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Rozprawy doktorskie na temat „Folic acid Metabolism”

Autor: Grafiati

Data publikacji: 4 czerwca 2021

Data aktualizacji: 25 lipca 2025

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1

Padmanabhan, Nisha. "The biological and molecular effects of abnormal folate metabolism." Thesis, University of Cambridge, 2014. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.708242.

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2

Bufalino, Andreia 1983. "Analise da suplementação vitaminica e de polimorfismos em genes da via metabolica do acido folico em mães de individuos com fissuras labio-palatinas não-sindromicas." [s.n.], 2010. http://repositorio.unicamp.br/jspui/handle/REPOSIP/288724.

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Orientador: Ricardo Della Coletta<br>Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Odontologia de Piracicaba<br>Made available in DSpace on 2018-08-15T05:46:12Z (GMT). No. of bitstreams: 1 Bufalino_Andreia_M.pdf: 1848465 bytes, checksum: e05d7021dc64d36ed2556bd7fc4b97fd (MD5) Previous issue date: 2010<br>Resumo: A fissura labial e/ou palatina (FL/P) não-sindrômica é uma malformação congênita do lábio e/ou palato com alta frequência na população brasileira. A etiologia das fissuras é complexa e conta com a participação de fatores genéticos e ambientais. Inúmeros est

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3

Chan, Manuel. "Characterization of the 5' region of the human methylenetetrahydrofolate reductase, MTHFR, gene." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1999. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape7/PQDD_0026/MQ50734.pdf.

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4

Kapil, Aditya. "Transport and metabolism of pyridoxine and folic acid in the rat small intestine." Thesis, University of York, 1994. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.284168.

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5

Weisberg, Ilan S. "Evaluation of common polymorphisms in methylenetetrahydrofolate reductase (MTHFR) and betaine-homocysteine methyltransferase (BHMT)." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1999. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape2/PQDD_0032/MQ64479.pdf.

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6

Crott, Jimmy. "The effects of folic acid deficiency and defects in folate metabolism on chromosome damage in vitro." Title page, table of contents and abstract only, 2001. http://web4.library.adelaide.edu.au/theses/09PH/09phc9515.pdf.

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Reprints of the author's previously published articles included as an appendix. Bibliography: leaves 165-188. "This thesis describes a series of experiments that aimed to investigate the effects of folic acid deficiency and defects in folate metabolism on chromosome damage rates in human lymphocytes. The accumulation of chromosome damage over time is an important issue because it is thought to contribute to the mechanism of ageing and the aetiology of diseases of age such as cancer and Alzheimer's disease."

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7

Nimchuk, Anastasia Katherine. "Homocysteine metabolism as a response to aging and folic acid intake in Fisher 344 rats." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 2000. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape2/PQDD_0009/MQ59858.pdf.

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8

Sibani, Sahar. "Genetic and nutritional folate deficiency : implications for homocystinuria and intestinal neoplasia." Thesis, McGill University, 2000. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=31539.

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Folate deficiency, a prevalent vitamin deficiency in America, can stem from environmental and/or genetic causes. The most common inborn error of folate metabolism is deficiency of methylenetetrahydrofolate reductase (MTHFR), which catalyzes the reduction of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate. Severe MTHFR deficiency results in hyperhomocysteinemia and homocystinuria; patients present with developmental delay, and various neurological and vascular disorders. This thesis describes three mutations identified in the MTHFR locus in patients with severe deficiency: 1025T&rarr

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9

Öhrvik, Veronica. "Folate bioavailability in vitro experiments and human trials /." Uppsala : Dept. of Food Science, Swedish University of Agricultural Sciences, 2009. http://epsilon.slu.se/200963.pdf.

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10

Lawrance, Andrea Karin. "The impact of genetic and nutritional disturbances of folate metabolism on tumourigenesis in a mouse model of colorectal cancer /." Thesis, McGill University, 2007. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=111885.

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The relationship between colorectal cancer (CRC) and folate metabolism is complex. Dietary folate, depending on the timing and dose, may either prevent or enhance tumour initiation and/or growth, and polymorphisms in the genes encoding folate-metabolising enzymes may also modulate risk. In this thesis, the Apcmin/+ mouse model of CRC was used to investigate the effect of nutritional and genetic disturbances in folate metabolism on tumourigenesis and to examine various mechanisms.<br>The reduced folate carrier I (RFC1) is responsible for the cellular uptake and intestinal absorption of folate,

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11

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

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

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12

Larsson, Susanna C. "Diet and gastrointestinal cancer : one-carbon metabolism and other aspects /." Stockholm, 2006. http://diss.kib.ki.se/2006/91-7140-955-6/.

