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Dissertations / Theses on the topic 'Human gene polymorphisms'

Author: Grafiati

Published: 3 June 2025

Last updated: 31 July 2025

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1

Heathcote, Kirsten. "Polymorphisms of the human TGF-β1 gene". Thesis, University of Cambridge, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.603934.

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Experimental evidence has implicated a function for TGF-β1 in many pathological processes, including atherosclerosis, cancer, fibrotic diseases and osteoporosis. In this study 1115 bp of the TGF-β1 promoter, the 5' untranslated region and exons 1, 2 and 3 were screened by single stranded conformational polymorphism analysis. Four polymorphisms were identified in the TGF-β1 gene at -800 and -509 of the promoter and at +869 (codon 10) and +914 (codon 25) of exon 1. A simple non-radioactive assay was developed for each of these polymorphisms and also for a polymorphism located at +1628 (exon 5, c

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2

Robilliard, Donna L. "Clock gene polymorphisms in human subjects with defined circadian phenotypes." Thesis, University of Surrey, 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.412045.

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3

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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4

Gill, L. L. "Isolation, structure and polymorphisms of the gene for human apolipoprotein E." Thesis, University of Aberdeen, 1985. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.304270.

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5

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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6

Zukunft, Jörg. "Functional characterization of promoter polymorphisms in the human Cytochrome P450 2B6 gene (CYP2B6)." [S.l. : s.n.], 2005. http://www.bsz-bw.de/cgi-bin/xvms.cgi?SWB11947836.

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7

Yu, Chack-yung. "The gene structure and the polymorphism of the human complement component C4." Thesis, University of Oxford, 1987. http://ora.ox.ac.uk/objects/uuid:5a8473fb-01c1-43a1-961b-6c23f41c93f4.

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1. The DNA sequence of the human complement C4A gene from a cosmid clone Cos 3A3 was determined and the complete exon-intron structure elucidated. The 5' flanking region of the C4 gene contains three TATA sequences and a transcriptional enhancer core sequence, which are >200 nucleotides (nt) and 60-70 nt upstream from the CAP site, respectively. The gene consists of 42 exons coding for a precursor protein of 1745 residues. The first exon codes for a 51 nt 5' untranslated sequence, a leader peptide of 19 residues, and the N-terminus of the β chain. The β-α and the α-γ chain junctions are encode

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8

Perla, Sravan K. "Epigenetic Regulation of the Human Angiotensinogen by Single Nucleotide Polymorphisms." University of Toledo Health Science Campus / OhioLINK, 2018. http://rave.ohiolink.edu/etdc/view?acc_num=mco1544800350207546.

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9

Alherz, Fatemah A. "Investigation of Single Nucleotide Genetic Polymorphisms of the Human SULT2B1 Gene: Functional Characterization of SULT2B1b Allozymes." University of Toledo / OhioLINK, 2018. http://rave.ohiolink.edu/etdc/view?acc_num=toledo1524918487854005.

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10

Standring, Peter. "Class II Human Leukocyte Antigen gene polymorphisms, cell surface expression and immunoglobulin E mediated disease." Thesis, University of Southampton, 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.262910.

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11

Хірний, Дмитро Валерійович, Дмитрий Валерьевич Хирный, and Dmytro Valeriiovych Khirnyi. "Associations between human aldosterone synthase (CYP11B2) gene polymorphisms and left ventricular size, mass, and function." Thesis, Sumy State University, 2017. http://essuir.sumdu.edu.ua/handle/123456789/65603.

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Aldosterone has direct and indirect effects on the heart, and genetic variations in aldosterone synthesis could therefore influence the cardiac structure and function. Such variations might be associated with polymorphisms in the gene encoding aldosterone synthase (CYP11B2), the enzyme catalyzing the last steps of aldosterone biosynthesis.

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12

Alderete, John Paul. "Translational effects of mutations and polymorphisms in a repressive upstream open reading frame of the human cytomegalovirus UL4 gene /." Thesis, Connect to this title online; UW restricted, 2000. http://hdl.handle.net/1773/11499.

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13

Poikonen, K. (Kari). "Susceptibility of human macrophages to Chlamydia pneumoniae infection in vitro." Doctoral thesis, University of Oulu, 2010. http://urn.fi/urn:isbn:9789514261626.

