A novel FAM83G variant from palmoplantar keratoderma patient disrupts WNT signalling via loss of FAM83G-CK1α interaction

A novel FAM83G variant from palmoplantar keratoderma patient disrupts WNT signalling via loss of FAM83G-CK1α interaction

Palmoplantar keratoderma (PPK) is a multi-faceted skin disorder characterized by the thickening of the epidermis and abrasions on the palms and soles of the feet. Among the genetic causes, biallelic pathogenic variants in the FAM83G gene have been associated with PPK in dogs and humans. Here, a nove...

Full description

Bibliographic Details
Main Authors: Lorraine Glennie, Marta Codina Solà, Mar Xunclà, Gloria Aparicio Español, Elena Garcia-Arumí, Eduardo Fidel Tizzano, Nicola T. Wood, Thomas J. Macartney, Amaia Lasa-Aranzasti, Gopal P. Sapkota
Format: Article
Language:English
Published: The Royal Society 2024-07-01
Series:Open Biology
Subjects:
FAM83
palmoplantar keratoderma
hyperkeratosis
CK1
WNT
FAM83G
Online Access:https://royalsocietypublishing.org/doi/10.1098/rsob.240075

Internet

https://royalsocietypublishing.org/doi/10.1098/rsob.240075

Similar Items