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Dissertations / Theses on the topic 'Molecular basis'

Author: Grafiati

Published: 4 June 2021

Last updated: 26 July 2025

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1

Pecoraro, Michela. "Molecular basis of cardiomiopathy." Doctoral thesis, Universita degli studi di Salerno, 2018. http://hdl.handle.net/10556/3019.

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2016 - 2017<br>The normal heart rhythm is guaranteed by an important intercellular junctions system, named Gap Junction (GJs). Each GJs consists of two units called connexons formed by six specific trans-membrane proteins named connexins (Cx). Recent reports suggest the presence of Cx43 in the inner mitochondrial membrane where it plays an important cardioprotection mechanism. Alterations in Cx43 expression and distribution were observed in several myocardium disease; i.e. in hypertrophic cardiomyopathy, heart failure and ischemia. Thus, in this doctoral study, we investigated the rol

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2

Mukherji, Mridul. "Molecular basis of Refsum's disease." Thesis, University of Oxford, 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.365888.

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3

Horley, Neill. "Molecular basis of CYP2B2 induction." Thesis, University of Nottingham, 1999. http://eprints.nottingham.ac.uk/10397/.

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Many structurally unrelated chemicals can induce members of the cytochrome P450 superfamily with phenobarbital (PB) being a typical example. PB induces CYP2B1/2, which are most highly expressed in the liver. Their mechanism of activation has not yet been elucidated, with advances hampered by the absence of a suitable cell culture system to mimic the in vivo PB-mediated induction. During this thesis a primary rat hepatocyte culture system has been developed which is highly responsive to PB at both RNA and protein levels. A sensitive and specific RNAse protection assay (RPA) has been used to dem

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4

Machuca-Tzili, Laura E. "Molecular basis of myotonic dystrophy." Thesis, University of Nottingham, 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.440000.

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5

Brouwer, J. R. "The molecular basis of FXTAS." [S.l.] : Rotterdam : [The Author] ; Erasmus University [Host], 2008. http://hdl.handle.net/1765/13367.

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6

Gutierrez, Prat Núria. "Molecular basis of p38a MAPK signaling." Doctoral thesis, Universitat de Barcelona, 2018. http://hdl.handle.net/10803/663438.

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Cells often need to respond to damaging internal and external stimuli. One of the pathways that is frequently activated by stress stimuli involves activation of the kinase p38alpha, which can phosphorylate different substrates, including MK2. Experiments using purified proteins have shown that non-phosphorylated p38alpha and MK2 can form a tight complex, in which structural constraints impede the interaction of both kinases with effectors and regulators. It is therefore critical to understand how the interaction between p38alpha and MK2 is regulated to ensure that they can release from each

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7

Masureel, Matthieu. "Molecular basis of secondary multidrug transport." Doctoral thesis, Universite Libre de Bruxelles, 2013. http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/209479.

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The Major Facilitator Superfamily groups a vast number of secondary transporters that import or export distinct substrates. Among these, multidrug antiporters constitute a peculiar class of transporters, both because of their multispecificity, recognizing structurally very diverse substrates, and because of their transport mechanism, that relies on bilayer-mediated extrusion of cytotoxic compounds. An accurate and detailed description of the conformational changes that underlie the transport cycle is still lacking and the structural basis for energetic coupling in these transporters has not be

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8

Ledoux, Pierre. "The molecular basis of prolidase deficiency." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1997. http://www.collectionscanada.ca/obj/s4/f2/dsk2/tape16/PQDD_0002/NQ30316.pdf.

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9

Heldring, Nina. "Molecular basis of estrogen receptor antagonism /." Stockholm, 2006. http://diss.kib.ki.se/2006/91-7140-634-4/.

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10

Yu, Sui. "Molecular basis of fragile X syndrome /." Title page, contents and summary only, 1992. http://web4.library.adelaide.edu.au/theses/09PH/09phy937.pdf.

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11

Ledoux, Pierre 1964. "The molecular basis of prolidase deficiency /." Thesis, McGill University, 1996. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=42074.

