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Genetic Phenomena Commons™

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Full-Text Articles in Genetic Phenomena

Impact Of Human Immunoglobulin Genetic Variants On The Expressed Antibody Repertoire., Eric Engelbrecht Dec 2024

Impact Of Human Immunoglobulin Genetic Variants On The Expressed Antibody Repertoire., Eric Engelbrecht

Electronic Theses and Dissertations

B cells produce immunoglobulins (IGs; antibodies), which are critical protein components of the immune system. Human IGs are composed of two pairs of identical ‘heavy’ chains and ‘light’ kappa or lambda chains, encoded by genes located at three loci in the genome: the IG heavy chain locus (IGH, chromosome 14), and the IG lambda (IGL, chromosome 22) and kappa (IGK, chromosome 2) loci. Each locus spans ~920-100 kilobase pairs (Kbp) of DNA and harbors families of gene segments that are somatically rearranged during B cell development. The IG loci collectively harbor >180 functional genes, many of which are part of …


Autoimmunity And The Epigenome, Jeffrey S. Miller Jr Nov 2024

Autoimmunity And The Epigenome, Jeffrey S. Miller Jr

The Cardinal Edge

No abstract provided.


Characterization Of Adiposity And Inflammation Genetic Pleiotropy Underlying Cardiovascular Risk Factors In Hispanics., Mohammad Yaser (Anwar) Dec 2020

Characterization Of Adiposity And Inflammation Genetic Pleiotropy Underlying Cardiovascular Risk Factors In Hispanics., Mohammad Yaser (Anwar)

Electronic Theses and Dissertations

The observed overlap between genetic variants associated with both adiposity and inflammatory markers suggests that changes in both adiposity and inflammation could be partially mediated by common pathways. The pervasive but sparsely characterized “pleiotropic” genetic variants associated with both adiposity and inflammation have been hypothesized to provide insight into the shared biology. This study explored and characterized the genetic pleiotropy underpinning adiposity and inflammation using genetic and phenotypic observations from the Cameron County Hispanic Cohort (CCHC). A total of 3,313 samples and >9 million single nucleotide polymorphisms (SNPs) were examined in this study. Mixed model genome-wide association studies (GWAS) were …


Deciphering The Role Of Human Arylamine N-Acetyltransferase 1 (Nat1) In Breast Cancer Cell Metabolism Using A Systems Biology Approach., Samantha Marie Carlisle Aug 2018

Deciphering The Role Of Human Arylamine N-Acetyltransferase 1 (Nat1) In Breast Cancer Cell Metabolism Using A Systems Biology Approach., Samantha Marie Carlisle

Electronic Theses and Dissertations

Background: Human arylamine N-acetyltransferase 1 (NAT1) is a phase II xenobiotic metabolizing enzyme found in almost all tissues. NAT1 can additionally hydrolyze acetyl-coenzyme A (acetyl-CoA) in the absence of an arylamine substrate. NAT1 expression varies inter-individually and is elevated in several cancers including estrogen receptor positive (ER+) breast cancers. Additionally, multiple studies have shown the knockdown of NAT1, by both small molecule inhibition and siRNA methods, in breast cancer cells leads to decreased invasive ability and proliferation and decreased anchorage-independent colony formation. However, the exact mechanism by which NAT1 expression affects cancer risk and progression remains unclear. Additionally, consequences …