91 |
Comparison of the activities of two allelic variants of the human wildtype p53 proteinKalita, Ann Marie. January 1997 (has links)
No description available.
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92 |
On computational strategies for regulatory element and regulatory polymorphism detectionMontgomery, Stephen 11 1900 (has links)
Identification of the mechanisms by which genes are regulated in eukaryotes is one of the principal challenges of modern biology. The emergence of genome sequencing has facilitated the marked expansion of experimental and computational approaches designed to address this challenge. Integrating and assessing this information remains a major scientific endeavor that requires new and innovative application of technology. Furthermore, our limited understanding of the mechanisms of gene regulation in eukaryotes has undermined our ability to understand the role of genetics in gene regulation. Regulatory variants are thought to be responsible for a considerable amount of the heterogeneity within our population and to be fundamental determinants of health. New experimental approaches offer the opportunity to effectively identify markers of disease susceptibility in gene regulatory regions but the discovery of the molecular mechanism of dysregulation remains difficult and time-consuming. It is here where computational approaches are required to prioritize candidate regulatory variants. To do so requires the development of an extensive control set from which characteristic signals can be identified.
This thesis introduces novel approaches for discovering, utilizing, comparing and visualizing regulatory element predictions in completed genomes. This thesis also introduces novel bioinformatics infrastructure for curating regulatory element and variant datasets, and introduces the largest-available, open-access dataset of functional regulatory variants hand-curated from literature. This dataset is used to identify signals which discriminate functional variants from other variants in the promoter regions of human genes using regulatory and population genetics-based computational approaches.
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93 |
On computational strategies for regulatory element and regulatory polymorphism detectionMontgomery, Stephen 11 1900 (has links)
Identification of the mechanisms by which genes are regulated in eukaryotes is one of the principal challenges of modern biology. The emergence of genome sequencing has facilitated the marked expansion of experimental and computational approaches designed to address this challenge. Integrating and assessing this information remains a major scientific endeavor that requires new and innovative application of technology. Furthermore, our limited understanding of the mechanisms of gene regulation in eukaryotes has undermined our ability to understand the role of genetics in gene regulation. Regulatory variants are thought to be responsible for a considerable amount of the heterogeneity within our population and to be fundamental determinants of health. New experimental approaches offer the opportunity to effectively identify markers of disease susceptibility in gene regulatory regions but the discovery of the molecular mechanism of dysregulation remains difficult and time-consuming. It is here where computational approaches are required to prioritize candidate regulatory variants. To do so requires the development of an extensive control set from which characteristic signals can be identified.
This thesis introduces novel approaches for discovering, utilizing, comparing and visualizing regulatory element predictions in completed genomes. This thesis also introduces novel bioinformatics infrastructure for curating regulatory element and variant datasets, and introduces the largest-available, open-access dataset of functional regulatory variants hand-curated from literature. This dataset is used to identify signals which discriminate functional variants from other variants in the promoter regions of human genes using regulatory and population genetics-based computational approaches.
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94 |
CFTR POLYMORPHISMS OF HEALTHY INDIVIDUALS IN TWO CHINESE CITIES : CHANGCHUN AND NANJINGNARUSE, SATORU, ISHIGURO, HIROSHI, ZHANG, SU MIN, WEI, MU XIN, NAKAKUKI, MIYUKI, PING, ZHANG, SONG, YING, FUJIKI, KOTOYO, JIN, CHUN XIANG 08 1900 (has links)
No description available.
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95 |
Pathogenetic aspects of helicobacter pylori infection in gastric cancer a study on the role of inflammatory cytokine and gene methylation /Huang, Fung-yu. January 2009 (has links)
Thesis (Ph. D.)--University of Hong Kong, 2010. / Includes bibliographical references (leaves 181-207). Also available in print.
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96 |
Two statistical problems in human genetics : I. Detection of pedigree errors prior to genetic mapping studies. II. Identification of polymorphisms that explain a linkage result /Sun, Lei. January 2001 (has links)
Thesis (Ph. D.)--University of Chicago, Dept. of Statistics, August 2001. / Includes bibliographical references. Also available on the Internet.
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97 |
Genetic polymorphisms and epidemiology of breast cancer in Hong Kong ChineseChan, Sum-yin, Ann., 陳心妍. January 2006 (has links)
published_or_final_version / Medicine / Master / Master of Research in Medicine
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98 |
The role of estrogen receptor alpha & beta polymorphisms in osteoporosisLai, Ming-hei., 賴銘曦. January 2007 (has links)
published_or_final_version / Medicine / Master / Master of Research in Medicine
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99 |
Profiles of cytokines and inflammatory mediators: implications in periodontal assessmentLoo, Tjing Yung., 魯慶榮. January 2011 (has links)
published_or_final_version / Dentistry / Doctoral / Doctor of Philosophy
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100 |
The functional roles of the polymorphisms of a secretary candiate tumor suppressor, serum amyloid A1 (SAA1), in nasopharyngeal carcinoma(NPC)Yeung, Man-chung, 楊敏聰 January 2011 (has links)
published_or_final_version / Clinical Oncology / Master / Master of Philosophy
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