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Guimarães, José Luiz Miranda 1959. "Influência de polimorfismos gênicos do metabolismo do ácido fólico na susceptibilidade ao adenocarcinoma colorretal esporádico = Influence of genetic polymorphisms in metabolism of folic acid in susceptibility to sporadic colorectal adenocarcinoma." [s.n.], 2012. http://repositorio.unicamp.br/jspui/handle/REPOSIP/308622.

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Orientadores: Carmen Silvia Passos Lima, Maria de Lourdes Setsuko Ayrizono<br>Tese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas<br>Made available in DSpace on 2018-08-21T01:40:41Z (GMT). No. of bitstreams: 1 Guimaraes_JoseLuizMiranda_D.pdf: 4302732 bytes, checksum: 2d6604590176d72460b4a606d6ba2dd6 (MD5) Previous issue date: 2012<br>Resumo: O desenvolvimento de câncer colorretal (CCR) é resultado de uma complexa interação de variáveis, incluindo elementos externos, como a exposição a agentes ambientais e dietéticos, e fatores internos, de natureza somática ou

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14

Tran, Pamela. "Regulation of mouse methylenetetrahydrofolate reductase (Mthfr) and its role in early development." Thesis, McGill University, 2002. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=38426.

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Methylenetetrahydrofolate reductase (MTHFR) synthesizes 5-methyltetrahydrofolate, a methyl donor for conversion of homocysteine to methionine. A common thermolabile variant causes mild MTHFR deficiency, induces mild hyperhomocysteinemia when plasma folate levels are low and increases risk for neural tube defects (NTD) and pregnancy loss. To increase our understanding of Mthfr regulation, the 5' and 3' regions of the mouse cDNA and gene were characterized. These studies revealed two major promoters, an internal coding exon in the 5'UTR, alternative transcriptional and translational start sites

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15

Chen, Zhoutao 1972. "A mouse model for methylenetetrahydrofolate reductase deficiency and biochemical studies of the recombinant human enzyme /." Thesis, McGill University, 2001. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=37878.

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Hyperhomocysteinemia is a risk factor for cardiovascular disease and stroke. Nutritional and/or genetic disruptions in homocysteine metabolism can cause hyperhomocysteinemia. Mild methylenetetrahydrofolate reductase (MTHFR) deficiency due to the 677C → T mutation in the MTHFR gene is the most common genetic cause of hyperhomocysteinemia. The 677C → T variant is associated with an increased risk for neural tube defects, pregnancy complications, schizophrenia and Down syndrome, and with a decreased risk for colon cancer and leukemia. This variant is also a potential risk factor for vas

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16

Lyzbicki, Barnaba <1983&gt. "The impact of polymorphisms in P-gp, DNA repair and folic acid metabolism genes in newly diagnosed multiple myeloma patients treated with thalidomide plus dexamethasone, with or without bortezomib." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2012. http://amsdottorato.unibo.it/4802/1/lyzbicki_barnaba_tesi.pdf.

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The principle aim of this study was to investigate biological predictors of response and resistance to multiple myeloma treatment. Two hypothesis had been proposed as responsible of responsiveness: SNPs in DNA repair and Folate pathway, and P-gp dependent efflux. As a first objective, panel of SNPs in DNA repair and Folate pathway genes, were analyzed. It was a retrospective study in a group of 454, previously untreated, MM patients enrolled in a randomized phase III open-label study. Results show that some SNPs in Folate pathway are correlated with response to MM treatment. MTR genotype was

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17

Lyzbicki, Barnaba <1983&gt. "The impact of polymorphisms in P-gp, DNA repair and folic acid metabolism genes in newly diagnosed multiple myeloma patients treated with thalidomide plus dexamethasone, with or without bortezomib." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2012. http://amsdottorato.unibo.it/4802/.

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The principle aim of this study was to investigate biological predictors of response and resistance to multiple myeloma treatment. Two hypothesis had been proposed as responsible of responsiveness: SNPs in DNA repair and Folate pathway, and P-gp dependent efflux. As a first objective, panel of SNPs in DNA repair and Folate pathway genes, were analyzed. It was a retrospective study in a group of 454, previously untreated, MM patients enrolled in a randomized phase III open-label study. Results show that some SNPs in Folate pathway are correlated with response to MM treatment. MTR genotype was

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18

Pooya, Shabnam. "Effets sur le métabolisme énergétique mitochondrial myocardique et hépatique de la carence en donneurs de méthyles au cours de la gestation et de l'allaitement chez le raton." Thesis, Université de Lorraine, 2012. http://www.theses.fr/2012LORR0035/document.

