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You searched for +publisher:"Trinity College Dublin" +contributor:("Mitchell, Kevin"). Showing records 1 – 2 of 2 total matches.

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1. RAMMOS, ALEXANDROS. Interpretation and improvement of the current genetic epidemiology methodology for schizophrenia.

Degree: School of Genetics & Microbiology. Discipline of Genetics, 2018, Trinity College Dublin

Recent technological advancements have allowed for the development of new methodologies in the investigation of the genetic epidemiology of schizophrenia. Two of the most prominent methods in that field are the Polygenic Risk Scores (PRS) and the Genetic Restricted Maximum Likelihood (GREML) approach. Both methods analyse Single Nucleotide Polymorphism (SNP) data to calculate heritability estimates for polygenic traits. Three separate studies were carried out in the context of this thesis to investigate the means through which these methods operate and devise ways to optimise their function, as well as, improve their interpretability, in the context of schizophrenia research. The first and second study focused on PRS, with the former attempting to use experimentally derived information to improve the interpretability of PRS results, in the context of translating them into meaningful information for the genetic architecture of schizophrenia, while in the latter, three prominent means of applying PRS were compared in extensive simulated scenarios. In the third study, an application of GREML on a population cohort was used as a means to investigate the possibility that this method might be affected by hidden population substructure. Furthermore, a comparison between GREML and GREML-IBD which takes into account rare variants to calculate heritability estimates is made. This thesis highlighted potential methodological limitations of two of the most commonly used approaches in schizophrenia research and through their implementation on both population and clinical-based samples proposed novel means of improving them. Advisors/Committee Members: Mitchell, Kevin.

Subjects/Keywords: Schizophrenia; Polygenic Score

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6th Edition):

RAMMOS, A. (2018). Interpretation and improvement of the current genetic epidemiology methodology for schizophrenia. (Thesis). Trinity College Dublin. Retrieved from http://hdl.handle.net/2262/83241

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

RAMMOS, ALEXANDROS. “Interpretation and improvement of the current genetic epidemiology methodology for schizophrenia.” 2018. Thesis, Trinity College Dublin. Accessed August 21, 2019. http://hdl.handle.net/2262/83241.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

RAMMOS, ALEXANDROS. “Interpretation and improvement of the current genetic epidemiology methodology for schizophrenia.” 2018. Web. 21 Aug 2019.

Vancouver:

RAMMOS A. Interpretation and improvement of the current genetic epidemiology methodology for schizophrenia. [Internet] [Thesis]. Trinity College Dublin; 2018. [cited 2019 Aug 21]. Available from: http://hdl.handle.net/2262/83241.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

RAMMOS A. Interpretation and improvement of the current genetic epidemiology methodology for schizophrenia. [Thesis]. Trinity College Dublin; 2018. Available from: http://hdl.handle.net/2262/83241

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

2. Mitsogiannis, Manuela D. Genetic analyses of thalamocortical axon guidance and subpallial development.

Degree: 2016, Trinity College (Dublin, Ireland). Department of Genetics

THESIS 10967

Normal brain functioning in mammals depends on the establishment of specific, finely-organised neural networks connecting distant regions during development. In particular, sensory stimuli processing is supported by projections from the thalamus to the neocortex. Information from different sensory modalities reaches the thalamus and is here segregated into discrete, specialised nuclei; neurons in each nucleus then send, through topographically-defined axonal connections, elaborated inputs to cognate cortical areas. Our laboratory has previously demonstrated that Semaphorin-6A (Sema6A) exerts key functions in thalamocortical tract formation. During normal brain development, thalamocortical axons (TCAs) extend dorso-laterally through the ventral telencephalon (vTel) to approach the neocortex; axonal navigation in these stages is aided by guiding cell populations, such as the corridor neurons and the guidepost cells of the internal capsule (IC). In Sema6A null mice, however, the caudally-directed dorsal lateral geniculate nucleus (dLGN) axons abnormally extends in the vTel pial surface. How Sema6A influences TCA guidance so specifically has yet to be elucidated. Since interactions between Sema6A, Plexin-A2 (PlxnA2) and Plexin-A4 (PlxnA4) have been implicated in diverse neurodevelopmental processes, we hypothesised that PlxnA2/PlxnA4 might also mediate Sema6A?s dLGN axon guidance functions at subpallial level. In the first part of this study, we therefore focused on characterising thalamocortical tract development in PlxnA2;PlxnA4 double mutants. The analysis of early postnatal mutant brains, performed through axonal marker-specific immunostaining and neuroanatomical tracing techniques, revealed substantial defects in TCA pathfinding which extensively mirrored those observed in Sema6A mutant brains. These findings supported the hypothesised role of Sema6A?PlxnA2-PlxnA4 interactions in TCA guidance. Genetic interaction studies employing Sema6A;PlxnA2 and Sema6A;PlxnA4 mutant mice provided more evidence in favour of this model. In order to understand where and when Sema6A?PlxnA2-PlxnA4 interactions may be required for proper subpallial TCA guidance, we next analysed the spatiotemporal dynamics of Sema6A, PlxnA2 and PlxnA4 expression during early stages of TCA extension in the vTel. We specifically concentrated on characterising expression (i) in thalamic neurons and fibers, and (ii) within intermediate structures that delineate TCA subpallial trajectories, and contain guidepost neural population. mRNA and protein expression were investigated through in situ hybridisation and double immunohistochemistry with known markers for TCAs and specific vTel cell populations. The data we obtained provided novel information on the presence of these guidance molecules in specific mouse forebrain regions from E12.5 to E14.5. Interestingly, we observed that only Sema6A is present in caudally-projecting thalamic neurons, while all proteins are expressed in corridor cells and other structures in the developing basal…

Advisors/Committee Members: Mitchell, Kevin.

Subjects/Keywords: Genetics, Ph.D.; Ph.D. Trinity College Dublin

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6th Edition):

Mitsogiannis, M. D. (2016). Genetic analyses of thalamocortical axon guidance and subpallial development. (Thesis). Trinity College (Dublin, Ireland). Department of Genetics. Retrieved from http://hdl.handle.net/2262/83148

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

Mitsogiannis, Manuela D. “Genetic analyses of thalamocortical axon guidance and subpallial development.” 2016. Thesis, Trinity College (Dublin, Ireland). Department of Genetics. Accessed August 21, 2019. http://hdl.handle.net/2262/83148.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

Mitsogiannis, Manuela D. “Genetic analyses of thalamocortical axon guidance and subpallial development.” 2016. Web. 21 Aug 2019.

Vancouver:

Mitsogiannis MD. Genetic analyses of thalamocortical axon guidance and subpallial development. [Internet] [Thesis]. Trinity College (Dublin, Ireland). Department of Genetics; 2016. [cited 2019 Aug 21]. Available from: http://hdl.handle.net/2262/83148.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Mitsogiannis MD. Genetic analyses of thalamocortical axon guidance and subpallial development. [Thesis]. Trinity College (Dublin, Ireland). Department of Genetics; 2016. Available from: http://hdl.handle.net/2262/83148

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

.