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Abstract Chlamydia pneumoniae is an obligate intracellular gram-negative bacterium, which causes respiratory infections in humans and may participate in the development of chronic diseases like atherosclerosis, chronic obstructive lung disease, adult-onset asthma and late-onset Alzheimer’s disease. It can infect various cell types, e.g. vascular endothelial cells, smooth muscle cells and monocyte-derived macrophages in vitro. It has been speculated that circulating macrophages disseminate the infection in the body, and that genetically susceptible individuals become chronically infected. Qua

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14

Lowe, Robert M. J. "AT-repeat polymorphisms of the human CTLA-4 gene : associations with autoimmune diabetes and allele-specific variation of expression /." Thesis, Connect to this title online; UW restricted, 2003. http://hdl.handle.net/1773/5026.

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15

Xia, Yu. "Molecular cloning and characterization of the human [alpha]-synuclein (SNCA) gene : genomic structure, transcription start site, promoter region and polymorphisms /." Diss., Connect to a 24 p. preview or request complete full text in PDF format. Access restricted to UC campuses, 1998. http://wwwlib.umi.com/cr/ucsd/fullcit?p9835292.

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16

Pandey, Varunkumar Girijaprasad. "The Effect of Glucocorticoids on Regulation of the Human Angiotensinogen Gene and Blood Pressure." University of Toledo Health Science Campus / OhioLINK, 2013. http://rave.ohiolink.edu/etdc/view?acc_num=mco1378647891.

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17

Mullin, Benjamin H. "Analysis of candidate genes within the 3p14-p22 region of the human genome for association with bone mineral density phenotypes." Thesis, Curtin University, 2011. http://hdl.handle.net/20.500.11937/1569.

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Previous studies have identified the 3p14-p22 chromosomal region as a quantitative trait locus for bone mineral density (BMD). The overall aim of this thesis is to identify the gene or genes from this region that are responsible for the linkage observed. The studies described within are centred on the analysis of polymorphisms within candidate genes from 3p14-p22 for association with BMD phenotypes in Caucasian women. Some functional work has also been performed to provide information on the role of these genes in bone cells. It is hoped that by identifying the genes that regulate BMD, a bette

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18

Venugopal, Gopinath [Verfasser]. "Brugia malayi cystatin induced immunomodulation on human monocytes and macrophages and identification of immune gene polymorphisms associated with lymphatic filariasis / Gopinath Venugopal." Berlin : Freie Universität Berlin, 2019. http://d-nb.info/1194380964/34.

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19

Shukry, Sally Gamal. "FUNCTIONAL AND BIOCHEMICAL CONSEQUENCES OF SINGLE NUCLEOTIDE POLYMORPHISMS IN THE HUMAN VESICULAR MONOAMINE TRANSPORTER 1 GENE (SLC18A1) By Sally Gamal Shukry, B.S." VCU Scholars Compass, 2012. http://scholarscompass.vcu.edu/etd/360.

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Abstract FUNCTIONAL AND BIOCHEMICAL CONSEQUENCES OF SINGLE NUCLEOTIDE POLYMORPHISMS IN THE HUMAN VESICULAR MONOAMINE TRANSPORTER 1 GENE (SLC18A1) By Sally Gamal Shukry, B.S. A thesis submitted in partial fulfillment of the requirements for the degree of Master of Science in Biology at Virginia Commonwealth University. Virginia Commonwealth University, 2012 Major Advisor: Jennifer K. Stewart Associate Professor and Graduate Director, Department of Biology Single nucleotide polymorphisms (SNP) in the human VMAT1 gene (SLC18A1) have been associated with schizophrenia in three different population

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20

Ibáñez, Lladó Laura. "Human Immunodeficiency Virus infection, asymptomatic atherosclerosis, and inflammation: A candidate gene study." Doctoral thesis, Universitat de Barcelona, 2014. http://hdl.handle.net/10803/292490.

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Acquired Immunodeficiency Syndrome (AIDS) was identified more than 30 years ago. The challenges for the clinicians and Human Immunodeficiency Virus (HIV)-infected individuals have changed over the years. Nowadays, viral replication is suppressed with Antiretroviral Therapy (ART). ART prevents AIDS related complications and decreases morbidity and mortality in HIV-infected subjects. However, mortality rates among HIV-infected individuals remain 3-15 times higher than those observed in the general population. The excess of mortality observed among HIV-infected subjects can be partly attributed t

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21

Rodrigues, Marilene Elizabete Pavan. "Variantes do gene RALDH2 e doenças cardíacas congênitas." Universidade de São Paulo, 2007. http://www.teses.usp.br/teses/disponiveis/42/42134/tde-09012008-153110/.

