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  • About
  • The Global ETD Search service is a free service for researchers to find electronic theses and dissertations. This service is provided by the Networked Digital Library of Theses and Dissertations.
    Our metadata is collected from universities around the world. If you manage a university/consortium/country archive and want to be added, details can be found on the NDLTD website.
91

Refining the Use of Polygenic Risk Scores for Alzheimer's Disease in Diverse and Founder Populations

Osterman, Michael David 26 May 2023 (has links)
No description available.
92

Life and worship : a practical theological enquiry into the activities of the Perth Asian Christian community

Smit, Gail 11 1900 (has links)
The focus of this practical theological study is the analysis of the life and worship of the Perth Asian Christian Community in the New Life City Church, where we note fast maturation of Christians with a desire to complete the Great Commission. As participant observer using the qualitative method, I was able to identify how the NLCC is wall-less by interviewing different groups within the church and two Western sample groups. To accomplish this, Chapter two analyses the Western and Asian churches’ understanding of the concepts ‘church’ and ‘church growth’. The evaluations showed a difference in understanding. This prompted an inquiry in chapter three into their understanding of the Great Commission from the Western and Asian viewpoint against the Biblical understanding thereof. The intention of NLCC groups interviewed in Chapters four to eight was to detect what they perceived as helping them mature as Christians, considering many are first-generation Christians. The groups interviewed included founder members, first-generation Christians, youth group leaders, returned NLCC missionaries and the pastor. By Chapter nine it was established that the Asian Christian understood worship in a broader context. Chapter ten summarises the interpreted data of the groups interviewed and identifies stimulants for maturation of individual Christians in a post-Christian environment. The broader understanding of worship is discussed. These guidelines form the building blocks for a practical theological theory of church growth. / Practical Theology / D. Th. (Practical Theology)
93

