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Dissertations / Theses on the topic 'Tretinoin – Metabolism – Genetic aspects'

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Published: 4 June 2021

Last updated: 5 February 2022

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1

Fordyce, Karen. "Aspects of genetic and environmental control of phase II metabolism." Thesis, University of Bath, 1987. https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.375338.

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2

Cai, Guo Qin 1966. "Molecular genetic analysis of acetoacetate metabolism in Sinorhizobium meliloti." Thesis, McGill University, 2001. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=37876.

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Many bacteria accumulate carbon stores as poly-3-hydroxybutyrate (PHB) when growth is limited but carbon availability is not. This stored carbon can then be utilized during conditions of limited carbon availability. The net PHB accumulation in the cell is dependent on the balance between PHB synthesis and degradation. Sinorhizobium meliloti accumulates PHB in the free-living stage but not in the symbiotic stage. The physiological role of the PHB cycle in S. meliloti is unknown. As a first step to understand the genetics of PHB degradation, transposon-generated mutants that were not able to use

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3

Cirne, Lima Magda. "Aspects of metabolism in Bacillus stearothermophilus NUB3621 : a genetic and molecular approach." Thesis, University of Sheffield, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.296811.

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4

Horton, Judeline Winifred. "Physiological and genetic aspects of the utilisation of methylated amines in M. methylotrophus." Thesis, University of Leicester, 1987. http://hdl.handle.net/2381/35386.

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M. methulotrophus is a Gram negative obligate methylotroph depending on the presence of reduced carbon compounds containing one or more carbon atoms, but containing no carbon-carbon bonds. This organism can synthesize all its cellular constituents from methanol, trimethylamine, dimethylamine, or methylamine. Conversion of methanol and the methylated amines to cell carbon involves the ultimate oxidation to formaldehyde and ammonia. While the methanol dehydrogenase is produced constitutively, the enzymes involved in the assimilation of the methylated amines are inducible. All three enzymes of th

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5

Li, Yan, and 李艷. "Genetic analysis of Alzheimer's disease associated genes: a perspective from abnormal cholesterol metabolism." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2008. http://hub.hku.hk/bib/B39793758.

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6

Cao, Tingting, and 曹婷婷. "Oncogene EIF5A2 promotes cell growth and proliferation by reprograming cellular metabolism in hepatocellular carcinoma." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2014. http://hdl.handle.net/10722/208001.

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7

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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8

Dzivenu, Oki Kwoshi. "Structure-based mutational analysis of S. Pombep13suc1." Thesis, University of Oxford, 1999. http://ora.ox.ac.uk/objects/uuid:415eb476-20db-4876-87d1-7c041caf70b4.

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p13<sup>suc1</sup> from schizosaccharomyces pombe is a member of a family of non-enzymatic cell cycle regulatory proteins called CKS for <strong>C</strong>yclin-<strong>D</strong>ependent kinases <strong>S</strong>ubunit. Other members of this family include CKS1 (S. cerevisiae</em?), CksHsl and CksHs2 (Homo sapiens). The CDKs (CDK1-CDK8) for <strong>C</strong>yclin-<strong>D</strong>ependent <strong>K</strong>inases are a class of Ser/Thr kinases that regulate the cell cycle. The suc1<sup>+</sup> gene was initially identified as a seppresor of certain CDKl temperature sensitive mutations. Des

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9

Hendricks, Roshan. "Genetic analysis of the role of androgen metabolism in the pathogenesis of prostate cancer." Thesis, Stellenbosch : Stellenbosch University, 2004. http://hdl.handle.net/10019.1/49973.

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Thesis (MSc)--Stellenbosch University, 2004.<br>ENGLISH ABSTRACT: Prostate cancer (CaP) has the highest incidence of any malignancy affecting South African males. The aetiology of prostate carcinoma indicate that ethnicity is one of the most important risk factors. The causes of these ethnic differences are unknown but presumably involve both environmental and genetic factors. Carcinoma of the prostate is androgen dependent, and it has been suggested that variations in androgen metabolism and synthesis may affect an individuals' risk. Therefore, genes involved in these pathways are cand

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10

Thaha, Fathuma Zuleikha. "Characterization of acetate metabolism genes in Sinorhizobium, Rhizobium, meliloti." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1999. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape7/PQDD_0016/MQ55093.pdf.

