Browsing by Department "Human Genetics"
Now showing items 21-40 of 55
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(2011-03-31)Department: Human GeneticsLow-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), and triglyceride (TG) levels are well known independent risk factors for cardiovascular disease. Other lipoproteins, such as Lp(a), ...
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(2013-12-15)Department: Human GeneticsAutism Spectrum Disorder is a neurodevelopmental condition with evidence for genetic susceptibility. However, effect sizes for implicated loci are small, and current evidence does not explain the heritability. Phenotypic ...
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(2014-02-20)Department: Human GeneticsAlzheimer’s Disease is an irreversible, degenerative disease of the brain that accounts for a majority of dementia cases each year, in both the general population and in patients with Down Syndrome. The advancement of in ...
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(2006-11-01)Department: Human GeneticsBiological organisms are complex systems that dynamically integrate inputs from a multitude of physiological and environmental factors. Complex clinical outcomes arise from the concerted interactions among the myriad ...
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Integrative statistical approaches to gain biological insights from genome-wide association studies (2021-06-11)Department: Human GeneticsThis paper
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(2011-12-01)Department: Human GeneticsAbnormal regulation of mitochondrial deoxyribonucleoside triphosphate pools can lead to mitochondrial DNA depletion syndromes, a set of genetic diseases associated with depletion of mitochondrial DNA. Besides mitochondrial ...
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(2017-05-26)Department: Human GeneticsLung cancer is classified into two main types: small cell lung cancer (SCLC) and non-small cell lung cancer (NSCLC). NSCLC has several subtypes, but the two most commonly occurring subtypes are lung adenocarcinoma (LUAD) ...
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(2010-12-07)Department: Human GeneticsNeither genome size nor gene number is indicative of organism complexity. Complex regulation of genes within a genome likely contributes to organism complexity. Coordinate regulation of genes through shared cis regulatory ...
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Investigation of genetic susceptibility to late-onset Alzheimer disease through genomic convergence (2007-04-16)Department: Human GeneticsWith the exception of ApoE gene, no universally accepted genetic association has been identified with the complex Late-onset Alzheimer Disease (LOAD). A broad region of chromosome 10 has engendered continued interest ...
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(2015-03-23)Department: Human GeneticsCommon age, related eye diseases are a major driving force behind vision disability and blindness. The three most common diseases afflicting Americans today are age-related macular degeneration (AMD), primary open-angle ...
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(2008-02-05)Department: Human GeneticsSpontaneous preterm birth (PTB), gestational age less than 37 weeks, is a major public health problem worldwide. Almost 500,000 preterm births occur annually in the United States (U.S.), accounting for ~12% of deliveries. ...
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(2010-12-21)Department: Human GeneticsGrowing interest and burgeoning technology for discovering genetic mechanisms that influence disease processes have ushered in a flood of genetic association studies over the last decade, yet little heritability in highly ...
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(2017-04-04)Department: Human GeneticsThe genomics era has seen a staggering increase in the number of whole genome sequences. This has bolstered studies of human populations, and revealed regions of the genome bearing signatures of selection and other demographic ...
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(2022-03-29)Department: Human GeneticsIn this dissertation I demonstrate three projects that utilize biobanks to increase power and gain insight into the genetic architecture of complex psychiatric traits: 1) an international consortium GWAS of suicide attempt ...
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(2017-04-03)Department: Human GeneticsEpistasis is a phenomenon wherein the effect of a genetic variant on a phenotype is dependent on the genomic context. Better understanding epistastic relationships between variants, often termed interactions, can shed ...
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(2015-03-09)Department: Human GeneticsAge-related macular degeneration (AMD) is one of the most common causes of visual impairment in the United States (US). Although a multitude of studies have shown that both genetic and environmental factors contribute to ...
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Nitrogen Metabolism: Enzyme Expression and Protein Interactions in the Urea and Nitric Oxide Cycles (2010-04-12)Department: Human GeneticsThe urea cycle enzymes play an important role in the processing of nitrogen to urea and in producing endogenous nitric oxide by the citrulline-nitric oxide cycle. This project characterizes the expression of urea and nitric ...
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(2009-12-07)Department: Human GeneticsMultiple sclerosis (MS) is characterized as a neurodegenerative autoimmune disease. This clinically complex disease has provided great challenges for geneticists over the years. With the advent of genome-wide association ...
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(2014-04-16)Department: Human GeneticsAdverse drug reactions (ADRs) can be highly influenced by genetic variation. For example, immunosuppressants prescribed to patients who have undergone organ transplantation have severe nephrotoxic side effects. Pharmacogenetic ...
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(2020-07-24)Department: Human GeneticsSequencing DNA derived from ancient bones (‘aDNA’) enabled direct genetic comparison of anatomically modern humans (AMHs) and their ancestral populations, as well as archaic hominins like Neanderthals and Denisovans. From ...