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Rozprawy doktorskie na temat „Genetic screening”

Autor: Grafiati

Data publikacji: 4 czerwca 2021

Data aktualizacji: 25 lipca 2025

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1

Blaauw, Sonja. "SNP screening and validation in Haliotis midae." Thesis, Stellenbosch : Stellenbosch University, 2012. http://hdl.handle.net/10019.1/19976.

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Thesis (MSc)--Stellenbosch University, 2012.<br>ENGLISH ABSTRACT: Haliotis midae (commonly referred to as perlemoen) is the only one of five endemic species in South Africa that is commercially valued both locally and internationally. Unfortunately, natural perlemoen populations have become a dwindling resource due to commercial exploitation, poaching and the influx of natural threats, such as the West Coast rock lobster, Jasus lalandii. To preserve the natural diversity and sustainability of natural populations as well as commercial stocks, genetic management and improvement of perlemoe

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Moye, William Andrew. "Cost-effectiveness Analysis of Preimplantation Genetic Screening." ScholarWorks, 2018. https://scholarworks.waldenu.edu/dissertations/4806.

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In vitro fertilization (IVF) is used to help infertile couples achieve a live birth. Clinical studies have suggested that multiple, consecutive cycles of IVF can increase live birth rate significantly. Others have documented improved live birth rates from the use of new laboratory techniques for preimplantation genetic screening (PGS). This genetic screening technique seeks to determine the ploidy of the embryo prior to implantation into the woman. To date, no study has examined the cost-effectiveness of using IVF in conjunction with PGS compared to that of IVF alone for 3 consecutive cycles i

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3

Hoek, Kim G. P. "Mutation screening of pre-eclampsia candidate genes, LEP (ob) and LEPR (obR)." Thesis, Stellenbosch : University of Stellenbosch, 2006. http://hdl.handle.net/10019.1/2834.

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Thesis (MSc (Genetics))--University of Stellenbosch, 2006.<br>Pre-eclampsia is a multisystemic disorder with an incidence of ~6-8% in non-Caucasian women in the Western Cape. Trophoblast invasion is vital for adequate anchorage of the placenta to the uterine wall as well as for the optimisation of utero-placental blood flow in uncomplicated pregnancies. This process is facilitated by the fetal trophoblast cells that digest the extracellular matrix of the uterus by secreting various molecules, including the metalloproteinases (MMP), of which MMP-9 has an increased production during the first tr

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Evans, Mark Francis. "Molecular genetic analysis of cervical dysplasia." Thesis, University of Hertfordshire, 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.338560.

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Heilbronn, Leonie Kaye. "Gene/environment interactions in human obesity." Title page, table of contents and summary only, 2001. http://web4.library.adelaide.edu.au/theses/09PH/09phh466.pdf.

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Melley, Caitlin. "Surgical fetal intervention assessing the current practices of genetic counselors /." Waltham, Mass. : Brandeis University, 2009. http://dcoll.brandeis.edu/handle/10192/23321.

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Duncan, Rony Emily. "Holding your breath : predictive genetic testing in young people /." Connect to thesis, 2005. http://eprints.unimelb.edu.au/archive/00001621.

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Dubé, Nicholas Larsen Andrew. "Enhanced genetic screening plan for the B.C. molecular genetics laboratory : a five year business plan /." Burnaby B.C. : Simon Fraser University, 2007. http://ir.lib.sfu.ca/handle/1892/9369.

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Research Project (M.B.A.) - Simon Fraser University, 2007.<br>Theses (Faculty of Business Administration) / Simon Fraser University. Senior supervisor: Dr. Aidan Vining -- Faculty of Business Administration. MBA-MOT Program. Also issued in digital format and available on the World Wide Web.

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9

Glass, Jennifer Elaine. "CURRENT PRACTICES OF PEDIATRICIANS REGARDING SCREENING FOR METABOLIC DISORDERS AMONG INTERNATIONALLY ADOPTED CHILDREN." Case Western Reserve University School of Graduate Studies / OhioLINK, 2009. http://rave.ohiolink.edu/etdc/view?acc_num=case1244084138.

