Дисертації з теми "Parental genome"
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Ajjan, Sophie. "Formes atypiques d'empreinte génomique : transitoire, tissu-spécifique et lignée-spécifique." Thesis, Paris 6, 2015. http://www.theses.fr/2015PA066251/document.
Повний текст джерелаGenomic imprinting refers to the functional non-equivalence of the two parental genomes in mammals. Imprinted genes are expressed only from the paternal or maternal allele: this mono-allelic expression is regulated by parent-inherited DNA methylation of specific cis-regulatory regions called ICRs (Imprinting Control Regions). There are currently around 120 imprinted genes known in the mouse genome, which are under the control of 20 characterized ICRs, and are generally conserved in Human. My thesis project aimed at characterizing new maternal ICRs and at analyzing their impact on gene regulation, based on a genome-wide methylation screen conducted in the mouse. I participated to revealing the existence of three forms of genomic imprinting, which reflects variable susceptibility to developmentally-regulated DNA methylation changes: 1) ubiquitous and life-long imprinting, which refers to the 20 canonical ICRs, 2) transient, whose existence is limited to preimplantation development, and 3) tissue-specific. More specifically, I deciphered the histone modification profiles of two new maternal ICR associated with the Cdh15 and the Gpr1/Zdbf2 loci and confirmed that the GPR1/ZDBF2 locus is also subject to transient imprinting in Human. My main achievement concerns the characterization of a candidate ICR associated with the Socs5 gene, which I found to be tissue-specific but also strain-specific, pointing towards a new form of imprinting polymorphism. This ICR has an intragenic position and has the characteristics of an enhancer, hypothesis that I am functionally testing in vivo by a CRISPR/Cas9-mediated deletion. The discovery of these new forms of genomic imprinting provides a better understanding of this phenomenon and its impact on phenotypes
Li, Karen Christine. "Supporting decision-making in whole genome/exome sequencing : parents' perspectives." Thesis, University of British Columbia, 2014. http://hdl.handle.net/2429/50835.
Повний текст джерелаApplied Science, Faculty of
Nursing, School of
Graduate
McLeod, Donald Angus. "Comparison of the RNA genomes of persistent and parental strains of human coronavirus 229E." Thesis, University of Ottawa (Canada), 1985. http://hdl.handle.net/10393/4791.
Повний текст джерелаDiedericks, Angelique. "Parental Perspectives Regarding the Return of Genomic Findings in NeuroDevelopmental Disorders – A South African Study." Master's thesis, Faculty of Health Sciences, 2020. http://hdl.handle.net/11427/32233.
Повний текст джерелаRieusset, Anne. "Caractérisation de la plasticité épigénétique du gène Necdin/NECDIN impliqué dans le syndrome de Prader-Willi et de ses conséquences fonctionnelles sur le phenotype." Thesis, Aix-Marseille, 2013. http://www.theses.fr/2013AIXM4039.
Повний текст джерелаThe Prader-Willi Syndrome (PWS) is a rare genetic disorder. Several genes, including NECDIN gene, are involved in the PWS. These genes are regulated by the genomic imprinting mechanism: only the paternal allele of these genes is expressed, their maternal allele being silenced. Our team has generated a mouse model in which the paternal allele of the Necdin gene has been deactivated (+m/-p). This model presents phenotypical similarities with PWS patients. We observed that mortality affects more -/- pups than +m/-p mice. Therefore we venture the hypothesis of a functional role of the maternal allele in mutant mice survival. We showed an expression of this allele in the nervous system of +m/-p mice. Though transcriptionnally low, that is sufficient to produce the Necdin protein and provoke cellular as well as physiological consequences that actively improve the phenotype. Importantly, a specific expression of the maternal NECDIN allele is also detected in hypothalamic brain sections of PWS patients. These results reveal an unexpected epigenetic flexibility that allow to contemplate a therapeutic pharmacological prospect
Idleburg, Michaela. "Assessment of a Video on Genome Testing Expectations and Results: Parent and Adolescent Views and Understanding." University of Cincinnati / OhioLINK, 2018. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1525171341700198.