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Au cours du développement, les modifications du métabolisme des monocarbones liées à une malnutrition peuvent être délétères autant pour la mère que pour le nouveau-né. De plus, les conséquences à long terme d'une carence en période gestationnelle et périnatale sont mal connues, notamment en ce qui concerne les pathologies cardiaques et hépatiques. Nous avons mis en oeuvre un modèle nutritionnel de rates adultes carencées en donneurs de groupements méthyles (vitamines B12, folates et choline) avant la gestation. Ces micronutriments participent à la régulation de différentes enzymes impliquées

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19

Knock, Erin Heather 1981. "Long-term dietary folate deficiency and intestinal tumor development in mice." Thesis, McGill University, 2008. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=115689.

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Epidemiological evidence linking dietary folate deficiency and risk for colorectal cancer is conflicting. Studies using animal models indicate that timing, dose and presence of pre-malignant lesions will influence whether folate deficiency prevents or promotes tumor formation. In this thesis a new model of spontaneous tumor formation due to long-term dietary folate deficiency alone, in non-transgenic mice and without carcinogen induction, is developed. The mechanisms by which folate deficiency might influence cancer risk are also examined.<br>BALB/c mice, with or without a null allele in a key

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20

LOTTO, VALENTINA. "Nutrient-gene interactions within one-carbon metabolism and effects on epigenetic regulation through dna methylation in peripheral blood mononuclear cells." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2010. http://hdl.handle.net/10281/18016.

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Epigenetics is a field of molecular biology that copes with the study of gene function regulation without variations in DNA structure or nucleotide sequences. Among the main epigenetic phenomema in eukaryotic cells there are DNA methylation and post-traslational mechanisms among which the major are histone methylation and acetylation. Epigenetic changes are potentially reversible phenomena that are controlled also by nutritional factors as the methyl-donors involved in the folate cycle. Plasma levels of B vitamins, among which “in primis” plasma folate concentrations, are implicated in epig

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21

Balmain, Bryce. "Thermoregulatory function during exercise in the heat in heart failure." Thesis, Griffith University, 2018. http://hdl.handle.net/10072/381512.

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This thesis examined thermoregulatory responses in heart failure (HF) patients during exercise at a fixed relative intensity, and at an intensity that elicited a fixed rate of metabolic heat production (Hprod) in a warm environment (30°C). Additionally, the efficacy of a chronic, high-dose (5mg/d for 6wk) pharmacological intervention (folic acid supplementation) as a strategy for improving skin blood flow (SkBF) responses and thus, thermoregulatory control in these patients during exercise was assessed. The findings of three experiments conducted to achieve these aims are presented in this the

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22

Gimenez-Martins, Ana Paula D'alarme. "Marcadores moleculares envolvidos no metabolismo do folato em pacientes com câncer de mama." Faculdade de Medicina de São José do Rio Preto, 2015. http://hdl.handle.net/tede/330.

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Submitted by Fabíola Silva (fabiola.silva@famerp.br) on 2017-02-10T14:40:41Z No. of bitstreams: 1 anapauladgimenezmartins_dissert.pdf: 1307679 bytes, checksum: 0f5d1de43a9455ab4d49ffbd81465af6 (MD5)<br>Made available in DSpace on 2017-02-10T14:40:41Z (GMT). No. of bitstreams: 1 anapauladgimenezmartins_dissert.pdf: 1307679 bytes, checksum: 0f5d1de43a9455ab4d49ffbd81465af6 (MD5) Previous issue date: 2015-09-25<br>Coordenação de Aperfeiçoamento de Pessoal de Nível Superior - CAPES<br>Introduction: Breast cancer is the second most common cancer in the world, being the most common among women.

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23

Santos, Mariana Fernanda. "Impacto de polimorfismos de genes do metabolismo do folato e do microRNA hsa-mir-149 no risco para cardiopatias congênitas em indivíduos com síndrome de Down." Faculdade de Medicina de São José do Rio Preto, 2016. http://hdl.handle.net/tede/398.