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11

Jitrapakdee, Sarawut. "Characterisation of the pyruvate carboxylase gene and studies on the regulation of its expression in rat /." Title page, contents and summaryn only, 1999. http://web4.library.adelaide.edu.au/theses/09PH/09phj6117.pdf.

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12

Buist, Neil R. M. "Fifty years in inborn errors of metabolism : from urine ferric chloride to mass spectrometry and gene analysis." Thesis, University of St Andrews, 2014. http://hdl.handle.net/10023/12724.

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Prefatory material introducing a collection of articles spanning fifty years of research into inborn errors of metabolism. Table of Contents: 1. Introduction -- 2. Background information about inborn errors of metabolism -- 3. Lessons from phenylketonuria [PKU] -- 4. My role in developing new medical foods -- 5. My role in solving an epidemic of benzyl alcohol poisoning in premature infants -- 6. My role in galactosaemia research -- 7. My start in the metabolic world - screening tests in urine -- 8. My experiences in disaster relief -- 9. My first appearance in the medical literature -- 10. A

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13

Dupuis, Lucie. "Molecular basis of biotin-responsive multiple carboxylase deficiency." Thesis, McGill University, 1996. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=27309.

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Multiple carboxylase deficiency (MCD) results from a decreased activity of holocarboxylase synthetase (HCS) which is responsible for the biotinylation of the four biotin-dependent carboxylases found in humans. The disease can be treated with pharmacologic doses of oral biotin (biotin-responsiveness). The cDNA for HCS contains a biotin-binding domain deduced by analogy with the sequence and crystal structure of the E. coli BirA biotin ligase. E. coli birA$ sp-$ mutations causing biotin-auxotrophy all localize to this region. Of six point mutations I have identified in MCD patients, four localiz

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14

Léon, Del Rio Alfonso. "Molecular genetics of holocarboxylase synthetase deficiency." Thesis, McGill University, 1995. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=29074.

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The objective of this thesis was to determine the molecular basis of neonatal multiple carboxylase deficiency (MCD) produced by an impairment in holocarboxylase synthetase (HCS) activity and the origin of the biotin-responsiveness that characterizes this disease. To determine HCS activity, I developed a peptide substrate and used the biotinylation system of E: coli to determine its properties. C-terminal fragments of the $ alpha$ subunit of human propionyl-CoA carboxylase (PCC-$ alpha$) were expressed in E. coli and site-directed mutagenesis was used to define the residues required for biotiny

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15

Dumas, Richard. "The intracellular localization of holocarboxylase synthetase." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1999. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape7/PQDD_0018/MQ55050.pdf.

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16

Campeau, Eric. "Molecular genetics of biotin-dependent enzymes : mutation analysis, expression and biochemical studies." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1999. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape7/PQDD_0019/NQ55308.pdf.

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17

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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18

Boase, Natasha Anne. "The role of the acrB and creD genes in carbon catabolite repression in Aspergillus nidulans /." Title page, table of contents and abstract only, 2004. http://web4.library.adelaide.edu.au/theses/09PH/09phb6628.pdf.

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19

Pocathikorn, Anothai. "Low density lipoprotein receptor-related protein (LRP) and its mRNA : influence of genetic polymorphisms, a fat load and statin therapy." University of Western Australia. School of Surgery and Pathology, 2006. http://theses.library.uwa.edu.au/adt-WU2006.0117.

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[Truncated abstract] The low density lipoprotein receptor-related protein (LRP), a member of the low-density lipoprotein (LDL) receptor gene family is involved in numerous biological processes including lipoprotein metabolism. This thesis concerns investigations into some aspects of LRP metabolism/regulation and possible roles in coronary artery disease (CAD). Specific aims were: to investigate the association between polymorphisms in the LRP gene and in its associated protein, the lipoprotein receptor-associated protein (RAP), with the risk of CAD; to extensively examine the influence of the

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20

Scholtz, C. L. (Charlotte Latitia). "Molecular investigation into regulatory regions of the LDLR gene involved in lipoprotein metabolism." Thesis, Stellenbosch : Stellenbosch University, 2001. http://hdl.handle.net/10019.1/52345.