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10

Calore, Chiara. "Genotype-phenotype correlations and genetic family screening in hypertrophic cardiomyopathy." Doctoral thesis, Università degli studi di Padova, 2011. http://hdl.handle.net/11577/3421680.

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Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease. Clinical presentation is heterogeneous, outcome ranging from benign asymptomatic forms to more malignant expressions resulting in sudden or heart failure death. To date, more than 450 mutations have been reported in genes encoding sarcomeric proteins, proteins of the Z-disc, intercalated discs and in genes involved in cardiac metabolism. DNA testing is helpful for confirming diagnosis in ambiguous situations, can give some prognostic information and represents the gold standard for preclinical diagnosis in family

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11

Leiser, Kimberly A. "Assessing the association between the increased resolution of the signaturechip WG and the abnormality detection rate." Pullman, Wash. : Washington State University, 2009. http://www.dissertations.wsu.edu/Thesis/Spring2009/k_leiser_042709.pdf.

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Thesis (Master of Health Policy and Administration)--Washington State University, May 2009.<br>Title from PDF title page (viewed on June 5, 2009). "Department of Health Policy and Administration." Includes bibliographical references (p. 34-39).

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12

Morando, Carla. "Criticità dello screening uditivo neonatale: prospettive razionali dello screening genetico dell'ipoacusia." Doctoral thesis, Università degli studi di Padova, 2011. http://hdl.handle.net/11577/3421715.

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REVIEW OF UNIVERSAL NEWBORN HEARING SCREENING: RATIONAL PROSPECTS OF GENETIC SCREENING FOR DFNB1 RELATED DEAFNESS Introduction: Hearing loss (HL) is the most common human birth defect occuring in 1 to 3 per thousand infants. Recent evidence for a critical period for language acquisition promoted the adoption of Universal Newborn Hearing Screening (UNHS) in many countries. In Italy UNHS was first introduced in 1997; in 2002, some hospitals of Veneto region were involved in a pilot project on UNHS and now almost all hospital birth centers has adopted it. Concurrent with the enforcement of U

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13

Erard, Nicolas Pascal Jean. "Optimization of molecular tools for high-throughput genetic screening." Thesis, University of Cambridge, 2018. https://www.repository.cam.ac.uk/handle/1810/271895.

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Forward genetic screening allows for the identification of any genes important for a particular biological process or phenotype. While the power of this approach is broadly agreed on, the efficacy of currently available tools limits the strength of conclusions drawn from these experiments. This thesis describes a method to optimize molecular tools for high-throughput screening, both for shRNA and sgRNA based reagents. Using large shRNA efficacy datasets, we first designed an algorithm predicting the potency of shRNAs based on sequence determinants. Combined with a novel shRNA backbone that fur

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14

Mulhearn, Darcie Sinead. "Exploring genetic interactions with G-quadruplex structures." Thesis, University of Cambridge, 2019. https://www.repository.cam.ac.uk/handle/1810/287953.

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G-quadruplexes are non-canonical nucleic acid secondary structures of increasing biological and medicinal interest due to their proposed physiological functions in transcription, replication, translation and telomere biology. Aberrant G4 formation and stabilisation have been linked to genome instability, cancer and other diseases. However, the specific genes and pathways involved are largely unknown, and the work within this thesis aims to investigate this. Stabilisation of G4s by small molecules can perturb G4-mediated processes and initial studies suggest that this approach has chemotherapeu

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15

Gomes, Ana Rita Batista. "High-thoughtput reverse genetic screening in Plasmodium berghei using barcode sequencing." Thesis, University of Cambridge, 2015. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.708986.

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Lillie, Natasha. "Experiences of Adolescents and their Parents after Receiving Genomic Screening Results for the Adolescent." University of Cincinnati / OhioLINK, 2021. http://rave.ohiolink.edu/etdc/view?acc_num=ucin162326020995405.

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17

Chang, Juliana. "Genetic screening for novel mRNA localization factors in Drosophila melanogaster." Diss., [La Jolla] : University of California, San Diego, 2010. http://wwwlib.umi.com/cr/ucsd/fullcit?p1474753.