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Nós investigamos o papel da variação genética do gene RALDH2 e as doenças cardíacas congênitas (DCCs). Seis SNPs foram utilizados em um estudo de TDT. Testes de associação foram desenvolvidos e tanto os marcadores testados quanto os haplótipos analisados não mostraram associação com a doença. Análise do polimorfismo A151G indica que a variante produz mudanças substanciais na estrutura do RNAm. Esta variante está localizada em um exonic splicing enhancer (ESE). Estudos funcionais de splicing não mostraram impacto significante desta variante sobre a alteração do splicing do gene. Este estudo foi

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22

Kimuda, Magambo Philip. "In silico analysis of the effects of non-synonymous single nucleotide polymorphisms on the human macrophage migration inhibitory factor gene and their possible role in human African trypanosomiasis susceptibility." Thesis, Rhodes University, 2016. http://hdl.handle.net/10962/3047.

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Human African trypanosomiasis (HAT) is a public health problem in sub-Saharan Africa, with approximately 10,000 cases being reported per year. The Macrophage Migration Inhibitory Factor (MIF) which is encoded by a functionally polymorphic gene is important in both innate andadaptive immune responses, and has been implicated in affecting the outcome and processes of several inflammatory conditions. A recent study in mice to that effect showed that MIF deficient and anti-MIF antibody treated mice showed lowered inflammatory responses, liver damage and anaemia than the wild type mice when experim

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23

Binti, Ahmad Yusof Hazwani. "The Effects of Angiotensin I-Converting Enzyme (ACE) I/D and Alpha-Actinin-3 (ACTN3) R/X Gene Polymorphisms on Human Physical Performance and Health within Malaysian Population." Thesis, The University of Sydney, 2015. http://hdl.handle.net/2123/14722.

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A disparity population data set in the current literature with limited reports among Asian samples, coupled with the inconsistent findings among different ethnic groups, and lack of information for the involvement of angiotensin I-converting enzyme (ACE) I/D and alpha-actinin-3 (ACTN3) R/X gene polymorphisms in training adaptation have limited the ability of researchers to draw meaningful conclusions pertaining to the effects of these polymorphisms on human physical performance and health. Therefore, this doctoral research implemented three series of studies to examine the effects of ACE I/D a

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24

Wolff, Estelle. "Étude de l'absorption instestinale du cholestérol chez l'homme à l'aide des marqueurs directs et indirects : influence des facteurs nutritionnels et génétiques." Thesis, Aix-Marseille 2, 2010. http://www.theses.fr/2010AIX22958/document.

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Deux approches ont été mises au point et utilisées afin de mieux comprendre les facteurs nutritionnels, physiopathologiques et génétiques intervenant dans la grande variabilité d'absorption du cholestérol chez l'homme (30-80%) :- le dosage de marqueurs plasmatiques d'absorption et de synthèse du cholestérol (METHODE INDIRECTE), qui s'applique aux grandes cohortes.- le dosage simultané de deux isotopes stables du cholestérol utilisés comme traceurs (METHODE DIRECTE), qui est la méthode de référence pour déterminer le taux d'absorption du cholestérol alimentaire.Nous avons déterminé, par la méth

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25

Gore, Panter Shamone Robinette. "Genetic and Functional Studies of LociAssociated with Atrial Fibrillation." Case Western Reserve University School of Graduate Studies / OhioLINK, 2014. http://rave.ohiolink.edu/etdc/view?acc_num=case1396521127.

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26

Carpen, Jayshan D. "Polymorphisms in the human Period genes." Thesis, University of Surrey, 2007. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.441716.

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27

Davidson, Scott. "Investigating human polymorphism density and transcriptional regulation of the galanin gene." Thesis, University of Aberdeen, 2009. http://digitool.abdn.ac.uk:80/webclient/DeliveryManager?pid=100111.

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The present study aimed to gain better insights into the distribution of genomic variation, in the form of single nucleotide polymorphisms, within the human genome. Using set theory, the average SNP density of the human genome was found to be 2.6 SNPs per kilobase. This figure decreased with increasing evolutionary depth, i.e. conservation. The conserved exonic, intronic subsets had a lower SNP density than the conserved intergenic subset, suggesting that the conserved exonic and intronic regions are under similar strengths of selective pressure while conserved intergenic regions are under

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28

Woods, David Richard. "The ACE I/D polymorphism and gene-environment interaction in human performance." Thesis, University of Leeds, 2004. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.413280.

