(Q34465808)

2 August 2017

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title

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

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2 August 2017

Phelan JK

1

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2 August 2017

McCabe ER

series ordinal

2

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2 August 2017

publication date

1 December 2001

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2 August 2017

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2 August 2017

volume

18

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2 August 2017

issue

6

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2 August 2017

page(s)

472-487

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

2 August 2017

cites work

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Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by analysis of DAX1.

21 January 2018

1 reference

Interaction of the corepressor Alien with DAX-1 is abrogated by mutations of DAX-1 involved in adrenal hypoplasia congenita

21 January 2018

1 reference

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

21 January 2018

1 reference

Concordance of X-linked glycerol kinase deficiency with X-linked congenital adrenal hypoplasia.

21 January 2018

1 reference

Novel DAX1 mutations in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism

21 January 2018

1 reference

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

21 January 2018

1 reference

Crystal structure of the ligand-binding domain of the human nuclear receptor RXR-alpha

21 January 2018

1 reference

Identification of a putative steroidogenic factor-1 response element in the DAX-1 promoter

21 January 2018

1 reference

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

21 January 2018

1 reference

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

21 January 2018

1 reference

Modifier genes convert "simple" Mendelian disorders to complex traits

21 January 2018

1 reference

Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics

21 January 2018

1 reference

The new dysmorphology: application of insights from basic developmental biology to the understanding of human birth defects

21 January 2018

1 reference

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

21 January 2018

1 reference

Ahch, the mouse homologue of DAX1: cloning, characterization and synteny with GyK, the glycerol kinase locus.

21 January 2018

1 reference

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

21 January 2018

1 reference

The nuclear receptor steroidogenic factor 1 acts at multiple levels of the reproductive axis

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Minipuberty of infancy and adolescent pubertal function in adrenal hypoplasia congenita

21 January 2018

1 reference

A transcriptional silencing domain in DAX-1 whose mutation causes adrenal hypoplasia congenita

21 January 2018

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Orphan receptor DAX-1 is a shuttling RNA binding protein associated with polyribosomes via mRNA

21 January 2018

1 reference

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

21 January 2018

1 reference

Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria

21 January 2018

1 reference

Sex and the single DAX1: too little is bad, but can we have too much?

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Crystal structure of the RAR-gamma ligand-binding domain bound to all-trans retinoic acid

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Monogenic traits are not simple: lessons from phenylketonuria

21 January 2018

1 reference

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

21 January 2018

1 reference

Dax1 antagonizes Sry action in mammalian sex determination

21 January 2018

1 reference

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

21 January 2018

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Active hypothalamic-pituitary-gonadal axis in an infant with X-linked adrenal hypoplasia congenita

21 January 2018

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Prolonged activation of the hypothalamus-pituitary-gonadal axis in a child with X-linked adrenal hypoplasia congenita.

21 January 2018

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DAX1 gene expression upregulated by steroidogenic factor 1 in an adrenocortical carcinoma cell line

21 January 2018

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Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways

21 January 2018

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A structural role for hormone in the thyroid hormone receptor.

21 January 2018

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

21 January 2018

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

21 January 2018

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Role of Ahch in gonadal development and gametogenesis

21 January 2018

1 reference

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

21 January 2018

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DNA binding and transcriptional repression by DAX-1 blocks steroidogenesis

21 January 2018

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DAX1 mutations map to putative structural domains in a deduced three-dimensional model

21 January 2018

1 reference

Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita.

21 January 2018

1 reference

Novel missense mutation (Leu466Arg) of the DAX1 gene in a patient with X-linked congenital adrenal hypoplasia

21 January 2018

1 reference

Molecular and structural biology of thyroid hormone receptors.

21 January 2018

1 reference

Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion

21 January 2018

1 reference

X-linked congenital adrenal hypoplasia: new mutations and long-term follow-up in three patients

21 January 2018

1 reference

Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities

21 January 2018

1 reference

Novel mutation of the DAX1 gene in a patient with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

21 January 2018

1 reference

DAX-1 gene mutations and deletions in Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism

21 January 2018

1 reference

Prepubertal diagnosis of X-linked congenital adrenal hypoplasia presenting after infancy

21 January 2018

1 reference

New frameshift mutation in the DAX-1 gene in a patient with X-linked adrenal hypoplasia and hypogonadotropic hypogonadism

21 January 2018

1 reference

A canonical structure for the ligand-binding domain of nuclear receptors

21 January 2018

1 reference

DAX-1 functions as an LXXLL-containing corepressor for activated estrogen receptors

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/HUMU.1225

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2 August 2017

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