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Thesis (M.S.)--University of California, San Diego, 2010.<br>Title from first page of PDF file (viewed April 15, 2010). Available via ProQuest Digital Dissertations. Includes bibliographical references (p. 65-67).

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18

Green, Edward Wilhelm. "Genetic and bioinformatic screening for behavioural mutations in Drosophila melanogaster." Thesis, University of Leicester, 2010. http://hdl.handle.net/2381/8656.

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In the post-genomic era, the question of how genes give rise to the observable diversity of morphology, physiology, behaviour and disease susceptibility is becoming of one central importance. Even in a model system as well studied as the fruit fly Drosophila melanogaster, the function of the vast majority of genes, and the mechanisms by which they give rise to such diversity, remains unknown. Drosophila behaviour represents a sensitive system in which to evaluate novel methods of determining gene function. Traditionally the analysis of behavioural phenotypes has represented a time consuming, h

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19

Gresham, David J. "Genetic variation and disease in the Roma (Gypsies)." Thesis, Edith Cowan University, Research Online, Perth, Western Australia, 2001. https://ro.ecu.edu.au/theses/1516.

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The Roma (Gypsies) are a European people composed of a mosaic of culturally heterogeneous populations. Linguistic analyses point to their origins in the Indian subcontinent. Cultural diversity in extant Romani populations suggests that they are descended from a mixture of Indian populations. Previous population genetic studies of the Roma have supported this claim by demonstrating the genetic heterogeneity of Romani populations. More recently, medical genetic research has detected identical founder mutations in separated Romani populations, which provides evidence of their relatedness. In this

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20

Hedmark, Eva. "Conservation Genetics of Scandinavian Wolverines." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Universitetsbiblioteket [distributör], 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-6636.

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21

Peterson, Laiken E. "Parental beliefs and attitudes toward false positive newborn screening results for Krabbe disease: A qualitative study." The Ohio State University, 2019. http://rave.ohiolink.edu/etdc/view?acc_num=osu1554370391330618.

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22

Ng, Wai-tong, and 吳偉棠. "Early detection and screening of familial nasopharyngeal carcinoma." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2008. http://hub.hku.hk/bib/B41290720.

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23

馮敬業 and King-yip Fung. "Screening of recurrent BRCA gene mutations in Chinese breast and ovarian cancer." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2000. http://hub.hku.hk/bib/B31969720.

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24

Cardno, Tony Stuart, and n/a. "Development of a high throughput fluorescent screening assay for genetic recoding." University of Otago. Department of Biochemistry, 2007. http://adt.otago.ac.nz./public/adt-NZDU20071218.145806.

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The development of new drug therapies traditionally requires mass screening of thousands if not millions of substances to identify lead compounds. They are then further optimised to increase potency. The screening of the large pharmaceutical compound libraries can be incredibly expensive, with the industry responding by miniaturising the assays to smaller formats, enabling the compound screening to be automated and, importantly, eliminating assay reagents that are a major contributing cost for running large screens. A potential target for such an approach is the genetic recoding site of viru

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25

Hu, Chunxiao. "Microfluidic electrophysiological device for genetic and chemical biology screening of nematodes." Thesis, University of Southampton, 2013. https://eprints.soton.ac.uk/368250/.

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Genetic and chemical biology screens of C. elegans have been of enormous benefit in providing fundamental insight into neural function and neuroactive drugs. Recently the exploitation of microfluidic devices has added greater power to this experimental approach providing more discrete and higher throughput phenotypic analysis of neural systems. This repertoire is extended through the design of a semi-automated microfluidic device, NeuroChip, which has been optimised for selecting worms based on the electrophysiological features of the pharyngeal neural network. This device has the capability t

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26

Mennie, Moira E. "Prenatal genetic screening for cystic fibrosis carriers : implications for maternity care." Thesis, University of Edinburgh, 1995. http://hdl.handle.net/1842/20687.

