Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia
Author:
Publisher
Proceedings of the National Academy of Sciences
Subject
Multidisciplinary
Reference53 articles.
1. X–linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein
2. Clinical aspects of X-linked hypohidrotic ectodermal dysplasia.
3. The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains
4. Cloning of Tabby, the murine homolog of the human EDA gene: evidence for a membrane-associated protein with a short collagenous domain
5. Identification of a New Splice Form of the EDA1 Gene Permits Detection of Nearly All X-Linked Hypohidrotic Ectodermal Dysplasia Mutations
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1. Targeting furin, a cellular proprotein convertase, for COVID-19 prevention and therapeutics;Drug Discovery Today;2024-07
2. A missense mutation in the highly conserved TNF-like domain of Ectodysplasin A is the candidate causative variant for X-linked hypohidrotic ectodermal dysplasia in Limousin cattle: Clinical, histological, and molecular analyses;PLOS ONE;2024-01-22
3. Molecular basis and genetics of hypohidrotic ectodermal dysplasias;Vavilov Journal of Genetics and Breeding;2023-11-02
4. Furin extracellularly cleaves secreted PTENα/β to generate C-terminal fragment with a tumor-suppressive role;Cell Death & Disease;2022-06-06
5. Evidence of Selection in the Ectodysplasin Pathway among Endangered Aquatic Mammals;Integrative Organismal Biology;2022
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