Associated Papers
Detection of protein structural hotspots using AI distillation and explainability: application to the DAX-1 protein.
Dumas N et al.
Nar Genomics and Bioinformatics, 2025
Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita.
Zheng W et al.
Orphanet Journal of Rare Diseases, 2023
Late-onset X-linked adrenal hypoplasia (DAX-1, NR0B1): two new adult-onset cases from a single center.
Kyriakakis N et al.
Pituitary, 2017
Role of DAX-1 (NR0B1) and steroidogenic factor-1 (NR5A1) in human adrenal function.
El-Khairi R et al.
Endocrine Development, 2011
Seven novel DAX1 mutations with loss of function identified in Chinese patients with congenital adrenal hypoplasia.
Li N et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
Four Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by DAX-1 gene mutations: mutant DAX-1 failed to repress steroidogenic acute regulatory protein (StAR) and luteinizing hormone beta-subunit gene promoter activity.
Okuhara K et al.
Endocrine Journal, 2008
Disorders of adrenal development.
Ferraz-de-Souza B et al.
Endocrine Development, 2008
Genetic disorders involving adrenal development.
Lin L et al.
Endocrine Development, 2007
Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience.
Lin L et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism: report on new mutation of the DAX-1 gene in two siblings.
Calvari V et al.
Journal of Endocrinological Investigation, 2006
[Functional analysis of mutated DAX-1 gene in patients with X linked adrenal hypoplasia congenita complicated with hypogonadotropic hypogonadism using luteinizing hormone beta-subunit gene promotor].
Okuhara K
[hokkaido Igaku Zasshi] the Hokkaido Journal of Medical Science, 2004
Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita.
Phelan JK et al.
Human Mutation, 2001
Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression.
Achermann JC et al.
The Journal of Clinical Endocrinology and Metabolism, 2001
A microdeletion within DAX-1 in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.
Wang J et al.
Journal of Investigative Medicine : the Official Publication of the American Federation for Clinical Research, 1999
Novel DAX1 mutations in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.
Bassett JH et al.
Clinical Endocrinology, 1999