Project description:To investigate the dependence of amelogenesis imperfecta-related gene expression and ameloblast-related gene expression on Aire in the thymus, mTEChi from Aire+/+ and Aire-/- were sorted and subjected to bulk RNAseq.
2023-09-21 | GSE224247 | GEO
Project description:WES of amelogenesis imperfecta family
Project description:Truncation mutations in family with sequence similarity, member H (FAM83H) gene cause autosomal dominant hypocalcified amelogenesis imperfecta (ADHCAI). The aim of this study was to explore the effects of truncated FAM83H on enamel development. High throughput RNA-sequencing was used to detect the dysregulated signaling pathways in Fam83h-mutated LS8 cells. According to mRNA-sequencing, pathway related to cell adhesion was the most notably clustered in Fam83h-mutated cells. Immunofluorescence analysis further revealed decreased protein expression of desmoglein 3, a component of desmosomes, in Fam83h-mutated cells.
Project description:Purpose: There are three goals of this study: 1. To compare the genomic, exome and chromatin accessiblity profiles of the specific engineered fallopian tube cells of high-grade serous tubo-ovarian cancer (HGSC) models (this study) using whole-exome, whole-genome and ATAC-seq sequencing. Methods: For whole-exome analysis, genomic DNA was extracted from the cell lines mentioned below. Conclusions: We conclude that whole-exome, whole-genome and ATAC-seq characterization would expedite genetic network analyses and permit the dissection of complex biological functions.
Project description:Agilent whole exome hybridisation capture was performed on genomic DNA derived from Chondrosarcoma cancer and matched normal DNA from the same patients. Next Generation sequencing performed on the resulting exome libraries and mapped to build 37 of the human reference genome to facilitate the identification of novel cancer genes. Now we aim to re find and validate the findings of those exome libraries using bespoke pulldown methods and sequencing the products.