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Prolidase (E.C.3.4.13.9) hydrolyzes imidodipeptides. Prolidase deficiency (PD) (McKusick no. 170100) is an autosomal recessive disorder characterized by a highly variable clinical phenotype. Mutation analysis was performed on a panel of 10 PD cell lines. Single-stranded conformation polymorphism analysis (SSCP) analysis on four overlapping cDNA-PCR products covering the entire coding region of the prolidase gene revealed seven novel mutations: G $ to$ A,551 (R184Q); G $ to$ A,833 (G278D); G $ to$ A, 1342 (G448R); G $ to$ A, 1354 (E452K); delGAG, 1354-1356 (delE452); a deletion of exon 5; and a

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12

Dianzani, Irma. "Molecular basis of hyperphenylaninemia in Italy." Thesis, Brunel University, 1991. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.293001.

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13

Mohaghegh, Payam. "Molecular basis of spinal muscular atrophy." Thesis, University of Oxford, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.325835.

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14

Lynch, J. R. "The molecular basis of #beta# thalassaemia." Thesis, University of Oxford, 1987. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.379949.

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15

Cherukuri, Sunil Choudhary. "Molecular basis of Calcicole-Calcifuge physiology." Thesis, Lancaster University, 2008. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.539642.

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16

Bell, Alexander. "The molecular basis of peroxisome proliferation." Thesis, University of Nottingham, 1998. http://eprints.nottingham.ac.uk/10395/.

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Characterisation of expression of functional Peroxisome Proliferator Activated Receptora (PPARalpha)receptor in rodent species responsive and non-responsive to peroxisome proliferators is important for our understanding of the molecular mechanism of peroxisome proliferation and peroxisome proliferator induced hepatocarcinogenesis. In vitro electromobility shift assays, demonstrated that rodent liver nuclear proteins (LNP) bound to a Peroxisome Proliferator Response Element (PPRE) in a sequence specific manner and that LNP from methylclofenapate (MCP) treated mice do not have enhanced binding t

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17

Baxter, Carol Anne. "Molecular fragments and the hybrid basis." Thesis, University of Sheffield, 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.245545.

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18

Beauchamp, Nicholas James. "Molecular genetic basis of inherited thrombophilia." Thesis, University of Sheffield, 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.287349.

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19

Townsend, Paul Andrew. "The molecular basis of osteoblast adhesion." Thesis, University College London (University of London), 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.263651.

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20

Arya, Roopen. "Molecular basis of tiosephosphate isomerase deficiency." Thesis, King's College London (University of London), 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.321940.

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21

Thompson, Lisa Jane. "Molecular basis of Wiskott-Aldrich syndrome." Thesis, King's College London (University of London), 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.413813.

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22

Brown, Kyla Joy. "Molecular basis of R133C Rett syndrome." Thesis, University of Edinburgh, 2016. http://hdl.handle.net/1842/20412.

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Rett syndrome is a debilitating autistic spectrum disorder affecting one in ten thousand girls. Patients develop normally for up to eighteen months before a period of regression involving stagnation in head growth, loss of speech, hand use and mobility. It is almost exclusively caused by mutation in Methyl CpG binding Protein 2 (MeCP2). MeCP2 has traditionally been thought of as a transcriptional repressor, although its exact function remains unknown and it has recently been shown that the protein can also bind to hydroxymethylation and non-CpG methylation, which occurs predominantly at CAC si

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23

Rivarola, Sena Ana Clarizza. "The molecular basis of carpel evolution." Thesis, Lyon, 2020. http://www.theses.fr/2020LYSEN062.

