 염기 서열 분석 비용을 감속시키고 있으며 곧 한 사람의 염기 서열 분석이 $1,000에 가능하게 되리라는 것이 명확해졌다. 차세대 염기 서열 분석법은 정착 단계를 …
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DNA Secondary Structure in Human Disease and Gene Regulation
… critical roles in normal cellular processes and human diseases, but the extent of their formation and regulation on a genome-wide level is still not fully understood. The goal of this work is to further explore the role of DNA secondary structure formation in human disease, and to characterize …
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Enhancers and super-enhancers in human disease and therapy
The human body is made up of a diverse array of cell types, each with specialized properties and functions that support the organism as a whole. Despite this variability, with few exceptions, these cells contain the same genetic information. The incredible diversity in cellular function arises from …
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Evolutionary analysis of mammalian genomes and associations to human disease
… positive selection during the evolution of humans and four mammals used to model human diseases (mouse, rat, chimpanzee and dog) were identified, using maximum likelihood methods. I show that genes under positive selection during human evolution are implicated in diseases such as epithelial …
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Dehydroepiandrosterone and dehydroepiandrosterone sulphotransferase activity and expression in human disease
… most abundant circulating steroid hormones in humans. Uncongugated DHEA predominately exerts its effects via its downstream conversion to active sex steroids in peripheral target tissues. In contrast the conversion of DHEAS to androgens first requires cleavage of the sulfate group, catalysed by …
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Epigenetic determinants of cellular differentiation, transcriptional reprogramming, and human disease
Much of the diversity we observe in cellular and organismal phenotypes can be attributed to epigenetic and genetic variation. DNA provides the instructions for life, while epigenetic modifications regulate which parts of the genetic information contained in DNA can be read out in a given cell and …
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Computational methods to dissect the genetic basis of human disease
… (GWAS) have been successful in identifying disease-associated genetic variants. However, the path from GWAS to biological insight remains challenging, notably in identifying relevant biological pathways, explaining mechanistic links between diseases, and nominating disease-critical tissues …
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Characterization of Complement C3 Dysregulation Predisposing to Two Human Disease States
… component of complement, C3, is involved in a human disease state. In the first case, there is a loss of appropriate regulation of C3 and in the second an autoantibody to the C3 convertase leads to a secondary C3 deficiency. Atypical hemolytic uremic syndrome: aHUS) is a thrombotic …
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Roles for Chd7 in Zebrafish Development with Implications for Human Disease
… protein 7 (chd7)</em>, has been implicated in human CHARGE (coloboma of the eye, heart defects, atresia of the choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities and deafness) Syndrome and Idiopathic Scoliosis, however little is known …
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Interpreting the role of non-coding genetic variation in human disease
One of the fundamental goals of human genetics is to identify the genetic causes of human disease to ultimately design novel therapeutics. However, two challenges have become readily apparent. First, the majority of genomic regions associated with disease do not implicate protein-altering variants …
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Probing human disease through protein-ligand and protein-lipid interactions via molecular simulation
Submission original under an indefinite embargo labeled 'Open Access'. The submission was exported from vireo on 2025-03-28 without embargo terms
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Exploring the role of programmed axon death genes SARM1 and NMNAT2 in human disease
… path of axon destruction initiated by injury and disease. Two proteins are known to profoundly influence axonal health: the pro-death SARM1 and its upstream regulator, the pro-survival NMNAT2. Notably, complete removal of SARM1 has been shown to rescue injured axons permanently in one case and …
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Exploring the camouflaged and non-coding genome: analysing difficult genomic regions in human disease genetics
… duplications, and non-coding regions, in the human genome. These regions, often overlooked due to their complexity, hold immense potential for uncovering novel insights into disease genetics. In pursuit of this objective, this thesis first focused on the study of camouflaged and non-coding …
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Separate Roles of FAN1 and Fanconi Anemia Proteins in DNA Interstrand Crosslink Repair and Human Disease
… deficiency, which results in rare chronic kidney disease - Karyomegalic Interstitial Nephritis (KIN). FAN1 is a highly conserved nuclease from yeast to humans. It was first identified in an RNAi screen for proteins necessary for ICL repair and also as a direct interacting partner of FANCI/FANCD2 …
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Analysis of SMAUG1 protein motifs and interacting partners - linking regulation of phase separation to human disease
… condensates” is increasingly linked to human disease, including cancer and neurological disorders. Human SMAUG1 (SAMD4A) is a conserved translational repressor and condensate-forming protein implicated in neuronal function, metabolism, antiviral defence, and cancer. However, little is …
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Rational design of activity-based sensing probes to reveal the impact of inflammation on human disease progression
Submission published under a 24 month embargo labeled 'Closed Access', the embargo will last until 2026-08-01
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Investigating the role of UDP-<i>N</i>-acetylhexosamine pyrophosphorylases in regulating <i>O</i>-GlcNAcylation in human disease
… to interact with the catalytic domain of OGT in human carcinoma HepG2 cells and with CDK6 in gastric cancer cells. Genetic knockdown of UAP1L1 in HepG2 cells inhibited O-GlcNAcylation, cell proliferation and tumourigenesis. Recombinant UAP1L1 was found to not catalyse the formation of UDP-GlcNAc, …
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