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Dissertations / Theses on the topic 'Cystic fibrosis Gene therapy'

Author: Grafiati

Published: 4 June 2021

Last updated: 11 February 2022

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1

Davies, Gwyneth. "Outcome measures for cystic fibrosis gene therapy clinical trials." Thesis, Imperial College London, 2013. http://hdl.handle.net/10044/1/28414.

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Background: Cystic fibrosis (CF) is a life-shortening, chronic respiratory disease caused by mutations in the CFTR gene. Novel therapeutic agents such as gene therapy aim to correct CFTR and to demonstrate evidence of molecular, functional and (ultimately) clinical efficacy. It was hypothesised that currently used methods to detect these changes may be optimised to enhance sensitivity and allow quantification, and facilitate an understanding of geographical effects within the airway. Methods: Outcome measures were investigated within two UK CF Gene Therapy Consortium studies; a longitudinal ob

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2

Rose, Andrew C. "Studies on the expression of the murine CFTR gene : implications for gene therapy." Thesis, University of Oxford, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.365354.

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3

Dragomir, Anca. "Approaches to Pharmacological Treatment and Gene Therapy of Cystic Fibrosis." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Univ.-bibl. [distributör], 2004. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-3845.

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4

McKay, Tristan Rowntree. "Investigations toward gene therapy for hepatobiliary disease in cystic fibrosis." Thesis, Imperial College London, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.392184.

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5

Cooney, Ashley L. "Integrating viral vectors as a gene therapy approach for cystic fibrosis." Diss., University of Iowa, 2018. https://ir.uiowa.edu/etd/6083.

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Cystic fibrosis (CF) is the most common autosomal recessive genetic disease in Caucasian populations. CF affects multiple organ systems including pancreas, liver, intestines, sweat glands, and male reproductive organs, however the leading cause of morbidity and mortality in CF patients is chronic lung disease. CF is caused by a mutant cystic fibrosis transmembrane conductance regulator (CFTR) gene which leads to chloride (Cl-) and bicarbonate (HCO3-) anion dysregulation at the airway surface. Withou

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6

Scott, Emily Siân. "Improving the efficiency of liposome-mediated gene transfer for cystic fibrosis gene therapy." Thesis, University of Cambridge, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.624332.

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7

Jannetta, Evelyn Elena. "Qualitative study of cystic fibrosis (CF) patients' expectations of gene therapy." Thesis, University of Edinburgh, 2009. http://hdl.handle.net/1842/8745.

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Introduction: Gene therapy is currently being developed for people with cystic fibrosis (CF), a life-threatening condition for which there is no cure. The UK CF Gene Therapy Consortium are preparing for a multi-dose gene therapy trial of sufficient duration that clinical benefit may be seen. Aims: The current study aimed to explore the expectations and beliefs of cystic fibrosis (CF) patients involved in the preparatory phase of the gene therapy trial (the Run-in study), from which participants will be selected for the multi-dose actual gene therapy trial. Method: Twelve participants (six with

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8

Jaffe, Adam. "Assessment and feasibility of gene therapy for cystic fibrosis in children." Thesis, Imperial College London, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.589769.

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9

Middleton, Peter Gordon. "Cystic fibrosis ion transport and the effect of CFTR gene transfer." Thesis, Imperial College London, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.307399.

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10

Kwilas, Anna R. "Respiratory Syncytial Virus Based Vectors for the Treatment of Cystic Fibrosis." The Ohio State University, 2010. http://rave.ohiolink.edu/etdc/view?acc_num=osu1284384649.

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11

Ramachandran, Shyam. "Regulation Of gene expression in cystic fibrosis: implications for biology and therapeutics." Diss., University of Iowa, 2012. https://ir.uiowa.edu/etd/2613.

