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Dissertations / Theses on the topic 'Development of disease'

Author: Grafiati

Published: 7 June 2025

Last updated: 2 August 2025

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1

Elitt, Matthew S. "DISEASE MODELING AND THERAPEUTIC DEVELOPMENT FOR PELIZAEUS-MERZBACHER DISEASE." Case Western Reserve University School of Graduate Studies / OhioLINK, 2019. http://rave.ohiolink.edu/etdc/view?acc_num=case1536687505814955.

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2

Zhou, Zhongjun. "Metalloproteinases in development and disease /." Stockholm, 2004. http://diss.kib.ki.se/2004/91-7140-001-X/.

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3

Joshi, Leena. "Middle ear development : genetics and disease." Thesis, King's College London (University of London), 2013. http://kclpure.kcl.ac.uk/portal/en/theses/middle-ear-development(1c50ca89-84f5-4011-a9a7-1707ec43ded1).html.

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The mammalian middle ear is composed of three bony ossicles, the malleus, incus, and stapes that function to conduct sound from the external to the inner ear. Normal development of middle ear structures is integral for transduction of sound, defects resulting in conductive deafness. Mice are reliant on both embryonic and postnatal developmental events to acquire hearing, and Eya1 mutant mice present with middle ear defects during both these developmental periods. Therefore, the aim of this project was to investigate the role of Eya1 in middle ear development and disease. Eya1 mutant mice on se

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4

Li, Zhaoli Amy, and 李昭立. "Aquaporins in kidney development and disease." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2004. http://hub.hku.hk/bib/B29505987.

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5

Nguyen, Huy Tuan. "Dystroglycan in cerebellar development and disease." Diss., University of Iowa, 2013. https://ir.uiowa.edu/etd/1709.

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Dystroglycanopathies are muscular dystrophies caused by mutations in genes involved the in O-linked glycosylation of alpha-dystroglycan. Severe forms exhibit brain and ocular developmental abnormalities in addition to muscular dystrophy. While cerebellar dysplasia is a common feature of dystroglycanopathy, its pathogenesis has not been thoroughly investigated. Here we evaluate the role of dystroglycan during cerebellar development. Brain-selective deletion of dystroglycan does not affect overall cerebellar growth, but causes malformations associated with glia limitans disruptions and granule c

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6

Woodberry, Tonia. "Development of a mucosal HIV polytope vaccine /." [St. Lucia, Qld.], 2001. http://www.library.uq.edu.au/pdfserve.php?image=thesisabs/absthe16255.pdf.

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7

Kawchuk, Lawrence Michael. "Molecular characterization of potato leafroll luteovirus and development of genetically engineered resistance." Thesis, University of British Columbia, 1990. http://hdl.handle.net/2429/30684.

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Complementary DNA (cDNA) clones representing approximately 5800 nucleotides of potato leafroll virus (PLRV) genomic RNA were generated, restriction-mapped, and partially sequenced. Within one of the cDNA clones an open reading frame (ORF) that could encode a 23 kDa protein was identified and further characterized. Comparison of the deduced amino acid sequence with the coat protein amino acid sequence of the PAV strain of barley yellow dwarf luteovirus (BYDV-PAV) showed significant similarity. This observation together with its size and internal location within the genome suggested that this ge

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8

Kawasaki, Jun. "RASA1 Function in Vascular Development and Disease." Thesis, Harvard University, 2012. http://dissertations.umi.com/gsas.harvard:10357.

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Vascular anomalies include a range of mild to severe defects that can be life-threatening, debilitating, or disfiguring. Mutation in the RASA1 gene was found to underlie capillary malformation-arteriovenous malformation; however, there has been no mechanistic understanding of how the loss of function of RASA1 contributes to this disease. In human endothelial cells, presence of ephrin-B2 dominated over serum stimulation to reduce MAPK and PI3K-mTORC1 pathway activation, only when EphB4 and RASA1 were both present. Indeed, zebrafish model showed that vascular defects in EphB4 knockdown embryos w

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9

McMillan, James Robert. "Hemidesmosomes in human skin development and disease." Thesis, King's College London (University of London), 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.265693.

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10

Godfrey, Keith Malcolm. "Maternal nutrition, fetal development and adult disease." Thesis, University of Southampton, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.285785.

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11

Heiser, Patrick W. "Wnt signaling in pancreas development and disease." Diss., Search in ProQuest Dissertations & Theses. UC Only, 2007. http://gateway.proquest.com/openurl?url_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:dissertation&res_dat=xri:pqdiss&rft_dat=xri:pqdiss:3261237.