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Thesis (PhD) -- University of Stellenbosch, 2001.<br>ENGLISH ABSTRACT: The advent of the new millennium saw the complete sequencing of the entire human genome. Only approximately 30 000 genes, much less than was initially predicted, have been identified to be responsible for the genetic diversity in humans. This discovery has prompted a shift in the approach to disease research, since one gene can be involved in numerous diseases. This phenomenon seems to be especially true for the low-density lipoprotein receptor (LDLR) gene. Various substances beside sterols can induce transcription of

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21

Litjens, Tom. "The molecular genetics of mucopolysaccharidosis type VI /." Title page, contents and abstract only, 1994. http://web4.library.adelaide.edu.au/theses/09PH/09phl776.pdf.

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22

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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23

Yamanishi, Douglas Tadao. "The effect of chemical carcinogens on DNA bypass replication and the development of in vitro and in vivo models for chemical mutagenesis." Diss., The University of Arizona, 1989. http://hdl.handle.net/10150/184689.

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In the context of the somatic mutation theory of chemical carcinogenesis, mutations are thought to arise during the replication of DNA past carcinogen-DNA adducts. The work described in this thesis deals with the testing of a hypothetical mechanism whereby mammalian cells are able to replicate their DNA past polycyclic aromatic hydrocarbon DNA adducts. The second objective of this thesis work was to develop both in vivo and in vitro models to study the induction of mutations in a target human gene by chemical carcinogens from two different classes, polycyclic aromatic hydrocarbons and nitrosam

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24

Hallendorff, Michelle-Angelique. "Ironing out haemochromatosis : a study of an Indian family." Thesis, Stellenbosch : Stellenbosch University, 2008. http://hdl.handle.net/10019.1/21458.

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Thesis (MSc)--University of Stellenbosch, 2008.<br>ENGLISH ABSTRACT: Iron metabolism disorders comprise the most common disorders in humans. Hereditary haemochromatosis (HH) is a common condition resulting from inappropriate iron absorption. The most common form of the disease (Type 1) is associated with mutations in the HFE gene. The C282Y homozygous genotype accounts for approximately 80% of all reported cases of HH within the Caucasian population. A second HFE mutation, H63D, is associated with less severe disease expression. The C282Y mutation is extremely rare in Asian and African p

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25

Booley, Fadwah. "Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload in the South African population." Thesis, Stellenbosch : University of Stellenbosch, 2007. http://hdl.handle.net/10019.1/2220.

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Thesis (MSc (Genetics))—University of Stellenbosch, 2007.<br>Hereditary haemochromatosis (HH), a common autosomal recessive disease, is characterized by increased iron absorption leading to progressive iron accumulation in organs such as the liver, heart and pancreas. In the South African population the disease is prevalent in individuals of Caucasian origin, with a carrier frequency of one in six for the C282Y mutation in the HFE gene. We investigated the role of genes implicated in iron metabolism, including the high-iron gene (HFE), haem oxgenase-1 gene (HMOX1), solute carrier family 40 (i

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26

McGregor, Nathaniel Wade. "Characterization of the promoter region of the HAMP gene implicated in iron metabolism and its possible association with Oesophageal cancer in the black South African population." Thesis, Stellenbosch : University of Stellenbosch, 2009. http://hdl.handle.net/10019.1/1648.