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The psychological response of 64 women identified as CF carriers and their partners who received a negative test result were assessed together with selected controls on 4 further occasions: 10 on receiving the carrier's positive test result; 2) on receiving the partner's negative test result; 3) six weeks later; 4) six weeks after delivery. Knowledge of the genetics of CF and attitude to having been screened were measured by self-administered questionnaire. Compared to control subjects, carriers showed a significant increase in generalised psychological disturbance attributed specifically to s

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Lin, Kuan Chee Bevan. "Using the RISCI genetic screening platform for elucidating apoptosis signalling network." Thesis, Imperial College London, 2013. http://hdl.handle.net/10044/1/11662.

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Considerable development in the field of nanotechnology is increasingly yielding novel applications of nanoparticles. The unique properties of nanoparticles in particular their high aspect ratio (length : width ratio), however could pose potential risks to the user. A high throughput genetic screening platform, RISCI (robotic single cDNA investigation), was previously established for the systematic evaluation of single gene activities. Here, RISCI was utilised to identify pro-apoptotic genes as well as genes involved in the positive and negative regulation of silica nanoparticle-induced cell d

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28

Jacobs, Jane B. "The perceptions of self-help groups and health professionals on genetic screening: Implications for public health policy." Thesis, Queensland University of Technology, 2001. https://eprints.qut.edu.au/36760/1/36760_Digitised%20Thesis.pdf.

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On the 26th June 2000, the US President, Bill Clinton and the United Kingdom (UK) Prime Minister Tony Blair, announced in a joint satellite broadcast that the first working draft map of the human genome had been completed ahead of the 2003 schedule of the Human Genome Project (HGP). Less than a year later on the 12th February 2001, the full sequence of the human genome was made public on the Internet by the Human Genome Project team. The primary goal of the HGP is to acquire the fundamental information needed to further our basic scientific understanding of human genetics and the role various

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Bettin, Rebecca. "Motivations for sharing of genetic testing results and cardiac screening recommendations among a pediatric cardiomyopathy population." University of Cincinnati / OhioLINK, 2011. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1307126019.

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Lee, Sansan. "Genetic counseling perspectives on prenatal array CGH testing." Waltham, Mass. : Brandeis University, 2009. http://dcoll.brandeis.edu/handle/10192/23259.

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Boyd, Marie. "Evaluation of screening strategies for the detection of molecular pathologies." Thesis, University of Glasgow, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.295318.

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Ferlatte, Christy. "Patient preferences for an appropriate time for cancer genetic counseling and BRCA testing for women diagnosed with breast cancer." Waltham, Mass. : Brandeis University, 2009. http://dcoll.brandeis.edu/handle/10192/23193.

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Lew, Raelia Monique. "Tay Sachs Disease: Analysis Of Australian Screening Strategies (1995-2013)." Thesis, The University of Sydney, 2016. http://hdl.handle.net/2123/15703.

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Introduction: Tay Sachs Disease (TSD) is a fatal genetic disorder with autosomal recessive inheritance, occurring more frequently in Ashkenazi Jewish (AJ) populations. No cure or effective treatment exists. Carrier couples have a 1 in 4 risk that a baby will have TSD. The desire to prevent TSD inspired the first pre-conception genetic screening programs. The development of assisted reproductive technologies and pre-implantation genetic diagnosis of embryos has broadened reproductive options available for carrier-couples to avoid having a child with a serious genetic condition. Aim: My aims we

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Numa, Shogo. "EYS is a major gene involved in retinitis pigmentosa in Japan: Genetic landscapes revealed by stepwise genetic screening." Doctoral thesis, Kyoto University, 2021. http://hdl.handle.net/2433/263559.

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Zhu, Xianmin Elefant Felice. "The histone acetyltransferase Dmel\TIP60 Is essential for multicellular development in Drosophila /." Philadelphia, Pa. : Drexel University, 2007. http://hdl.handle.net/1860/2582.

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Boylu, Baris. "Genetic Screening Of Turkish Wheat Varieties For The Durable Resistance Gene, Lr34." Master's thesis, METU, 2011. http://etd.lib.metu.edu.tr/upload/12613140/index.pdf.

