Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function. (Q35800939)

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scientific article published on 2 January 2007

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English	Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.	scientific article published on 2 January 2007

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23 December 2019

Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function (English)

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Pascal Philibert

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Bruno Ferraz-de-Souza

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J. Larry Jameson

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John C. Achermann

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Gerard S Conway

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Gerard S Conway

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Ieuan A Hughes

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Mehul T Dattani

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Mehul T Dattani

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Daniel Kelberman

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Daniel Kelberman

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Lin Lin

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Tessa Homfray

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Assunta Albanese

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Veruska Molini

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Silvia Einaudi

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Charles Sultan

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2 January 2007

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23 December 2019

The Journal of Clinical Endocrinology and Metabolism

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991-999

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23 December 2019

Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience

1 reference

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11 July 2018

Consensus statement on management of intersex disorders

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11 July 2018

Switching of NR5A proteins associated with the inhibin alpha-subunit gene promoter after activation of the gene in granulosa cells

1 reference

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11 July 2018

SF-1 (nuclear receptor 5A1) activity is activated by cyclic AMP via p300-mediated recruitment to active foci, acetylation, and increased DNA binding.

1 reference

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11 July 2018

The crystal structures of human steroidogenic factor-1 and liver receptor homologue-1.

1 reference

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11 July 2018

Nuclear receptors Sf1 and Dax1 function cooperatively to mediate somatic cell differentiation during testis development

1 reference

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11 July 2018

Structural analyses reveal phosphatidyl inositols as ligands for the NR5 orphan receptors SF-1 and LRH-1.

1 reference

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11 July 2018

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

1 reference

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11 July 2018

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

1 reference

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11 July 2018

Activation of protein kinase A alters subnuclear distribution pattern of human steroidogenic factor 1 in living cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1872053

11 July 2018

Cell-specific knockout of steroidogenic factor 1 reveals its essential roles in gonadal function

1 reference

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11 July 2018

Transient, ligand-dependent arrest of the androgen receptor in subnuclear foci alters phosphorylation and coactivator interactions

1 reference

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11 July 2018

Protein kinase A potentiates adrenal 4 binding protein/steroidogenic factor 1 transactivation by reintegrating the subcellular dynamic interactions of the nuclear receptor with its cofactors, general control nonderepressed-5/transformation/transcrip

1 reference

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11 July 2018

Regulation of subnuclear localization is associated with a mechanism for nuclear receptor corepression by RIP140

1 reference

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11 July 2018

Steroidogenic factor 1: an essential mediator of endocrine development

1 reference

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11 July 2018

Ligand-mediated assembly and real-time cellular dynamics of estrogen receptor alpha-coactivator complexes in living cells

1 reference

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11 July 2018

Haploinsufficiency of steroidogenic factor-1 in mice disrupts adrenal development leading to an impaired stress response.

1 reference

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11 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1872053

11 July 2018

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

1 reference

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11 July 2018

A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans

1 reference

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11 July 2018

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

1 reference

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11 July 2018

Steroidogenic factor-1 and early growth response protein 1 act through two composite DNA binding sites to regulate luteinizing hormone beta-subunit gene expression.

1 reference

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11 July 2018

Steroidogenic factor 1: a key determinant of endocrine development and function

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11 July 2018

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

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11 July 2018

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

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11 July 2018

Mice deficient in the orphan receptor steroidogenic factor 1 lack adrenal glands and gonads but express P450 side-chain-cleavage enzyme in the placenta and have normal embryonic serum levels of corticosteroids

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11 July 2018

Association of cryptorchidism with Gly146Ala polymorphism in the gene for steroidogenic factor-1.

1 reference

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25 September 2018

Sequence-specific deoxyribonucleic acid (DNA) recognition by steroidogenic factor 1: a helix at the carboxy terminus of the DNA binding domain is necessary for complex stability.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1872053

25 September 2018

Association of severe micropenis with Gly146Ala polymorphism in the gene for steroidogenic factor-1.

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25 September 2018

Temporal and spatial expression of liver receptor homologue-1 (LRH-1) during embryogenesis suggests a potential role in gonadal development.

1 reference

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25 September 2018

Of mice and men: The tale of steroidogenic factor-1.

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25 September 2018

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

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25 September 2018

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

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25 September 2018

A novel, C-terminal dominant negative mutation of the GR causes familial glucocorticoid resistance through abnormal interactions with p160 steroid receptor coactivators

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25 September 2018

Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner.

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25 September 2018

Murine relaxin-like factor promoter: functional characterization and regulation by transcription factors steroidogenic factor 1 and DAX-1.

1 reference

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25 September 2018

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

1 reference

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25 September 2018

The glucocorticoid receptor interacting protein 1 (GRIP1) localizes in discrete nuclear foci that associate with ND10 bodies and are enriched in components of the 26S proteasome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1872053

25 September 2018

Crystallographic identification and functional characterization of phospholipids as ligands for the orphan nuclear receptor steroidogenic factor-1

1 reference

https://pubmed.ncbi.nlm.nih.gov/17200175

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17200175

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1210/JC.2006-1672

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23 December 2019

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23 December 2019

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23 December 2019

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