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Rozprawy doktorskie na temat „Genetic polymorphisms”

Autor: Grafiati

Data publikacji: 4 czerwca 2021

Data aktualizacji: 25 lipca 2025

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1

Karlsson, Sten. "Dynamics of genetic polymorphisms." Doctoral thesis, Norwegian University of Science and Technology, Department of Biology, 2005. http://urn.kb.se/resolve?urn=urn:nbn:no:ntnu:diva-1992.

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2

Howell, Bruce F. "The Use of Genetic Polymorphisms and Discriminant Analysis in Evaluating Genetic Polymorphisms as a Predictor of Population." Thesis, University of North Texas, 2002. https://digital.library.unt.edu/ark:/67531/metadc3138/.

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Discriminant analysis is a procedure for identifying the relationships between qualitative criterion variables and quantitative predictor variables. Data bases of genetic polymorphisms are currently available that group such polymorphisms by ethnic origin or nationality. Such information could be useful to entities that base financial determinations upon predictions of disease or to medical researchers who wish to target prevention and treatment to population groups. While the use of genetic information to make such determinations is unlawful in states and confidentiality and privacy concerns

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3

黎子韻 and Tsz-wan Kristi Lai. "Genetic polymorphisms in ovarian cancer." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2002. http://hub.hku.hk/bib/B31970618.

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Lai, Tsz-wan Kristi. "Genetic polymorphisms in ovarian cancer." Hong Kong : University of Hong Kong, 2002. http://sunzi.lib.hku.hk/hkuto/record.jsp?B25176493.

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Wasfi, Yasmine S. "Apoptosis-related genetic polymorphisms in sarcoidosis /." Connect to full text via ProQuest. IP filtered, 2005.

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6

Marsh, Howard Piers. "Genetic polymorphisms in bladder cancer angiogenesis." Thesis, University of Bristol, 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.428513.

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7

Loh, Yong-Hwee Eddie. "Genetic variation in fast-evolving East African cichlid fishes: an evolutionary perspective." Diss., Georgia Institute of Technology, 2011. http://hdl.handle.net/1853/41148.

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Cichlid fishes from the East African Rift lakes Victoria, Tanganyika and Malawi represent a preeminent example of replicated and rapid evolutionary radiation. In this single natural system, numerous morphological (eg. jaw and tooth shape, color patterns, visual sensitivity), behavioral (eg. bower-building) and physiological (eg. development, neural patterning) phenotypes have emerged, much akin to a mutagenic screen. This dissertation encompasses three studies that seek to decipher the underpinnings of such rapid evolutionary diversification, investigated via the genetic variation in East Afri

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8

Lanchbury, J. S. S. "Studies of genetic polymorphisms in human populations." Thesis, University of Newcastle Upon Tyne, 1986. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.371918.

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9

Hennig, Branwen Johanna Wanda. "Genetic polymorphisms and early-onset periodontal diseases." Thesis, University of Newcastle Upon Tyne, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.311107.

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10

Wang, Wei. "Plasminogen polymorphism in dairy cattle." Thesis, McGill University, 1994. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=26174.

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A genetic approach to lowering protease (plasmin) levels in milk, requires the presence of polymorphism of bovine plasminogen. This study was conducted to determine to what extent genetic polymorphism exists in dairy cattle. Bovine plasminogen was first purified from Holstein cow plasma by affinity chromatography on Lysine-Sepharose and antibodies to bovine plasminogen were raised by monthly intramuscular injection of the isolated bovine plasminogen into rabbits. For plasminogen phenotyping, blood samples were collected at random from 50 Holstein and Ayrshire cattle, and plasminogen was isolat

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11

Stolk, Megan. "Characterisation of novel TAC3 a d TACR3 gene variants and polymorphisms in patients with pre-eclampsia /." Thesis, Stellenbosch : University of Stellenbosch, 2007. http://hdl.handle.net/10019.1/1748.

