- Abstract:
- X-linked adrenal hypoplasia congenita is a developmental disorder of the human adrenal gland that results in profound hormonal deficiencies and is lethal if untreated. We have isolated the gene responsible for the disease, DAX-1, which is deleted or mutated in X-linked adrenal hypoplasia patients. DAX-1 encodes a new member of the nuclear hormone receptor superfamily displaying a novel DNA-binding domain. The DAX-1 product acts as a dominant negative regulator of transcription mediated by the retinoic acid receptor.
- Publication status:
- Published
- Publisher copy:
- 10.1038/372635a0
-
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- Journal:
- Nature
- Volume:
- 372
- Issue:
- 6507
- Pages:
- 635-641
- Publication date:
- 1994-12-05
- DOI:
- EISSN:
-
1476-4687
- ISSN:
-
0028-0836
- URN:
-
uuid:a951ace1-d4cd-49fa-a3ae-416f798915f8
- Source identifiers:
-
44635
- Local pid:
- pubs:44635
- Language:
- English
- Keywords:
- Copyright date:
- 1994
Journal article
An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita.
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