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29

Ibberson, Mark Robert. "Genomic organisation and polymorphism of the human T cell receptor variable alpha gene cluster." Thesis, Imperial College London, 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.321749.

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30

Hollox, Edward John. "Molecular and population genetic analyses of variation within and surrounding the human lactase gene." Thesis, University College London (University of London), 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.322742.

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31

Zhao, Xiaoyan. "Genetic and immunological control of human myasthenia gravis /." Stockholm, 2005. http://diss.kib.ki.se/2005/91-7140-494-5/.

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32

Westlind, Johnsson Anna. "Pharmacogenetics of human cytochrome P450 3A (CYP3A) enzymes /." Stockholm, 2003. http://diss.kib.ki.se/2003/91-7349-688-x.

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33

Freund, Christian. "PROGINS-polymorphism in the human progesterone receptor gene: a potential genetic risk factor for prostate cancer?" Ulm : Universität Ulm, Medizinische Fakultät, 2002. http://www.bsz-bw.de/cgi-bin/xvms.cgi?SWB10028616.

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34

Lupindo, Bukiwe. "Prevalence and frequency spectra of single nucleotide polymorphisms at exon-intron junctions of human genes." Master's thesis, University of Cape Town, 2008. http://hdl.handle.net/11427/4289.

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Includes bibliographical references (leaves 92-112).<br>In humans and other higher eukaryotes the observation of multiple splice isoforms for a given gene is common. However it is not clear whether all of these alternatively spliced isoforms are a product of true alternative splicing or some are due to DNA sequence variations in human populations. Genetic variations that affect splicing have been shown to cause variation in splicing patterns and potentially are an important source of phenotypic variability among humans. Furthermore, variation in disease susceptibility and manifestation between

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35

Freund, Christian [Verfasser]. "PROGINS-polymorphism in the human progesterone receptor gene: a potential genetic risk factor for prostate cancer? / Christian Freund." Ulm : Universität Ulm. Medizinische Fakultät, 2002. http://d-nb.info/1015948650/34.

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36

SANTOS, Erinaldo Ubirajara Damasceno dos. "Estudo de associação de polimorfismos nos genes CCR2 e CCR5 com o desenvolvimento de lesões cervicais induzidas pelo HPV." Universidade Federal Rural de Pernambuco, 2016. http://www.tede2.ufrpe.br:8080/tede2/handle/tede2/4811.

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Submitted by Mario BC (mario@bc.ufrpe.br) on 2016-06-17T13:30:57Z No. of bitstreams: 1 Erinaldo Ubirajara Damasceno dos Santos.pdf: 5711027 bytes, checksum: 05684bbb6abc042b66317984510ed3df (MD5)<br>Made available in DSpace on 2016-06-17T13:30:57Z (GMT). No. of bitstreams: 1 Erinaldo Ubirajara Damasceno dos Santos.pdf: 5711027 bytes, checksum: 05684bbb6abc042b66317984510ed3df (MD5) Previous issue date: 2016-02-23<br>Cervical cancer (CC) affects about half a million women each year worldwide. The main etiological agent that can lead to the development of the CC is the human papillomavirus

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37

Grundberg, Elin. "Genetic Variability in Human Bone Phenotypes : The Vitamin D Receptor Gene and the Estrogen Receptor-α Cofactor RIZ Gene". Doctoral thesis, Uppsala University, Department of Medical Sciences, 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-6784.

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<p>Important candidate genes to human bone phenotypes are those involved in the regulation of hormonal action, such as the vitamin D receptor (VDR) and the estrogen receptor-α (ERα) genes and their cofactors. RIZ1 is a specific ERα cofactor proved to strongly enhance the function of the ERα. </p><p>The main focus of this thesis has been to study genetic variants in the VDR and RIZ genes and their associations to human bone phenotypes using candidate gene and functional approaches. Specifically, polymorphisms in the VDR 3’ untranslated region (UTR) and a deletion/insertion polymorphism of a pro

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38

Slak, Ana. "The dependent and independent effects of the PER3 VNTR polymorphism and sleep deprivation on human whole blood gene expression." Thesis, University of Surrey, 2012. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.583344.