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12

Aksan, Anna-Maria 1982. "Three Essays on Disease and Economic Development." Thesis, University of Oregon, 2010. http://hdl.handle.net/1794/10865.

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ix, 88 p. A print copy of this thesis is available through the UO Libraries. Search the library catalog for the location and call number.<br>This dissertation addresses the high disease burden in developing countries today by examining the role of disease in economic development through its impact on productivity, fertility and human capital investment. In the second chapter of this dissertation, I model the impact on labor productivity of a change in disease susceptibility that results from intellectual property rights (IPR) reform. I develop a North-South model in which the disease envi

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13

Fineberg, Sarah Kathryn. "MicroRNAs' role in brain development and disease." Diss., University of Iowa, 2010. https://ir.uiowa.edu/etd/498.

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MicroRNA (miRNA) function is required for normal animal development, in particular in stem cell and precursor populations. I hypothesize that miRNAs are similarly required for stem cell maintenance and appropriate fate commitment in the brain. To test the requirement for global microRNA production, I depleted the microRNA biosynthetic enzyme DICER in the developing mouse brain. I found that DICER loss in embryonic neural progenitor cells leads to embryonic lethality with microcephaly. By histological analysis, I found defects in both neural progenitor cell maintenance and cell differentiation.

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14

Lin, Shengda. "Wnt5b signaling in zebrafish development and disease." Diss., University of Iowa, 2010. https://ir.uiowa.edu/etd/2740.

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Wnts are secreted glycoproteins that activate signaling pathways important in development and disease. The canonical Wnt pathway activates nuclear localization of β-catenin, a multi-functional protein involved in cell adhesion and transcription. Other Wnt pathways, which appear to be independent of nuclear β-catenin, are collectively categorized as non-canonical pathways. Non-canonical Wnt pathways are involved in a variety of biological processes such as establishing planar cell polarity (PCP), stimulating intra-cellular calcium release and antagonizing canonical Wnt signaling. Wnt proteins s

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15

Stegeman, Shane. "The De-ubiquitylating Enzyme USP9X is Essential for Normal Neural Development in Mouse." Thesis, Griffith University, 2012. http://hdl.handle.net/10072/365533.

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The ubiquitin system is involved in almost all aspects of protein function and cell fate and is thought to play an important role during neural development. Defects within the ubiquitin system have been linked to a range of neuro-degenerative diseases including Parkinson’s and Alzheimer’s disease. De-ubiquitylating enzymes function downstream in the ubiquitin pathway having potential to act as the final arbiters of substrate fate and function. Several studies have shown that de-ubiquitylating enzymes play important roles in the growth, function and maintenance of neurons. The substrate-specifi

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16

Blaise, Philippe. "Development of microcomputer applications in plant disease epidemiology /." [S.l.] : [s.n.], 1989. http://e-collection.ethbib.ethz.ch/show?type=diss&nr=8929.

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17

au, w. ditcham@murdoch edu, and William Ditcham. "The development of recombinant vaccines against Jembrana disease." Murdoch University, 2007. http://wwwlib.murdoch.edu.au/adt/browse/view/adt-MU20071119.94111.

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Jembrana disease virus (JDV) is a lentivirus causing an acute infection with a 17% case fatality rate in Bali cattle in Indonesia. Control of the disease is currently achieved by identification of infected areas and restriction of cattle movement. A detergent-inactivated whole virus tissue-derived vaccine is sometimes employed in affected areas. This thesis reports initial attempts to produce genetically engineered vaccines to replace the inactivated tissue-derived vaccine, which as it is made from homogenised spleen of infected animals, is expensive to produce and could contain adventitious

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18

DiMichele, Laura Antonietta Taylor Joan M. "Focal adhesion kinase in cardiac development and disease." Chapel Hill, N.C. : University of North Carolina at Chapel Hill, 2007. http://dc.lib.unc.edu/u?/etd,1356.

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Thesis (Ph. D.)--University of North Carolina at Chapel Hill, 2007.<br>Title from electronic title page (viewed Apr. 25, 2008). "... in partial fulfillment of the requirements for the degree of Doctor of Philosophy in the Department of Pathology and Laboratory Medicine." Discipline: Pathology and Laboratory Medicine; Department/School: Medicine.

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19

Nisar, Rizwan. "Common pesticides and the development of Parkinson's disease." Thesis, University of Newcastle Upon Tyne, 2011. http://hdl.handle.net/10443/1079.

