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Dissertations / Theses on the topic 'Dd4 gene'

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Published: 5 June 2025

Last updated: 15 July 2025

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1

De, Sousa Barbosa Vítor José. "Centrosomal functions revealed through mutations in Drosophila melanogaster l(1)discs degenerate-4 (dd4), a gene encoding for the 91kD component of the γTuRC". Thesis, University of Cambridge, 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.620295.

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2

Silva, Thatiana Evilen da. "Pesquisa de mutações no gene DMRT1 em pacientes portadores de distúrbios do desenvolvimento sexual (DDS) 46,XY por anormalidades gonadais." Universidade de São Paulo, 2012. http://www.teses.usp.br/teses/disponiveis/5/5135/tde-10102012-102725/.

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Introdução: O gene DMRT1 é um fator muito importante, o qual induz a determinação sexual masculina. Estudos mais recentes têm demonstrado que o Dmrt1 possui um papel significante no desenvolvimento ovariano. Deleções restritas ao gene DMRT1 têm sido raramente identificadas em pacientes com disgenesia gonadal (DG) sem outras características sindrômicas. Objetivo: Pesquisar a presença de haploinsuficiência do gene DMRT1 (deleções e/ou mutações inativadoras) em um grupo grande de pacientes não sindrômicos com distúrbios do desenvolvimento sexual (DDS) por anormalidades gonadais. Polimorfismos do

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3

Alldinger, Ingo, Dag Dittert, Matthias Peiper, et al. "Gene expression analysis of pancreatic cell lines reveals genes overexpressed in pancreatic cancer." Karger, 2005. https://tud.qucosa.de/id/qucosa%3A27709.

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Background: Pancreatic cancer is one of the leading causes of cancer-related death. Using DNA gene expression analysis based on a custom made Affymetrix cancer array, we investigated the expression pattern of both primary and established pancreatic carcinoma cell lines. Methods: We analyzed the gene expression of 5 established pancreatic cancer cell lines (AsPC-1, BxPC-3, Capan-1, Capan-2 and HPAF II) and 5 primary isolates, 1 of them derived from benign pancreatic duct cells. Results: Out of 1,540 genes which were expressed in at least 3 experiments, we found 122 genes upregulated and 18 down

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4

Bersted, Kyle. "Exploring Interactions Between DRD4 Genotype and Perceived Parenting Environment." OpenSIUC, 2016. https://opensiuc.lib.siu.edu/dissertations/1259.

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This study examined possible interactions between DRD4 genotype and parenting on children’s externalizing, internalizing, and prosocial behaviors, and explored both parent and child perceptions of all variables. Both diathesis-stress and differential susceptibility hypotheses were assessed for examining possible interactions for children with the DRD4 7-repeat allele. Data were collected from 58 families within the Southern Illinois Twins/Triplets and Siblings Study (SITSS). Results indicated that although no gene-environment interactions were found when examining child perceptions, a signi

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Alldinger, Ingo, Dag Dittert, Matthias Peiper, et al. "Gene expression analysis of pancreatic cell lines reveals genes overexpressed in pancreatic cancer." Saechsische Landesbibliothek- Staats- und Universitaetsbibliothek Dresden, 2014. http://nbn-resolving.de/urn:nbn:de:bsz:14-qucosa-136495.

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Background: Pancreatic cancer is one of the leading causes of cancer-related death. Using DNA gene expression analysis based on a custom made Affymetrix cancer array, we investigated the expression pattern of both primary and established pancreatic carcinoma cell lines. Methods: We analyzed the gene expression of 5 established pancreatic cancer cell lines (AsPC-1, BxPC-3, Capan-1, Capan-2 and HPAF II) and 5 primary isolates, 1 of them derived from benign pancreatic duct cells. Results: Out of 1,540 genes which were expressed in at least 3 experiments, we found 122 genes upregulated and 18 down

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6

Sigmarsson, Haukur Lindberg. "PATHOGENITÄTSVERGLEICH VON SALMONELLA TYPHIMURIUM DT104 - WILDTYP UND SALMONELLA TYPHIMURIUM - DELETIONSMUTANTEN (sseD::aphT & invC::aphT) IN PERSISTENT INFIZIERTEN SCHWEINEN." Doctoral thesis, Universitätsbibliothek Leipzig, 2012. http://nbn-resolving.de/urn:nbn:de:bsz:15-qucosa-98570.

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ZUSAMMENFASSUNG Haukur Lindberg Sigmarsson PATHOGENITÄTSVERGLEICH VON SALMONELLA TYPHIMURIUM DT104 - WILDTYP UND SALMONELLA TYPHIMURIUM - DELETIONSMUTANTEN (sseD::aphT & invC::aphT) IN PERSISTENT INFIZIERTEN SCHWEINEN Salmonella (S.) Typhimurium DT104 ist ein gram-negatives Bakterium. Es weist keine Wirtsspezifität auf und gilt als Zoonoseerreger. Jährlich erkranken daran allein in Deutschland mehrere Tausend Menschen unter dem Bild einer schwerwiegenden Diarrhö mit zum Teil tödlichem Ausgang. Das Schwein gilt als eines der Reservoire für S. Typhimurium DT104 des Menschen. S. Typhimurium D

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7

Müller, Gerd A., Axel Wintsche, Konstanze Stangner, Sonja J. Prohaska, Peter F. Stadler, and Kurt Engeland. "The CHR site." Universitätsbibliothek Leipzig, 2014. http://nbn-resolving.de/urn:nbn:de:bsz:15-qucosa-150704.