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Wheat diseases such as rusts and powdery mildews are among the most important and ancient diseases that affect wheat cultivation worldwide. The pathogen race specific resistance genes cannot maintain long lasting resistance. On the other hand, the presence of genes confers the non-race specific resistance last much longer. The durable resistance phenotypes in wheat against various rust and powdery mildew diseases were reported as Lr34, Yr18, and Pm38 separately<br>nevertheless, they were known to locate very close to each other based on linkage analysis. Recently, it was shown that all of thes

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Jones, Mary Elizabeth. "Developing a cancer model in Zebrafish suitable for forward chemical genetic screening." Thesis, University of Manchester, 2008. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.491865.

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It is increasingly apparent that target-based drug discovery is not delivering adequate numbers of clinical candidates for treatment of malignancies. The main problems encountered are target identification, validation and late stage attrition. New complementary techniques are required to increase the success rate of cancer drug discovery. Phenotype-guided discovery, using chemicai genetic screens, provides an alternative strategy that circumvents many of the issues associated with target-based discovery. Zebrafish is a vertebrate model uniquely suited to such high throughput screens, and estab

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Fryknäs, Mårten. "Molecular screening for target discovery in cancer /." Uppsala : Acta Universitatis Upsaliensis : Univ.-bibl. [distributör], 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-7086.

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Wotton, Tiffany Louise. "The impact of DNA mutational applications on the efficiency and specificity of newborn screening." Thesis, The University of Sydney, 2012. https://hdl.handle.net/2123/28826.

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The aim of a newborn screening programme is to provide the early detection of infants with a disorder resulting in a reduction in morbidity and mortality using tests that have an optimal balance between sensitivity and specificity. In most instances screening tests using DNA mutational analysis have been used to provide confirmation of abnormal levels of biochemical markers. However with high throughput automated instruments, DNA from dried blood spot samples, can not only be used as a second tier screening test for disorders such as cystic fibrosis (CF), but possibly also provide a primary sc

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Austin, Elise Garza. "Marfan syndrome : current practices in evaluation and use of genetic testing /." Oklahoma City : [s.n.], 2009.

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Krause, Michael Allen. "Investigation of genetic determinants of drug response in a Plasmodium falciparum genetic cross using a high-throughput screening method." Thesis, University of Oxford, 2015. https://ora.ox.ac.uk/objects/uuid:d11eb018-c23a-4c67-97de-f724a39d5df4.

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The emergence and rapid spread of artemisinin-resistant Plasmodium falciparum in southeast Asia highlights the importance of identifying genetic determinants of drug response and discovering novel potent antimalarials. In support of these efforts, the parental lines and progeny of the 803xGB4 genetic cross were characterized by pharmaceutical compound screening and whole-genome sequencing (WGS). Results of the compound screen identified 52 highly-active compounds with potential for development as antimalarials. A confirmatory screen was performed to more accurately define parasite responses to

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Gapp, Bianca. "Functional genomics and compound mode-of-action screening in haploid human cells." Thesis, University of Oxford, 2017. https://ora.ox.ac.uk/objects/uuid:0c2ce8f8-15f3-447f-9117-8953329bd4ac.

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More than a decade after the completion of the human genome project, the function of a large number of genes remains to be elucidated. Forward and reverse genetic approaches have proven to be powerful tools to study gene function and have provided insights into fundamental biological processes. Furthermore, functional genetic screening can lead to a better understanding of the action of endogenous and exogenous stimuli such as hormones or drugs on biological systems. Thus far, systematic and unbiased studies have largely been limited to model organisms. However, complex disease-relevant genoty

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López, Vernaza Manuel A. "Genetic screen for novel polycomb group (PcG) genes and targets in Arabidopsis thaliana." Thesis, University of Edinburgh, 2009. http://hdl.handle.net/1842/4386.

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Polycomb Group (PcG) proteins are responsible for post-transcriptional modifications in histone tails leading to chromatin condensation and changes in gene expression. In Arabidopsis thaliana, curly leaf (CLF) is a member of the Polycomb Reporssive Complex 2 (PRC2), which cnfers a repressive epigenetic mark, namely trimethylation of histone H3 at lysine 27 (H3K27me3). In the clf mutant, the expression of the floral organ identity gene AGAMOUS (AG) is derepressed in vegetative stages and coincides with loss of H3K27me3 at the AG locus. Recent whole genome prfiling studies have suggested that Pc

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Hellmuth, Hendrik. "Development of novel chemoenzymatic glycoconjugation and screening systems by genetic and chemical engineering /." 145 S, 2007. http://www.gbv.de/dms/bs/toc/548270694.pdf.