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Le carpelle est l’organe reproducteur femelle des plantes à fleurs. Nous présentons une analyse transcriptomique comparative, focalisant particulièrement sur le développement des tissus femelles reproducteurs, entre la plante modèle établie Arabidopsis thaliana et la soeur probable du restant des plantes à fleurs vivantes Amborella trichopoda. Des modules de co-expression de gènes ont été d’abord définis et ensuite comparés statistiquement entre espèces sur la base de relations d’orthologie entre tous les gènes dans les deux génomes sous comparaison. Cette étude a révélé des modules génétiques

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24

Law, James. "Molecular basis of bacterial formaldehyde sensing." Thesis, University of Manchester, 2012. https://www.research.manchester.ac.uk/portal/en/theses/molecular-basis-of-bacterial-formaldehyde-sensing(40c58dc5-c99b-4709-88aa-b35f9cd7ec62).html.

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Formaldehyde is a highly toxic molecule; despite this, it is produced in the cells of all living organisms as a by-product of metabolic pathways. Consequently, several pathways have evolved throughout life in order to detoxify cellular formaldehyde. These pathways need to be regulated within the cell and this study sets out to determine how these pathways are regulated in particular bacteria. Several approaches are taken to achieve this. Known or predicted transcription factors that regulate formaldehyde detoxification pathways from particular organisms are considered. These proteins are calle

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25

Tulloch, Merrin E. "Molecular basis of inherited retinal degenerations." Thesis, Imperial College London, 2007. http://hdl.handle.net/10044/1/7382.

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Mutations of the REP-l gene are responsible for the X-linked retinal degeneration choroideremia (CHM). Rab Escort Protein-I (REP-I) mediates the post-translational prenyl modification of Rab GTPases. In CHM patients, the related REP-2 partly compensates for the loss-offunction of REP-I, but a subset of Rabs remain und~renylated and thus inactive. A zebrafish model of CHM exhibiting a truncating mutation in the orthologous gene has been recently isolated and reported to lead to early lethality. This thesis characterises the development of the retinal phenotype observed in homozygous chm zebrafi

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26

Carloni, C. "MOLECULAR BASIS OF THE DEMYELINATING DISEASES." Doctoral thesis, Università degli Studi di Milano, 2013. http://hdl.handle.net/2434/217440.

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La sclerosi multipla (SM) è una patologia demielinizzante caratterizzata da neuro-degenerazione progressiva e causata da una risposta autoimmunitaria diretta contro auto-antigeni dell’organismo che si manifesta in soggetti geneticamente predisposti. Le terapie ad oggi disponibili riducono la severità e l’incidenza degli attacchi, così da prevenire le ricadute e prevenire o ritardare la progressione della malattia. Recentemente, in aggiunta alle terapie immunomodulanti basate sulla somministrazione di Interferone-β, Glatimer Acetato o Mitoxantrone, è stato introdotto il farmaco natalizumab (Tys

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27

Rodríguez, Torrecillas Ivan 1979. "Molecular basis to human P-glycoprotein reversion." Doctoral thesis, Universitat Pompeu Fabra, 2015. http://hdl.handle.net/10803/586099.

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ABC (ATP-binding cassette) transporters are involved in translocate a wide spectrum of molecules across the lipid bilayer and some of them are associated with various diseases. They also have an important role in multidrug resistance (MDR) in cancer, which has been a major obstacle in cancer chemotherapy and in the treatment of leishmaniasis. While diverse transporters may confer MDR phenotype in bacteria, in human it is mainly achieved by five ABC proteins, among them P-glycoprotein/(ABCB1). To understand the structural basis of P-gp inhibitory activity, to determine the ligand bindi

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28

Koziell, A. B. "The molecular basis of childhood nephrotic syndrome." Thesis, University College London (University of London), 2007. http://discovery.ucl.ac.uk/1445264/.

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Childhood nephrotic syndrome results from massive leakage of protein into the urine, a low plasma albumin and oedema. Disease may be kidney-specific, occur as part of a malformation syndrome, or may complicate systemic diseases such as diabetes mellitus. Despite the apparent heterogeneity, the underlying defect is loss of the normal permselective characteristics of the glomerular filtration barrier (GFB). Clues for a molecular basis came from observation of occasional autosomal dominant or recessive inheritance, and the detection of WT1 mutations in Denys Drash syndrome (DDS), a triad of inter

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29

Chamberlain, Nicola Louise. "The Molecular Basis of Heliconius Wing Patterns." Thesis, University of Exeter, 2007. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.487470.