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The cell cycle genes homology region (CHR) has been identified as a DNA element with an important role in transcriptional regulation of late cell cycle genes. It has been shown that such genes are controlled by DREAM, MMB and FOXM1-MuvB and that these protein complexes can contact DNA via CHR sites. However, it has not been elucidated which sequence variations of the canonical CHR are functional and how frequent CHR-based regulation is utilized in mammalian genomes. Here, we define the spectrum of functional CHR elements. As the basis for a computational meta-analysis, we identify new CHR sequ

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8

Martins, Gláucia Chiyoko Akutagava. "Estudo da influência de polimorfismos do gene do receptor D4 de dopamina (DRD4) sobre a etiologia e manifestações clínicas do Transtorno de Déficit de Atenção e Hiperatividade (TDAH)." reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2010. http://hdl.handle.net/10183/88130.

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O Transtorno de Déficit de Atenção e Hiperatividade (TDAH) é um dos transtornos psiquiátricos mais comuns da infância e adolescência, caracterizado por sintomas de desatenção, hiperatividade e impulsividade. É uma doença bastante complexa, com uma herdabilidade estimada de 76%. A maioria dos estudos moleculares com o TDAH teve como alvo genes codificadores de componentes do sistema dopaminérgico. Entre esses, o gene do receptor D4 de dopamina (DRD4) é o loco mais investigado, sendo considerado um gene de suscetibilidade ao TDAH. Entretanto, ainda existem resultados conflitantes. O objetivo do

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9

Knigge, Anja, Nora Klöting, Michael R. Schön, et al. "ADCY5 gene expression in adipose tissue is related to obesity in men and mice." Universitätsbibliothek Leipzig, 2015. http://nbn-resolving.de/urn:nbn:de:bsz:15-qucosa-169954.

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Genome wide association studies revealed an association of the single nucleotide polymorphism rs11708067 within the ADCY5 gene—encoding adenylate cyclase 5—with increased type 2 diabetes (T2D) risk and higher fasting glucose. However, it remains unclear whether the association between ADCY5 variants and glycemic traits may involve adipose tissue (AT) related mechanisms. We therefore tested the hypothesis that ADCY5 mRNA expression in human and mouse AT is related to obesity, fat distribution, T2D in humans and high fat diet (HFD) in mice. We measured ADCY5 mRNA expression in paired samples of

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10

Strobel, Alexander, Frank M. Spinath, Alois Angleitner, Rainer Riemann, and Klaus-Peter Lesch. "Lack of Association between Polymorphisms of the Dopamine D4 Receptor Gene and Personality." Karger, 2003. https://tud.qucosa.de/id/qucosa%3A27586.

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Recent studies have suggested a role of two polymorphisms of the dopamine D4 receptor gene (DRD4 exon III and –521C/T) in the modulation of personality traits such as ‘novelty seeking’ or ‘extraversion’, which are supposed to be modulated by individual differences in dopaminergic function. However, several replication studies have not provided positive findings. The present study was performed to further investigate whether DRD4 exon III and –521C/T are associated with individual differences in personality. One hundred and fifteen healthy German volunteers completed the NEO-Five-Factor Invento

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11

Krieg, Michael, Alba Diz-Muñoz, Martin Bergert, et al. "Control of Directed Cell Migration In Vivo by Membrane-to-Cortex Attachment." Saechsische Landesbibliothek- Staats- und Universitaetsbibliothek Dresden, 2015. http://nbn-resolving.de/urn:nbn:de:bsz:14-qucosa-180853.

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Cell shape and motility are primarily controlled by cellular mechanics. The attachment of the plasma membrane to the underlying actomyosin cortex has been proposed to be important for cellular processes involving membrane deformation. However, little is known about the actual function of membrane-to-cortex attachment (MCA) in cell protrusion formation and migration, in particular in the context of the developing embryo. Here, we use a multidisciplinary approach to study MCA in zebrafish mesoderm and endoderm (mesendoderm) germ layer progenitor cells, which migrate using a combination of differ

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12

Simsek, Senem. "DEVELOPMENT OF TRAPPING STYLE CASSETTES FOR NEW GENE TARGETING STRATEGIES." Doctoral thesis, Saechsische Landesbibliothek- Staats- und Universitaetsbibliothek Dresden, 2007. http://nbn-resolving.de/urn:nbn:de:swb:14-1193679015297-95667.

