DAX1 mutations map to putative structural domains in a deduced three-dimensional model (Q34385002)

1 August 2017

title

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

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1 August 2017

19

J G Pappas

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1 August 2017

K Anyane-Yeboa

8

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author name string

Y H Zhang

1

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1 August 2017

W Guo

2

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1 August 2017

R L Wagner

3

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1 August 2017

B L Huang

4

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1 August 2017

L McCabe

5

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1 August 2017

E Vilain

6

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1 August 2017

T P Burris

7

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1 August 2017

A H Burghes

9

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1 August 2017

D Chitayat

10

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1 August 2017

A E Chudley

11

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1 August 2017

M Genel

12

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1 August 2017

J M Gertner

13

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1 August 2017

G J Klingensmith

14

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1 August 2017

S N Levine

15

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1 August 2017

J Nakamoto

16

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1 August 2017

M I New

17

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1 August 2017

R A Pagon

18

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1 August 2017

C A Quigley

20

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1 August 2017

I M Rosenthal

21

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1 August 2017

J D Baxter

22

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1 August 2017

R J Fletterick

23

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1 August 2017

E R McCabe

24

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1 August 2017

language of work or name

English

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publication date

1 April 1998

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American Journal of Human Genetics

1 August 2017

published in

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1 August 2017

volume

62

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1 August 2017

issue

4

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1 August 2017

page(s)

855-864

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

1 August 2017

cites work

1 reference

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

6 July 2018

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

6 July 2018

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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

6 July 2018

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mtDNA analysis shows common ancestry in two kindreds with X-linked recessive hypoparathyroidism and reveals a heteroplasmic silent mutation

6 July 2018

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Truncation at the C-terminus of the DAX-1 protein impairs its biological actions in patients with X-linked adrenal hypoplasia congenita

6 July 2018

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

6 July 2018

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

6 July 2018

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The gene responsible for adrenal hypoplasia congenita, DAX-1, encodes a nuclear hormone receptor that defines a new class within the superfamily.

6 July 2018

1 reference

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Genomic sequence of the DAX1 gene: an orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

6 July 2018

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An orphan nuclear hormone receptor that lacks a DNA binding domain and heterodimerizes with other receptors

6 July 2018

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New mutations of DAX-1 genes in two Japanese patients with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism

6 July 2018

1 reference

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

6 July 2018

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

6 July 2018

1 reference

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Combining evolutionary information and neural networks to predict protein secondary structure

6 July 2018

1 reference

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

6 July 2018

1 reference

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

6 July 2018

1 reference

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Molecular mechanisms of action of steroid/thyroid receptor superfamily members

6 July 2018

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

6 July 2018

1 reference

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

6 July 2018

1 reference

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The nuclear hormone receptor gene superfamily

6 July 2018

1 reference

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

6 July 2018

1 reference

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A structural role for hormone in the thyroid hormone receptor.

6 July 2018

1 reference

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Familial cytomegalic adrenocortical hypoplasia: an X-linked syndrome of pubertal failure

6 July 2018

1 reference

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Congenital adrenal hypoplasia: two new cases

6 July 2018

1 reference

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Contrasting effects of subcutaneous pulsatile GnRH therapy in congenital adrenal hypoplasia and Kallmann's syndrome.

6 July 2018

1 reference

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Hypogonadism in congenital adrenal hypoplasia: evidence for a hypothalamic origin.

6 July 2018

1 reference

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Failure to induce puberty in a man with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism by pulsatile administration of low-dose gonadotropin-releasing hormone

6 July 2018

1 reference

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Adrenal dysfunction in glycerol kinase deficiency

6 July 2018

1 reference

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Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

6 July 2018

1 reference

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Characterization and colocalization of steroid binding and dimerization activities in the mouse estrogen receptor

6 July 2018

1 reference

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Congenital adrenal hypoplasia and hypogonadotropic hypogonadism

6 July 2018

1 reference

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DNA sequencing with chain-terminating inhibitors

6 July 2018

1 reference

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Cytomegalic adrenal hypoplasia with pituitary cytomegaly

6 July 2018

1 reference

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Steroidogenic factor 1 and Dax-1 colocalize in multiple cell lineages: potential links in endocrine development.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377022

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377022

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

27 October 2018

1 reference

12 December 2020

Luteinizing hormone deficiency in hereditary congenital adrenal hypoplasia

1 reference

12 December 2020

Gonadotropin deficiency and cryptorchidism in three prepubertal brothers with congenital adrenal hypoplasia

1 reference

12 December 2020

Lack of gonadotropic response to pulsatile gonadotropin-releasing hormone in isolated hypogonadotropic hypogonadism associated to congenital adrenal hypoplasia

1 reference

12 December 2020

Hypothalamic hypogonadism in congenital adrenal hypoplasia

1 reference

12 December 2020

Thyroid hormone receptor mutations that interfere with transcriptional activation also interfere with receptor interaction with a nuclear protein

1 reference

12 December 2020

Diagnosis of X-linked Adrenal Hypoplasia Congenita by Mutation Analysis of the DAX1 Gene

1 reference

12 December 2020

Identifiers

DOI

10.1086/301782

1 reference

1 August 2017

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1 August 2017

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