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Parkinson’s disease (PD) is an age-related neurodegenerative disorder, characterised by progressive degeneration of dopaminergic neurons in the substantia nigra, with the formation of α-synuclein rich, intracytoplasmic Lewy bodies. Several genetic and environmental factors, including pesticides are linked with sporadic PD. The aim of this study was to investigate the effect of selected pesticides on dopaminergic neuroblastoma SH-SY5Y cells and differentiated human neural precursor cells. Several parameters of toxicity were successfully measured including cell-viability in SH-SY5Y cells and est

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20

Taylor, Stephen. "Development of predictors of protection from meningococcal disease." Thesis, Open University, 2010. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.524790.

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21

Jones, Frances E. "The corneal endothelium in development, disease and surgery." Thesis, Cardiff University, 2013. http://orca.cf.ac.uk/49911/.

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Aims: The cornea is a tough, transparent tissue providing the primary refractive element of the eye. The stroma consists of specially arranged collagen required for corneal transparency. Correct stromal hydration is important in the maintenance of transparency, a feature controlled by the endothelial cells on the posterior surface of the cornea. The aims of this research were firstly to investigate the morphology of corneal endothelial cells and their expression of the sodium bicarbonate cotransporter during avian embryonic development and secondly, to clarify the effect of disease, surgery an

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22

Rallis, Charalampos. "T-box genes in limb development and disease." Thesis, Open University, 2004. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.409870.

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23

Miller, Michael Ryan. "Functional Genomics of Nervous System Development and Disease." Thesis, University of Oregon, 2011. http://hdl.handle.net/1794/12102.

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xiii, 145 p. : ill. (some col.)<br>The goal of functional genomics is to elucidate the relationship between an organism's genotype and phenotype. A key characteristic of functional genomics is the use of genome-wide approaches as opposed to more traditional single-gene approaches. Genome-wide expression profiling is used to investigate the dynamic properties of transcriptomes, provides insights into how biological functions are encoded in genomes, and is an important technique in functional genomics. This dissertation describes the use of genome-wide expression profiling and other functional g

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24

Brzoska, H. L. "Planar cell polarity in kidney development and disease." Thesis, University College London (University of London), 2017. http://discovery.ucl.ac.uk/1558749/.

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Planar cell polarity (PCP) is a signalling pathway regulating epithelial cell alignment and coordinated organisation, processes that are essential for the development and maintenance of healthy organs and tissues. In this thesis, I hypothesised that the core PCP protein, Celsr1 is essential for normal kidney development. Furthermore, I predicted that PCP proteins would be disrupted in a model of renal disease induced by folic acid. Kidneys of mice homozygous for a mutation in Celsr1 (Celsr1Crsh/Crsh) were significantly smaller compared with wild-type littermates and contained a reduced number

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25

Campbell-Washburn, A. E. "Development of MRI methods for experimental disease models." Thesis, University College London (University of London), 2012. http://discovery.ucl.ac.uk/1378548/.

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Magnetic resonance imaging (MRI) is a powerful technique for the in vivo study of experimental disease models. The application of MRI to animal models requires the development of specialized methods which can provide insight into anatomy, function, physiology and specific pathology. This thesis research focused around the development of MRI methods for imaging the mouse heart and other body organs. In this work, single slice arterial spin labelling (ASL) was implemented and optimized for the in vivo measurement of perfusion in the mouse heart. A fast ECG-gated Look-Locker sequence was used for

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26

Russel, Oliver Michael. "Development and discovery of treatments for mitochondrial disease." Thesis, University of Newcastle upon Tyne, 2014. http://hdl.handle.net/10443/2434.

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Although mitochondrial disorders are the most common inherited form of neuromuscular disease, there are currently limited effective treatments that directly improve mitochondrial function – either by modulation of the effects of mutated genes or by increasing the proportion of healthy mitochondria. In this work, two different approaches were employed to develop treatments for mitochondrial diseases: the design of mitochondrially targeted anti-sense oligonucleotides and the development of a high throughput screen of a unique library of bacterial extracts. The heteroplasmic nature of mitochondri

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27

Duvenage, Lucian. "Beak and feather disease virus candidate vaccine development." Master's thesis, University of Cape Town, 2012. http://hdl.handle.net/11427/12785.

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Includes bibliographical references.<br>[Fix supervisors field.] Psittacine beak and feather disease, caused by a circovirus known as beak and feather disease virus (BFDV), is a threat to both wild and captive psittacine species. There is currently no vaccine against BFDV and safe and affordable vaccine candidates are needed to alleviate the disease burden caused by this virus. Production of the BFDV's major antigenic determinant, the capsid protein (CP), in the inexpensive and highly scalable plant expression system, could satisfy these requirements as a potential subunit vaccine. In this wor

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28

Jackson, Ashley R. "Significance of Renal Urothelium During Development and Disease." The Ohio State University, 2016. http://rave.ohiolink.edu/etdc/view?acc_num=osu1459778047.