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Submitted by Fabíola Silva (fabiola.silva@famerp.br) on 2018-02-15T12:46:24Z No. of bitstreams: 1 marianafernandadossantos_dissert.pdf: 1735247 bytes, checksum: 1bde0ab992e930a0190504964f47726e (MD5)<br>Made available in DSpace on 2018-02-15T12:46:25Z (GMT). No. of bitstreams: 1 marianafernandadossantos_dissert.pdf: 1735247 bytes, checksum: 1bde0ab992e930a0190504964f47726e (MD5) Previous issue date: 2016-12-01<br>Fundação de Amparo à Pesquisa do Estado de São Paulo - FAPESP<br>Introduction: Congenital heart defects (CHD) are present in approximately 40 to 60% of individuals with Down syndro

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24

Bezerra, Jo?o Felipe. "Estudo de polimorfismos em genes relacionados ao metabolismo do ?cido f?lico e sua associa??o com o desenvolvimento de fendas orais n?o-sindr?micas." Universidade Federal do Rio Grande do Norte, 2010. http://repositorio.ufrn.br:8080/jspui/handle/123456789/13483.

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Made available in DSpace on 2014-12-17T14:16:32Z (GMT). No. of bitstreams: 1 JoaoFB_DISSERT.pdf: 2759392 bytes, checksum: db32fc8b33f7b2673ea9c102af48910f (MD5) Previous issue date: 2010-02-23<br>Funda??o de Amparo a Pesquisa do Estado de S?o Paulo<br>The congenital facial clefts are characterized by incomplete formation of the structures that separate the oral and nasal cavity. It is known that several environmental and genetic factors are involved in its development, among these, polymorphisms associated with folic acid metabolism have been investigated. In this sense, the objective was to

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25

Felix, Temis Maria. "Metabolismo da homocisteína e defeitos do tubo neural : um estudo bioquímico e molecular no sul do Brasil." reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2002. http://hdl.handle.net/10183/3700.

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Os defeitos de fechamento de tubo neural constituem uma das malformações mais freqüentes na espécie humana, apresentando alta morbi-mortalidade. Sua etiologia é considerada multifatorial, estando envolvidos fatores genéticos e ambientais. Estes fatores estão relacionados principalmente com o metabolismo da homocisteína. Realizamos um estudo de caso-controle com o objetivo de estudar os fatores bioquímicos e genéticos relacionados ao DTN na nossa população. Em pares de afetados com DTN e suas mães e pares de pacientes normais e suas mães foram avaliados dosagem de folato, vitamina B12, homocist

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26

Sambo, Patrícia Muíla Bragança. "Folic acid, one-carbon metabolism, MTHFR polymorphisms and pathologies." Master's thesis, 2014. http://hdl.handle.net/10400.26/13079.

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Dissertação para obtenção do grau de Mestre no Instituto Superior de Ciências da Saúde Egas Moniz<br>The interaction between folate and methylenetetrahydrofolate reductase (MTHFR) gene is an example of a strong gene-nutrient interaction. MTHFR 677C→T polymorphism may be associated with homocysteine in the modulation of the cardiovascular disease (CVD). Additionally, the interaction between the polymorphism and folate has been linked to a protective effect in individuals with colorectal cancer (CRC). The aim of this work is to assess the possible association between MTHFR 677C→T polymorphism,

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27

Woo, Wai Hong Connie. "Role of hyperhomocysteinemia in liver injury and abnormal lipid metabolism (protective effect of folic acid supplementation)." 2007. http://hdl.handle.net/1993/2758.

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Hyperhomocysteinemia, a condition of elevated blood homocysteine level, is an independent risk factor for cardiovascular diseases. Folic acid can effectively reduce blood homocysteine levels. Recent studies have shown that hyperhomocysteinemia is also associated with liver disorders. However, the underlying mechanisms remain unclear. The general objective of my study was to investigate the biochemical and molecular mechanisms of homocysteine-induced liver injury and abnormal lipid metabolism. Hyperhomocysteinemia was induced in Sprague-Dawley rats by feeding a high-methionine diet for 4 weeks.

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"The effects of folic acid deficiency and defects in folate metabolism on chromosome damage in vitro / Jimmy Walter Crott." Thesis, 2001. http://hdl.handle.net/2440/21696.

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Reprints of the author's previously published articles included as an appendix.<br>Bibliography: leaves 165-188.<br>xiv, 189 leaves : ill. (some col.) ; 30 cm.<br>"This thesis describes a series of experiments that aimed to investigate the effects of folic acid deficiency and defects in folate metabolism on chromosome damage rates in human lymphocytes. The accumulation of chromosome damage over time is an important issue because it is thought to contribute to the mechanism of ageing and the aetiology of diseases of age such as cancer and Alzheimer's disease."<br>Thesis (Ph.D.)--University of A

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29

Poernama, Ferry. "Evidence of altered choline metabolism in the recessive white skin chicken and interaction of dietary folic acid (pteroylglutamic acid) and zinc on breeder hen and progeny performance." 1990. http://catalog.hathitrust.org/api/volumes/oclc/23044754.html.

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