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Thesis (MSc (Genetics))—University of Stellenbosch, 2007.<br>In South Africa, pre-eclampsia is the second highest cause of maternal deaths. The incidence of this disease in the Western Cape alone is 6.8% and places a large burden of health care facilities. The placenta and implantation thereof is thought to play the most significant role in the onset of this disease. Among the many theories for its aetiology, is the acknowledged two - stage theory. This is based on evidence that pre-eclamptic placentas demonstrate altered remodelling and invasion into the uterine endometrium and myometriu

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12

Ting, Tung-yuen, and 丁東源. "Analysis of genetic polymorphisms in skeletal class I crowding." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2011. http://hub.hku.hk/bib/B47147817.

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13

Chu, Sok-fan, and 朱淑芬. "Association between {221}-Chemokine gene polymorphisms and tuberculosis." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2005. http://hub.hku.hk/bib/B35736136.

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14

Carter, Deidre Anne. "DNA polymorphisms as genetic markers in Phytophthora infestans." Thesis, Imperial College London, 1991. http://hdl.handle.net/10044/1/46699.

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15

Sanyal, Somali. "Effect of genetic polymorphisms on urinary bladder neoplasms /." Stockholm, 2007. http://diss.kib.ki.se/2007/978-91-7357-081-7/.

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16

Tso, Hoi-wan, and 曹凱韻. "Interleukin 12P40 genetic polymorphisms and tuberculosis in Chinese." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2003. http://hub.hku.hk/bib/B29246933.

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17

Fogarty, Damian Gerard. "The association of genetic polymorphisms with diabetic nephropathy." Thesis, Queen's University Belfast, 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.318770.

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18

Gao, Bo. "Genetic polymorphisms and chemotherapy response in ovarian cancer." Thesis, The University of Sydney, 2014. http://hdl.handle.net/2123/12884.

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Epithelial ovarian cancer (EOC) is usually treated with paclitaxel and carboplatin combination. Germline genetic variations may affect drug clearance therefore response. ABCB1 (ATP-binding cassette B1) is an efflux transporter of paclitaxel. We found an association between ABCB1 polymorphisms and survival in EOC patients. In lymphoblastoid cell lines (LCLs), ABCB1 expression correlated with transporter activity and paclitaxel sensitivity, but not with ABCB1 polymorphisms. In a prospective pharmacokinetic study, an association was identified between ABCB1 genotypes and paclitaxel clearance in t

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19

Coller, Janet K. "The Influence of the CYP2C19 and CYP2D6 genetic polymorphisms on oxidative drug metabolism." Title page, contents and abstract only, 1999. http://web4.library.adelaide.edu.au/theses/09PH/09phc6968.pdf.

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Amendements: leaves 252-254. Copies of author's previously published articles inserted. Bibliography: leaves 226-251. The CYP2C19 and CYP2D6 genetic polymorphisms control the oxidative metabolism of many different drug classes. Populations are separated into groups of extensive metabolisers (EM), poor metabolisers (PM), and in the case of CYP2D6, ultra-rapid metabolisers (UM). In vitro studies using human liver microsomes were conducted to examine the kinetics of the oxidative metabolism of flunitrazepam, and which CYP450 enzymes mediate the oxidative metabolism of flunitrazepam, (S)-mephenyto

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20

Gerber, Jaclyn. "Cytochrome P450 polymorphisms : relevance in two South African disease populations." Thesis, Stellenbosch : Stellenbosch University, 2003. http://hdl.handle.net/10019.1/53345.

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Thesis (MSc)--Stellenbosch University, 2003.<br>ENGLISH ABSTRACT: With knowledge of the human genome increasing constantly we are continually faced with new and potentially groundbreaking methods for managing, treating and/or identifying diseases and predisposition to diseases and conditions at a genetic level. The human cytochrome P450 (CYP) super-family of genes code for enzymes that can participate in metabolism of drugs and foreign chemicals and in steroid synthesis and metabolism. Mutations in these genes may contribute to clinically relevant diseases. In this study, the effects of

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21

Chen, Pak-lam Sammy, and 陳栢林. "Influence of microsomal triglyceride transfer protein (MTP) gene polymorphism on plasma lipids and lipoproteins in southern Chinese." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2003. http://hub.hku.hk/bib/B31980922.

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22

Chai, Lei, and 柴磊. "The association between Fc gamma receptor gene polymorphisms and periodontitis." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2008. http://hub.hku.hk/bib/B40687612.

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23

Higashi, Mitchell K. "Assessing the clinical and economic impact of genetic polymorphisms /." Thesis, Connect to this title online; UW restricted, 2001. http://hdl.handle.net/1773/7975.