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29

Heward, Joanne Marie. "Genetic susceptibility to the development of Graves' disease." Thesis, University of Birmingham, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.343429.

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30

Wheeler, Natalie A. "Autotaxin in Central Nervous System Development and Disease." VCU Scholars Compass, 2016. http://scholarscompass.vcu.edu/etd/4104.

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During development, oligodendrocytes (OLGs), the myelinating cells of the central nervous system (CNS), undergo a stepwise progression during which OLG progenitors, specified from neural stem/progenitor cells, differentiate into fully mature myelinating OLGs. This progression along the OLG lineage is characterized by well-synchronized changes in morphology and gene expression patterns. The studies presented in this dissertation identified the extracellular factor Autotaxin (ATX) as a novel upstream signal modulating HDAC1/2 activity and gene expression in cells of the OLG lineage. Using the ze

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31

Harding-Smith, Rebekka. "Gene transfer vector development to treat lung disease." Thesis, University of Oxford, 2014. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.711729.

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32

Ketola, Ilkka. "GATA transcription factors during testicular development and disease." Helsinki : University of Helsinki, 2003. http://ethesis.helsinki.fi/julkaisut/laa/kliin/vk/ketola/.

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33

Toda, Narihiro. "Development of Novel Therapeutic Agents for Alzheimer's Disease." 京都大学 (Kyoto University), 2004. http://hdl.handle.net/2433/147672.

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34

Ditcham, William. "The development of recombinant vaccines against Jembrana disease." Thesis, Ditcham, William (2007) The development of recombinant vaccines against Jembrana disease. PhD thesis, Murdoch University, 2007. https://researchrepository.murdoch.edu.au/id/eprint/438/.

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Jembrana disease virus (JDV) is a lentivirus causing an acute infection with a 17% case fatality rate in Bali cattle in Indonesia. Control of the disease is currently achieved by identification of infected areas and restriction of cattle movement. A detergent-inactivated whole virus tissue-derived vaccine is sometimes employed in affected areas. This thesis reports initial attempts to produce genetically engineered vaccines to replace the inactivated tissue-derived vaccine, which as it is made from homogenised spleen of infected animals, is expensive to produce and could contain adventitio

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35

Ditcham, William. "The development of recombinant vaccines against Jembrana disease." Ditcham, William (2007) The development of recombinant vaccines against Jembrana disease. PhD thesis, Murdoch University, 2007. http://researchrepository.murdoch.edu.au/438/.

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Jembrana disease virus (JDV) is a lentivirus causing an acute infection with a 17% case fatality rate in Bali cattle in Indonesia. Control of the disease is currently achieved by identification of infected areas and restriction of cattle movement. A detergent-inactivated whole virus tissue-derived vaccine is sometimes employed in affected areas. This thesis reports initial attempts to produce genetically engineered vaccines to replace the inactivated tissue-derived vaccine, which as it is made from homogenised spleen of infected animals, is expensive to produce and could contain adventitiou

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36

Brown, Jessie Ann. "RUNX2 in Embryonic Heart Development and Heart Disease." Thesis, The University of Arizona, 2011. http://hdl.handle.net/10150/144250.

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37

Morin, Louise. "Development of the field bindweed bioherbicide, Phomopsis convolvulus : spore production and disease development." Thesis, McGill University, 1989. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=59614.

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Phomopsis convolvulus Ormeno, a foliar pathogen of field bindweed, is a good candidate to be developed as a bioherbicide. Large numbers of infective propagules were produced in shake-flask liquid fermentation with modified Richard's (V-8) medium and in solid-substrate fermentation with pearl barley grains. In complex liquid media, pycnidium-like structures were observed. Most conidia stored at $-$70$ sp circ$C remained viable and virulent for at least six months.<br>In controlled environment studies, a minimum of 18 hr of dew was required for severe disease development on inoculated plants. Th

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38

Edman, Linda C. "Chemokines and their role in dopaminergic development." Stockholm : Department of Medical Biochemistry and Biophysics, Karolinska Institutet, 2009. http://diss.kib.ki.se/2009/978-91-7409-688-0/.

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39

Gaudet, Françoise. "Functional analysis of DNA hypomethylation in development and disease." [S.l.] : [s.n.], 2006. http://edoc.ub.uni-muenchen.de/archive/00005560.

