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- Description:
- Phenotypic variation is the functional unit that evolution acts upon and is the main contributor to the diversity of species. The phenotype of an individual is shaped by genetic and environmental factors. These genetic and environmental factors contribute to biomedically relevant traits such as an individual’s susceptibility to disease and...
- Keyword:
- genetic diversity, arsenic, QTL, albendazole, etoposide, and C. elegans
- Subject:
- Biology and Genetics
- Creator:
- Zdraljevic, Stefan
- Owner:
- Scholarly Digital Publishing
- Language:
- en
- Date Uploaded:
- 02/12/2020
- Date Created:
- 2019-01-01
- Resource Type:
- Dissertation
- Alternate Identifier:
- etdadmin_upload_683728 and http://dissertations.umi.com/northwestern:14790
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- Description:
- The epidemic of obesity and associated metabolic diseases have led to increased scrutiny of adipose tissue and its primary cell type, the adipocyte. However, studies show that regional adipose tissue distribution rather than obesity per se is a major determinant of metabolic disease risk. Despite having an obese body mass...
- Keyword:
- Lipogenesis, Insulin Sensitivity, Hypertrophy, Obesity, BCL6, and Adipocyte
- Subject:
- Biology, Endocrinology, and Genetics
- Creator:
- Senagolage, Madhavi Dushyanthi
- Owner:
- Scholarly Digital Publishing
- Language:
- en
- Date Uploaded:
- 02/12/2020
- Date Created:
- 2019-01-01
- Resource Type:
- Dissertation
- Alternate Identifier:
- http://dissertations.umi.com/northwestern:14575 and etdadmin_upload_658480
-
- Description:
- The blueprint of life is contained within the sequence of an organism’s genome. While virtually all cells of an individual multicellular eukaryotic organism contain a near identical code of nucleic acid sequences, an organism must give rise to and maintain a varied set of cells and phenotypes. As such, sequence...
- Keyword:
- Genome, Epidermal Differentiation, Nuclear Organization, and Transcription
- Subject:
- Molecular biology, Genetics, and Cellular biology
- Creator:
- Garza-Gongora, Arturo
- Owner:
- Scholarly Digital Publishing
- Language:
- en
- Date Uploaded:
- 02/12/2020
- Date Created:
- 2018-01-01
- Resource Type:
- Dissertation
- Alternate Identifier:
- etdadmin_upload_617313 and http://dissertations.umi.com/northwestern:14401
-
- Description:
- Neisseria gonorrhoeae (Ng), a strict human pathogen, is the sole causative agent of gonorrhea. Gc possess a complex gene conversion system, the pilin antigenic variation system, (pilin Av), which alters the DNA sequence of the major pilin, PilE. Pilin Av results in the constant alteration of the surface exposed appendage,...
- Keyword:
- DNA recombination, Antigenic variation, and Guanine Quadruplex
- Subject:
- Microbiology and Genetics
- Creator:
- Prister, Lauren Leigh
- Owner:
- Scholarly Digital Publishing
- Language:
- en
- Date Uploaded:
- 02/12/2020
- Date Created:
- 2019-01-01
- Resource Type:
- Dissertation
- Alternate Identifier:
- etdadmin_upload_684526 and http://dissertations.umi.com/northwestern:14798
-
- Description:
- Polycystic ovary syndrome (PCOS) is among the most common endocrine disorders of premenopausal women, affecting 5-15% of this population depending on the diagnostic criteria applied. It is characterized by hyperandrogenism, ovulatory dysfunction and polycystic ovarian morphology. PCOS is highly heritable, but only a small proportion of this heritability can be...
- Keyword:
- complex trait genetics, rare variants, DENND1A, PCOS, and sub-phenotyping
- Subject:
- Bioinformatics, Genetics, and Endocrinology
- Creator:
- Dapas, Matthew
- Owner:
- Scholarly Digital Publishing
- Language:
- en
- Date Uploaded:
- 02/12/2020
- Date Created:
- 2019-01-01
- Resource Type:
- Dissertation
- Alternate Identifier:
- http://dissertations.umi.com/northwestern:14662 and etdadmin_upload_662808
-
- Description:
- Understanding the complex genome-phenome associations behind human complex traits will be a primary focus for the practice of precision medicine in the future. Identifying the genetic variants that contribute to the inter- and intra- phenotypic variations of individuals, elucidating pleiotropic architecture of common complex traits, and demonstrating how personal biomedical...