Повний текст джерелаRashkin, Misha Dmitry Shepard. "Attitudes toward Whole Genome Sequencing among Parents of Children with Autism Spectrum Disorder| A Qualitative Interview Study." Thesis, Icahn School of Medicine at Mount Sinai, 2013. http://pqdtopen.proquest.com/#viewpdf?dispub=1537181.
Повний текст джерелаBackground: Whole genome sequencing (WGS) is increasingly used for research and clinical purposes. This study explored attitudes of parents of children with a suspected autism spectrum disorder (ASD) toward WGS. Methods: A topic guide informed by the Theory of Planned Behavior was developed covering perceived benefits, concerns, barriers, and facilitators regarding WGS. Participants also summarized likely major factors in their decision. Interviews were audio-recorded, transcribed and analyzed for themes using framework analysis. Results: Participants (n=10) were generally in favor of WGS. The most recurring themes were: helping their affected child; concerns that secondary findings could be emotionally overwhelming; facilitators relating to access, e.g. living near a major medical center. When summarizing, money/insurance issues were most raised; this was also the most recurring barrier. Conclusion: Parents of children with ASD were enthusiastic but also expressed concerns about WGS. These findings will be useful to future research with this and other populations.
Hore, Timothy Alexander, and timothy hore@anu edu au. "THE EVOLUTION OF GENOMIC IMPRINTING AND X CHROMOSOME INACTIVATION IN MAMMALS." The Australian National University. Research School of Biological Sciences, 2008. http://thesis.anu.edu.au./public/adt-ANU20081216.152553.
Повний текст джерелаAndersson, Sandra, and Julia Salomonsson. "Ungas perspektiv på föräldraskap och ursprung : Reflektioner från unga vuxna tillkomna genom könscellsdonation och/eller uppvuxna i regnbågsfamiljer." Thesis, Linköpings universitet, Psykologi, 2018. http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-150160.
Повний текст джерелаStatlig offentlig utredning (Kommittédirektiv 2017:28)
Raghuram, Pillai Preethi. "Decisional conflict among adolescents and parents making decisions about genomic results." University of Cincinnati / OhioLINK, 2019. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1553528736920897.
Повний текст джерелаZhou, Jiyuan. "Single-marker and haplotype analyses for detecting parent-of-origin effects using family and pedigree data." Click to view the E-thesis via HKUTO, 2009. http://sunzi.lib.hku.hk/hkuto/record/B4308543X.
Повний текст джерелаFORLANI, SYLVIE. "Utilisation de transgenes pour l'analyse de la mise en activite du genome zygotique et du processus d'impression parentale des genes chez la souris." Paris 6, 1998. http://www.theses.fr/1998PA066125.
Повний текст джерелаRagsdale, Gillian. "Genomic imprinting and human cognition : parent-of-origin effects on behaviour." Thesis, University of Cambridge, 2009. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.611803.
Повний текст джерелаArnold, Brenda Elaine. "Identification Of Candidate Genes For Self-Compatibility In A Diploid Population Of Potato Derived From Parents Used In Genome Sequencing." Thesis, Virginia Tech, 2013. http://hdl.handle.net/10919/51653.
Повний текст джерелаMaster of Science
Ladejobi, Olufunmilayo Olubukola. "Testing new genetic and genomic approaches for trait mapping and prediction in wheat (Triticum aestivum) and rice (Oryza spp)." Thesis, University of Cambridge, 2018. https://www.repository.cam.ac.uk/handle/1810/277449.
Повний текст джерелаAl, Adhami Hala. "Identification d’un réseau de gènes soumis à empreinte génomique parentale et son rôle dans le contrôle des transitions entre prolifération, quiescence et différenciation." Thesis, Montpellier 2, 2012. http://www.theses.fr/2012MON20136.