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Because of shared physiological, anatomical and metabolical features with humans, mice have served for a long time as mammalian disease models. In particular, these last ten years have been the golden age for this favoured model animal. Human and mouse genome projects show that there is 95% genome homology. Spurred by this fact, research attention has shifted from reading these sequences to deciphering the functions of these genes. The 1980s saw the remarkable achievement of homologous recombination in mammalian cell culture systems. Later in the 1990s, innovative gene trapping strategies were

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13

Bandapalli, Obul Reddy. "Analysis of global gene expression profiles and invasion related genes of colorectal liver metastasis." Doctoral thesis, Humboldt-Universität zu Berlin, Mathematisch-Naturwissenschaftliche Fakultät I, 2007. http://dx.doi.org/10.18452/15710.

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Die Leber ist das am häufigsten von Metastasen betroffene Organ und kann daher als Modellorgan für metastatische Invasion dienen. Aus diesem Grund war es das Ziel dieser Dissertation Genexpressionsprofile zu verstehen und metastasierungs- sowie invasionsassoziierte Gene zu identifizieren. Differentielle Genexpression wurde in drei Systemen überprüft: Einem syngenen Mausmodell, einem Xenograftmodell sowie in fünf Gewebeproben von Patienten. Genexpressionprofile des syngenen Mausmodells und der Patientenproben zeigten, dass man die Invasionsfront als Ganzes betrachten, um möglichst viele über

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14

Thomson, Cynthia J. "The genetics of sports behaviour : the role of the DRD4 gene in sensation seeking in skiers." Thesis, University of British Columbia, 2008. http://hdl.handle.net/2429/1554.

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Previous research has shown a large genetic influence over personality traits, especially sensation seeking. One gene thought to influence this behavioural trait is the dopamine-4-receptor gene (DRD4), in which variants have been associated with sensation seeking and novelty seeking in some, but not all studies. The inconsistencies between studies may be due to heterogeneity in both the behaviours and the populations being assessed. Some studies included only males and few studies have a priori analyzed males and females separately. SS has been associated with high-risk sports, including s

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15

Strobel, Alexander, Frank M. Spinath, Alois Angleitner, Rainer Riemann, and Klaus-Peter Lesch. "Lack of Association between Polymorphisms of the Dopamine D4 Receptor Gene and Personality." Saechsische Landesbibliothek- Staats- und Universitaetsbibliothek Dresden, 2014. http://nbn-resolving.de/urn:nbn:de:bsz:14-qucosa-134660.

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Recent studies have suggested a role of two polymorphisms of the dopamine D4 receptor gene (DRD4 exon III and –521C/T) in the modulation of personality traits such as ‘novelty seeking’ or ‘extraversion’, which are supposed to be modulated by individual differences in dopaminergic function. However, several replication studies have not provided positive findings. The present study was performed to further investigate whether DRD4 exon III and –521C/T are associated with individual differences in personality. One hundred and fifteen healthy German volunteers completed the NEO-Five-Factor Invento

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16

Jin, Hong. "Molecular investigations of disease genes in Xq22.1 region of the human X chromosome." Thesis, King's College London (University of London), 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.298772.

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17

FRoehlich, Tanya. "ADHD-related Executive Functions: Interactions of a DRD4 Polymorphism, Lead, and Sex." University of Cincinnati / OhioLINK, 2007. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1185465160.

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18

Higashi, Daniela. "Identificação de genes de isolados clínicos de Porphyromonas gingivalis expressos diferencialmente na formação de biofilme, usando differential display PCR." Universidade de São Paulo, 2009. http://www.teses.usp.br/teses/disponiveis/42/42132/tde-06042009-164847/.

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Porphyromonas gingivalis é um bacilo anaeróbio Gram negativo envolvido com o início e progressão de doenças periodontais. É considerado um colonizador tardio ou secundário do biofilme oral capaz de aderir a células de Streptococcus gordonii, um colonizador inicial do biofilme dental. Este estudo se propôs a comparar a expressão de genes de amostras de P. gingivalis isoladas de diferentes condições periodontais usando Differential Display (DD) Reverse Transcription PCR, durante a formação de biofilme misto com S. gordonii. O perfil de expressão gênica de células em biofilme (saúde e periodontit

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19

Baumont, Angélica Cerveira de. "O transtorno de déficit de atenção e hiperatividade (TDAH) : estudo funcional e de associação com o gene DRD4." reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2011. http://hdl.handle.net/10183/139180.

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O transtorno de déficit de atenção e hiperatividade (TDAH) é um dos transtornos psiquiátricos mais freqüentes da infância e adolescência, sendo caracterizado por sintomas de desatenção, hiperatividade e impulsividade. A contribuição genética na etiologia do TDAH é uma das mais altas já verificadas para transtornos psiquiátricos, com herdabilidade média estimada de 76%. Dentre os fatores genéticos que contribuiriam para o desenvolvimento da doença, genes que codificam componentes do sistema dopaminérgico estão entre os principais candidatos. Entre estes, o gene que codifica o receptor D4 de dop

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20

Norris, Richard. "An exploration of cross-genre composition focusing on the combination of natural and synthetic sound sources." Thesis, Royal Holloway, University of London, 2012. http://repository.royalholloway.ac.uk/items/2837960b-20e0-9ec8-dd40-ec05067f86de/11/.

