Index Catalog // Arch : Northwestern University Institutional Repository

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:: 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:: 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:: 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:: 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

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