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

doi:10.1038/372635a0

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Back to search

Article

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

Nature - 15 Dec 1994

Zanaria E, Muscatelli F, Bardoni B, Strom T M, Guioli S, Guo W, Lalli E, Moser C, Walker A P, McCabe E R

Abstract excerpt

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...

Topics

Adrenal Insufficiency
Amino Acid Sequence
Animals
Base Sequence
Cell Nucleus
Chromosome Mapping
DAX-1 Orphan Nuclear Receptor
DNA, Complementary
DNA-Binding Proteins
Female
Gene Deletion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Gene Expression

Genetic Linkage

Humans

Male

Molecular Sequence Data

Mutation

Receptors, Cytoplasmic and Nuclear

Source

Open in PubMed

Identifiers

PMID: 7990953
DOI: 10.1038/372635a0

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7990953-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita.PMID 7990953Read ↗

The gene responsible for adrenal hypoplasia congenita, DAX-1, encodes a nuclear hormone receptor that defines a new class within the superfamily.Semantic proximity Read ↗

Congenital adrenal hypoplasia and DAX-1 gene mutations.Semantic proximity Read ↗

Genomic sequence of the DAX1 gene: an orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.Semantic proximity Read ↗

DAX1: Increasing complexity in the roles of this novel nuclear receptor.Semantic proximity Read ↗

DAX-1, an Unusual Orphan Receptor at the Crossroads of Steroidogenic Function and Sexual DifferentiationSemantic proximity Read ↗

Late-onset adrenal hypoplasia congenita caused by a novel mutation of the DAX-1 gene.Semantic proximity Read ↗

DAX-1, an "antitestis" gene.Semantic proximity Read ↗

DAX1 and X-linked adrenal hypoplasia congenita: clinical and molecular analysis in five patientsSemantic proximity Read ↗

Novel DAX1 mutations in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.Semantic proximity Read ↗

Clinical and Functional Effects of Mutations in the DAX-1 Gene in Patients with Adrenal Hypoplasia CongenitaSemantic proximity Read ↗

A new DAX-1 mutation in a family with a case of neonatal adrenal insufficiency and a sibling with adrenal hypoplasia and sudden death at 3 years of age.Semantic proximity Read ↗

Hypogonadotropic hypogonadism in subjects with DAX1 mutations.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.