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This portfolio explores a combination of acoustic performance with technology in various guises, including the use of backing tracks alongside an ensemble, the manipulation of live instruments with effects and the use of synthesizers and samplers along with an instrumental ensemble. A key feature that runs through the portfolio is the use of specific non-musical subject themes as inspiration for the music. These include the murders of five prostitutes in Ipswich in 2006 by Steve Wright, a speech by David Davis on people trafficking from 2005, the Mumbai hostage situation and bombings of 2007,

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Tanaka, Elly M., Dirk Lindemann, Tatiana Sandoval-Guzmán, Nicole Stanke, and Stephanie Protze. "Foamy virus for efficient gene transfer in regeneration studies." BioMed Central, 2013. https://tud.qucosa.de/id/qucosa%3A28877.

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Background Molecular studies of appendage regeneration have been hindered by the lack of a stable and efficient means of transferring exogenous genes. We therefore sought an efficient integrating virus system that could be used to study limb and tail regeneration in salamanders. Results We show that replication-deficient foamy virus (FV) vectors efficiently transduce cells in two different regeneration models in cell culture and in vivo. Injection of EGFP-expressing FV but not lentivirus vector particles into regenerating limbs and tail resulted in widespread expression that persisted through

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22

Kim, Jeehee. "Biological role and genetic redundancy within the ebf gene family." Diss., Ludwig-Maximilians-Universität München, 2015. http://nbn-resolving.de/urn:nbn:de:bvb:19-182813.

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23

Sakuntabhai, Anavaj. "Positional cloning of Darier's disease gene." Thesis, University of Oxford, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.302392.

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24

Stöve, Johannes, Christina Gerlach, Klaus Huch, et al. "Gene Expression of Stromelysin and Aggrecan in Osteoarthritic Cartilage." Karger, 2001. https://tud.qucosa.de/id/qucosa%3A27631.

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Objective: To analyze cartilage gene expression of patients with osteoarthritis (OA) in correlation with radiographic and histological findings. Materials and Methods: Twenty-one patients with OA of the knee admitted for total knee replacement were analyzed clinically and radiographically by the Kellgren and Lawrence system. During surgery, cartilage samples from the medial and lateral condyles and tibial plateaus were harvested separately. Specimens were analyzed histologically (Mankin score) and total RNA was extracted directly from cartilage tissue. Steady state levels of stromelysin (MMP-3

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25

Murakaeva, Asiya. "Structure, evolution and expression of the duplicated growth hormone genes of common carp (Cyprinus carpio)." Doctoral thesis, Humboldt-Universität zu Berlin, Mathematisch-Naturwissenschaftliche Fakultät I, 2009. http://dx.doi.org/10.18452/15982.

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Der Karpfen, Cyprinus carpio, ist eine tetraploide Fischart aus der Familie Cyprinidae, die vor 20-50 Mio Jahren entstanden ist. Das Ziel der vorliegenden Arbeit war der Versuch, die funktionelle Rolle der duplizierten GH Gene des Karpfens durch das Studium ihrer Struktur, Evolution und Expression zu verstehen. Die Introns des zweiten GH Gens des Karpfens wurden erstmalig sequenziert und Sequenzvergleiche der kodierenden und nicht-kodierenden Bereiche von Allelen beider GH Gene wurden vorgenommen. Eine phylogenetische Analyse wurde durchgefuhrt, um die Beziehungen der GH Gene des Karpfens zu d

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Fischer, Martin, Patrick Grossmann, Megha Padi, and James A. DeCaprio. "Integration of TP53, DREAM, MMB-FOXM1 and RB-E2F target gene analyses identifies cell cycle gene regulatory networks." Universitätsbibliothek Leipzig, 2016. http://nbn-resolving.de/urn:nbn:de:bsz:15-qucosa-205936.

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Cell cycle (CC) and TP53 regulatory networks are frequently deregulated in cancer. While numerous genome-wide studies of TP53 and CC-regulated genes have been performed, significant variation between studies has made it difficult to assess regulation of any given gene of interest. To overcome the limitation of individual studies, we developed a meta-analysis approach to identify high confidence target genes that reflect their frequency of identification in independent datasets. Gene regulatory networks were generated by comparing differential expression of TP53 and CC-regulated genes with chro

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May, Jürgen. "Einfluß von Genen der MHC-Klasse II und anderer polymorpher Gene auf Epidemiologie und klinische Manifestationen der Plasmodieninfektion." Doctoral thesis, Humboldt-Universität zu Berlin, Medizinische Fakultät - Universitätsklinikum Charité, 2001. http://dx.doi.org/10.18452/13774.