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24

Ye, Z. "Genetic polymorphisms and cancer susceptibility database construction and analysis of genetic association studies." Thesis, Swansea University, 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.636707.

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The sequencing of the human genome and the ongoing discovery of single nucleotide polymorphisms (SNPs) provide us with new opportunities to understand the genetic basis for individual differences in susceptibility to disease, especially to cancer. Identification of individual's risk of developing cancer is a challenging goal of molecular epidemiology. In this thesis, a genetic polymorphism and cancer susceptibility database has been constructed and provided a valuable resource used to better understand individual cancer risk. Meta-analyses of cancer association studies give important clues for

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25

Liu, Shuk Ming. "Single nucleotide polymorphism in human microsomal glutathione s-transferase gene and colorectal cancer /." View Abstract or Full-Text, 2003. http://library.ust.hk/cgi/db/thesis.pl?BIOL%202003%20LIU.

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Thesis (M. Phil.)--Hong Kong University of Science and Technology, 2003.<br>Includes bibliographical references (leaves 95-105). Also available in electronic version. Access restricted to campus users.

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26

Ulusoy, Gulen. "Genetic Polymorphisms Of Alcohol Inducible Cyp2e1 In Turkish Population." Master's thesis, METU, 2005. http://etd.lib.metu.edu.tr/upload/12604747/index.pdf.

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Cytochrome P4502E1 (CYP2E1), the ethanol-inducible isoform of cytochrome P450 superfamily, catalyzes many low molecular weight endogenous and exogenous compounds, including ethanol, acetone, drugs like acetaminophen and chlorzoxazone, and industrial solvents like benzene and styrene, most of which are carcinogenic. Besides, it has a high capacity to produce reactive oxygen species. CYP2E1 is induced by ethanol and isoniazid, as well by some pathophysiological conditions like diabetes and starvation. CYP2E1 gene shows genetic polymorphisms which are thought to play a major role in interindividu

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27

Ossei-Gerning, Nicholas. "Genetic polymorphisms and the risk of coronary artery disease." Thesis, University College London (University of London), 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.391615.

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28

Rees, Margaret Tracey. "The influence of genetic polymorphisms on renal allograft survival." Thesis, University of Bristol, 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.434786.

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29

Hayashi, Satomi. "HYPERHOMOCYSTEINEMIA: GENETIC POLYMORPHISMS AND RISK OF CORONARY ARTERY DISEASE." Thesis, The University of Arizona, 2003. http://hdl.handle.net/10150/610473.

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This comprehensive literature review focuses on homocysteine, gene polymorphisms related to homocysteine metabolism and their relationship to coronary artery disease (CAD). Currently, CAD is known as a multifactorial genetic disease, resulting from complex interactions between genetic factors and various environmental influences. In recent years, tremendous knowledge about the hereditary aspect of CAD has been gained, including an understanding of CAD as a multifactorial condition resulting from complex interactions between genetic factors and various environmental influences that trigg

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30

Santos, Marina Silva dos. "Genetic susceptibility to thyroid cancer: contributions of RET polymorphisms." Master's thesis, Universidade da Beira Interior, 2012. http://hdl.handle.net/10400.6/1199.

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Thyroid cancer is the most common malignancy of the endocrine system, represents more than 1% of all malignancies and has an estimated annual incidence of 212,000 cases worldwide. The term differentiated thyroid carcinoma (DTC) comprises the subtypes papillary thyroid carcinoma (PTC) and follicular thyroid carcinomas (FTC), these subtypes represent the two most common subtypes of thyroid cancer (approximately 80% and 10% respectively). Despite its incidence DTCs have a good prognosis with relatively few metastases and deaths associated. The polymorphisms (variants in DNA sequence among individ

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31

Wild, John Benjamin. "An investigation into genetic polymorphisms and abdominal aortic aneurysms." Thesis, University of Leicester, 2015. http://hdl.handle.net/2381/38838.

