(Q28259132)

https://api.crossref.org/works/10.1016%2FS0003-4266%2805%2981755-X

Phenotypic spectrum of mutations in DAX-1 and SF-1

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-4266%2805%2981755-X

A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-4266%2805%2981755-X

Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-4266%2805%2981755-X

Differential requirement for steroidogenic factor-1 gene dosage in adrenal development versus endocrine function

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-4266%2805%2981755-X

Identification of a novel missense mutation that is as damaging to DAX-1 repressor function as a nonsense mutation.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-4266%2805%2981755-X

A microdeletion in the ligand binding domain of human steroidogenic factor 1 causes XY sex reversal without adrenal insufficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-4266%2805%2981755-X

Amplification of the steroidogenic factor 1 gene in childhood adrenocortical tumors

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-4266%2805%2981755-X

Phosphorylation and intramolecular stabilization of the ligand binding domain in the nuclear receptor steroidogenic factor 1.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-4266%2805%2981755-X

Phosphorylation of the nuclear receptor SF-1 modulates cofactor recruitment: integration of hormone signaling in reproduction and stress

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-4266%2805%2981755-X

Testicular dysgenesis without adrenal insufficiency in a 46,XY patient with a heterozygous inactive mutation of steroidogenic factor-1.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-4266%2805%2981755-X

A naturally occurring steroidogenic factor-1 mutation exhibits differential binding and activation of target genes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-4266%2805%2981755-X

Blockage of the rete testis and efferent ductules by ectopic Sertoli and Leydig cells causes infertility in Dax1-deficient male mice

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-4266%2805%2981755-X

DAX-1, an unusual orphan receptor at the crossroads of steroidogenic function and sexual differentiation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-4266%2805%2981755-X

A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-4266%2805%2981755-X

Knockout mice lacking steroidogenic factor 1 are a novel genetic model of hypothalamic obesity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-4266%2805%2981755-X

Gonadal dysgenesis without adrenal insufficiency in a 46, XY patient heterozygous for the nonsense C16X mutation: a case of SF1 haploinsufficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-4266%2805%2981755-X

Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-4266%2805%2981755-X

Dax1 regulates testis cord organization during gonadal differentiation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-4266%2805%2981755-X

Dax1 is required for testis determination

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-4266%2805%2981755-X

Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-4266%2805%2981755-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-4266%2805%2981755-X

SF1 in the development of the adrenal gland and gonads.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-4266%2805%2981755-X

Steroidogenic Factor 1: A Key Determinant of Endocrine Development and Function

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-4266%2805%2981755-X

Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-4266%2805%2981755-X

Structural basis for ligand-independent activation of the orphan nuclear receptor LRH-1

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-4266%2805%2981755-X

Addison's disease due to congenital hypoplasia of the adrenals in an infant aged 33 days

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-4266%2805%2981755-X

A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-4266%2805%2981755-X

A mutated form of steroidogenic factor 1 (SF-1 G35E) that causes sex reversal in humans fails to synergize with transcription factor GATA-4.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-4266%2805%2981755-X

Aromatase (Cyp19) expression is up-regulated by targeted disruption of Dax1.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-4266%2805%2981755-X

Cloning and sequence analysis of the human gene encoding steroidogenic factor 1.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-4266%2805%2981755-X

Role of Ahch in gonadal development and gametogenesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-4266%2805%2981755-X

An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-4266%2805%2981755-X