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Butterfly wing patterns have been a subject ofscientific research for well over a century. More recently they have become a prominent system for the study ofthe developmental and genetic processes which underlie morphological variation and evolution. The neotropical butterfly genus Helicon ius is at the centre ofthis research. In this genus, past research has revealed that the colour patterns ofthese butterflies, which are selected for maintenance ofmimicry (Mallet and Barton, 1989) and by mate preference (Jiggins et aI, 2001), are controlled by relatively few loci (Sheppard et aI, 1985; Naisb

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30

Hilton, John Frederick. "The molecular basis of glutamate formiminotransferase deficiency /." Thesis, McGill University, 2001. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=33776.

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Glutamate formiminotransferase deficiency (OMIM 229100) is an autosomal recessive disorder marked by clinical heterogeneity. The severe phenotype, first identified in patients of Japanese descent, includes high levels of formiminoglutamate (FIGLU) in the urine in response to histidine loading, megaloblastic anemia, and mental retardation. The mild phenotype is marked by high levels of FIGLU in the urine in the absence of histidine loading, mild developmental delay and no hematological abnormalities. The gene for human glutamate formiminotransferase-cyclodeaminase consists of 15 exons and is lo

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31

Knight, Trudy Lynn. "The molecular basis of halothane-induced hepatotoxicity." Thesis, Imperial College London, 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.321782.

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32

JovanovicÌ, Jelena. "Molecular basis of fibrillin-1 / integrin interactions." Thesis, University of Oxford, 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.420448.

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33

Ratnavel, Ravi C. "The molecular basis of inherited palmoplantar keratoderma." Thesis, University of Oxford, 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.361890.

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34

von, Ruhland Christopher John. "The molecular basis of modern marker chemistry." Thesis, Cardiff University, 2011. http://orca.cf.ac.uk/22318/.

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This thesis focuses on empirical investigations and refinements of immunohistochemical marker chemistry to gain insights into the design of novel markers for light and electron microscopy. In Chapter 2, incorporation of d-block metals into polymerised biphenyl-3,3′,4,4′-tetramine (polyDAB) identified complexes of Ni(II), Pt(II), Pt(IV) and Au(III) to be powerful catalysts of silver reduction from physical developers. Na2S(aq) treatment increased the range and activity of catalytic complexes, allowing previously invisible immunohistochemical deposits of polyDAB to be clearly seen in diagnostica

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35

Burton, Mark James. "Molecular basis of pyrethroid sensitivity and resistance." Thesis, University of Nottingham, 2012. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.597112.

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Pyrethroid insecticides remain one of the most widely used classes of insecticides yet resistance threatens their effective continued use. Recently efforts have been applied to understand the genetics and physiology of known mechanisms of resistance. Key mutations of the insect voltage gated sodium channel, such as L1014F, have been implicated in conferring resistance in a number of pest insect species. Two other substitutions of the Ll014 locus have also been reported in the field, l1014S and l1014H. In this study L1014 modified Drosophila para VGSCs were expressed in Xenopus oocytes and thei

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36

Lynch, Cian J. "Investigating the molecular basis for p53 haploinsufficiency." Thesis, University of York, 2007. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.485727.

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A haploid genotype may be insufficient to support nonnal wild-type function. Such haplo-insufficiency has recently been documented for sevefill tumour suppressor genes. p53 is a crucial tumour suppressor orchestrating DNA repair, cell cycle arrest and apoptosis via its role as a stress-responsive transcription factor. p53 haploinsufficiency is observed in vivo with Li-Fraumeni Syndrome (LFS), a human familial cancer predisposition arising from inheritance of a gennline mutation in one p53 allele.Ã‚Â· p53 haploinsufficiency has been replicated wi~ p53-knockout cell- and mouse-models of LFS, whe

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37

Homer, Vivienne M. "The molecular basis of hypofibrinogenaemia and dysfibrinogenaemia." Thesis, University of Canterbury. Zoology, 2004. http://hdl.handle.net/10092/6794.