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Introduction: A wide variety of genetic polymorphisms have demonstrated a significant association to the disease abdominal aortic aneurysm (AAA). Polymorphisms in rs217120 (Cathepsin C gene CTSC) and rs1466535 (low density lipoprotein receptor related protein 1 gene, LRP1) have both been associated with AAA, rs1466535 from a genome wide association study (GWAS). Materials & Methods: Associations were first confirmed then exons in close proximity to the polymorphisms were re-sequenced in order to detect new mutations. Protein levels were assayed and tissue was stained in order to determine the

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32

Rands, Alison Louise. "Autoantibodies, genetic polymorphisms and clinical subsets in systemic sclerosis." Thesis, University of Bath, 2001. https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.392019.

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33

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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34

BERNARDI, JOYCE. "Arrhythmogenic mechanisms in genetic channelopathies." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2017. http://hdl.handle.net/10281/153192.

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Introduzione: Recentemente, varianti minori di SNP del gene NOS1AP sono stati associati a prolungamento del QT e aumentata incidenza di morte improvvisa in pazienti LQT1. Il gene NOS1AP codifica per la proteina CAPON, che localizza NOS1 in prossimità del reticolo sarcoplasmico (SR). L' attività di NOS1 è importante per la modulazione mediate da NO di ICaL, dei canali RyR2 e di SERCA, interferendo così con la regolazione dell’handling del Ca2+ e la stabilità del SR. Perciò abbiamo ipotizzato che gli SNPs di NOS1AP possano alterare la localizzazione/funzione di NOS1 diminuendo la stabilità de

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35

Tang, Ling-fung Paul, and 鄧凌鋒. "Dissecting the genetics of complex trait in mouse: an attempt using public resources and in-houseknockout." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2010. http://hub.hku.hk/bib/B43572170.

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36

Lam, Yin, and 林燕. "Association of polymorphisms in NRAMP1 gene and host susceptibility totuberculosis." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2002. http://hub.hku.hk/bib/B3122619X.

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37

Torkko, Kathleen Carroll. "Vitamin D receptor gene polymorphisms and prostate cancer /." Connect to full text via ProQuest. IP filtered, 2005.

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Thesis (Ph.D. in Epidemiology) -- University of Colorado at Denver and Health Sciences Center, 2005.<br>Typescript. Includes bibliographical references (leaves 95-118). Free to UCDHSC affiliates. Online version available via ProQuest Digital Dissertations;

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38

Lai, Ming-hei, and 賴銘曦. "The role of estrogen receptor alpha & beta polymorphisms in osteoporosis." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2007. http://hub.hku.hk/bib/B45012921.

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39

Chu, Sok-fan. "Association between [beta]-Chemokine gene polymorphisms and tuberculosis." Click to view the E-thesis via HKUTO, 2005. http://sunzi.lib.hku.hk/hkuto/record/B35736136.

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40

Morcillo, Suárez Carlos. "Analysis of genetic polymorphisms for statistical genomics: tools and applications." Doctoral thesis, Universitat Pompeu Fabra, 2011. http://hdl.handle.net/10803/78126.

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New approaches are needed to manage and analyze the enormous quantity of biological data generated by modern technologies. Existing solutions are often fragmented and uncoordinated and, thus, they require considerable bioinformatics skills from users. Three applications have been developed illustrating different strategies to help users without extensive IT knowledge to take maximum profit from their data. SNPator is an easy-to-use suite that integrates all the usual tools for genetic association studies: from initial quality control procedures to final statistical analysis. CHAVA is an inter

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41

Klippmark, Therese. "The use of genetic polymorphisms for identification of fused cells." Thesis, Linköping University, Department of Clinical and Experimental Medicine, 2008. http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-15351.

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<p>Metastasis is a feared aspect of cancer and little is known about the underlying mechanisms. It is proposed that metastasis is caused by cell fusion between tumour and immune active phagocyte cells, for example macrophages. Such hybrid cells could then develop immortality and chemo tactic mobility. In two different systems it was examined whether it is possible to detect variation in cancer cells that would explain an initial fusion between tumour cells and leukocyte cells. Both systems included use of STR markers. Human colon carcinoma cells, which originally had been grown in nude mice, w

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42

Hamajima, Nobuyuki. "Persistent helicobactor pylori infection and genetic polymorphisms of the host." Nagoya University School of Medicine, 2003. http://hdl.handle.net/2237/5395.