Повний текст джерелаGenomic imprinting is an epigenetic mechanism leading to the repression of one allele of a gene, depending on its parental origin. This mechanism affects a small number of genes in metatherian and eutherian mammals. These genes, named imprinted genes (IGs), display various molecular functions and thus seem unrelated. However, their alterations are frequently associated with the control of embryonic growth and tumorigenesis. My PhD project has consisted in demonstrating a functional link between IGs. We show that IGs are frequently co-expressed and belong to a common gene network. They are co-regulated in biological situations corresponding to the transitions between different cellular states. Coordinated induction of most IGs takes place at the outputs of the cell cycle. Loss and gain of function experiments of several IGs in the 3T3-L1 pre-adipocyte model demonstrate a role of the IG network in controlling transitions between cellular states (proliferation, quiescence and differentiation). In addition to IGs, this network also includes bi-allelic genes, with many extracellular matrix genes. Therefore, the function associated with the IG network could be the fine control of transitions between cellular states through a remodeling of the extracellular matrix.To conclude, in addition to the identification of a common cellular function for IGs, our results suggest a possible scenario for the targeting of these genes by parental genomic imprinting during mammalian evolution
Bowden, Lucy M. "Analysis of parent-specific gene expression in the mouse using high resolution two-dimensional electrophoresis of proteins." Thesis, University of Cambridge, 1994. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.337986.
Повний текст джерелаZhou, Jiyuan, and 周基元. "Single-marker and haplotype analyses for detecting parent-of-origin effects using family and pedigree data." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2009. http://hub.hku.hk/bib/B4308543X.
Повний текст джерелаMontibus, Bertille. "Régulation et fonction de la chromatine bivalente chez les mammifères : l'emprunte parentale comme modèle." Thesis, Clermont-Ferrand 1, 2016. http://www.theses.fr/2016CLF1MM23.
Повний текст джерелаFine-tuned regulation of gene expression is required for cell fate determination anddevelopment. Epigenetics modifications are well documented to be instrumental in thisprocess. Among them, bivalent chromatin, an unusual chromatin signature, which associatesthe permissive mark H3K4me2/3 and the repressive mark H3K27me3, is believed to arbitrategene expression during cell commitment. To study its precise role in development, we haveundertaken to study bivalency in the context of genomic imprinting. This well-defineddevelopmental frame is a process restricting expression of some genes to one parental alleleonly. The constitutive differential DNA methylation at the key region called ICR (ImprintingControl Region), is absolutely required but not sufficient to explain the complexity of themono-allelic expression pattern of imprinted genes, indicating that other mechanisms couldbe involved. Specifically, on 15 maternally methylated ICR, we showed that bivalentchromatin is acquired by default on the unmethylated allele of ICR when it istranscriptionally inactive whatever the developmental stage or the tissue studied and thuscontribute to tissue-specific expression from these regions. Altogether, our results revealthat chromatin bivalency is much less dynamic than proposed. In the context of genomicimprinting, it seems to plays more a safeguard function at ICR by protecting theunmethylated allele against DNA methylation acquisition while keeping it silent in a subsetof tissues. To complete this study, I studied the regulation of JMJD3, a histone demethylasefor H3K27me3, candidate to regulate bivalency dynamic. Our results suggest that theinduction of Jmjd3 expression observed during neural differentiation rely on the dynamic ofthe tridimensional architecture at the locus which could be regulated by the transcription ofan eRNA (enhancer RNA) and by hydroxymethylation. This model highlight a complex way ofregulation for this new epigenetics actor, involving intragenic regions and could help tounderstand how Jmjd3 expression is deregulated in a pathological context such as in cancer
RIVA, EGIDIO. "Il valore della conciliazione. L'equilibrio lavoro-vita tra scelta e necessità." Doctoral thesis, Università Cattolica del Sacro Cuore, 2007. http://hdl.handle.net/10280/177.
Повний текст джерелаWork-life integration is a complicated knot of our society, difficult to be undone. It is not a personal problem to be solved individually; rather it is a social issue and therefore needs a coherent mix of policy, legislation, organizational measures. Anyway the institutional level is not enough. Actually, as this work shows, men and women are the main characters of a slow and tough process of social and organizational change that requires the agreement of all the parties concerned. Thus it is important to make clear the different, and sometimes contrary, meanings of work-life integration among subjects acting in the labour market and to show how family, gender and labour relationships affect the definition and usage of work-life balance benefits.
Lillie, Natasha. "Experiences of Adolescents and their Parents after Receiving Genomic Screening Results for the Adolescent." University of Cincinnati / OhioLINK, 2021. http://rave.ohiolink.edu/etdc/view?acc_num=ucin162326020995405.
