Publications by authors named "Gara Samara Brajadenta"
Background: Apert syndrome, Online Mendelian Inheritance in Man number 101200, is a rare genetic condition, with autosomal dominant inheritance, characterized by craniosynostosis, midfacial malformation, and severe symmetrical syndactyly. Apert syndrome is associated with other systemic malformations, including intellectual disability. At least seven mutations in fibroblast growth factor receptor 2 (FGFR2) gene have been found to cause Apert syndrome.
View Article and Find Full Text PDFArticle Synopsis
- CHARGE syndrome is a rare genetic disorder linked to mutations in the CHD7 gene, leading to various congenital abnormalities.
- The study aimed to create a biological test for CHD7 protein to understand how specific genetic variants affect its function.
- Results showed that while the wild-type CHD7 effectively downregulated certain genes, the variants did not have the same effect, indicating they are nonfunctional and contribute to the disease.