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Chronic lack of sleep has been shown to be deleterious to our health. A variable number tandem repeat (VNTR) polymorphism in PERIOD3 (PER3) gene (rs57875989), has been reported to associate with diurnal preference, sleep propensity, vulnerability to sleep loss, and risk of cancer and mental illnesses. Although sleep loss at the molecular level in animal models has been studied extensively, there is a paucity of data in humans. The aim of the current study was to investigate the dependent and independent effects of the PER3 VNTR polymorphism and sleep loss on gene expression. Men and women homo

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39

Lui, Weng-Onn. "Approaches for the localization and identification of human cancer genes /." Stockholm, 2002. http://diss.kib.ki.se/2002/91-7349-315-5/.

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Costa, Giselle Calasans de Souza. "Investigação de polimorfismos no gene humano da glut1: correlação com a infecção pelo HTLV-1." reponame:Repositório Institucional da FIOCRUZ, 2008. https://www.arca.fiocruz.br/handle/icict/4216.

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Submitted by Ana Maria Fiscina Sampaio (fiscina@bahia.fiocruz.br) on 2012-07-19T20:54:41Z No. of bitstreams: 1 Giselle Calasans de Souza Costa. Investigação de Polimorfismos no gene humano da Glut1 - CPqGM - Dissertação de Mestrado - 2008.pdf: 901999 bytes, checksum: f8d18c6846f38a411006c2e451309767 (MD5)<br>Made available in DSpace on 2012-07-19T20:54:41Z (GMT). No. of bitstreams: 1 Giselle Calasans de Souza Costa. Investigação de Polimorfismos no gene humano da Glut1 - CPqGM - Dissertação de Mestrado - 2008.pdf: 901999 bytes, checksum: f8d18c6846f38a411006c2e451309767 (MD5) Previous is

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Amigou, Alicia. "Etude des facteurs de risque des leucémies de l'enfant." Phd thesis, Université Paris Sud - Paris XI, 2013. http://tel.archives-ouvertes.fr/tel-00954463.

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Objectif : Ce travail s'inscrit dans le cadre d'une recherche étiologique sur les leucémies aigues (LA) de l'enfant, pathologies dont les facteurs de risque sont peu connus. Plusieurs hypothèses ont été testées : 1) le rôle protecteur d'une supplémentation maternelle en acide folique avant et pendant la grossesse et l'investigation par une approche gène-candidat du rôle de polymorphismes communs rs1801133 et 1801131 de MTHFR et rs1801394 et rs1532268 de MTRR supposés modifier le métabolisme des folates, 2) l'association entre la profession et des expositions professionnelles maternelles lors d

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Ramis, Ivy Bastos. "Fatores de risco associados à infecção pelo Helicobacter pylori e ao desfecho clínico." Universidade Federal de Pelotas, 2014. http://repositorio.ufpel.edu.br:8080/handle/prefix/3705.

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Submitted by Maria Beatriz Vieira (mbeatriz.vieira@gmail.com) on 2017-08-29T13:17:11Z No. of bitstreams: 2 license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5) tese_ivy_bastos_ramis.pdf: 1360974 bytes, checksum: 5f055cbf4d5ce0a95672ccdf092907c8 (MD5)<br>Approved for entry into archive by Aline Batista (alinehb.ufpel@gmail.com) on 2017-08-29T19:50:35Z (GMT) No. of bitstreams: 2 license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5) tese_ivy_bastos_ramis.pdf: 1360974 bytes, checksum: 5f055cbf4d5ce0a95672ccdf092907c8 (MD5)<br>Approved for entry into archive by Al

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LE, GALL ISABELLE. "Polymorphisme geonomique du complexe majeur d'histocompatibilite de l'homme." Paris 7, 1988. http://www.theses.fr/1988PA077100.

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Silva, Gabriela Kniphoff da. "O papel dos polimorfismos do gene da proteína de ligação à manose em pacientes infectados pelo vírus da imunodeficiência humana." reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2010. http://hdl.handle.net/10183/26618.

