Associated Papers
Case Report: A Novel Truncating Variant of NR0B1 Presented With X-Linked Late-Onset Adrenal Hypoplasia Congenita With Hypogonadotropic Hypogonadism.
Zhu F et al.
Frontiers in Endocrinology, 2022
Nonsense variant of NR0B1 causes hormone disorders associated with congenital adrenal hyperplasia.
Fan DB et al.
Scientific Reports, 2021
Primary adrenal insufficiency: New genetic causes and their long-term consequences.
Buonocore F et al.
Clinical Endocrinology, 2020
Identification and Functional Analysis of Six DAX1 Mutations in Patients With X-Linked Adrenal Hypoplasia Congenita.
Suthiworachai C et al.
Journal of the Endocrine Society, 2019
Late-onset X-linked adrenal hypoplasia (DAX-1, NR0B1): two new adult-onset cases from a single center.
Kyriakakis N et al.
Pituitary, 2017
X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1-4 Genes.
Rojek A et al.
International Journal of Endocrinology, 2016
DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease.
Suntharalingham JP et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2015
Hypogonadotropic hypogonadism in subjects with DAX1 mutations.
Jadhav U et al.
Molecular and Cellular Endocrinology, 2011
Late-onset adrenal hypoplasia congenita caused by a novel mutation of the DAX-1 gene.
Yang F et al.
European Journal of Pediatrics, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
CBP/p300-interacting transactivator, with Glu/Asp-rich C-terminal domain, 2, and pre-B-cell leukemia transcription factor 1 in human adrenal development and disease.
Ferraz-de-Souza B et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
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
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.
Mericq V et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2007
An amino-terminal DAX1 (NROB1) missense mutation associated with isolated mineralocorticoid deficiency.
Verrijn Stuart AA et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
Sibling cases of Addison's disease caused by DAX-1 gene mutations.
Sekiguchi Y et al.
Internal Medicine (tokyo, Japan), 2007
Genetic disorders involving adrenal development.
Lin L et al.
Endocrine Development, 2007
Partial defects in transcriptional activity of two novel DAX-1 mutations in childhood-onset adrenal hypoplasia congenita.
Laissue P et al.
Clinical Endocrinology, 2006
A familial missense mutation in the hinge region of DAX1 associated with late-onset AHC in a prepubertal female.
Bernard P et al.
Molecular Genetics and Metabolism, 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
DAX-1, an unusual orphan receptor at the crossroads of steroidogenic function and sexual differentiation.
Lalli E et al.
Molecular Endocrinology (baltimore, Md.), 2003
Structure-function analysis reveals the molecular determinants of the impaired biological function of DAX-1 mutants in AHC patients.
Lehmann SG et al.
Human Molecular Genetics, 2003
An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita.
Ozisik G et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Genetic approaches to unraveling reproductive disorders: examples of bedside to bench research in the genomic era.
Seminara SB et al.
Endocrine Reviews, 2002
Genetic causes of human reproductive disease.
Achermann JC et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita.
Mantovani G et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
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 novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism.
Tabarin A et al.
The Journal of Clinical Investigation, 2000