Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 11 of 11 for “"intermediate phenotype"”.
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Fear Conditioning as an Intermediate Phenotype: An RDoC Inspired Methodological Analysis
… be uniquely suited for examining fear learning phenotypes. However, just three extant studies have applied GMM to fear learning and only one did so in a human population. Thus, the degree to which classes identified in known studies represent characteristics of the general population and to …
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Human Genetics, Psychotropic Drugs, and Acts of Violence
… medication is prescribed.</p> <p>• An intermediate phenotype for CYP3A4.</p> <p>• Fluctuating levels of psychoactive medication in the blood.</p> <p>The guidelines set by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and the Dutch Pharmacogenetics Working Group (DPWG) …
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Monocyte adherence to fibronectin: role of CD11/CD18 integrins and relationship to other monocyte functions
… monocytes had an "inflammatory effector" phenotype, non-adherent cells had an "immune modulatory" phenotype and monocytes that could stimulated to adhere by LPS (LPS-adherent cells) had an intermediate phenotype. In addition, only the adherent monocyte subpopulations were replete with HLE …
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Common genetic variation and spliceosome variants in rare developmental disorders
… individual disorders which could be used as an intermediate phenotype to help determine whether a VUS is pathogenic or benign. For disorders which are due to mutations in spliceosomal components, global patterns of splicing changes may be a useful biomarker. The research presented falls into …
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INDUCED PLURIPOTENT STEM CELL DERIVED LIVER MODEL FOR THE STUDY OF PNPLA3-ASSOCIATED NON-ALCOHOLIC FATTY LIVER DISEASE
… saturated free fatty acids to induce NAFLD-like phenotypes (lipid accumulation and lipid toxicity, respectively) and characterized by various functional, genomic, and lipidomic assays. The genetically edited sublines showed similar differentiation efficiency toward hepatocytes as untargeted cells …
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Transcriptional divergence during cichlid embryogenesis
… research has largely focused on diverging phenotypes of adults despite many of these variable traits likely being established during early embryogenesis. A central question that remains is how variation is generated during development. Moreover, cichlids are shown to have very low average …
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Inter-individual variation within social groups: how metabolic rate shapes the pace of life
… interindividual variation in terms of slow–fast phenotypes may drive the phenotype of a group and the functional role metabolic rate might play in shaping division of labor and social evolution. Building on this work, we leveraged the well-characterized differences in MR associated with 'F' …
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Microarray and molecular genetic analysis of aberrant splicing in human drug metabolizing cytochromes P450 CYP2D6 and CYP2B6
… a variant lacking exon 6, what explains the intermediate phenotype within allele *41. The splicing platform verified this splicing aberration in allele *41. Using the microarry specific splicing patterns were monitored in human liver tissue within the most common alleles of CYP2D6 *1, *2, *4 …
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Transcriptome-wide association analysis of survival in colorectal cancer patients
… study in the discovery and 380 samples of the Intermediate Phenotype Study (INTERMPHEN) study in the validation dataset). Body mass index (BMI) and sex are well known risk factors for colorectal cancer and so particular focus was paid to the relationship between these factors and differential …
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Population biology of Cryphonectria parasitica infected with Cryphonectria hypovirus 1 on American chestnut trees
… hypovirus 1 (CHV1), and have a white phenotype when grown in culture. Transmission of CHV1 in C. parasitica is limited by incompatibility between isolates in different vegetative compatibility (vc) types. In 1982-83, naturally formed blight cankers on American chestnut grafts, derived …
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Studies of aldosterone renin ratio and genetic variation at the CYP11B1/CYP11B2 locus in human essential hypertension
… (SNPs), are associated with more common intermediate phenotypes of essential hypertension such as the aldosterone to renin ratio (ARR). Up to 15 % of hypertensive patients may have an altered aldosterone biosynthesis as indicated by an elevated ARR. However, many studies using the ARR …