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Three novel fibrinogen variants were identified and characterised in conjunction with the further investigation of three cases with previously identified mutations. Fibrinogen Avon (p.BβGly290fsX308) was identified in a patient with hypofibrinogenaemia, with no clinical symptoms of a bleeding or thrombotic tendency. The mutation is predicted to cause read through into intron six, where a premature stop codon is encountered after the incorporation of 18 new residues. The translated Bβ chain would be 33% smaller than the normal Bβ chain, and would be missing most of the D domain, from the distal

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38

Grose, Richard Philip. "The molecular basis of embryonic wound repair." Thesis, University College London (University of London), 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.322259.

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39

Boardman, Kieren David Edward. "The molecular basis of SjoÌˆgren-Larsson syndrome". Thesis, University of Bath, 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.438891.

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40

Campbell, Louise. "The molecular basis of spinal muscular atrophy." Thesis, Open University, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.363969.

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41

Sosa-Alvarado, Brian A. (Brian Alexander). "The molecular basis of LINC complex formation." Thesis, Massachusetts Institute of Technology, 2013. http://hdl.handle.net/1721.1/87465.

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Thesis: Ph. D., Massachusetts Institute of Technology, Department of Biology, February 2014.<br>Cataloged from PDF version of thesis. "December 2013."<br>Includes bibliographical references.<br>The nucleus is the hallmark of the eukaryotic cell. It contains most of the genetic material and it separates the processes of replication and transcription from that of translation. Communication between the nucleus and the cytoplasm occurs mostly through openings in the nuclear envelope composed of nuclear pore complexes. These massive assemblies allow for regulated transport of macromolecules across

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42

Charles, David. "The molecular basis of flowering time regulation." Thesis, Imperial College London, 2013. http://hdl.handle.net/10044/1/29371.

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Flowering is controlled by a series of signals integrated to regulate gene expression and coordinate development. The flowering hormone FLOWERING LOCUS T (FT) positively regulates flowering while the highly homologous TERMINAL FLOWERING 1 (TFL1) negatively regulates flowering. FT is recruited to the promoter in a complex with FD, a transcription factor belonging to the bZIP family, and 14-3-3. This complex is called flowering activating complex (FAC). Here TFL1 is shown to form a complex with 14-3-3 proteins and FD that has striking similarity to the FAC. By probing the extended loop of TFL1 a

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43

Sinha, Abhinav. "Molecular basis of gametocytogenesis in malaria parasites." Thesis, University of Glasgow, 2014. http://theses.gla.ac.uk/5580/.

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Malaria, a parasitic disease caused by five species of the protozoan parasite Plasmodium, still kills an estimated 0.6 million people each year, almost all in the third world African countries. With renewed emphasis on global eradication of malaria, genome-based discovery of novel anti-transmission candidates has been identified as one of the priority research areas for the immediate future. The aim of this study was to exploit the benefits of a combination of classical forward/reverse genetics approaches, flow cytometry and high throughput whole genome sequencing to examine the molecular basi

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44

Lawrie, Charles Henderson. "The molecular basis of tick-host interactions." Thesis, University of Oxford, 1999. http://ora.ox.ac.uk/objects/uuid:0a920ddd-c623-49a6-b971-cb6049b419e3.

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Ticks are obligate haematophagous arthropods that represent a major economic drain upon the world's livestock as well being a significant medical and veterinary risk through the transmission of tick-borne pathogens such as Borrelia burgdorferi, the causative agent of Lyme disease. The tick-host relationship is a function of both ecological and physiological factors. Successful feeding requires the effective acquisition and digestion of a bloodmeal by the tick. Acquisition relies upon the ability of the tick to counteract host immune responses induced by the extended feeding periods of ixodid t

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45

Painter, Kimberley Louise. "The molecular basis of persistent staphylococcal bacteraemia." Thesis, Imperial College London, 2016. http://hdl.handle.net/10044/1/42880.