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Abdulkareem, Nada Riadh. "Genetic screening and transcriptomics analysis of aortas in patients with bicuspid aortic valve." Thesis, St George's, University of London, 2012. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.590026.

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Congenital bicuspid aortic valve (BAV) is the commonest cardiac defect occurring in 2% of the general population causing aortic valve disease and is associated with ascending aortic aneurysms. Different genetic, metabolic and haemodynamic studies have tried to explain the aetiology of BA V and the development of aortic aneurysm. However, to date, the aetiology of BA V is not fully understood. 1.1.2 Aims To determine whether BAV is due to a genetic mutation in GATA5, fibrillin-l (FBN]) or transforming growth factor beta receptor-2 (TGFBR2), genes recognised as essential for valvulogenesis and a

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46

Hendry, Adam. "Xenopus laevis as a chemical genetic screening tool for drug discovery and development." Thesis, University of East Anglia, 2014. https://ueaeprints.uea.ac.uk/49595/.

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In this thesis we explore the applicability of the X.laevis chemical genetic screening model towards drug discovery and drug development. The NCI diversity set II compound library was screened to identify abnormal pigmentation generating phenotypes that may have therapeutic application towards the treatment of melanoma cancer. 13 hit compounds identified were shown to have significantly lower IC50’s in the A375 melanoma cell line when compared to two control cell lines. Using the structural data of compounds screened (combined with the phenotypic data generated by the X.laevis screen), a repor

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Raberi, Araz. "Genetic contributory factors to infertility." Thesis, University of Oxford, 2017. https://ora.ox.ac.uk/objects/uuid:4363762b-6c0b-465c-925a-ecc86e772220.

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Introduction: In recent years, the average age of first reproduction has risen significantly, the mean now standing at around 30 years in many countries. The adverse effects of maternal age on fertility and reproduction have been well documented. However, the influence of paternal age on fertility, reproduction and postnatal health is relatively poorly understood, and 50% of all male infertility cases are classed as idiopathic or unexplained infertility. Methods: The aim of this study was to investigate factors that contribute to male infertility, split into two main parts. The first part focu

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Petrucci, Teresa. "Building a platform for flexible and scalable testing of genetic editors." Doctoral thesis, Università di Siena, 2021. http://hdl.handle.net/11365/1143160.

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Cell-free systems allow to perform in-vitro transcription-translation reactions without requiring living organisms, revolutionising scientific research over the last decade. This allows to easily synthesise a variety of molecular components for genetic editing applications without requiring expensive and time-consuming procedures such as cell culture, animal maintenance etc. In this work, I aimed to develop a high-throughput platform for the rapid, flexible and scalable in-vitro testing of various genetic editors, such as those part of the CRISPR/Cas repertoire. I used the commercially avail

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Gaonkar, Shraddha. "Challenges in counseling for rare chromosome conditions genetic counselors' perspective /." Waltham, Mass. : Brandeis University, 2009. http://dcoll.brandeis.edu/handle/10192/23239.

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Ahmad, Alzghoul. "Screening Web Breaks in a Pressroom by Soft Computing." Thesis, Halmstad University, School of Information Science, Computer and Electrical Engineering (IDE), 2008. http://urn.kb.se/resolve?urn=urn:nbn:se:hh:diva-1144.

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<p>Web breaks are considered as one of the most significant runnability problems</p><p>in a pressroom. This work concerns the analysis of relation between various</p><p>parameters (variables) characterizing the paper, printing press, the printing</p><p>process and the web break occurrence. A large number of variables, 61 in</p><p>total, obtained off-line as well as measured online during the printing process</p><p>are used in the investigation. Each paper reel is characterized by a vector x</p><p>of 61 components.</p><p>Two main approaches are explored. The first one treats the problem as a</p

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