An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita.
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Zanaria E, Muscatelli F, Bardoni B, Strom TM, Guioli S, Guo W, Lalli E, Moser C, Walker AP, McCabe ER, et al.
An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita.
Nature. 1994 Dec 15;372(6507):635-41.
- PubMed ID
- 7990953 [ View in PubMed]
- 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.