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Thesis (MSc (Genetics))--University of Stellenbosch, 2009.<br>ENGLISH ABSTRACT: Oesophageal cancer (OC) is the sixth leading cause of cancer related deaths in the world with approximately 300 000 new cases reported each year. OC may be characterized into two forms with 90% of cases presenting as squamous-cell carcinoma (SCC) and the remaining 10% as adenocarcinoma (ADC). Several factors have been attributed to the development of OC, including oesphageal injury and/or irritation, chronic inflammation and excess iron associated with enhanced tumour growth. The HAMP gene codes for a 25 amino-aci

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27

Cowie, Danielle. "Iron and Tuberculosis pathogenesis." Thesis, Stellenbosch : Stellenbosch University, 2014. http://hdl.handle.net/10019.1/86566.

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Thesis (MSc)--Stellenbosch University, 2014.<br>ENGLISH ABSTRACT: Iron is an essential element that plays a role in the process of respiration, oxygen transport and as a principle cofactor to several enzymes. Iron homeostasis is a finely regulated process since excess levels become toxic to healthy cells via the production of reactive oxygen species. A plethora of genes that control several key points throughout this regulatory process have been identified. Research focusing on changes in expression levels and downstream functional effects of these genes has become increasingly important over

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28

Nevrivy, Daniel. "Cloning and characterization of GRASP, a novel retinoic acid-induced gene from P19 embryonal carcinoma cells." Thesis, 2001. http://hdl.handle.net/1957/32483.

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Retinoic acid (RA) exerts important effects in the processes of vertebrate development, cellular growth and differentiation, and homeostasis. However, the mechanisms of action of RA in the control of cellular and developmental processes are incompletely understood, as the retinoid target genes have not been fully characterized. The goal of these studies described herein was to contribute towards a greater understanding of the cellular effects of retinoids through the identification and characterization of an RA-induced gene from mouse P19 embryonal carcinoma cells. The predicted amino acid seq

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29

"Effects of over-expressing UDP-glucuronosyltransferase 1A1 on xenobiotic and therapeutic drug metabolism." 2006. http://library.cuhk.edu.hk/record=b5892985.

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Leung Hau Yi.<br>Thesis (M.Phil.)--Chinese University of Hong Kong, 2006.<br>Includes bibliographical references (leaves 116-131).<br>Abstracts in English and Chinese.<br>Thesis Committee --- p.in<br>Acknowledgement --- p.II<br>Abstract --- p.III<br>摘要 --- p.V<br>Table of Contents --- p.VII<br>List of Figures --- p.X<br>List of Tables --- p.XIII<br>Appendix Abbreviations --- p.XIV<br>Chapter Chapter 1 --- Introduction --- p.1<br>Chapter 1.1 --- Breast Cancer --- p.1<br>Chapter 1.2 --- Development of Breast Cancer --- p.2<br>Chapter 1.3 --- Risk Factors of Breast Cancer --- p.3<br>C

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30

O'Connor, Susan. "Molecular analysis of genes involved in carbon catabolite repression in Aspergillus nidulans / Susan O'Connor." 1999. http://hdl.handle.net/2440/19386.

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Erratum pasted onto front end-paper.<br>Copies of author's previously published article inserted.<br>Bibliography: leaves 167-180.<br>180 leaves, [51] leaves of plates : ill. (chiefly col.) ; 30 cm.<br>Title page, contents and abstract only. The complete thesis in print form is available from the University Library.<br>Reanalyses the effects of the absence of CreA in the cell, raises antibodies for the detection of CreA and identifies new loci involved in carbon catabolite repression by using different genetic selection methods.<br>Thesis (Ph.D.)--University of Adelaide, Dept. of Genetics, 199

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31

Tagliabracci, Vincent S. "Metabolism of the covalent phosphate in glycogen." Thesis, 2010. http://hdl.handle.net/1805/2254.

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Indiana University-Purdue University Indianapolis (IUPUI)<br>Glycogen is a highly branched polymer of glucose that functions to store glucose residues for future metabolic use. Skeletal muscle and liver comprise the largest glycogen reserves and play critical roles in maintaining whole body glucose homeostasis. In addition to glucose, glycogen contains small amounts of covalent phosphate of unknown function, origin and structure. Evidence to support the involvement of glycogen associated phosphate in glycogen metabolism comes from patients with Lafora Disease. Lafora disease is an autosoma

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32

Oglesby, Amanda Gail. "Iron regulation of acid resistance in Shigella flexneri." Thesis, 2005. http://hdl.handle.net/2152/2326.