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Die Infektion mit dem Erreger der Malaria tropica, Plasmodium falciparum, verläuft individuell unterschiedlich. Während manche der Infizierten rasch an einer komplizierten Malaria versterben, zeigen andere keinerlei Symptomatik, obwohl jahrelang eine Parasitämie besteht. Was diese Individuen voneinanderen unterscheidet, ist weitgehend unbekannt. Morbidität und Mortalität der Erkrankung sind von der Auseinandersetzung zwischen Wirt und Parasit abhängig, die von exogenen und endogenen Faktoren beeinflußt wird. Unter den endogenen Faktoren spielen die genetischen Determinanten, die sowohl an ange

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Preuten, Tobias. "Organellar gene expression." Doctoral thesis, Humboldt-Universität zu Berlin, Mathematisch-Naturwissenschaftliche Fakultät I, 2010. http://dx.doi.org/10.18452/16142.

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Zusätzlich zu der eubakteriellen RNA-Polymerase (RNAP) der Plastiden sind im Zellkern von Arabidopsis thaliana drei weitere, phagentypische RNAP kodiert, die jeweils aus nur einer Einheit aufgebaut sind. Die Enzyme RpoTp und RpoTm werden in die Plastiden, bzw. die Mitochondrien transportiert, während RpoTmp in beiden Organellen zu finden ist. Um die Lichtabhängigkeit der RpoT-Gene zu untersuchen, wurde die lichtinduzierte Akkumulation ihrer Transkripte in 7-Tage alten Keimlingen, sowie 3- bzw. 9-Wochen alten Rosettenblättern mittels quantitativer real-time PCR ermittelt. Die entwicklungsabhäng

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Bernt, Matthias. "Gene order rearrangement methods for the reconstruction of phylogeny." Doctoral thesis, Universitätsbibliothek Leipzig, 2010. http://nbn-resolving.de/urn:nbn:de:bsz:15-qucosa-38666.

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The study of phylogeny, i.e. the evolutionary history of species, is a central problem in biology and a key for understanding characteristics of contemporary species. Many problems in this area can be formulated as combinatorial optimisation problems which makes it particularly interesting for computer scientists. The reconstruction of the phylogeny of species can be based on various kinds of data, e.g. morphological properties or characteristics of the genetic information of the species. Maximum parsimony is a popular and widely used method for phylogenetic reconstruction aiming for an explan

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Schröder, Michael, Rainer Winnenburg, and Conrad Plake. "Improved mutation tagging with gene identifiers applied to membrane protein stability prediction." BioMed Central, 2009. https://tud.qucosa.de/id/qucosa%3A28888.

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Background The automated retrieval and integration of information about protein point mutations in combination with structure, domain and interaction data from literature and databases promises to be a valuable approach to study structure-function relationships in biomedical data sets. Results We developed a rule- and regular expression-based protein point mutation retrieval pipeline for PubMed abstracts, which shows an F-measure of 87% for the mutation retrieval task on a benchmark dataset. In order to link mutations to their proteins, we utilize a named entity recognition algorithm for the

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Xiang, Lianbin, Katalin Szebeni, Attila Szebeni, et al. "Dopamine Receptor Gene Expression in Human Amygdaloid Nuclei: Elevated D4 Receptor mRNA in Major Depression." Digital Commons @ East Tennessee State University, 2008. https://dc.etsu.edu/etsu-works/8608.

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Previous findings from this laboratory demonstrating changes in dopamine (DA) transporter and D2 receptors in the amygdaloid complex of subjects with major depression indicate that disruption of dopamine neurotransmission to the amygdala may contribute to behavioral symptoms associated with depression. Quantitative real-time RT-PCR was used to investigate the regional distribution of gene expression of DA receptors in the human amygdala. In addition, relative levels of mRNA of DA receptors in the basal amygdaloid nucleus were measured postmortem in subjects with major depression and normal con

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Schröder, Michael, Rainer Winnenburg, and Conrad Plake. "Improved mutation tagging with gene identifiers applied to membrane protein stability prediction." Saechsische Landesbibliothek- Staats- und Universitaetsbibliothek Dresden, 2015. http://nbn-resolving.de/urn:nbn:de:bsz:14-qucosa-177379.

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Background The automated retrieval and integration of information about protein point mutations in combination with structure, domain and interaction data from literature and databases promises to be a valuable approach to study structure-function relationships in biomedical data sets. Results We developed a rule- and regular expression-based protein point mutation retrieval pipeline for PubMed abstracts, which shows an F-measure of 87% for the mutation retrieval task on a benchmark dataset. In order to link mutations to their proteins, we utilize a named entity recognition algorithm for the

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Camilleri, Raymond Stephen. "Molecular genetic and biochemical studies of the D1-processing protease of Arabidopsis Thaliana." Thesis, Royal Holloway, University of London, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.322223.

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Perera, Arshan. "Epigenetic gene regulation by TET3 and 5-hydroxymethylcytosine during retinal maturation." Diss., Ludwig-Maximilians-Universität München, 2015. http://nbn-resolving.de/urn:nbn:de:bvb:19-183651.