- Keyword:
- Electronic Health Records, Genome-wide association studies, Bioinformatics, Biomedical Informatics, Precision medicine, and Phenome-wide association studies
- Subject:
- Bioinformatics, Genetics, and Medicine
- Creator:
- Joo, Yoonjung Yoonie
- Owner:
- Scholarly Digital Publishing
- Language:
- en
- Date Uploaded:
- 04/28/2020
- Date Created:
- 2019-01-01
- Resource Type:
- Dissertation
- Alternate Identifier:
- etdadmin_upload_719309 and http://dissertations.umi.com/northwestern:15009
-
- Description:
- Over 6 million adults in the United States have heart failure, a serious public health problem. Differences in the progression of heart failure are in part due to variability in sex, age, and genetic variation background including ancestry. Medical biobanks provide a resource to study this variability as they include...
- Subject:
- Bioinformatics and Genetics
- Creator:
- Pottinger, Tess D
- Owner:
- Scholarly Digital Publishing
- Language:
- en
- Date Uploaded:
- 01/21/2021
- Date Created:
- 2020-01-01
- Resource Type:
- Dissertation
- Alternate Identifier:
- etdadmin_upload_742461 and http://dissertations.umi.com/northwestern:15091
-
- Description:
- Phenotypic diversity underlies life as we know it–a variety of species, each with different roles, are essential for a fully functioning ecosystem just as a range of different crops is necessary to provide different nutritional value. Even within a single species, individual variation promotes diversity, allowing for adaptation to new...
- Subject:
- Genetics
- Creator:
- Evans, Kathryn Suzanne
- Owner:
- Scholarly Digital Publishing
- Language:
- en
- Date Uploaded:
- 02/01/2021
- Date Created:
- 2020-01-01
- Resource Type:
- Dissertation
- Alternate Identifier:
- etdadmin_upload_772896 and http://dissertations.umi.com/northwestern:15342
-
- Description:
- Current genetic studies are largely biased towards European populations, leaving the discovery of genomics biomarkers and causative genetic variants unexplored in minority populations, such as African Americans. Meanwhile, African Americans are disproportionately affected by a variety of complex diseases and respond differently to many drug treatments. The disparity is due...
- Keyword:
- gene expression, pharmacogenomics, African American, and eQTL mapping
- Subject:
- Bioinformatics and Genetics
- Creator:
- Zhong, Yizhen
- Owner:
- Scholarly Digital Publishing
- Language:
- en
- Date Uploaded:
- 02/01/2021
- Date Created:
- 2020-01-01
- Resource Type:
- Dissertation
- Alternate Identifier:
- http://dissertations.umi.com/northwestern:15303 and etdadmin_upload_765355
-
- Description:
- The protein homeostasis (proteostasis) network, a critical cytoprotective system that restores homeostasis in response to molecular stress, comprises distinct pathways, including the heat-shock response, unfolded protein response, oxidative stress response, and autophagy. These distinct pathways are all co-opted by tumor cells to cope with cancer-associated stress, and their activation in...
- Subject:
- Pharmacology, Genetics, and Biology
- Creator:
- Brockway, Sonia Susan
- Owner:
- Scholarly Digital Publishing
- Language:
- en
- Date Uploaded:
- 02/01/2021
- Date Created:
- 2020-01-01
- Resource Type:
- Dissertation
- Alternate Identifier:
- etdadmin_upload_780926 and http://dissertations.umi.com/northwestern:15412
-
- Description:
- Evolutionary theory predicts that reproduction entails energetic costs that detract from somatic maintenance, accelerating biological aging. In women, such ‘costs of reproduction’ (CoR) are thought to arise predominantly during pregnancy and lactation, while in men the physiological effects of the steroid hormone testosterone (T) are believed to be a major...
