Project description:Vohwinkel syndrome, VS (OMIM#124500), a rare autosomal dominant genetic disease, with less than 50 reported cases in the literature. Although clinical symptoms of VS are complex, which are caused by GJB2 mutation is more typical. To explore related differential genes and signaling pathways of Vohwinkel syndrome (VS) caused by mutations of GJB2. Human Gene Expression Array of the GJB2-VS mutated (G130V) HaCaT cell lines and identified distinct classes of up- and down- regulated genes during this process.
2023-09-30 | GSE200384 | GEO
Project description:Multiple Facial Nevoid Basal Cell Carcinoma Syndrome: A Genetic Testing and Literature Review in a Case Report
Project description:Vohwinkel syndrome, VS (OMIM#124500), a rare autosomal dominant genetic disease, with less than 50 reported cases in the literature. Although clinical symptoms of VS are complex, which are caused by GJB2 mutation is more typical. To explore related differential genes and signaling pathways of Vohwinkel syndrome (VS) caused by mutations of GJB2. Human Gene Expression Array of two types of GJB2-VS mutated (G130V and D66H) HaCaT cell lines and identified distinct classes of up- and down- regulated genes during this process.