Повний текст джерелаHe, Feng, and 贺峰. "Detection of parent-of-origin effects and association in relation to aquantitative trait." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2010. http://hub.hku.hk/bib/B44921408.
Повний текст джерелаEvano, Brendan. "Identification et caractérisation de la fonction d’un réseau de gènes soumis à empreinte." Thesis, Montpellier 2, 2012. http://www.theses.fr/2012MON20023/document.
Повний текст джерелаMammalian genomic imprinting is an epigenetic mechanism that restrains the expression of about a hundred genes to a single allele, in a parent-of-origin specific manner. The identity of imprinted genes and the molecular basis of their monoallelic expression mostly rely on a differential epigenetic marking of the parental alleles. Presently, imprinting is understood as a mechanism aimed at controlling the amount of maternal resources allocated to the offspring. Imprinted genes belong to the same transcriptional network (IGN) and, according to different reports, they seem to control the balance between proliferation and quiescence of adult stem cells. In this study, we show that most imprinted genes are induced upon cell cycle exit, whether reversible (quiescence) or not (differentiation). In addition, within the 3T3-L1 preadipocytes cell line, impairing the dynamics of expression of several imprinted genes impairs the transitions between different cellular states, namely proliferation, quiescence and differentiation. Our results highlight the existence of a common cellular function of imprinted genes, and provide a new frame to understand cellular quiescence, at a molecular level. Furthermore, they suggest a new plausible scenario for the implementation of genomic imprinting during mammalian evolution
Patel, Vipul Kumar [Verfasser], George [Gutachter] Coupland, and Achim [Gutachter] Tresch. "Genotyping by sequencing from sparse sequenced genomes representations from bi- and multi- parental mapping population using a HMM approach / Vipul Kumar Patel ; Gutachter: George Coupland, Achim Tresch." Köln : Universitäts- und Stadtbibliothek Köln, 2016. http://d-nb.info/1118687140/34.
Повний текст джерелаXu, Yongqin. "Studies on parental genomic imprinting of insulin-like growth factor-IImannose 6-phosphate receptor gene in humans : phenomenon, mechanism, and relevance to disease." Thesis, McGill University, 1997. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=37552.
Повний текст джерелаXu, Yongqin. "Studies on parental genomic imprinting of insulin-like growth factor-II/mannose 6-phosphate receptor gene in humans, phenomenon, mechanism, and relevance to disease." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1998. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape10/PQDD_0019/NQ44633.pdf.
Повний текст джерелаBELLEY, MONTFORT LUCILE. "Utilisation de transgenes pour l'analyse de la permissivite transcriptionnelle des genomes parentaux au cours de la gametogenese et du developpement chez la souris." Paris 11, 1999. http://www.theses.fr/1999PA112256.
Повний текст джерелаCailleau, Aurélie. "Evolution de la composition génétique du tissu nourricier de la graine : Double fécondation, polysporie et empreinte parentale." Thesis, Montpellier 2, 2010. http://www.theses.fr/2010MON20242/document.
Повний текст джерелаIn seed plants, the endosperm is a surprising nutritive tissue, because it results from double fertilization, an eccentricity which results from the parallel fertilization of the egg cell on the one hand, and of the mother cell of the endosperm, the central cell, on the other hand. In this thesis, we study the selective pressures which drive the evolution of the endosperm and may explain the evolution of (1) double fertilization, (2) a doubling of maternal contributions in the central cell, (3) polyspory, the participation of several meiotic products to the gametophyte and (4) imprinting, the differential expression of maternal and paternal alleles. These innovations modify heterozygosity in the endosperm and as a consequence, have the potential to change heterosis in the seed. In this thesis, we first investigate how genetic changes that result from double fertilization, doubling of maternal contribution, polyspory and imprinting modify heterosis, which may play in favour or against the evolution of these traits. Second, we review the available data to test whether these traits are the result of a male-female conflict over resource allocation. Finally, we study experimentally patterns of resource allocation in maize to assess whether embryos compete for resources, which is a necessary condition for the conflict over resource allocation to occur. Our theoretical models allow us to describe a male-female conflict over the exposition of deleterious alleles in tissues with asymmetrical gene expression. This conflict had never been described before and opens perspectives for understanding the evolution of gene expression. We conclude from our analysis of data that theories which are alternative to the conflict theory over resource allocation may have a better explanatory power and therefore deserve to be further explored. Finally, our experimental study in maize shows that competition between embryos drives resource allocation in this species, which is consistent with predictions of the conflict over resource allocation theory
Glaser, Juliane. "Functional characterization of the imprinted Liz/Zdbf2 locus in mice : from the early embryo to adult physiology." Electronic Thesis or Diss., Sorbonne université, 2018. http://www.theses.fr/2018SORUS243.
