Mutations Leading to X-linked Hypohidrotic Ectodermal Dysplasia Affect Three Major Functional Domains in the Tumor Necrosis Factor Family Member Ectodysplasin-A
Open Access
- 1 June 2001
- journal article
- Published by Elsevier in Journal of Biological Chemistry
- Vol. 276 (22) , 18819-18827
- https://doi.org/10.1074/jbc.m101280200
Abstract
No abstract availableKeywords
This publication has 30 references indexed in Scilit:
- Two-Amino Acid Molecular Switch in an Epithelial Morphogen That Regulates Binding to Two Distinct ReceptorsScience, 2000
- High-Speed Digital MicroscopyMethods, 2000
- A Novel Arginine→Serine Mutation in EDA1 in a Japanese Family with X-Linked Anhidrotic Ectodermal DysplasiaJournal of Investigative Dermatology, 2000
- TROY, a Newly Identified Member of the Tumor Necrosis Factor Receptor Superfamily, Exhibits a Homology with Edar and Is Expressed in Embryonic Skin and Hair FolliclesJournal of Biological Chemistry, 2000
- X-Linked Anhidrotic (Hypohidrotic) Ectodermal Dysplasia Caused by a Novel Mutation in EDA1 Gene: 406T>G (Leu55Arg)Journal of Investigative Dermatology, 1999
- A Novel Point Mutation of the EDA Gene in a Japanese Family with Anhidrotic Ectodermal DysplasiaJournal of Investigative Dermatology, 1998
- C1q—how many functions? How many receptors?Trends in Cell Biology, 1998
- Identification of a New Splice Form of the EDA1 Gene Permits Detection of Nearly All X-Linked Hypohidrotic Ectodermal Dysplasia MutationsAmerican Journal of Human Genetics, 1998
- Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications.Journal of Medical Genetics, 1998
- X–linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane proteinNature Genetics, 1996