Genetic Landscape of Joubert syndrome in French Canadians

Srour, Myriam 06 1900 (has links)
Le syndrome de Joubert est une maladie récessive caractérisée par une malformation congénitale distincte du tronc cérébral et du cervelet, associée à une anomalie des mouvements oculaires (apraxie oculomotrice), une respiration irrégulière, un retard de développement, et une ataxie à la démarche. Au cours de la dernière décennie, plus de 20 gènes responsables ont été identifiés, tous ayant un rôle important dans la structure et la fonction des cils primaires. Ainsi, le syndrome de Joubert est considéré une ciliopathie. Bien que le Syndrome de Joubert ait été décrit pour la première fois dans une famille canadienne-française en 1969, le(s) gène(s) causal demeurait inconnu dans presque tous les cas de syndrome de Joubert recensés en 2010 dans la population canadienne-française, soit début de mon projet doctoral. Nous avons identifié un total de 43 individus canadiens-français (35 familles) atteints du syndrome de Joubert. Il y avait un regroupement de familles dans la région du Bas-Saint-Laurent de la province de Québec, suggérant la présence d'un effet fondateur. L’objectif de ce projet était de caractériser la génétique du syndrome de Joubert dans la population canadienne-française. Notre hypothèse était qu’il existait un effet fondateur impliquant au moins un nouveau gène JBTS. Ainsi, dans un premier temps, nous avons utilisé une approche de cartographie par homozygotie. Cependant, nous n’avons pas identifié de région d’homozygotie partagée parmi les individus atteints, suggérant la présence d’une hétérogénéité génétique ou allélique. Nous avons donc utilisé le séquençage exomique chez nos patients, ce qui représente une approche plus puissante pour l’étude de conditions génétiquement hétérogènes. Nos travaux ont permis l’identification de deux nouveaux gènes responsables du syndrome de Joubert: C5orf42 et TMEM231. Bien que la localisation cellulaire et la fonction de C5orf42 soient inconnus au moment de cette découverte, nos résultats génétiques combinés avec des études ultérieures ont établi un rôle important de C5orf42 dans la structure et la fonction ciliaire, en particulier dans la zone de transition, qui est une zone de transition entre le cil et le reste de la cellule. TMEM231 avait déjà un rôle établi dans la zone de transition ciliaire et son interaction avec d’autres protéines impliquées dans le syndrome de Joubert était connu. Nos études ont également identifié des variants rares délétères chez un patient JBTS dans le gène ciliaire CEP104. Nous proposons donc CEP104 comme un gène candidat JBTS. Nous avons identifié des mutations causales dans 10 gènes, y compris des mutations dans CC2D2A dans 9 familles et NPHP1 dans 3 familles. Au total, nous avons identifié les mutations causales définitives chez 32 des 35 familles étudiées (91% des cas). Nous avons documenté un effet fondateur complexe dans la population canadienne-française avec de multiples mutations récurrentes dans quatre gènes différents (C5orf42, CC2D2A, TMEM231, NPHP1). Au début de ce projet de recherche, l’étiologie génétique était inconnue chez les 35 familles touchées du syndrome de Joubert. Maintenant, un diagnostique moléculaire définitif est identifié chez 32 familles, et probable chez les 3 autres. Nos travaux ont abouti à la caractérisation génétique du syndrome de Joubert dans la population canadienne-française grâce au séquençage exomique, et révèlent la présence d'un effet fondateur complexe avec une l'hétérogénéité allélique et intralocus importante. Ces découvertes ont éclairé la physiologie de cette maladie. Finalement, l’identification des gènes responsables ouvre de nouvelles perspectives diagnostiques ante-natales, et de conseils génétique, très précieuses pour les familles. / Joubert syndrome (JBTS) is a primarily autosomal recessive disorder characterized by a distinctive mid-hindbrain/cerebellum malformation, eye movement abnormalities (oculomotor apraxia), irregular breathing, developmental delay, and ataxia. Over the past decade, over 20 causal genes have been identified, all of which have an important role in the structure and function of the primary cilia. Thus, JBTS joins an expanding category of diseases termed “ciliopathies”. Though JBTS was first described in affected siblings of a French Canadian (FC) family in 1969, the underlying genesis basis of the disorder was unknown in the overwhelming majority of FC cases at the onset of this doctoral project in 2010. We identified a total of 43 FC individuals with JBTS from 35 families. We observed a clustering of the affected families in the Lower Saint-Lawrence region of the province of Quebec, suggesting the presence of a founder effect. The aim of this doctoral project was to characterize the genetic landscape of JBTS in the FC population, and we hypothesized the presence of a founder effect in novel JBTS gene(s). Therefore, we initially used a homozygosity mapping approach. However, we did not identify any shared regions of homozygosity amongst affected individuals, suggesting the presence of genetic and/or allelic heterogeneity. We therefore primarily used a whole exome sequencing approach in our JBTS patients, a strategy that is better suited for the study of genetically heterogeneous conditions. Our work has resulted in the identification of two novel JBTS genes: C5orf42 and TMEM231. In total, we have identified causal mutations in C5orf42 in 14 families (including the original JBTS family described in 1969), and TMEM231 in 2 families. Though the function and cellular localization of C5orf42 was not known at the time of the publication of our manuscript, our genetic findings combined with subsequent animal and cellular work establish the important role of C5orf42 in ciliary structure and function, particularly at the ciliary transition zone. TMEM231 had been previously shown to localize to the ciliary transition zone and interact with several JBTS gene products. We also identified deleterious rare variants in one JBTS patient in the ciliary gene CEP104, implicating CEP104 as a strong candidate JBTS gene. We identified causal mutations in 10 JBTS genes, including CC2D2A in 9 families and NPHP1 in 3 families. Definite causal mutations were identified in 32 of 35 families (91% of cases). We documented a complex founder effect in the FC population with multiple recurrent mutations in 4 different genes (C5orf42, CC2D2A, TMEM231, NPHP1). Prior to the start of this research endeavor, the underlying genetic etiology of Joubert syndrome was unknown in all 35 families. Now, a definite molecular diagnosis has been identified in 32 families, and a probable molecular diagnosis in the remaining 3. Therefore, our work has resulted in the unraveling of the genetic basis of JBTS in the French-Canadian population using WES, and reveals the presence of a complex founder effect with substantial locus and allelic heterogeneity.
94

Regulation of Plant Patterning by Polar Auxin Transport

Marcos, Danielle 05 September 2012 (has links)
During embryogenesis and post-embryonic patterning, active transport of the phytohormone auxin, reflected in the expression of the Arabidopsis PIN family of auxin efflux mediators, generates local auxin distributions that are crucial for correct organ and tissue specification. Polar auxin transport routes have also long been postulated to regulate vein formation in the leaf. The molecular identification of PIN proteins has made it possible to investigate this hypothesis further by visualizing auxin transport routes in developing leaves. In Arabidopsis leaf primordia, PIN1 is expressed before the earliest known markers of vascular identity, in domains that are gradually restricted to sites of vein formation. PIN1 polarity indicates that auxin is directed towards distinct “convergence points” (CPs) in the marginal epidermis, from which it defines the sites of major vein formation. Within incipient veins, PIN1 polarity indicates drainage of auxin into preexisting veins, such that veins connected at both ends display two divergent polarities. Local auxin application triggers the formation of ectopic CPs and new veins, demonstrating the sufficiency of auxin as a vein-specifying signal. However, not all PIN1-labeled auxin transport routes differentiate as veins: Minor veins are initially unstable, suggesting local competition for auxin transport. Expression of ATHB8, a marker of vascular cell selection, correlates with enhanced PIN1 expression domain (PED) stability and vascular differentiation. Auxin application and auxin transport inhibition reveal that both CP formation in the epidermis and subepidermal PED dynamics are auxin-dependent and self-organizing. Furthermore, normal auxin perception through the ARF-Aux/IAA signaling pathway is required for the restriction of PIN1-mediated auxin transport to narrow subepidermal domains. ARF-Aux/IAA signaling is known to control auxin transport through the regulation of PIN1 dynamics, but the mechanism of this regulation is unclear. It is here shown that two redundantly acting AUXIN RESPONSE FACTOR (ARF) transcription factors, ARF5/MONOPTEROS (MP) and ARF7/NPH4, jointly regulate both PIN1 expression and localization during lateral root patterning in Arabidopsis, in part through the direct transcriptional activation of PIN1 by MP. Taken together, these results indicate that feedback between PIN-mediated auxin transport and ARF-Aux/IAA signaling regulates the patterning of root and shoot organs.
95

