Abstract：
:Ectodysplasin (Eda) is the most studied tumor necrosis ligand in the field of developmental biology. In all vertebrates studied so far, inactivating germline mutations in Eda lead to the genetic disease called hypohidrotic ectodermal dysplasia (HED). In humans, HED is a life-threatening condition in particular in infants due to absent or severely reduced sweating leading to hyperthermia. HED is also characterized by sparse hair, and oligo- or anodontia. Research of the Eda pathway has not only increased our knowledge on ectodermal appendage development and etiology of developmental disorders, but also on evolution of several vertebrate species including humankind. Studies on mouse and dog models of HED has led to one of the most stunning breakthroughs in applied developmental biology research by showing that a short-term treatment of neonates with a synthetic ligand corrects many of the HED-associated traits. Eighteen years after the identification of EDA as the causative gene in HED, a phase II trial aiming at permanent correction of the disease is now ongoing. This review summarizes the latest discoveries in the Eda field and points to areas that need further investigation such as the possible involvement of Eda in cell migration, stem cell maintenance, or cancer.
journal_name
Semin Immunoljournal_title
Seminars in immunologyauthors
Lefebvre S,Mikkola MLdoi
10.1016/j.smim.2014.05.002subject
Has Abstractpub_date
2014-06-01 00:00:00pages
220-8issue
3eissn
1044-5323issn
1096-3618pii
S1044-5323(14)00055-4journal_volume
26pub_type
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journal_title：Seminars in immunology
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journal_title：Seminars in immunology
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journal_title：Seminars in immunology
pub_type： 杂志文章,评审
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更新日期：1994-10-01 00:00:00
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pub_type： 杂志文章,评审
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pub_type： 杂志文章,评审
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更新日期：2008-02-01 00:00:00
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pub_type： 历史文章,杂志文章,评审
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journal_title：Seminars in immunology
pub_type： 杂志文章,评审
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更新日期：2016-10-01 00:00:00
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journal_title：Seminars in immunology
pub_type： 杂志文章,评审
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journal_title：Seminars in immunology
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journal_title：Seminars in immunology
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journal_title：Seminars in immunology
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journal_title：Seminars in immunology
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