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33

"Pathogenesis of retinoic acid-induced developmental ocular defects studied using mouse models." Thesis, 2009. http://library.cuhk.edu.hk/record=b6074726.

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As exogenously administered RA suppressed the expression of the RA synthesizing enzymes, further investigation on whether this would lead to deficiency in endogenous RA concentrations was conducted. Results showed that exogenously administered RA significantly reduced the endogenous RA level in the head region with C57 embryos showing a greater reduction than ICR embryos.<br>In addition, detailed morphological and histological studies were conducted to determine if RA treatment caused early embryonic changes with strain difference. When compared with ICR embryos, C57 embryos exhibited more pro

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34

Amantana, Adams. "Characterization of rodent selenoprotein W promoter." Thesis, 2003. http://hdl.handle.net/1957/30187.

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Rat selenoprotein W (SeW) promoter activity was investigated using different concentrations of cadmium, copper, and zinc. Two fragments (404bp and 1265bp) of the SeW promoter, containing a single metal response element (MRE), were ligated into the multiple cloning site of a pGL3-Basic reporter plasmid. The constructs were transfected into cultured rat C6 (glial) and L8 (myoblast) cells and promoter activity measured by means of luciferase reporter gene fused to the SeW promoter fragments in the reporter plasmid. With post-transfection exposure of these cell lines to these metals, copper and zi

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35

Roy, Preeti. "Distribution of proteins involved in carbon catabolite repression in Aspergillus nidulans." 2008. http://hdl.handle.net/2440/51605.

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Carbon catabolite repression (CCR) is a mechanism by which micro-organisms preferentially utilize more easily metabolizable carbon sources in comparison to less easily metabolizable carbon sources. It prevents the organisms from unnecessary expenditure of energy and enables them to exploit the nutrients in appropriate manner. It represents a complex system of gene regulation. The main aim of this study was to study the intracellular localization of proteins involved in CCR including CreA, CreB, CreC and CreD in A. nidulans in repressing and derepressing conditions. The major regulatory protein

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36

"Bmi-1 promotes the invasion and metastasis and its elevated expression is correlated with advanced stage of breast cancer." Thesis, 2010. http://library.cuhk.edu.hk/record=b6075058.

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Background. B-lymphoma Moloney murine leukemia virus insertion region-1 (Bmi-1) acts as an oncogene in various cancer such as non-small cell lung cancer, colon cancer, gastric cancer, bladder cancer and nasopharyngeal cancer (NPC).<br>Methods. Immunohistochemistry was performed to evaluate Bmi-1 expression in 252 breast cancer samples. The correlations were analyzed between Bmi-1 expression and clinicopathologic parameters, including age, tumor size, lymph nodal involvement, distant metastasis, clinical stages, hormone receptor (ER, PR) and Human Epidermal Growth Factor Receptor 2 (HER-2). The

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37

Anuradha, Valiya Kambrath. "Testing the reliability and selectivity of different bone-cell-specific Cre- expressing mouse models for studying bone cell metabolism." Thesis, 2015. http://hdl.handle.net/1805/7942.

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Indiana University-Purdue University Indianapolis (IUPUI)<br>The Cre/loxP system is a tool for targeted recombination of DNA. For applying Cre recombinase-mediated genome modifications, there is a requirement for reliable, high-fidelity, and specific transgenic expression of the Cre recombinase. This study focuses on the reliability of different bone cell specific Cre models in the Cre/loxP system. In this study, DMP1-Cre transgenic mouse which has a transgene driven by DMP1 promotor that allows Cre-expression only in late stage osteoblasts and osteocytes was used. Ctsk-Cre mouse with a driven

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Furness, Denise Lyndal Fleur. "Genome damage and folate nutrigenomics in uteroplacental insufficiency." 2007. http://hdl.handle.net/2440/57508.

