Publications by authors named "N Cesarato"
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.
Atrichia with papular lesions (APL) is a hair abnormality characterized by loss of hair on the scalp and rest of the body. In a few cases, hair loss is accompanied by the appearance of keratotic papules on the body. It is inherited in an autosomal recessive manner.
View Article and Find Full Text PDFBackground: Short anagen hair (SAH) is a rare paediatric hair disorder characterized by a short anagen phase, an inability to grow long scalp hair and a negative psychological impact. The genetic basis of SAH is currently unknown.
Objectives: To perform molecular genetic investigations in 48 individuals with a clinical phenotype suggestive of SAH to identify, if any, the genetic basis of this condition.