(Q46752247)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16459121%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

title

A familial missense mutation in the hinge region of DAX1 associated with late-onset AHC in a prepubertal female (English)

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16 January 2020

9

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16 January 2020

author name string

Pascal Bernard

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16459121%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Louisa Ludbrook

2

1 reference

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16 January 2020

Gloria Queipo

3

1 reference

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16 January 2020

Mary-Beth Dinulos

4

1 reference

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16 January 2020

Gad B Kletter

5

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16 January 2020

Yao-Hua Zhang

6

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16 January 2020

James K Phelan

7

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16 January 2020

Edward R B McCabe

8

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16 January 2020

Eric Vilain

10

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16 January 2020

publication date

3 February 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16459121%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

16 January 2020

published in

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16 January 2020

volume

88

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16 January 2020

issue

3

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16 January 2020

page(s)

272-279

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

16 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.12.004

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%2FJ.YMGME.2005.12.004

Mouse Dax1 expression is consistent with a role in sex determination as well as in adrenal and hypothalamus function.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.12.004

Expression of DAX-1, the gene responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism, in the hypothalamic-pituitary-adrenal/gonadal axis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.12.004

DAX-1 inhibits SF-1-mediated transactivation via a carboxy-terminal domain that is deleted in adrenal hypoplasia congenita

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.12.004

Nuclear receptor DAX-1 recruits nuclear receptor corepressor N-CoR to steroidogenic factor 1

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.12.004

DAX-1 blocks steroid production at multiple levels

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.12.004

Wilms' tumor 1 and Dax-1 modulate the orphan nuclear receptor SF-1 in sex-specific gene expression

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.12.004

Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX-1 mutations lead to combined hypothalmic and pituitary defects in gonadotropin production

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.12.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.12.004

Up-regulation of WNT-4 signaling and dosage-sensitive sex reversal in humans.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.12.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.12.004

X-linked adrenal hypoplasia congenita is caused by abnormal nuclear localization of the DAX-1 protein

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.12.004

Structure-function analysis reveals the molecular determinants of the impaired biological function of DAX-1 mutants in AHC patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.12.004

Role of the LXXLL-motif and activation function 2 domain in subcellular localization of Dax-1 (dosage-sensitive sex reversal-adrenal hypoplasia congenita critical region on the X chromosome, gene 1)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.12.004

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.12.004

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.12.004

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%2FJ.YMGME.2005.12.004

Regulation of nuclear localization: a key to a door

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.12.004

Hypogonadotropic hypogonadism in a female caused by an X-linked recessive mutation in the DAX1 gene.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.12.004

Modifier genes convert "simple" Mendelian disorders to complex traits

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.12.004

10.1016/J.YMGME.2005.12.004

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16459121%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

1 reference