Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 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
A novel DAX1/NR0B1 mutation in a patient with adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
Battistin C et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2012
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
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
Disorders of adrenal development.
Ferraz-de-Souza B et al.
Endocrine Development, 2008
A novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenita.
Ahmad I et al.
Hormone Research, 2007
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
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
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
Genetic approaches to unraveling reproductive disorders: examples of bedside to bench research in the genomic era.
Seminara SB et al.
Endocrine Reviews, 2002
Inhibition of androgen receptor (AR) function by the reproductive orphan nuclear receptor DAX-1.
Holter E et al.
Molecular Endocrinology (baltimore, Md.), 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
Orphan receptor DAX-1 is a shuttling RNA binding protein associated with polyribosomes via mRNA.
Lalli E et al.
Molecular and Cellular Biology, 2000
Interaction of the corepressor Alien with DAX-1 is abrogated by mutations of DAX-1 involved in adrenal hypoplasia congenita.
Altincicek B et al.
The Journal of Biological Chemistry, 2000
A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism.
Tabarin A et al.
The Journal of Clinical Investigation, 2000
DAX-1, an 'antitestis' gene.
Goodfellow PN et al.
Cellular and Molecular Life Sciences : Cmls, 1999
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
Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations.
Seminara SB et al.
Endocrine Reviews, 1998
Congenital adrenal hypoplasia: clinical spectrum, experience with hormonal diagnosis, and report on new point mutations of the DAX-1 gene.
Peter M et al.
The Journal of Clinical Endocrinology and Metabolism, 1998
Nuclear receptor DAX-1 recruits nuclear receptor corepressor N-CoR to steroidogenic factor 1.
Crawford PA et al.
Molecular and Cellular Biology, 1998
DAX1 mutations map to putative structural domains in a deduced three-dimensional model.
Zhang YH et al.
American Journal of Human Genetics, 1998
Three novel mutations and a de novo deletion mutation of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita.
Nakae J et al.
The Journal of Clinical Endocrinology and Metabolism, 1997
DAX-1 inhibits SF-1-mediated transactivation via a carboxy-terminal domain that is deleted in adrenal hypoplasia congenita.
Ito M et al.
Molecular and Cellular Biology, 1997
X-linked adrenal hypoplasia in a large Greenlandic family. Detection of a missense mutation (N4401) in the DAX-1 gene; implication for genetic counselling and carrier diagnosis.
Schwartz M et al.
Human Genetics, 1997