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Cystic fibrosis transmembrane conductance regulator (CFTR) is an anion channel that when mutated causes the disease cystic fibrosis (CF). Many obstacles hinder the understanding of CF disease pathogenesis, impeding advancements in understanding how mutations cause disease, and slowing the progress towards new treatments. To this end, we have profiled the transcriptome (mRNA and microRNA) of human and newborn pig CF and non-CF airway epithelia. We show that the use of cross-species transcriptomics allows the identification

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12

Bergau, Anna. "Developing vectors for cystic fibrosis gene therapy : improving the longevity and tissue specificity of gene expression." Thesis, Imperial College London, 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.424514.

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13

Steines, Benjamin Richard. "Investigation and application of novel adeno-associated viral vectors for cystic fibrosis gene therapy." Diss., University of Iowa, 2015. https://ir.uiowa.edu/etd/1763.

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Cystic Fibrosis (CF) is a lethal autosomal recessive genetic disorder caused by mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CFTR transports anions at the apical surface of epithelial membranes and functions in many areas of the body. However in CF, loss of CFTR function in the lungs is the major source of morbidity and mortality. Replacing the defective CFTR in the lungs through gene therapy has the potential to cure the disease. Recombinant adeno-associated virus (AAV) is an effective gene transfer vector and has been used extensively to deliver genes to

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14

Davies, Lee. "The electrical manipulation of bio-formulations for delivery to the lung." Thesis, University of Oxford, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.365799.

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15

Semir, Frappart David de. "Reparación de mutaciones en el gent CFTR como estrategia de terapia génica para la fibrosis quística." Doctoral thesis, Universitat Pompeu Fabra, 2005. http://hdl.handle.net/10803/7084.

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La fibrosis quística (fq) es la enfermedad autosómica recesiva más frecuente en la población caucasoide con una frecuencia de portadores de 1/25. Las manifestaciones clínicas más importantes son las infecciones crónicas recurrentes del pulmón conllevando al deterioro del mismo. En esta tesis nos propusimos corregir dos mutaciones en el gen cftr, responsable de la fq, en la linea celular de epitelio bronquial ib3.1 de genotipo (f508del/w1282x). Para ello, mediante citometría de flujo y microscopía confocal pusimos a punto la incorporación no viral (vectores pei, geneporter y citofectina) de oli

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16

Limberis, Maria. "A lentiviral gene transfer vector for the treatment of cystic fibrosis airway disease." Title page, synopsis and list of contents only, 2002. http://web4.library.adelaide.edu.au/theses/09PH/09phl735.pdf.

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"16th September 2002." Accompanying CD contains 2 MPEG clips with accompanying text, and a copy in PDF format of: Recovery of airway cystic fibrosis transmembrane conductance regulator function in mice with cystic fibrosis after single-dose lentivirus-mediated gene transfer / M. Limberis ... [et al.], published in Human gene therapy vol. 13 (2002). Bibliography: leaves xxix-li. This thesis focuses on modulating the physical barriers of the airway epithelium with mild detergents, so as to enhance gene transfer by a HIV-1 based lentivirus vector in vivo. The efficiency of the gene transfer was

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17

Walker, Wendilywn E. "Towards gene therapy for cystic fibrosis : enhanced green fluorescent protein as a reporter of promoter activity." Thesis, University of Edinburgh, 2005. http://hdl.handle.net/1842/27597.

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The aim of this project was to investigate the use of the Enhanced Green Fluorescent Protein (EGFP) as a reporter of CFTR promoter activity. six vectors were created coupling portions of the CFTR locus to EGFP in GCVs. Small plasmids were made by conventional cloning procedures, while large PAC vectors were made by a double recombination method employing both homologous and Cre recombinase/loxP recombination. These vectors were transfected into permanent cell lines COS7, MDCK-iowa, T84 and CaCO2, in order to assess the effects of the genomic context elements upon EGFP. The proximal CFTR 5’ reg

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18

Waller, Michael David. "The behaviour of the cystic fibrosis respiratory epithelium and its response to multidose CFTR gene therapy." Thesis, Imperial College London, 2016. http://hdl.handle.net/10044/1/41881.