Regulation of Plant Patterning by Polar Auxin Transport

Marcos, Danielle 05 September 2012 (has links)
During embryogenesis and post-embryonic patterning, active transport of the phytohormone auxin, reflected in the expression of the Arabidopsis PIN family of auxin efflux mediators, generates local auxin distributions that are crucial for correct organ and tissue specification. Polar auxin transport routes have also long been postulated to regulate vein formation in the leaf. The molecular identification of PIN proteins has made it possible to investigate this hypothesis further by visualizing auxin transport routes in developing leaves. In Arabidopsis leaf primordia, PIN1 is expressed before the earliest known markers of vascular identity, in domains that are gradually restricted to sites of vein formation. PIN1 polarity indicates that auxin is directed towards distinct “convergence points” (CPs) in the marginal epidermis, from which it defines the sites of major vein formation. Within incipient veins, PIN1 polarity indicates drainage of auxin into preexisting veins, such that veins connected at both ends display two divergent polarities. Local auxin application triggers the formation of ectopic CPs and new veins, demonstrating the sufficiency of auxin as a vein-specifying signal. However, not all PIN1-labeled auxin transport routes differentiate as veins: Minor veins are initially unstable, suggesting local competition for auxin transport. Expression of ATHB8, a marker of vascular cell selection, correlates with enhanced PIN1 expression domain (PED) stability and vascular differentiation. Auxin application and auxin transport inhibition reveal that both CP formation in the epidermis and subepidermal PED dynamics are auxin-dependent and self-organizing. Furthermore, normal auxin perception through the ARF-Aux/IAA signaling pathway is required for the restriction of PIN1-mediated auxin transport to narrow subepidermal domains. ARF-Aux/IAA signaling is known to control auxin transport through the regulation of PIN1 dynamics, but the mechanism of this regulation is unclear. It is here shown that two redundantly acting AUXIN RESPONSE FACTOR (ARF) transcription factors, ARF5/MONOPTEROS (MP) and ARF7/NPH4, jointly regulate both PIN1 expression and localization during lateral root patterning in Arabidopsis, in part through the direct transcriptional activation of PIN1 by MP. Taken together, these results indicate that feedback between PIN-mediated auxin transport and ARF-Aux/IAA signaling regulates the patterning of root and shoot organs.
96

Life and worship : a practical theological enquiry into the activities of the Perth Asian Christian community

Smit, Gail 11 1900 (has links)
The focus of this practical theological study is the analysis of the life and worship of the Perth Asian Christian Community in the New Life City Church, where we note fast maturation of Christians with a desire to complete the Great Commission. As participant observer using the qualitative method, I was able to identify how the NLCC is wall-less by interviewing different groups within the church and two Western sample groups. To accomplish this, Chapter two analyses the Western and Asian churches’ understanding of the concepts ‘church’ and ‘church growth’. The evaluations showed a difference in understanding. This prompted an inquiry in chapter three into their understanding of the Great Commission from the Western and Asian viewpoint against the Biblical understanding thereof. The intention of NLCC groups interviewed in Chapters four to eight was to detect what they perceived as helping them mature as Christians, considering many are first-generation Christians. The groups interviewed included founder members, first-generation Christians, youth group leaders, returned NLCC missionaries and the pastor. By Chapter nine it was established that the Asian Christian understood worship in a broader context. Chapter ten summarises the interpreted data of the groups interviewed and identifies stimulants for maturation of individual Christians in a post-Christian environment. The broader understanding of worship is discussed. These guidelines form the building blocks for a practical theological theory of church growth. / Philosophy, Practical and Systematic Theology / D. Th. (Practical Theology)
97

Balanced initial teams in early-stage software startups:building a team fitting to the problems and challenges