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The 2-oxoglutarate and Fe (II)-dependent ten-eleven translocation (TET) enzymes can oxidize 5-methylcytosine (5mC) to 5-hydroxymethylcytosine (5hmC), 5-formylcytosine (5fC) and 5-carboxycytosine (5caC). Thus, it was hypothesized that this could be a pathway for active DNA demethylation. However, several studies have shown that 5hmC levels accumulate especially in neurons suggesting a role as an epigenetic mark. Nevertheless, the mechanism controlling TET activity and the role of 5hmC are poorly understood. In particular, it is not known how the neuronal TET3 isoform lacking a DNA binding domai

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Marques, Francine Zanchetta Coelho. "Polimorfismos nos genes DAT1 DRD4 e transtorno de déficits de atenção e hiperatividade (TDAH) em adultos." reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2006. http://hdl.handle.net/10183/7072.

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O transtorno de déficit de atenção e hiperatividade (TDAH) é um dos problemas psiquiátricos mais comuns na infância, o qual apresenta uma herdabilidade significativa e se caracteriza pela presença de desatenção, hiperatividade e impulsividade. Cerca da metade das crianças com TDAH permanecem com o transtorno durante a vida adulta. Embora os estudos em amostras de crianças tenham explorado diversos genes de suscetibilidade ao TDAH, os resultados são inconclusivos e há poucos estudos em adultos. A amostra aqui estudada é composta por 308 adultos portadores de TDAH e 233 doadores de sangue do Hem

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Dörr, Katrin Zaragoza. "Molecular mechanisms of gene activation and gene expression mediated by CCAAT/enhancer binding proteins." Doctoral thesis, Humboldt-Universität zu Berlin, Mathematisch-Naturwissenschaftliche Fakultät I, 2008. http://dx.doi.org/10.18452/15873.

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Der Transkriptionsfaktor CCAAT/Enhancer-Binding Protein alpha (C/EBPa) koordiniert Proliferationshemmung und Differenzierung von myeloiden VorlŠuferzellen und Adipozyten. C/EBPa ist ein transkriptioneller Aktivator von abstammungspezifischen Genen und blockiert den Zellzyklus durch Repression von proliferationsfšrdernden E2F Zielgenen. Die hier gezeigten Daten zeigen, dass auch umgekehrt E2F die transkriptionelle und differenzierungsfšrdernde AktivitŠt von C/EBPa entgegenwirkt. Somit besitzen E2F-C/EBPa eine zentrale Schalterfunktion zwischen Proliferation und Differenzierung. Der Repressionsm

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Tanaka, Elly M., Dirk Lindemann, Tatiana Sandoval-Guzmán, Nicole Stanke, and Stephanie Protze. "Foamy virus for efficient gene transfer in regeneration studies." Saechsische Landesbibliothek- Staats- und Universitaetsbibliothek Dresden, 2015. http://nbn-resolving.de/urn:nbn:de:bsz:14-qucosa-176868.

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Background Molecular studies of appendage regeneration have been hindered by the lack of a stable and efficient means of transferring exogenous genes. We therefore sought an efficient integrating virus system that could be used to study limb and tail regeneration in salamanders. Results We show that replication-deficient foamy virus (FV) vectors efficiently transduce cells in two different regeneration models in cell culture and in vivo. Injection of EGFP-expressing FV but not lentivirus vector particles into regenerating limbs and tail resulted in widespread expression that persisted through

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Paszkowski-Rogacz, Maciej, Frank Buchholz, Mikolaj Slabicki, and Maria Teresa Pisabarro. "PhenoFam-gene set enrichment analysis through protein structural information." BioMed Central, 2010. https://tud.qucosa.de/id/qucosa%3A28875.

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Background With the current technological advances in high-throughput biology, the necessity to develop tools that help to analyse the massive amount of data being generated is evident. A powerful method of inspecting large-scale data sets is gene set enrichment analysis (GSEA) and investigation of protein structural features can guide determining the function of individual genes. However, a convenient tool that combines these two features to aid in high-throughput data analysis has not been developed yet. In order to fill this niche, we developed the user-friendly, web-based application, Phen

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Schreiber, Marlene. "Effekte von genetischen Varianten des humanen Fettsäuresynthase-Gens (FASN-Gens) auf Merkmale des Metabolischen Syndroms." Doctoral thesis, Universitätsbibliothek Leipzig, 2013. http://nbn-resolving.de/urn:nbn:de:bsz:15-qucosa-102141.

