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Article

Truncation at the C-terminus of the DAX-1 protein impairs its biological actions in patients with X-linked adrenal hypoplasia congenita.

The Journal of clinical endocrinology and metabolism - 1 Oct 1996

Nakae J, Tajima T, Kusuda S, Kohda N, Okabe T, Shinohara N, Kato M, Murashita M, Mukai T, Imanaka K, Fujieda K

Abstract excerpt

The DAX-1 [DSS (dosage-sensitive sex)-AHC critical region in the X, gene 1] gene has been reported to be responsible for X-linked adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism. However, the function and structure of the DAX-1 protein have not been characterized. In this study, molecular analysis of the DAX-1 gene from 6 patients with AHC, including 2 siblings, identified 5 novel mutations...

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Identifiers

PMID: 8855822
DOI: 10.1210/jcem.81.10.8855822

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Truncation at the C-terminus of the DAX-1 protein impairs its biological actions in patients with X-linked adrenal hypoplasia congenita.PMID 8855822Read ↗

Three novel mutations and a de novo deletion mutation of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita.Semantic proximity Read ↗

Delayed-onset adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by a novel mutation in DAX1.Semantic proximity Read ↗

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

Missense Mutations Cluster within the Carboxyl-Terminal Region of DAX-1 and Impair Transcriptional Repression<sup>1</sup>Semantic proximity Read ↗

An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita.Semantic proximity Read ↗

Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita.Semantic proximity Read ↗

Clinical and molecular genetic analysis of a Chinese family with congenital X-linked adrenal hypoplasia caused by novel mutation 1268delA in the DAX-1 gene.Semantic proximity Read ↗

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Seven novel DAX1 mutations with loss of function identified in Chinese patients with congenital adrenal hypoplasia.Semantic proximity Read ↗

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

Identification of novel mutations of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita.Semantic proximity Read ↗

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