Publications by authors named "F Buket Basmanav"
Article Synopsis
- Monilethrix is a rare genetic hair disorder characterized by fragile hair with a beaded structure and potential keratosis pilaris or nail issues, linked to mutations in specific genes (KRT81, KRT83, KRT86 for dominant forms; DSG4 for recessive).
- This study aimed to uncover new genetic mutations in families with unexplained cases of autosomal-dominant monilethrix and to explore how these variants disrupt cell function.
- Through exome sequencing, researchers identified a significant mutation (c.1081G>T) in the KRT31 gene that affects keratin production, resulting in altered protein structure and function, confirmed through various laboratory techniques.
Gene overexpression by transient transfection of in vitro cultured model cell lines with plasmid DNA is a commonly used method for studying molecular aspects of human biology and pathobiology. However, there is accumulating evidence suggesting that human cells may actively secrete fragments of DNA and the implications of this phenomenon for in vitro cultured cells transiently transfected with foreign nucleic acids has been overlooked. Therefore, in the current study we investigated whether a cell-to-cell transmission of acquired plasmid DNA takes place in a commonly used human cell line model.
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