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Mit dem Beginn der Industrialisierung stieg in den westlichen Kulturen rasant die Prävalenz von Krankheitsbildern wie Adipositas, arterieller Hypertonie, Typ-2-Diabetes Mellitus und Hyperlipidämie, die als Cluster eines multifaktoriellen Krankheitsbildes namens „Metabolisches Syndrom“ (MTS) verstanden werden. Tierstudien, in denen durch die Inhibition der Fettsäuresynthase (FASN) ein rapider Abfall des Körpergewichts in Mäusen erzeilt wurden, bestätigen zunehmend genetische Prädispositionen als ursächlich für die Ausbildung des MTS. Um herauszufinden ob und in welchem Ausmaß das FASN-Gen mit h

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Stöve, Johannes, Christina Gerlach, Klaus Huch, et al. "Gene Expression of Stromelysin and Aggrecan in Osteoarthritic Cartilage." Saechsische Landesbibliothek- Staats- und Universitaetsbibliothek Dresden, 2014. http://nbn-resolving.de/urn:nbn:de:bsz:14-qucosa-135245.

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Objective: To analyze cartilage gene expression of patients with osteoarthritis (OA) in correlation with radiographic and histological findings. Materials and Methods: Twenty-one patients with OA of the knee admitted for total knee replacement were analyzed clinically and radiographically by the Kellgren and Lawrence system. During surgery, cartilage samples from the medial and lateral condyles and tibial plateaus were harvested separately. Specimens were analyzed histologically (Mankin score) and total RNA was extracted directly from cartilage tissue. Steady state levels of stromelysin (MMP-3

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Klausing, Tilo. "Robuste Genre-Klassifikation." Universitätsbibliothek Chemnitz, 2008. http://nbn-resolving.de/urn:nbn:de:bsz:ch1-200800184.

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Die automatische Klassiﬁkation von Musik in Genres wird seit einigen Jahren systematisch erforscht. In dieser Zeit wurden Genre-Klassiﬁkationssysteme und ihre Komponenten immer weiter verbessert, wofür die verschiedensten Richtungen eingeschlagen wurden. Diese Arbeit gibt deshalb im ersten Teil einen umfassenden Überblick über das Forschungsgebiet der Genre-Klassiﬁkation, von den grundlegenden Techniken bis zum aktuellen Forschungsstand. Im zweiten Teil der Arbeit wird ein neuartiger Ansatz vorgestellt, der das Ziel hat, die Genre-Klassiﬁkation gegen eventuelle Störungen robuster zu machen. Di

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Thieme, René, Susanne Kurz, Marlen Kolb, et al. "Analysis of alpha-2 macroglobulin from the long-lived and cancer-resistant naked mole-rat and human plasma." Universitätsbibliothek Leipzig, 2015. http://nbn-resolving.de/urn:nbn:de:bsz:15-qucosa-175598.

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Background: The naked mole-rat (NMR) is a long-lived and cancer resistant species. Identification of potential anti-cancer and age related mechanisms is of great interest and makes this species eminent to investigate anti-cancer strategies and understand aging mechanisms. Since it is known that the NMR expresses higher liver mRNA-levels of alpha 2-macroglobulin than mice, nothing is known about its structure, functionality or expression level in the NMR compared to the human A2M. Results: Here we show a comprehensive analysis of NMR- and human plasma-A2M, showing a different prediction in gly

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Phan, Minh Thi Tuyet, Viet Quoc Nguyen, Hy Gia Le, Thoa Kim Nguyen та Man Dinh Tran. "Molecular cloning gene and nucleotide sequence of the gene encoding an endo-1,4-β-glucanase from Bacillus sp VLSH08 strain applying to biomass hydrolysis". Saechsische Landesbibliothek- Staats- und Universitaetsbibliothek Dresden, 2013. http://nbn-resolving.de/urn:nbn:de:bsz:14-qucosa-99522.

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Bacillus sp VLSH08 screened from sea wetland in Nam Dinh province produces an extracellular endo-1,4-beta-glucanase. According to the results of the classified Kit API 50/CHB as well as sequence of 1500 bp fragment coding for 16S rRNA gene of the Bacillus sp VLSH 08 strain showed that the taxonomical characteristics between the strain VLSH 08 and Bacillus amyloliquefaciene JN999857 are similar of 98%. Culture supernatant of this strain showed optimal cellulase activity at pH 5.8 and 60 Celsius degree and that was enhanced 2.03 times in the presence of 5 mM Co2+. Moreover, the gene encoding end

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König, Nadja. "Identifizierung und Charakterisierung neuer Typ-1-Interferonopathie-assoziierter Gene." Doctoral thesis, Saechsische Landesbibliothek- Staats- und Universitaetsbibliothek Dresden, 2017. http://nbn-resolving.de/urn:nbn:de:bsz:14-qucosa-225727.

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HINTERGRUND: Eine inadäquate Aktivierung von Typ-1-IFN kann in der Entstehung von Autoimmunität und Autoinflammation resultieren. Die einer solchen dysregulierten Typ-1-IFN-Achse zu Grunde liegenden Störungen werden primär über das angeborene Immunsystem vermittelt. Krankheitsbilder, die durch eine chronische Typ-1-IFN-Aktivierung bedingt sind, werden daher unter dem Begriff Typ-1-Interferonopathien zusammengefasst. Diese Gruppe seltener, genetisch bedingter Erkrankungen zeichnet sich durch eine große symptomatische Bandbreite aus, wobei vor allem neurologische und kutane Manifestationen im Vo

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Busse, Kathy, Rainer Strotmann, Karl Strecker, et al. "Adaptive gene regulation in the striatum of RGS9-deficient mice." Universitätsbibliothek Leipzig, 2014. http://nbn-resolving.de/urn:nbn:de:bsz:15-qucosa-144141.