Повний текст джерелаGenomic imprinting refers to the epigenetic mechanism by which approximately 120 genes are expressed in a parent-of-origin manner. This parental asymmetry in gene expression is mediated through differential profiles of DNA methylation established in the oocyte and the sperm and maintained after fertilization in the developing individual. In mammals, imprinted genes are essential for normal embryo development as well as behavioral and physiological functions after birth. Clarifying the regulation and the function of those genes is thus fundamental in the field of developmental biology and health. During my PhD, I functionally characterized the imprinted Zdbf2 locus in mice. Zdbf2 is a paternally expressed gene, conserved from mouse to human, whose biological function was unknown. I revealed that Zdbf2 activation in the post-natal brain requires an indelible epigenetic signal that is established during the first days of embryogenesis. Additionally, I provided in vivo evidence that early programming of Zdbf2 is essential for proper growth after birth. By generating multiple CRISPR-mediated genetic mutants with varied doses of Zdbf2 in the hypothalamo-pituitary axis, I finally demonstrated that Zdbf2 is a growth-promoting gene, with a dose-sensitive effect and acting independently of its parental origin. Altogether, my work shed light onto the crucial function of a mammalian imprinted gene, from its regulation in the early embryo to its role in adult physiology
Martinet-Corbineau, Clémence. "Rôle du gène H19 dans les cellules souches musculaires." Thesis, Sorbonne Paris Cité, 2016. http://www.theses.fr/2016USPCB004/document.
Повний текст джерелаThe imprinted H19 gene is highly expressed during embryonic development. H19 is fully repressed after birth in all tissues, with the exception of skeletal muscle, and especially of the muscle stem cells: the satellite cells. The aim of my thesis was to define the function of the H19 gene in the satellite cells establishment and function during adult myogenesis. Using loss-of-function H19∆3 mice, the laboratory had shown that the H19 gene was able to modulate the expression of several genes belonging to an imprinted gene network (IGN) in the embryonic muscle. During my thesis, I studied the muscle phenotype of these adult mice, which present both fiber hyperplasia and hypertrophy. This phenotype is accompanied by an important reduction of the satellite cell number, probably due to a delay in their entry into quiescence. Unexpectedly, despite the reduction in the number of satellite cells in mutant mice, the self-renewal capacity of the satellite cells is fully retained. In addition, we observe a better regeneration potential of the mutant muscles compared with wt muscles. This is accompanied by the enhanced expression of several genes from the IGN. These results indicate that H19 gene can modulate IGN gene expression both during embryogenesis and after birth, in adult myogenesis
Sundström, Veronica. "Cancer i familjen : Kvinnors upplevelser av att genomgå cancerbehandling i relation till närstående." Thesis, Umeå universitet, Institutionen för omvårdnad, 2017. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-133945.
Повний текст джерелаABSTRACT Background: In Sweden, one third of the population is afflicted with cancer at some point in life. Dominant forms among women are breast cancer, gynaecological cancer and colo-rectal cancer. Many afflicted women live in family settings and are responsible for children and other relatives, which poses special demands during their illness. Aim: To illuminate women's experience of undergoing cancer treatment in relation to the family and related parties. Method: Semi-structured interviews were undertaken in 2016 with ten women who had gone through cancer treatment while living in a family setting. The applied method was qualitative contents analysis. Results: The study resulted in the main theme” Families and related parties are in an inter-personal process with the ill person” and three themes: “To be a burden and alienation”,” The struggle to safeguard the family”, “Family affected by change” and ten sub themes. Women afflicted by cancer had practical and emotional responsibilities for their families. New insights about members were gleaned and feelings of loneliness arose when others could not offer enough support, and a sense of alienation could follow. But children and partners were also sources of consolation and many women found strength in their families. Trust and deeper communications developed. Conclusion: When a mother is afflicted by cancer, her whole family is involved, as families function systemically through inter-personal processes. Satisfactory nursing thus requires family involvement during the time of illness. Key words: Cancer, family, parent, gender, communications, nursing, nurses, system.
