The role of mediator complex subunit 12 (MED12) in the murine reproductive tract
Mittal, Priya (2016). Doctoral Dissertation, University of Pittsburgh. View full Dissertation
|Uterine leiomyomas are benign neoplasms arising from smooth muscle cells of the uterus. To elucidate the role of MED12 exon 2 variants in leiomyomagenesis, we generated three different mouse models of Med12; loss-of-function, dominant-negative and gain-of-function mouse models. This data suggests that Med12 exon 2 mutations are precursors to genomic rearrangements leading to an unstable genome.
Molecular mechanisms of LTBP4-related cutis laxa
Su, Chi-Ting (2014). Doctoral Dissertation, University of Pittsburgh. View full Dissertation
|This work focused on investigating the biomechanical consequences of and molecular disease mechanisms leading to cutis laxa (CL), a rare inherited disorder characterized by loose skin and frequently associated with systemic involvement, including aortic aneurysms, pulmonary artery disease, and emphysema. To study molecular disease mechanisms in CL, control and LTBP4-mutant human dermal fibroblasts were used to investigate TGFβ activity and signaling.
A Haplotype-Based Permutation Approach in Gene-Based Testing
Brand, Harrison (2013). Doctoral Dissertation, University of Pittsburgh. View full Dissertation
|Genome Wide Association Studies (GWAS) are a valuable tool for identifying genetic variants associated with disease. This study employed a haplotype block analysis within gene boundaries for a newly developed gene-based GWAS method, “GeneBlock”. GeneBlock was compared in a power analysis with two previously published permutation algorithms and a simulation method. All methods were tested in an Alzheimer Disease GWAS.