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Cystic fibrosis (CF) is a clinical syndrome resulting from inherited mutations to the cystic fibrosis transmembrane conductance regulator (CFTR) protein, whose absent or reduced function results in abnormal epithelial ion transport and an abnormal transepithelial potential difference (PD), leading to downstream epithelial dysfunction and a pathognomonic clinical phenotype. Most treatments to date manage the disease sequelae of airway mucus and infection, but correction of the underlying defect for all patients is the ultimate aim. Gene therapy offers the potential as a universal treatment to a

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19

Ghosh, Arkasubhra. "Rational design of split gene vectors to expand the packaging capacity of adeno-associated viral vectors." Diss., Columbia, Mo. : University of Missouri-Columbia, 2007. http://hdl.handle.net/10355/4712.

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Thesis (Ph. D.)--University of Missouri-Columbia, 2007.<br>The entire dissertation/thesis text is included in the research.pdf file; the official abstract appears in the short.pdf file (which also appears in the research.pdf); a non-technical general description, or public abstract, appears in the public.pdf file. Vita. "December 2007" Includes bibliographical references.

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20

Buckley, Suzane Mary Kirstie. "An investigation into prenatal gene therapy for cystic fibrosis using intra-amniotic vector application to mouse models." Thesis, Imperial College London, 2004. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.408131.

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21

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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22

Grzybowski, Brad. "A pseudotyped viral vector : hPIV3-HIV-1." Thesis, Georgia Institute of Technology, 2003. http://hdl.handle.net/1853/20932.

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23

Davies, Michael Gordon. "The development of end-point assays to assess the safety and efficacy of intra-pulmonary gene therapy in cystic fibrosis." Thesis, Imperial College London, 2009. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.520985.

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24

Dickey, David Derrick. "Strategies for improving adeno-associated viral infection of airway epithelial cells." Diss., University of Iowa, 2012. https://ir.uiowa.edu/etd/2858.

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Cystic fibrosis (CF) is a lethal autosomal recessive genetic disease caused by mutations in a single gene, the cystic fibrosis transmembrane conductance regulator (CFTR). CF affects multiple organ systems, but the major cause of morbidity and mortality is due to disease in the lungs. In theory, using gene therapy to deliver a correct copy of CFTR to the cells of the airway epithelium could result in a lifelong cure. Adeno-associated virus (AAV) is a single stranded DNA virus that is a promising candidate vector for gene therapy of multiple diseases, and numerous clinical trials are currently u

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25

Chen, Xuguang. "Cellular Uptake of DNA Nanoparticles and Regulation of Cell Surface Nucleolin." Case Western Reserve University School of Graduate Studies / OhioLINK, 2009. http://rave.ohiolink.edu/etdc/view?acc_num=case1244145515.

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26

Smith, David L. "Nocturnal hypoxaemia in cystic fibrosis." Thesis, University of Southampton, 1994. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.296267.

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27

Utley, Courtney, and Kristen L. McHenry. "Advances in Cystic Fibrosis." Digital Commons @ East Tennessee State University, 2016. https://dc.etsu.edu/etsu-works/2546.

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The purpose of this review was to identify the history of and advances in cystic fibrosis (CF). New treatment plans, medication developments, and a historical perspective of airway clearance therapy (ACT) will be presented. The importance of treatment compliance and time management in the care of cystic fibrosis patients will also be discussed. Furthermore, the development of cystic fibrosis clinics and the pivotal role they play in the treatment of the disease will be addressed. Lastly, a brief discussion concerning the need for and process of lung transplantation will be reported.

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28

Desgrandchamps, Daniel. "Antimicrobial therapy of Pseudomonas pulmonary exacerbations in cystic fibrosis /." [S.l : s.n.], 1986. http://www.ub.unibe.ch/content/bibliotheken_sammlungen/sondersammlungen/dissen_bestellformular/index_ger.html.

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29

Brouqueyre, Laurent. "Hydro-acoustic therapy : design, construction and testing." Thesis, Georgia Institute of Technology, 1999. http://hdl.handle.net/1853/18215.