Perry, Katherine. "Negotiating Discordance: How Adolescent-parent Dyads Reach a Joint Decision regarding which Genomic Results to Learn during a Research Study." University of Cincinnati / OhioLINK, 2021. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1626356893073779.
Повний текст джерелаRozental, Alexander. "Möjligheter och förbehåll – en diskursanalytisk studie av lesbiska kvinnors erfarenheter av att bilda familj genom assisterad befruktning inom svensk sjukvård." Thesis, Linköpings universitet, Institutionen för beteendevetenskap och lärande, 2011. http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-68123.
Повний текст джерелаDenizot, Anne-Lyse. "Identifying the role of the imprinted gene Pw1/Peg3 in the central nervous system." Thesis, Paris 6, 2015. http://www.theses.fr/2015PA066389/document.
Повний текст джерелаIn mammals, a hundred of genes are preferentially expressed from one specific parental allele; a phenomenon referred as genomic imprinting. Establishing theories to explain the emergence of such a gene dosage strategy is challenging. Pw1/Peg3 is a paternally expressed gene. Using both a reporter mouse model and a novel constitutive knockout mouse model, we detected Pw1/Peg3 transcription from the maternal allele, which is normally silent, in the perinatal brain. Specifically, we observed that a putative Pw1/Peg3 bi-allelic expression is mainly restricted to the two future adult neural stem cells niches. In vitro experiments on primary neural stem cells allowed us to conclude that imprinting relaxation of the Pw1/Peg3 maternal allele is a rare event. Whether it affects the mouse phenotype is currently under investigation. In parallel, consistent with previously established mutant mouse models we confirmed that paternal Pw1/Peg3 deletion leads to growth retardation. However we did not find any impairment in maternal behaviors upon heterozygous or homozygous loss of Pw1/Peg3. Lactation was also not disrupted and mutant pups exhibited a normal suckling ability. Taken together, PW1/PEG3 promotes growth intrinsically and can no longer be used to illustrate the popular coadaptation theory between mother and infant
Zale, Peter J. "GERMPLASM COLLECTION, CHARACTERIZATION, AND ENHANCEMENT OF EASTERN PHLOX SPECIES." The Ohio State University, 2014. http://rave.ohiolink.edu/etdc/view?acc_num=osu1417694536.
Повний текст джерелаPARMIANI, LISA CHIARA. "Legami tra generazioni e difficoltà di separazione-individuazione durante la transizione all'età adulta. Il ruolo del divorzio dei genitori e del genere in un campione di giovani italiani." Doctoral thesis, Università Cattolica del Sacro Cuore, 2008. http://hdl.handle.net/10280/234.
Повний текст джерелаWe examined the role of parental divorce and gender in young adults' involvement in dysfunctional family processes, as well as in their difficulties of separation-individuation and their psychological well-being. The first study is quantitative and was conducted with a sample of 264 subjects, aged between 20 and 30, who filled in a self report questionnaire. Results showed that children of divorced parents express more feelings of unfairness towards their family of origin, and emphasize their emotional independence from their parents. Females feel the burden of emotional caregiving for their parents more than males and are more vulnerable to depression. Moreover, females are more afraid of losing their parents' love. In the second study we used a mixed method approach to study generational boundaries and separation-individuation difficulties in a small sample of young women with divorced parents. Results showed that the transition to adulthood may either be hindered by the emotional burden of children's responsibilities towards the parents (especially the mother) or accelerated by the need to put one's familiar experience at a distance. In the third study, through two case studies, we explored some of the results obtained in the multimethodological section. This analysis suggested the importance of considering the role of the paternal function in helping young women separate from their mothers in single parent families.
