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An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita.

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

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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

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