ArticleAmerican journal of human genetics1998
DAX1 mutations map to putative structural domains in a deduced three-dimensional model.
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed.
- Detection of protein structural hotspots using AI distillation and explainability: application to the DAX-1 protein.NAR genomics and bioinformatics · 2025Article
- Identification and Analysis of a Novel NR0B1 Mutation in Late-Onset Adrenal Hypoplasia Congenita and Hypogonadism.Journal of the Endocrine Society · 2021Article
- Novel frameshift mutation of the NR0B1(DAX1) in two tall adult brothers.Molecular biology reports · 2019Article
- Hyponatremic Seizures and Adrenal Hypoplasia Congenita in a Neonate with Congenital Diaphragmatic Hernia.Case reports in pediatrics · 2019Article
- DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease.Best practice & research. Clinical endocrinology & metabolism · 2015Review
- Hypogonadotropic hypogonadism in subjects with DAX1 mutations.Molecular and cellular endocrinology · 2011Review
- Orphan nuclear receptors as targets for drug development.Pharmaceutical research · 2010Review
- Late-onset adrenal hypoplasia congenita caused by a novel mutation of the DAX-1 gene.European journal of pediatrics · 2009Article
- Developmental expression of DAX1 in the European sea bass, Dicentrarchus labrax: lack of evidence for sexual dimorphism during sex differentiation.Reproductive biology and endocrinology : RB&E · 2007Article
- A novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenita.Hormone research · 2007Article
- X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism: report on new mutation of the DAX-1 gene in two siblings.Journal of endocrinological investigation · 2006Article
- Heat shock affects trafficking of DAX-1 by inducing its rapid and reversible cytoplasmic localization.Endocrine · 2005Article
- Battle of the sexes: new insights into genetic pathways of gonadal development.Transactions of the American Clinical and Climatological Association · 2003Review
- X-linked adrenal hypoplasia congenita is caused by abnormal nuclear localization of the DAX-1 protein.Proceedings of the National Academy of Sciences of the United States of America · 2002Article
- Human gene mutations causing infertility.Journal of medical genetics · 2002Review
- Haploinsufficiency of steroidogenic factor-1 in mice disrupts adrenal development leading to an impaired stress response.Proceedings of the National Academy of Sciences of the United States of America · 2000Article
- Genetics of hypogonadotropic hypogonadism.Journal of endocrinological investigation · 2000Review
- Orphan receptor DAX-1 is a shuttling RNA binding protein associated with polyribosomes via mRNA.Molecular and cellular biology · 2000Article
- A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism.The Journal of clinical investigation · 2000Article
- The orphan nuclear receptor SHP inhibits hepatocyte nuclear factor 4 and retinoid X receptor transactivation: two mechanisms for repression.Molecular and cellular biology · 2000Article
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Authors and funding
24 authors.
Funding
Abstract
The DAX1 protein is an orphan nuclear hormone receptor based on sequence similarity in the putative ligand-binding domain (LBD). DAX1 mutations result in X-linked adrenal hypoplasia congenita (AHC). Our objective was to identify DAX1 mutations in a series of families, to determine the types of mutations resulting in AHC and to locate single-amino-acid changes in a DAX1 structural model. The 14 new mutations identified among our 17 families with AHC brought the total number of families with AHC to 48 and the number of reported mutations to 42; 1 family showed gonadal mosaicism. These mutations included 23 frameshift, 12 nonsense, and six missense mutations and one single-codon deletion. We mapped the seven single-amino-acid changes to a homology model constructed by use of the three-dimensional crystal structures of the thyroid-hormone receptor and retinoid X receptor alpha. All single-amino-acid changes mapped to the C-terminal half of the DAX1 protein, in the conserved hydrophobic core of the putative LBD, and none affected residues expected to interact directly with a ligand. We conclude that most genetic alterations in DAX1 are frameshift or nonsense mutations and speculate that the codon deletion and missense mutations give insight into the structure and function of DAX1.
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