Alexis, Mariana, and Österberg Martin. "Icke-farmakologiska interventioner som reducerar preoperativ oro och ångest hos föräldrar till barn som ska genomgå kirurgi : En systematisk litteraturstudie." Thesis, Linnéuniversitetet, Institutionen för hälso- och vårdvetenskap (HV), 2021. http://urn.kb.se/resolve?urn=urn:nbn:se:lnu:diva-102431.
Повний текст джерелаBackground: Half of all parents experience anxiety before the child undergoes anesthesia. Preoperative worry and anxiety in parents may, for example, be due to the fact that the surgical environment is experienced as frightening and that the child may experience pain during the course of care, but may also be related to anesthesia induction and the separation from the child that arises. The anxiety that parents experience can be transmitted to and cause negative effects on the child. Aim: The aim was to examine available interventions and their effects regarding intention of reducing preoperative worry and anxiety in parents of children undergoing surgery. Method: A systematic literature review was conducted where 12 quantitative original studies were applied from the databases Cinahl, Pubmed and PsycInfo, which were quality checked and systematically analyzed. Relevant results from the articles were extracted in accordance to Bettany-Saltikov and McSherry where the intention was to generate the results of this review by synthesization. Results: The systematic literature review demonstrates that preoperative preparations in terms of Teaching by digital aids, Distraction by play, humor and music, Preparation by preoperative information and Combined preoperative teaching, medical play and tour are interventions reducing preoperative worry and anxiety in parents. Conclusion: The results demonstrate that several interventions had a reducing effect regarding preoperative worry and anxiety in parents, but in addition that interventions must be individually customized and sufficiently directed at parents to obtain the desired effect.
Abi, Habib Walid. "Identification de nouveaux mécanismes moléculaires dans les pathologies de croissance fœtale et postnatale des syndromes de Beckwith-Wiedemann et de Silver-Russell : approche génétique et épigénétique." Thesis, Paris 6, 2016. http://www.theses.fr/2016PA066151.
Повний текст джерелаFetal and postnatal growth is a process finely regulated by genetic, epigenetic and environmental complex. The IGFs system (insulin-like growth factors) is one of the main actors playing a crucial role in fetal and postnatal development. In humans, several mutations of IGF1 and IGF-1R genes and a paternal IGF2 mutation have been reported in patients with intrauterine growth restriction (IUGR), which can persist and/or worsen in postnatal life. Moreover, epigenetic phenomena such as DNA methylation and histone code also play a major role in fetal and postnatal development. Genomic imprinting, established due to epigenetic marks, is one of the major mechanisms for fetal development. In humans, abnormal regulation of genes subject to imprinting is associated with several syndromes of intrauterine and postnatal growth restriction or conversely excessive growth. This work has two parts: we initially particularly interested in the genetic and epigenetic study of the 11p15.5 region and its imprinting control region regulating the IGF2/H19 domain in a population of patients with overgrowth or IUGR (Beckwith-Wiedemann syndrome and Russell-Silver respectively), to better understand the regulation of this area. Then, the second part of our study focused on the identification of new genetic and epigenetic causes of Silver-Russell syndrome, altering the expression of IGF2, without being directly caused by a molecular defect of 11p15.5 region
Cercy, Jil. "Vers l'identification des facteurs impliqués dans la régulation concertée des gènes soumis à empreinte dans le cerveau." Thesis, Université Clermont Auvergne (2017-2020), 2019. http://www.theses.fr/2019CLFAC061.
