Article
Current Strategies for the Gene Therapy of Autosomal Recessive Congenital Ichthyosis and Other Types of Inherited Ichthyosis.
International journal of molecular sciences - 24 Feb 2022
Chulpanova Daria S, Shaimardanova Alisa A, Ponomarev Aleksei S, Elsheikh Somaia, Rizvanov Albert A, Solovyeva Valeriya V
Abstract excerpt
Mutations in genes such as transglutaminase-1 (TGM1), which are responsible for the formation and normal functioning of a lipid barrier, lead to the development of autosomal recessive congenital ichthyosis (ARCI). ARCIs are characterized by varying degrees of hyperkeratosis and the presence of scales on the body surface since birth. The quality of life of patients is often significantly affected, and in order to...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.