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43

Löfgren, Sara E. "Functional Role of Genetic Polymorphisms Associated with Systemic Lupus Erythematosus." Doctoral thesis, Uppsala universitet, Medicinsk genetik, 2012. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-166909.

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Systemic lupus erythematosus (SLE) is a chronic and complex autoimmune disorder characterized by a failure in the mechanism of self-tolerance and production of autoantibodies, potentially affecting any organ in the body. The genetic factors behind the disease have been extensively studied in the past years and to date a list of more than 30 loci have been associated with SLE. However, very little is known about the functional significance of the risk variants. In this thesis, we focused on the analysis of SLE-associated variants in three genes: interferon regulatory factor 5 (IRF5), CD226 and

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44

Kay, Linda. "Influence of genetic polymorphisms on beta2-adrenoceptor expression and function." Thesis, University of Sheffield, 2008. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.489852.

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The Pradrenoceptor gene (ADRB2) is polymorphic at a number of loci both within the promoter and coding region. These polymorphisms have been shown to influence both the function and expression of the Beta2-adrenoceptor. However, these findings have been based on studies in transfected cell lines. The aim of the present study was to establish whether polymorphisms in ADRB2 are similarly influential in primary human cell systems. To this end the model system studied was the Beta2-adrenoceptor expressed in human lung mast cells. This study considered single nucleotide polymorphisms (SNPs) and the

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45

Zheng, Chengyun. "Genetic polymorphisms and natural killer cell activity in multiple myeloma /." Stockholm, 2002. http://diss.kib.ki.se/2002/91-7349-222-1.

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46

Nibali, Luigi. "Analysis of genetic polymorphisms as risk factors for Aggressive Periodontitis." Thesis, University College London (University of London), 2006. http://discovery.ucl.ac.uk/1444871/.

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This PhD consisted of a series of studies aiming at detecting genetic risk factors for Aggressive Periodontitis (AgP). AgP is a destructive disease of the periodontium affecting around 1% of the population and leading to early tooth loss. Microbiological and environmental factors are thought to act on a genetically susceptible host to determine AgP. We conducted a case-control association study on 224 AgP patients (both Generalised AgP and Localised AgP) and 231 healthy controls to detect differences in genotype distributions of 13 single nucleotide polymorphisms (SNPs). The selected SNPs incl

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47

Wilson, Rachel Erin. "The Genetic Basis for Seed Coat Polymorphisms In Lupinus Perennis." Bowling Green State University / OhioLINK, 2019. http://rave.ohiolink.edu/etdc/view?acc_num=bgsu1566754995812035.

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Consolini, Nicola <1984&gt. "Chronic Obstructive Pulmonary Disease: Genetic Polymorphisms and Intermediary Metabolism Alterations." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2016. http://amsdottorato.unibo.it/7594/1/CONSOLINI_NICOLA_tesi.pdf.

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Chronic obstructive pulmonary disease (COPD) is a multifactorial disease characterized by airflow obstruction that is usually progressive and associated with an abnormal inflammatory response of the lungs to noxious particles and gases. Cigarette smoke (CS) is the main risk factor, but only a small proportion of smokers (15-20%) develop symptomatic disease, this suggests that there are individual susceptibility factors involved in disease onset and progression. Considering the impact of environmental and genetic risk factors in COPD, this dissertation sought to uncover genetic susceptibility b

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Consolini, Nicola <1984&gt. "Chronic Obstructive Pulmonary Disease: Genetic Polymorphisms and Intermediary Metabolism Alterations." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2016. http://amsdottorato.unibo.it/7594/.

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Chronic obstructive pulmonary disease (COPD) is a multifactorial disease characterized by airflow obstruction that is usually progressive and associated with an abnormal inflammatory response of the lungs to noxious particles and gases. Cigarette smoke (CS) is the main risk factor, but only a small proportion of smokers (15-20%) develop symptomatic disease, this suggests that there are individual susceptibility factors involved in disease onset and progression. Considering the impact of environmental and genetic risk factors in COPD, this dissertation sought to uncover genetic susceptibility b

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50

Donati, Mauro. "Gene polymorphisms and related cell markers in periodontitis lesions /." Göteborg : Department of Periodontology, Institute of Odontology, The Sahlgrenska Academy at University of Gothenburg, 2009. http://hdl.handle.net/2077/20298.

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