Повний текст джерелаOne major challenge in genomic imprinting is to understand how the expression of imprinted loci is regulated at different developmental stages and tissues. This issue is of particular importance in brain where the fine-tuned regulation of imprinted expression is involved in various neurological processes. Recently, my host team revealed that the so-called bivalent chromatin structure at Imprinting Control Regions (ICR), combining the permissive H3K4me3 and repressive H3K27me3 marks, contributes to the appropriate tissue-specific expression of imprinted genes. My objective is to identify the transcription factors (TF) controlling H3K27me3 dynamic at ICR during neural lineage commitment by using a validated in vitro model of murine corticogenesis. By a candidate-based approach, I identified TET3 (ten-eleven translocation 3) as a regulator potentially involved in differential DNA methylation maintenance at Peg10, Impact and Zrsr1 ICR. Moreover, TET3 indirectly regulates other imprinted loci, such as Mest and Peg3, possibly by activating the H3K27me3-specific demethylase gene Jmjd3 (jumonji domain containing 3) in neural lineages. Meanwhile, the main part of my thesis aims to identify those TF exhaustively by conducting an original non-biased approach. Our rational is that the regulation of imprinted genes relies on Polycomb- and TF-mediated physical networks that regulate H3K27me3 dynamic at ICR. With the model of corticogenesis, we have recently generated a high-resolution map of allelic molecular signatures and genome architecture at imprinted domains, mainly by the mean of allelic 4C (circular chromosome conformation capture) experiments using 10 ICR as bait. In this manuscript, a preliminary analysis allowed us to observe that ICR are involved in cis-interactions with imprinted genes promoters, and that these contacts are frequently mediated by paternal unmethylated allele of ICR. Those observations raise the question about the potential enhancer function of ICR. Once high-throughput data from RNA-seq, ChIP-seq, RRBS and 4C at two steps of corticogenesis fully analyzed, it will provide an allelic and integrative view of linear genomics features dynamic, such as histone modifications and transcription, in combination with the dynamic of the 3D organization at ICR. This unprecedented resource will be treated by mathematical modeling to identify robust candidate actors of brain-specific imprinted expression. Outcome of this project will provide us relevant, and so far missing, tools to decipher the underlying mechanisms involved in brain-specific imprinting in normal and pathological contexts
Forde, Alison Christine. "Genome Size Diversity and Patterns within the Annelida." Thesis, 2013. http://hdl.handle.net/10214/5375.
Повний текст джерелаXiang, Ruidong. "Differential maternal and paternal genome effects on placental and fetal phenotype and gene expression at midgestation." Thesis, 2014. http://hdl.handle.net/2440/104056.
Повний текст джерелаThesis (Ph.D.) -- University of Adelaide, School of Animal and Veterinary Sciences , 2014.
Guo, Zheng Kun, and 郭政昆. "Distinguishing of parental genomes in nicotiana somatic hybrids by in situ hybridization." Thesis, 1994. http://ndltd.ncl.edu.tw/handle/42548124217972304808.
Повний текст джерелаChung, Ping-Yuan, and 鍾秉元. "Determination of Parental Lines for Biparental Crossing in Rice using Genomic Prediction." Thesis, 2019. http://ndltd.ncl.edu.tw/handle/cq8dmv.
Повний текст джерела國立臺灣大學
農藝學研究所
107
The determination of parental lines is the first and most important step to a successful bi-parental crossing plant breeding program. A set of superior parental lines can lead to high performing recombinant inbred lines (RILs). In this study, we propose to select parental lines of rice based on genomic prediction (GP). The GP is applied to predict genomic estimated breeding values (GEBVs) for all the candidate parental lines and the RILs after several generations of self-pollinating. Some strategies of selecting the parental lines are investigated through simulation studies based on a high-quality rice genome dataset. It is shown that the best strategy in general takes both the GEBVs and the genomic diversity of parental lines into account. In this study, we present a set of parental lines for each of 21 quantitative traits. We also investigate the best selection strategy for 6 different combinations of two target traits. Our proposed systematic analysis procedure can be applicable to other self-pollinated crops, and it is readily extended to the more complex multi-trait situations with three or more target traits. Some R functions are provided for users to exercise the analysis procedure.
Hore, Tim. "The Evolution of Genomic Imprinting and X Chromosome Inactivation in Mammals." Phd thesis, 2008. http://hdl.handle.net/1885/49309.
Повний текст джерелаFrappier, Andrée-Ann. "Par-delà le rose et le bleu : l'expérience des parents d'enfants transgenres." Thèse, 2018. http://hdl.handle.net/1866/20724.
Повний текст джерелаTremblay, Isabelle. "Utilisation des tests génétiques en neuro-développement : perspectives médicales et parentales." Thèse, 2018. http://hdl.handle.net/1866/22558.
Повний текст джерелаShapiro, Jonathan. "A Novel Approach to Identify Candidate Imprinted Genes in Humans." Thesis, 2012. http://hdl.handle.net/1807/32278.
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