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30

Adair, Jeanette. "Alternate channel therapy for the pancreatic disease of Cystic Fibrosis." Thesis, University of Newcastle Upon Tyne, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.251005.

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31

Smitley, Veronica Rose. "The Voice and Cystic Fibrosis: A Descriptive Case Study." Cleveland State University / OhioLINK, 2016. http://rave.ohiolink.edu/etdc/view?acc_num=csu1463089613.

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32

Hill, Alison Jane Margaret. "Mutation analysis and automated sequencing of the CFTR gene." Thesis, Queen's University Belfast, 1994. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.282187.

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33

Broakes-Carter, Fiona. "The developmental regulation of expression of the ovine CFTR gene." Thesis, University of Oxford, 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.269950.

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34

Nuthall, Hugh. "Analysis of DNase I hypersensitive sites in the CFTR gene." Thesis, University of Oxford, 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.298724.

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35

Hughes, David J. "Mutation characterisation and microsatellite haplotype analysis of the CFTR gene." Thesis, Queen's University Belfast, 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.361278.

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36

Hadd, Wendi. "Genetics and the social body, testing for the cystic fibrosis gene." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1999. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape9/PQDD_0025/NQ47617.pdf.

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37

Hadd, Wendy. "Genetics and the (social) body testing for the cystic fibrosis gene /." [Montréal] : Université de Montréal, 1998. http://wwwlib.umi.com/dissertations/fullcit/NQ47617.

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Thèse (Ph. D.)--Université de Montréal, 1999.<br>"Thèse présentée à la Faculté des études supérieures en vue de l'obtention du grade de Philosophiae Doctor (Ph. D.) [sociologie]." Version électronique également disponible sur Internet.

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38

GARCIA-FONKNECHTEN, NORIA. "Etude des transcrits du gene cftr. (cystic fibrosis transmembrane conductance regulator)." Paris 7, 1993. http://www.theses.fr/1993PA077156.

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Le gene cftr (cystic fibrosis transmembrane conductance regulator), constitue de 27 exons repartis sur 250 kb et dont l'alteration est responsable de la mucoviscidose, est essentiellement exprime dans les epitheliums respiratoires et digestifs. Cette expression est indetectable par northern-blot dans des cellules facilement accessibles comme les lymphocytes. Cependant, par la technique d'amplification de l'adnc par nested-pcr, nous avons mis en evidence et quantifie les transcrits cftr dans les lymphoblastes (transcription illegitime). Bien qu'ils soient en tres faible quantite, par cette meth

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39

Basalla, Joseph. "Identifying biosynthetic gene clusters whose products inhibit cystic fibrosis derived pathogens." Bowling Green State University / OhioLINK, 2018. http://rave.ohiolink.edu/etdc/view?acc_num=bgsu1530795688583696.

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40

Moulin, Danielle S. "Regulation of expression of the CFTR gene." Thesis, University of Oxford, 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.298347.

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41

Hull, Jeremy. "Mutation analysis and screening in the cystic fibrosis transmembrane conductance regulator gene." Thesis, University of Oxford, 1994. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.260734.

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42

Kimber, Wendy Louise. "Gene targeting in the mouse : introducing specific mutations associated with cystic fibrosis." Thesis, University of Edinburgh, 1995. http://hdl.handle.net/1842/20609.

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This thesis describes an attempt to create mouse models for CF bearing precise, CF-associated mutations as the only alteration to the murine <I>Cftr</I> gene, through use of the 'Hit and Run' gene targeting technique in mouse embryonal stem (ES) cells. This involves an initial targeting step in which an insertional targeting vector bearing the mutation to be introduced integrates through homologous recombination into <I>Cftr</I>. A negative selection then follows, enriching for those cells which have subsequently excised the vector and either reverted to the wild type genotype, or been convert

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43

Saferali, Aabida. "Genetic association and gene expression analysis of inflammatory genes in cystic fibrosis." Thesis, University of British Columbia, 2016. http://hdl.handle.net/2429/59277.