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A Proteína de Ligação à Manose (MBL) é um membro da família das colectinas humanas que atua como molécula de defesa e desempenha um papel importante na imunidade inata. A MBL se liga a carboidratos na superfície de microorganismos, desencadeando a opsonização e fagocitose. Essa ligação também resulta na ativação do sistema complemento. Já foi descrito que a MBL reconhece e se liga a proteína gp120 do Vírus da Imunodeficiência Humana-1 (HIV-1), mas o papel dessa molécula na infecção pelo HIV-1 ainda não está claro. Vários polimorfismos no gene MBL2 foram descritos como capazes de alterar a conf

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45

Freitas, Rossana Ghessa Andrade de. "Estudos dos polimorfismos dos genes da apolipoproteína E (ApoE) e do receptor de LDL (RLDL - A370T) em indivíduos jovens pertencentes ao estudo do Rio de Janeiro em seguimento de 28 Anos." Universidade do Estado do Rio de Janeiro, 2011. http://www.bdtd.uerj.br/tde_busca/arquivo.php?codArquivo=3875.

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior<br>Estudos demonstram a associação de alterações da apolipoproteína E (ApoE) e do receptor do LDL (RLDL) com a ocorrência de doenças cardiovasculares e dislipidemia. O objetivo principal deste trabalho foi investigar a associação entre genótipos diferenciais da ApoE e do RLDL com a persistência de alterações de variáveis lipídicas em indivíduos jovens acompanhados há 28 anos no Estudo do Rio de Janeiro (ERJ). Através de um estudo longitudinal, tipo coorte, investigou-se 56 indivíduos (35M) em três avaliações. Em A1 (13.301.53 anos), A

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46

Jurevic, Richard Joseph. "Genetic variations in human beta defensin genes and their relationship to oral health and disease /." Thesis, Connect to this title online; UW restricted, 2004. http://hdl.handle.net/1773/6386.

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47

Correa, Lucia Maria Armelin. "Estudo da região promotora do gene do colágeno XVIII humano." Universidade de São Paulo, 2007. http://www.teses.usp.br/teses/disponiveis/41/41131/tde-14092007-161305/.

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O colágeno XVIII é um componente das membranas basais com diversos domínios funcionais, como a endostatina e o domínio frizzled, que têm importante papel em processos celulares como proliferação e diferenciação. COL18A1 possui dois promotores alternativos: o promotor 1, que regula a síntese da variante NC11-303, e o promotor 2 responsável pelas variantes NC11- 728 e NC11-493, expressas por hepatócitos. Existe uma variação interindividual da endostatina circulante e da expressão do colágeno XVIII no fígado. A expressão do colágeno XVIII/endostatina foi correlacionada com a progressão tanto do h

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48

Joffe, Yael. "Dietary fat modulates the relationship between polymorphisms in the TNFA and IL-6 genes, and obesity and serum lipid concentrations in black and white South Afican women." Doctoral thesis, University of Cape Town, 2013. http://hdl.handle.net/11427/3253.

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Includes abstract.<br>Includes bibliographical references.<br>The primary aim of the thesis was to investigate associations between TNFA (TNFA-308 G>A and -238 G>A) and IL-6 (-174 G>C, IVS3+281 G>T, IVS4+869 A>G) sequence variants and obesity and serum lipid concentrations in black and white SA women. This included identifying sequence variants in the IL-6 gene with a reported high heterozygosity in both the white and black SA populations (rs1554606 and sr2069845). Dietary intake data of adequate reporters was then included in the analysis to investigate whether dietary fatty acid intake modul

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Jian, Zhengwen. "Genetic Diversity and Expression Variation in Human Cytochrome P450 Genes." University of Cincinnati / OhioLINK, 2008. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1203393700.

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Cortezzi, Sylvia Sanches. "Papilomavírus humano e polimorfismo do gene TP53 no carcinoma espinocelular de cabeça e pescoço /." São José do Rio Preto : [s.n.], 2002. http://hdl.handle.net/11449/92507.

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Resumo: O carcinoma espinocelular de cabeça e pescoço é uma neoplasia cujo principal fator de risco é o consumo de tabaco e/ou álcool. As infecções pelo HPV têm sido observadas nesse grupo de tumores. Os HPVs de alto risco podem induzir alterações calulares pela interação de suas proteínas E6 e E7 com as proteínas p53 e a pRb, respectivamente. As oncoproteínas são insuficientes para o desenvolvimento do fenótipo maligno, sugerindo a presença de outros cofatores, como a susceptibilidade genética. O gene TP53 possui um polimorfismo que resulta na presença de uma prolina ou de uma arginina na pos

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