- Keyword:
- Epigenetic clocks, Tradeoffs, Disposable soma theory, Costs of reproduction, Aging, and DNA methylation
- Subject:
- Genetics, Evolution & development, and Biology
- Creator:
- Ryan, Calen Patrick
- Owner:
- Scholarly Digital Publishing
- Language:
- en
- Date Uploaded:
- 02/01/2021
- Date Created:
- 2020-01-01
- Resource Type:
- Dissertation
- Alternate Identifier:
- etdadmin_upload_780539 and http://dissertations.umi.com/northwestern:15395
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- Description:
- Heart failure due to genetic cardiomyopathy is associated with a range of phenotypic expression. The studies in this body of work interrogated the role of noncoding variation in modifying cardiomyopathy phenotypes. We used cap analysis of gene expression in heathy and failed left ventricles to define the regulatory environment of...
- Keyword:
- noncoding, genetics, MYH7, heart failure, modifier, and enhancer
- Subject:
- Molecular biology, Genetics, and Biochemistry
- Creator:
- Gacita, Anthony Martin
- Owner:
- Scholarly Digital Publishing
- Language:
- en
- Date Uploaded:
- 02/01/2021
- Date Created:
- 2020-01-01
- Resource Type:
- Dissertation
- Alternate Identifier:
- etdadmin_upload_756135 and http://dissertations.umi.com/northwestern:15193
-
- Description:
- Genetic factors such as loss of genetic diversity, mutations, and inbreeding depression can increase a populations chances of extinction, therefore it is important to understand how these factors can contribute to populations decline. Among the genetic factors that can contribute to populations extinction, inbreeding depression is the only one that...
- Keyword:
- Self-incompatibility, Inbreeding depression, Reproductive system , and Pollinators
- Subject:
- Conservation biology, Genetics, and Botany
- Creator:
- Cisternas Fuentes, Anita
- Owner:
- Scholarly Digital Publishing
- Language:
- en
- Date Uploaded:
- 04/15/2021
- Date Created:
- 2021-01-01
- Resource Type:
- Dissertation
- Alternate Identifier:
- etdadmin_upload_792611 and http://dissertations.umi.com/northwestern:15451
-
- Description:
- Mammalian transcriptional regulation is well-known to be complex and highly context dependent. Different genetic and epigenetic features, including single nucleotide polymorphisms (SNPs) that function as cis- or trans-expression quantitative trait loci (eQTLs), transcription factor (TF) interaction profile with cis-regulatory elements (CREs), methylation of CpG dinucleotide sequences, and histone modification that...
- Keyword:
- Bioinformatics, Transcriptomics, Gene regulation, Deep Learning, Machine Learning, and Drug discovery
- Subject:
- Bioinformatics, Genetics, and Oncology
- Creator:
- Ji, Yanrong
- Owner:
- Scholarly Digital Publishing
- Language:
- en
- Date Uploaded:
- 06/28/2021
- Date Created:
- 2021-01-01
- Resource Type:
- Dissertation
- Alternate Identifier:
- etdadmin_upload_818497 and http://dissertations.umi.com/northwestern:15562
-
- Description:
- Parasitic nematode infections are common in both humans and livestock populations around the globe. In humans, these infections cause illness which can be debilitating. In livestock, parasitic nematode infections result in poor animal health and wellbeing as well as decreases in the yield of these animals. The decrease in yield...
- Keyword:
- Parasites, Anthelmintics, beta-tubulin, and C. elegans
- Subject:
- Molecular biology and Genetics
- Creator:
- Dilks, Clayton Matthew
- Owner:
- Scholarly Digital Publishing
- Language:
- en
- Date Uploaded:
- 10/07/2021
- Date Created:
- 2021-01-01
- Resource Type:
- Dissertation
- Alternate Identifier:
- http://dissertations.umi.com/northwestern:15713 and etdadmin_upload_843341
-
- Description:
- In nearly all Eukaryotes, the membrane-enclosed nucleus contains the vast majority of the cellular genome. Within this sub-cellular compartment, the nuclear architecture facilitates genomic chromatin organization. Controlling chromosomal loci’s spatial positioning relative to subnuclear structures and each other can have local and global effects on gene expression. Moreover, chromatin organization...
- Keyword:
- Genome, Yeast, Statistics, Nucleus, Epigenetics, and Diffusion
- Subject:
- Molecular biology, Genetics, and Biophysics
- Creator:
- Sumner, Michael Chas
- Owner:
- Scholarly Digital Publishing
- Language:
- en
- Date Uploaded:
- 10/07/2021
- Date Created:
- 2021-01-01
- Resource Type:
- Dissertation
- Alternate Identifier:
- http://dissertations.umi.com/northwestern:15670 and etdadmin_upload_837750
-
- Description:
- The eukaryotic genome is packaged into chromatin. The nucleosome, the basic unit of chromatin, is composed of DNA coiled around a histone octamer. Histones are among the longest-lived protein species in mammalian cells, due to their thermodynamic stability and their associations with DNA and histone chaperones. Histone metabolism plays an...