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Background: RGS9-deficient mice show drug-induced dyskinesia but normal locomotor activity under unchallenged conditions. Results: Genes related to Ca2+ signaling and their functions were regulated in RGS9-deficient mice. Conclusion: Changes in Ca2+ signaling that compensate for RGS9 loss-of-function can explain the normal locomotor activity in RGS9-deficient mice under unchallenged conditions. Significance: Identified signaling components may represent novel targets in antidyskinetic therapy. The long splice variant of the regulator of G-protein signaling 9 (RGS9-2) is enriched in striatal me

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Hache, Hendrik. "Computational analysis of gene regulatory networks." Doctoral thesis, Humboldt-Universität zu Berlin, Mathematisch-Naturwissenschaftliche Fakultät I, 2009. http://dx.doi.org/10.18452/16043.

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Genregulation bezeichnet die geregelte Steuerung der Genexpression durch das Zusammenspiel einer Vielzahl von Transkriptionsfaktoren die in ihrer Gesamtheit hoch komplexe und zell-spezifische genregulatorische Netzwerke bilden. Im Rahmen meiner Arbeit beschäftigte ich mich mit zwei Ansätzen der computergestützten Analyse solcher Netzwerke, Modellierung und Reverse Engineering. Der erste Teil meiner Arbeit beschreibt die Entwicklung der Web-Anwendung GEne Network GEnerator (GeNGe). Hierbei handelt es sich um ein System für die automatische Erzeugung von genregulatorischen Netzwerken. Hierfür en

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Trescher, Saskia. "Estimating Gene Regulatory Activity using Mathematical Optimization." Doctoral thesis, Humboldt-Universität zu Berlin, 2020. http://dx.doi.org/10.18452/21900.

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Die Regulation der Genexpression ist einer der wichtigsten zellulären Prozesse und steht in Zusammenhang mit der Entstehung diverser Krankheiten. Regulationsmechanismen können mit einer Vielzahl von Methoden experimentell untersucht werden, zugleich erfordert die Integration der Datensätze in umfassende Modelle stringente rechnergestützte Methoden. Ein Teil dieser Methoden modelliert die genomweite Genexpression als (lineares) Gleichungssystem über die Aktivität und Beziehungen von Transkriptionsfaktoren (TF), Genen und anderen Faktoren und optimiert die Parameter, sodass die gemessenen Expres

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Hempel, Sabrina. "Deciphering gene regulation from time series data." Doctoral thesis, Humboldt-Universität zu Berlin, Mathematisch-Naturwissenschaftliche Fakultät I, 2012. http://dx.doi.org/10.18452/16602.

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Meine Arbeit beschäftigt sich mit der Rekonstruktion genregulatorischer Netze, um die Funktionalität von Organismen und ihre Reaktionen auf die vielfältigen externen Einflussfaktoren besser zu verstehen. Die Analyse kurzer, zeitaufgelöster Daten mit Hilfe von Assoziationsmaßen kann dabei erste wesentliche Einblicke in mögliche Wechselwirkungskreisläufe liefern. In einer umfangreicher Vergleichstudie untersuche ich die Effizienz der Netzwerkrekonstruktion bei der Anwendung verschiedener Maße und Bewertungsschemata. Weiterhin führe ich IOTA (inner composition alignment) als ein neues asymmetrisc

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Liebermeister, Wolfram. "Analysis of optimal differential gene expression." Doctoral thesis, [S.l. : s.n.], 2004. http://deposit.ddb.de/cgi-bin/dokserv?idn=97257347X.

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Dörfel, Denise. "Functional Investigations into the Recognition Memory Network, its Association with Genetic Polymorphisms and Implications for Disorders of Emotional Memory." Doctoral thesis, Saechsische Landesbibliothek- Staats- und Universitaetsbibliothek Dresden, 2010. http://nbn-resolving.de/urn:nbn:de:bsz:14-qucosa-39423.

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Recent research, that has been focused on recognition memory, has revealed that two processes contribute to recognition of previously encountered items: recollection and familiarity (Aggleton & Brown, 1999; Eichenbaum, 2006; Eichenbaum, Yonelinas, & Ranganath, 2007; Rugg & Yonelinas, 2003; Skinner & Fernandes, 2007; Squire, Stark, & Clark, 2004; Wixted, 2007a; Yonelinas, 2001a; Yonelinas, 2002). The findings of neural correlates of recollection and familiarity lead to the assumption that there are different brain regions activated in either process, but there are, to the best of my knowledge,

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