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RISS 인기검색어
- 검색키워드
- 저자 : Griffin, Peter James (검색결과 134 건)
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Genetic analysis of complex and Mendelian diseases
Griffin, Nicole Gabrielle The University of North Carolina at Chapel Hill 2014 해외박사(DDOD)
This work describes approaches for discovering genetic variants that contribute to the etiology of human diseases with complex and simple modes of inheritance through the use of linkage analysis, genome-wide association analysis, and massively parallel sequencing (MPS). The studies contained in this work illustrate both the capabilities and limitations of these approaches. The two GWA studies in this work illustrated how reducing genetic and population heterogeneity could increase the ability to detect associations with genome-wide significance. The first, a GWA study of idiopathic Parkinson's disease (IPD), was able to detect an association signal that approached genome-wide significance across chromosome 12q12, including the LRRK2 locus (average p-value=4.85 x 10-6), which has been implicated in IPD by several linkage studies. The second, a pilot GWA study of dystonia, identified an association with genome-wide significance at RNF213. The second half of this work employed MPS approaches to investigate the genetics of familial presentations of disease. The first, a study of a family with an atypical presentation of frontotemporal dementia with amyotrophic lateral sclerosis, was unable to detect an obvious deleterious mutation despite sequencing the exomes of 10 individuals and the whole genome of 1 individual in this family. The exome sequencing data from this family were used to perform a multipoint linkage analysis, which potentially implicated chromosome 9q in this family. In this region, all affected family members shared a synonymous mutation in CRB2, a gene in the gamma-secretase pathway. The final study featured a genome-wide linkage analysis of a pedigree affected with a microcoria myopathy and a combined whole genome and whole exome sequencing analysis of this pedigree and 7 unrelated individuals. The linkage analysis found a multipoint LOD score of 1.8 on Chromosome 5q35. Exome sequencing detected a missense mutation shared by the affected family members in C5orf60 : c.97C>T (p.P33S) that was also found in an exome from an unrelated subject. Another missense mutation in C5orf60, c.64G>C (p.D22H), was present in the exomes from 5 of the unrelated subjects. These results suggest that mutations in C5orf60 are a novel cause of microcoria and also corroborate the genetic heterogeneity of this condition.
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Griffin, Tiffany Monique University of Michigan 2009 해외박사(DDOD)
This dissertation examined how discrimination perpetration, operationalized as systematic biases against low power targets in affirmative action endorsement, influenced access to higher education within and between groups. The dissertation provided a description and review of discrimination perpetration. In this review, discrimination perpetration was distinguished from the experience of discrimination; the psychological components of institutional discrimination, the role of intersectionality, and the importance of considering context were also discussed. The review served as a foundation for two subsequent empirical studies. The first empirical study examined gender-based affirmative action endorsements for targets when their race and gender were simultaneously made salient. This study found that White female participants endorsed gender-based affirmative action equally for all targets. White male participants were more likely to endorse gender-based affirmative action for White female and Black male targets, than for Black female targets. The final study investigated social class-based affirmative action when targets' race, class, and gender were simultaneously salient, and when ambiguity was manipulated via the targets' preparedness. There were no differences in the likelihood that White female participants endorsed affirmative action for White and Black female targets from low or high social class backgrounds or for White and Black male targets from low social class backgrounds. There was a higher likelihood that female participants endorsed affirmative action for White male targets from higher social class backgrounds than for Black male targets from higher social class backgrounds. There was no difference in the likelihood that White male participants endorsed affirmative action for Black and White highly prepared targets from low or high social class backgrounds, or to Black and White targets from low social class backgrounds who were moderately prepared. Yet, there was a higher likelihood that White male participants endorsed affirmative action for moderately prepared White targets from high social class backgrounds, than for moderately prepared Black targets from high social class backgrounds. Together, the results suggest that policy endorsements vary according to targets' multiple group memberships simultaneously. The results have implications for policies designed to bolster equal access to higher education and for the psychological study of discrimination perpetration in higher education.
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Growth and Development of Modern Commercial Broiler Chickens Under Nutritional Influences
Griffin, Jacqueline Reedy ProQuest Dissertations & Theses The Ohio State Uni 2017 해외박사(DDOD)
The overarching objective of the current research was to investigate morphological (growth) and biochemical (transcription) events underlying skeletal muscle growth and developmental in an ontogeny study using the P. major breast muscle of broil. Through quantitative gene transcriptional analysis we were able to investigate the transcriptional events underlying post-hatch skeletal muscle growth and development. Of particular interest was the temporal transcription of developmental MyHC i. The overarching goal of maximizing growth in broiler chickens, for the production of meat, has perpetuated two areas of research that remain a central area of interest in both industry and academia.
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