- Keyword:
- UBR7, NASP, histone, H3, chaperone, and chromatin
- Subject:
- Biology, Biochemistry, and Genetics
- Creator:
- Ferguson, Ann
- Owner:
- Scholarly Digital Publishing
- Language:
- en
- Date Uploaded:
- 02/02/2022
- Date Created:
- 2021-01-01
- Resource Type:
- Dissertation
- Alternate Identifier:
- http://dissertations.umi.com/northwestern:15808 and etdadmin_upload_853746
-
- Description:
- Reproduction requires a complex orchestration of processes from the formation of the reproductive system through the successful development of the fetus, and nutrients are necessary to fuel these processes during many aspects of reproduction. Zinc is an essential metal that is fundamental in gamete maturation, gonadogenesis, and fertilization. Disruption in...
- Keyword:
- Ovulation, Labile zinc, Caenorhabditis elegans, Zinc transporters, Reproductive biology, and Live imaging
- Subject:
- Molecular biology, Genetics, and Cellular biology
- Creator:
- Sue, Aaron Christopher
- Owner:
- Scholarly Digital Publishing
- Language:
- en
- Date Uploaded:
- 06/22/2022
- Date Created:
- 2022-01-01
- Resource Type:
- Dissertation
- Alternate Identifier:
- etdadmin_upload_902758 and http://dissertations.umi.com/northwestern:16074
-
- Description:
- Body size is one of the most discernible ways in which animal species vary. The blue whale (Balaenoptera musculus), the largest animal on earth, can reach up to 30 m in length and weigh up to 200 tonnes. At the other extreme, a species of frog called Paedophryne amauensis is...
- Subject:
- Genetics and Developmental biology
- Creator:
- Nyaanga, Joy
- Owner:
- Scholarly Digital Publishing
- Language:
- en
- Date Uploaded:
- 06/22/2022
- Date Created:
- 2022-01-01
- Resource Type:
- Dissertation
- Alternate Identifier:
- http://dissertations.umi.com/northwestern:16113 and etdadmin_upload_904655
-
- Description:
- SCN2A encodes the NaV1.2 voltage-gated sodium channel, which is thought to contribute to the development of the central nervous system. Pathogenic variants in SCN2A have been associated with neurodevelopmental disorders (NDD), including developmental and epileptic encephalopathies (DEE), intellectual disability (ID), and autism spectrum disorder (ASD). These disorders represent a significant...
- Keyword:
- neurodevelopmental disorder, mouse model, SCN2A, ion selectivity, sex differences, and strain dependence
- Subject:
- Molecular biology, Genetics, and Neurosciences
- Creator:
- Echevarria-Cooper, Dennis Michael
- Owner:
- Scholarly Digital Publishing
- Language:
- en
- Date Uploaded:
- 05/31/2023
- Date Created:
- 2023-01-01
- Resource Type:
- Dissertation
- Alternate Identifier:
- etdadmin_upload_966256 and http://dissertations.umi.com/northwestern:16435
-
- Description:
- Heart failure is a growing clinical problem, and inherited cardiomyopathies contribute significantly to heart failure. Among the many genes associated with inherited cardiomyopathies, mutations in FLNC, the gene encoding the cytoskeletal protein filamin C, associate with a range of cardiomyopathy and increased risk for arrhythmia and sudden cardiac death in...
- Keyword:
- Stem Cell, Cardiovascular Genetics, Filamin C, Cardiomyopathy, Autophagy, and CRISPR
- Subject:
- Genetics
- Creator:
- Ohiri, Joyce Chimdinma
- Owner:
- Scholarly Digital Publishing
- Language:
- en
- Date Uploaded:
- 08/23/2023
- Date Created:
- 2023-01-01
- Resource Type:
- Dissertation
- Alternate Identifier:
- http://dissertations.umi.com/northwestern:16651 and etdadmin_upload_1000501