Seppänen, P. (Pertti) 29 May 2018 (has links)
Abstract The rapid development of digital technology and software in recent years has created great variety of totally new business opportunities. Software startups are commonly considered to be the fastest in exploiting the new opportunities and the most innovative in creating new products and services. At the same time, software startups are often small, immature enterprises with limited resources and inexperienced teams. The initial team plays a key role in the early stages of a software startup. This research focuses on the initial team from the perspective of human capital – the knowledge, experiences, skills, and other cognitive abilities. It studies the initial team empirically, utilizing the multi-case study and triangulation methods applying the human capital, resource-based view, capability, and the opportunity discovery and creation theories. The empirical data were gathered from thirteen software startups in Italy, Norway and Finland, and from a student experiment. From the analysis of this data, a generic structure of a software startup’s initial team was identified, consisting of three different roles, with each having a specific human capital profile. This team structure sought a balance between the team’s human capital and problems and challenges to be solved. The level of the initial human capital of the team and the means to strengthen it varied, and affected the progress of the work in the studied startups. Though the components of the team’s human capital were not rare and inimitable in terms of the resource-based view, building a balanced startup team created a unique and task-specific setup, which is a key capability of a software startup. The balanced startup team structure is proposed to be the generic human capital model of a software startup’s initial team. / Tiivistelmä Digitaalitekniikan ja ohjelmistojen nopea kehitys viime vuosina on synnyttänyt suuren joukon kokonaan uusia liiketoimintamahdollisuuksia. Ohjelmistostartup-yrityksiä pidetään yleisesti nopeimpina hyödyntämään uusia mahdollisuuksia ja erityisen innovatiivisina luomaan uusia tuotteita ja palveluita. Kuitenkin samalla, ohjelmistostartup-yritykset ovat usein pieniä, kehityksensä alussa olevia yrityksiä, joilla on pienet resurssit ja kokematon henkilökunta. Varhaisen vaiheen ohjelmistostartup-yrityksissä alkutiimin merkitys on keskeinen. Tässä tutkimuksessa tarkastellaan alkutiimiä inhimillisen pääoman, osaamisen, kokemuksen ja taitojen, näkökulmasta. Tutkimuksessa tarkastellaan alkutiimiä kokeellisesti, käyttäen monitapaustutkimuksen ja triangulaation menetelmiä ja soveltaen inhimillisen pääoman, resurssipohjaisen näkemyksen, kyvykkyyden ja liiketoimintamahdollisuuksien hyödyntämisen teorioita. Kokeellinen tutkimusaineisto on kerätty kolmestatoista yrityksestä Italiasta, Norjasta ja Suomesta ja yhdestä opiskelijoilla tehdystä kokeellisesta tutkimuksesta. Tutkimuksessa löydettiin alkutiimin yleinen malli. Mallissa on kolme roolia, kullakin oma inhimillisen pääoman profiili. Mallissa on tiimin inhimillisen pääoman ja ratkaistavien ongelmien tasapaino. Tiimien inhimillisen pääoman määrä ja sen kehitystavat vaihtelivat, ja vaikuttivat tutkittavien yritysten edistymiseen. Vaikka alkutiimien inhimillisen pääoman komponentit eivät olleet ainutkertaisia resurssipohjaisen näkemyksen kannalta, tasapainossa olevan alkutiimin rakentaminen synnytti ainutkertaisen, tehtävänmukaisen tiimirakenteen, jota voidaan pitää yrityksen keskeisenä kyvykkyytenä. Havaittu tiimirakenne esitetään yrityksen alkutiimin inhimillisen pääoman yleiseksi malliksi.
98

Descartovo pojetí prvních principů / Descartes' Conception of the First Principles

Křížek, Pavel January 2017 (has links)
Descartes' Conception of the First Principles RNDr. Bc. Pavel KŘÍŽEK Master's degree thesis, Prague, June 2017 Summary In this Master's thesis, seven interpretations of Descartes' Cogito are reviewed. The introductory chapter presents a brief explanation of the origin and development of Descartes' views on the role of the first philosophical principles, in fact, the principles of certain knowledge, that is, principles understood by him as the necessary and indispensable starting point for laying the foundations of all science. First - naturally - Descartes' own diverse formulations of Cogito are reproduced. Then, based on relevant text and (their) broader context, all Descartes' necessary concepts and terms concerning Cogito are systematically explained. The second chapter, which is the core of the entire study, contains short reviews of seven interpretations of Descartes' Cogito as presented in a number of established academic publications as well as in more recent papers. Every review is then briefly commented on. The authors of the seven interpretations were chosen to show the differences in understanding and explaining Descartes' first principle, as established on the European continent by the philosophical traditions of German-speaking countries, beginning with Hegel's attitude towards Descartes, on...

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