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Pregnancy complications associated with placental development affect approximately one third of all human pregnancies. Genome health is essential for placental and fetal development, as DNA damage can lead to pregnancy loss and developmental defects. During this developmental phase rapid DNA replication provides an increased opportunity for genome and epigenome damage to occur[1]. Maternal nutrition is one of the principal environmental factors supporting the high rate of cell proliferation and differentiation. Folate functions in one-carbon metabolism and regulates DNA synthesis, DNA repair a

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39

Garyali, Punitee. "Lafora Disease: Mechanisms Involved in Pathogenesis." Thesis, 2014. http://hdl.handle.net/1805/5903.

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Indiana University-Purdue University Indianapolis (IUPUI)<br>Lafora disease is a neurodegenerative disorder caused by mutations in either the EPM2A or the EPM2B gene that encode a glycogen phosphatase, laforin and an E3 ubiquitin ligase, malin, respectively. A hallmark of the disease is accumulation of insoluble, poorly branched, hyperphosphorylated glycogen in brain, muscle and heart. The laforin-malin complex has been proposed to play a role in the regulation of glycogen metabolism and protein degradation/quality control. We evaluated three arms of protein quality control (the autophagolysos

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Wang, Zhixing. "Transcriptional regulation of mouse epidermal permeability barrier development and homeostasis by Ctip2." Thesis, 2012. http://hdl.handle.net/1957/31570.

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Skin is the largest organ in the body that protects the organism from environmental, chemical and physical traumas of each passing day. The protective skin epidermal permeability barrier (EPB) is formed within the exterior layers of the epidermis, which are regularly sloughed off and repopulated by movement of inner cells. The epidermal permeability barrier is established during in utero development and maintained through lifetime. Impaired epidermal barrier formation is one of the major features of several dermatoses such as psoriasis and atopic dermatitis. Chicken ovalbumin upstream promote

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Bai, Yunpeng. "Understanding the biological function of phosphatases of regenerating liver, from biochemistry to physiology." Thesis, 2014. http://hdl.handle.net/1805/5675.

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Indiana University-Purdue University Indianapolis (IUPUI)<br>Phosphatases of regenerating liver, consisting of PRL-1, PRL-2 and PRL-3, belong to a novel protein tyrosine phosphatases subfamily, whose overexpression promotes cell proliferation, migration and invasion and contributes to tumorigenesis and metastasis. However, although great efforts have been made to uncover the biological function of PRLs, limited knowledge is available on the underlying mechanism of PRLs’ actions, therapeutic value by targeting PRLs, as well as the physiological function of PRLs in vivo. To answer these questi

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Conway, Betsy Ann. "The effects of laforin, malin, Stbd1, and Ptg deficiencies on heart glycogen levels in Pompe disease mouse models." Thesis, 2015. http://hdl.handle.net/1805/7979.

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Indiana University-Purdue University Indianapolis (IUPUI)<br>Pompe disease (PD) is a rare metabolic myopathy characterized by loss of acid alpha-glucosidase (GAA), the enzyme responsible for breaking down glycogen to glucose within the lysosomes. PD cells accumulate massive quantities of glycogen within their lysosomes, and as such, PD is classified as a “lysosomal storage disease” (LSD). GAA-deficient cells also exhibit accumulation of autophagic debris. Symptoms of severe infantile PD include extreme muscle weakness, hypotonia, and hypertrophic cardiomyopathy, resulting in death before one y

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Himes, Evan Robert. "The role of STAT3 in osteoclast mediated bone resorption." Thesis, 2014. http://hdl.handle.net/1805/4841.

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Indiana University-Purdue University Indianapolis (IUPUI)<br>Signal Transducer and Activator of Transcription 3 (STAT3) is known to be related to bone metabolism. Mutation of STAT3 causes a rare disorder in which serum levels of IgE are elevated. This causes various skeletal problems similar to osteoporosis. To examine the effect of STAT3 in the osteoclast, we obtained two osteoclast specific STAT3 knockout mouse models: one using the CTSK promoter to drive Cre recombinase and another using a TRAP promoter. Examination of these mice at 8 weeks of age revealed a decreased trabecular bone vo

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