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Graphic Design | Ansley Lyons
Get PDFGraphic design entry for 2024 Student Symposiumhttps://digitalcommons.jsu.edu/ce_jsustudentsymp_2024/1067/thumbnail.jp
Graphic Design | Nicolas Gruimaraes Vieira
Get PDFGraphic design entry for 2024 Student Symposiumhttps://digitalcommons.jsu.edu/ce_jsustudentsymp_2024/1073/thumbnail.jp
Exploring the Potential Pathogenicity of a Type 2 Diabetes Mellitus Associated INSR Missense Variant of Uncertain Significance Through daf-2 in the Caenorhabditis elegans Model
Get PDFType 2 diabetes mellitus (T2DM) is hallmarked by insulin resistance, with the INSR gene identified as a key player in this condition in humans. This gene is known to harbor genetic variants with a wide range of clinical significance from pathogenic to variants of uncertain significance (VUS) to benign. This project investigates a VUS associated with T2DM identified through ClinVar. A gene mutational analysis, predictive amino acid substitution analysis, and protein modeling predict INSR c.1628C\u3eT (p. Thr543Met) to be likely pathogenic or damaging. PolyPhen-2 predicts this variant to be probably damaging (HumDiv score of 1.000).
Evolutionary conservation of the VUS loci across multiple species was confirmed through multiple sequence alignment carried out through Benchling. The VUS results in an amino acid class change from the polar, hydrophilic amino acid threonine to the nonpolar, hydrophobic amino acid methionine. Utilizing SWISS-MODEL, homology-based protein models were generated for both human native and VUS mutant INSR proteins. Subsequent analysis in PyMOL revealed an RMSD value of 0.001. The affected amino acid resides in the extracellular alpha subunit, which may contribute to its potential impact to protein structure and function. To understand the functional implications of this structural alteration, we plan to observe potential phenotypic differences between wildtype N2 C. elegans nematodes and a CRISPR-Cas9 engineered daf-2 VUS nematodes. This research aims to elucidate the functional impact of the INSR variant and provide valuable insight into its role in the context of insulin resistance and T2DM
Design Citizen First Insert (Cover)
No full textThe folded cover for the first insert included within the Design Citizen bookhttps://digitalcommons.jsu.edu/etds_mfa_images/1058/thumbnail.jp
Design Citizen First Insert (Unfolded)
No full textA flat view of the first insert included within the Design Citizen bookhttps://digitalcommons.jsu.edu/etds_mfa_images/1059/thumbnail.jp
Design Citizen Second Insert (Cover)
No full textThe folded cover for the second insert included within the Design Citizen bookhttps://digitalcommons.jsu.edu/etds_mfa_images/1060/thumbnail.jp
Design Citizen Fourth Insert (Front)
No full textA flat view of the front of the fourth insert included within the Design Citizen bookhttps://digitalcommons.jsu.edu/etds_mfa_images/1065/thumbnail.jp
Website, Screenshot 4
No full textWebsite containing information about the “Backpack” Method and System. The website also has a link to the “Backpack” system implemented in Notion, which students can download free of charge, and an animated tutorial on how to use the “Backpack” system in Notion. Website URL: https://albaconejero.com/https://digitalcommons.jsu.edu/etds_mfa_images/1087/thumbnail.jp
“Backpack” Method Exhibit | Wide View
No full textExhibition wide view.https://digitalcommons.jsu.edu/etds_mfa_images/1090/thumbnail.jp
“Backpack” Method Exhibit | Tutorial on TV Display
No full textAnimated tutorial on how to use the “Backpack” system implemented in Notion displayed on TV.https://digitalcommons.jsu.edu/etds_mfa_images/1094/thumbnail.jp