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Cystic fibrosis (CF) is characterized by a progressive decline in lung function due to airway obstruction, infection, and inflammation. CF patients are particularly susceptible to respiratory infection by a variety of pathogens, and the inflammatory response in CF is dysregulated and prolonged. This thesis identifies and characterizes BPI fold containing family A, member 1 (BPIFA1) and BPIFB1 as putative anti-inflammatory molecules in CF, and explores the CF inflammatory response to rhinovirus infection. BPIFA1 and BPIFB1 are proposed innate immune molecules expressed in the upper airways.

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44

Sheldon, Christopher David. "The effects of antibiotic therapy on Pseudomonas aeruginosa in adults with cystic fibrosis." Thesis, University of Southampton, 1992. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.387001.

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45

Gziut, Marta. "Investigating copper chelation with tobramycin as an anti-inflammatory therapy in cystic fibrosis." Thesis, University of Portsmouth, 2012. https://researchportal.port.ac.uk/portal/en/theses/investigating-copper-chelation-with-tobramycin-as-an-antiinflammatory-therapy-in-cystic-fibrosis(15d77cd6-686f-4e22-bcd5-83e9394c6229).html.

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Excessive neutrophilic inflammation of the airways in response to infection is characteristic for patients with CF. There is also an important but not fully understood role for platelets. Previous studies established increased copper levels in the circulation and in the sputum in CF. Inhaled tobramycin was suggested to have an anti-inflammatory effect beyond eradicating Pseudomonas aeruginosa. This study tested the hypothesis that tobramycin has anti-inflammatory and anti-oxidant efficacy due to its ability to bind copper into a copper-tobramycin complex. A copper-tobramycin complex was synthe

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46

Smith, Emily M. "The Three-Dimensional Structure of the Cystic Fibrosis Locus: A Dissertation." eScholarship@UMMS, 2011. http://escholarship.umassmed.edu/gsbs_diss/744.

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The three dimensional structure of the human genome is known to play a critical role in gene function and expression. I used chromosome conformation capture (3C) and 3C-carbon copy (5C) techniques to investigate the three-dimensional structure of the cystic fibrosis transmembrane conductance regulator (CFTR) locus. This is an important disease gene that, when mutated, causes cystic fibrosis. 3C experiments identified four distinct looping elements that contact the CFTR gene promoter only in CFTR-expressing cells. Using 5C, I expanded the region of study to a 2.8 Mb region surrounding the CFTR

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47

Smith, Emily M. "The Three-Dimensional Structure of the Cystic Fibrosis Locus: A Dissertation." eScholarship@UMMS, 2014. https://escholarship.umassmed.edu/gsbs_diss/744.

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The three dimensional structure of the human genome is known to play a critical role in gene function and expression. I used chromosome conformation capture (3C) and 3C-carbon copy (5C) techniques to investigate the three-dimensional structure of the cystic fibrosis transmembrane conductance regulator (CFTR) locus. This is an important disease gene that, when mutated, causes cystic fibrosis. 3C experiments identified four distinct looping elements that contact the CFTR gene promoter only in CFTR-expressing cells. Using 5C, I expanded the region of study to a 2.8 Mb region surrounding the CFTR

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48

Terrell, Andrew S. "The effect of hydro-acoustic therapy on sputum production in patients with cystic fibrosis." Thesis, Georgia Institute of Technology, 2000. http://hdl.handle.net/1853/17076.

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49

Alteirac, Laurent N. "Clinical trial of hydro-acoustic therapy and conception of a second-generation hydro-acoustic chamber." Thesis, Georgia Institute of Technology, 2001. http://hdl.handle.net/1853/19659.

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50

Rowntree, Rebecca Kate. "Regulation of expression of the human cystic fibrosis transmembrane conductance regulator (CFTR) gene." Thesis, University of Oxford, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.393265.

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