[HTML][HTML] Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member …
P Schneider, SL Street, O Gaide, S Hertig… - Journal of Biological …, 2001 - ASBMB
Mutations in the epithelial morphogen ectodysplasin-A (EDA), a member of the tumor
necrosis factor (TNF) family, are responsible for the human disorder X-linked hypohidrotic
ectodermal dysplasia (XLHED) characterized by impaired development of hair, eccrine
sweat glands, and teeth. EDA-A1 and EDA-A2 are two splice variants of EDA, which bind
distinct EDA-A1 and X-linked EDA-A2 receptors. We identified a series of novel EDA
mutations in families with XLHED, allowing the identification of the following three …
necrosis factor (TNF) family, are responsible for the human disorder X-linked hypohidrotic
ectodermal dysplasia (XLHED) characterized by impaired development of hair, eccrine
sweat glands, and teeth. EDA-A1 and EDA-A2 are two splice variants of EDA, which bind
distinct EDA-A1 and X-linked EDA-A2 receptors. We identified a series of novel EDA
mutations in families with XLHED, allowing the identification of the following three …