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In Staphylococcus aureus, the accessory gene regulator (Agr) system controls the expression of toxins that damage the host. Agr is required for bacterial survival in a range of animal infection models, although its role during bacteraemia is poorly understood. Agr is also important for survival of S. aureus in the presence of neutrophils in vitro, but there is paradoxical clinical evidence that loss of Agr (either via agr mutations or mutations that result in the small colony variant [SCV] phenotype) promotes bacterial survival during bacteraemia. Therefore, the aim of this thesis was to decip

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46

Sharp, Colin Peter. "The molecular basis of malignant catarrhal fever." Thesis, University of Edinburgh, 2007. http://hdl.handle.net/1842/29991.

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Alcelaphine herpesvirus-1 (A1HV-1) is gammaherpesvirus that can cause the devastating, fatal disease malignant catarrhal fever (MCF) in susceptible ruminant hosts but not in its natural host the blue wildebeest. The purpose of this study is to characterise four unique open reading frames (ORFs) of A1HV-1 and examine their contribution to viral pathogenesis. These ORFs are located at the left hand end of the genome, a region known to contain unique transforming and immunomodulatory genes in other gammaherpesviruses, and are predicted to encode two small gene products with no significant homolog

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47

Brady, Jacob Peter. "The molecular basis for ER tubule formation." Thesis, University of Oxford, 2015. http://ora.ox.ac.uk/objects/uuid:fb5ce78d-0bc8-46dd-9552-04f1f1ec1d0f.

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Integral membrane proteins of the DP1 and reticulon families are responsible for maintaining the high membrane curvature required for both smooth ER tubules and the edges of ER sheets. Mutations in these proteins lead to motor neurone diseases such as hereditary spastic paraplegia. Reticulon/DP1 proteins contain Reticulon Homology Domains (RHD) that have unusually long (≈30 aa) hydrophobic segments and are proposed to adopt intramembrane helical hairpins that stabilise membrane curvature. I have uncovered the secondary structure and dynamics of the DP1 protein Yop1p and identified a C-te

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48

Zang, Lun-Yi. "Molecular basis of MPTP-induced Parkinson's disease." Diss., This resource online, 1993. http://scholar.lib.vt.edu/theses/available/etd-01242009-063037/.

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Ver, Heul Aaron Martin. "Molecular basis of Nod1 And Nod2 signaling." Diss., University of Iowa, 2013. https://ir.uiowa.edu/etd/4784.

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NOD1 and NOD2 (nucleotide-binding oligomerization domain-containing proteins 1 and 2) are related innate immune receptors responsible for initiating a response to bacterial infection. They belong to a class of receptors known as Pattern Recognition Receptors (PRRs), which are germline encoded immune receptors that mediate various innate immune responses. These receptors recognize conserved microbial motifs known as Pathogen-Associated Molecular Patterns (PAMPs). The PRR-PAMP paradigm forms the bedrock of how innate immunity is understood today. As two of the first intracellular PRRs discovered

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Vargas, Parra Gardenía María. "Elucidating the molecular basis of Lynch-Like syndrome." Doctoral thesis, Universitat de Barcelona, 2016. http://hdl.handle.net/10803/386467.

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BACKGROUND: MMR deficiency is a hallmark of tumors from Lynch syndrome LS) patients, who harbor germline mutations in MMR genes. No germline alterations are detected in a significant proportion of suspected LS now known as Lynch-like syndrome (LLS) cases. HYPOTHESIS: In LS-suspected patients there may be other responsible causes for the MMR-deficiency in tumors, such as unidentified germline mutations or epimutations in MMR genes, or mutations in other CRC-associated genes (germline or somatic). AIMS: To elucidate the molecular basis of MMR deficiency in LS-suspected cases without identifi

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