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40

Gaudet, François. "Functional Analysis of DNA Methylation in Development and Disease." Diss., lmu, 2006. http://nbn-resolving.de/urn:nbn:de:bvb:19-55600.

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41

Bultmann, Sebastian. "The role of DNA modifications during development and disease." Diss., lmu, 2012. http://nbn-resolving.de/urn:nbn:de:bvb:19-145679.

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42

Hwang, David Muren. "Analysis of gene expression in cardiac development and disease." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1998. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape10/PQDD_0012/NQ41443.pdf.

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43

Pandey, Gaurav Kumar. "Regulatory Roles of Noncoding RNA in Development and Disease." Doctoral thesis, Uppsala universitet, Institutionen för immunologi, genetik och patologi, 2013. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-209596.

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Long noncoding RNAs (lncRNAs) are being realized as important players in gene regulation and their misregulation has been considered as one of the underlying causes for tumor initiation and progression in many human pathologies. In the current thesis, I have addressed the functional role of lncRNAs in development and disease model systems. Genomic imprinting is an epigenetic phenomenon by which subset of genes are expressed in a parent of origin-specific manner. The Kcnq1 imprinted locus is epigenetically regulated by Kcnq1ot1 lncRNA. Deletion of an 890bp region at the 5’ end of Kcnq1ot1 in mo

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44

Pal, Suvankar. "Development of novel molecular diagnostic strategies in prion disease." Thesis, University College London (University of London), 2009. http://discovery.ucl.ac.uk/17554/.

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The causal association of variant Creutzfeldt-Jakob disease (vCJD) with bovine spongiform encephalopathy has raised significant concerns of a human epidemic. prolonged disease incubation, the possibility of asymptomatic carrier states, and the recognition of a transfusion-associated vCJD pose further public health concerns. Development of diagnostic tests is challenging as prions appear devoid of nucleic acid and comprised principally of an abnormal isoform (PrPSc) of host encoded prion protein (PrPC) to which there is immune tolerance. Detection of PrPSc can be used diagnostically but reliabl

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45

Anastasaki, Korina. "MAPK pathway : a role in development, disease and behaviour." Thesis, University of Edinburgh, 2011. http://hdl.handle.net/1842/5955.

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Mutations in the RAS-RAF-MEK-ERK (MAPK) pathway give rise to a range of developmental disorders collectively referred to as the RASopathies. De novo germline mutations in patients suffering from these syndromes promote similar phenotypes, which include heart abnormalities, characteristic facial features, cutaneous malformations, gastrointestinal malfunctions, failure to thrive and a spectrum of mental retardation. Although many RASopathies patients show a propensity to develop early-onset benign and malignant tumours, Cardio-faciocutaneous (CFC) syndrome patients do not seem to share this pred

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46

Bowen, Margot Elizabeth. "Applying Next Generation Sequencing to Skeletal Development and Disease." Thesis, Harvard University, 2013. http://dissertations.umi.com/gsas.harvard:11233.

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Next Generation Sequencing (NGS) technologies have dramatically increased the throughput and lowered the cost of DNA sequencing. In this thesis, I apply these technologies to unresolved questions in skeletal development and disease. Firstly, I use targeted re-sequencing of genomic DNA to identify the genetic cause of the cartilage tumor syndrome, metachondromatosis (MC). I show that the majority of MC patients carry heterozygous loss-of-function mutations in the PTPN11 gene, which encodes a phosphatase, SHP2, involved in many signaling pathways. Furthermore, I show that cartilage lesions in MC

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47

Denby, Laura. "Development of targeted gene therapy vectors for cardiovascular disease." Thesis, University of Glasgow, 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.422499.

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48

Torsney, Evelyn. "The role of endoglin in vascular development and disease." Thesis, University of Newcastle Upon Tyne, 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.270788.

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49

Varley, John Graeme. "Development of a model of allergic airways disease A." Thesis, University of Southampton, 1992. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.385226.

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50

Lange, C. A. K. "Oxygen sensing mechanisms in retinal vascular development and disease." Thesis, University College London (University of London), 2012. http://discovery.ucl.ac.uk/1379646/.

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Oxygen sensing is a fundamental biological process which is critical for appropriate development of the eye and implicated in neovascular eye disease including age-related macular degeneration, diabetic retinopathy and retinopathy of prematurity. This thesis describes a programme of work designed to investigate the role of hypoxia-inducible transcription factors (Hif’s), its downstream effector proteins, and its upstream regulator, the von Hippel Lindau protein (Vhl), in the development of the eye and neovascular eye disease. The first part of this work investigates the consequences of Hif act

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