(Q24621014)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10675358%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10675358%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

1 reference

adrenal insufficiency

1 reference

hypogonadotropic hypogonadism

inferred from title

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10675358%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

author name string

A Tabarin

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10675358%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

D Recan

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10675358%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

V Bex

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10675358%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

X Bertagna

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10675358%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

S Christin-Maitre

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10675358%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

M Ito

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10675358%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

J L Jameson

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10675358%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

P Bouchard

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10675358%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

language of work or name

English

0 references

publication date

1 February 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10675358%20AND%20SRC:MED&resulttype=core&format=json

Journal of Clinical Investigation

4 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10675358%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

volume

105

1 reference

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4 November 2019

issue

3

1 reference

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4 November 2019

page(s)

321-328

1 reference

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

4 November 2019

cites work

1 reference

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

7 April 2017

1 reference

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DNA binding and transcriptional repression by DAX-1 blocks steroidogenesis

7 April 2017

1 reference

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

7 April 2017

1 reference

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

7 April 2017

1 reference

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Role of Ahch in gonadal development and gametogenesis

7 April 2017

1 reference

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Dax1 antagonizes Sry action in mammalian sex determination

7 April 2017

1 reference

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Three novel mutations and a de novo deletion mutation of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=377437

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

7 April 2017

1 reference

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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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=377437

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=377437

Luteinizing hormone deficiency and female infertility in mice lacking the transcription factor NGFI-A (Egr-1)

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=377437

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=377437

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=377437

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=377437

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=377437

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=377437

Hormonal and developmental regulation of DAX-1 expression in Sertoli cells

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=377437

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=377437

Early growth response protein 1 binds to the luteinizing hormone-beta promoter and mediates gonadotropin-releasing hormone-stimulated gene expression

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=377437

Activation of luteinizing hormone beta gene by gonadotropin-releasing hormone requires the synergy of early growth response-1 and steroidogenic factor-1.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=377437

Resistance of hypogonadic patients with mutated GnRH receptor genes to pulsatile GnRH administration

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=377437

DAX-1 blocks steroid production at multiple levels

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=377437

The murine Dax-1 promoter is stimulated by SF-1 (steroidogenic factor-1) and inhibited by COUP-TF (chicken ovalbumin upstream promoter-transcription factor) via a composite nuclear receptor-regulatory element

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=377437

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=377437

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=377437

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

27 September 2017

1 reference

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Presence of distinct cis-acting elements on gonadotropin gene promoters in diverse species dictates the selective recruitment of different transcription factors by steroidogenic factor-1.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=377437

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=377437

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=377437

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=377437

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=377437

Neuroendocrine Control of Human Reproduction in the Male

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=377437

Utility of free alpha-subunit as an alternative neuroendocrine marker of gonadotropin-releasing hormone (GnRH) stimulation of the gonadotroph in the human: evidence from normal and GnRH-deficient men.

27 September 2017

1 reference

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Luteinizing hormone secretory pattern before and after removal of Leydig cell tumor of the testis.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=377437

Panning transfected cells for electrophysiological studies

30 May 2018

1 reference

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Cluster analysis: a simple, versatile, and robust algorithm for endocrine pulse detection

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=377437

Congenital adrenal hypoplasia and hypogonadotropic hypogonadism

30 May 2018

1 reference

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Gonadotrophin deficiency and adrenocortical insufficiency in children: a new syndrome

30 May 2018

1 reference

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Ahch and the feminine mystique.

30 May 2018

1 reference

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Congenital adrenal hypoplasia: clinical spectrum, experience with hormonal diagnosis, and report on new point mutations of the DAX-1 gene.

28 November 2018

1 reference

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Inhibin B secretion in males with gonadotropin-releasing hormone (GnRH) deficiency before and during long-term GnRH replacement: relationship to spontaneous puberty, testicular volume, and prior treatment--a clinical research center study

28 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/10675358

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10675358

12 December 2020

Measurement of dimeric inhibin B throughout the human menstrual cycle

1 reference

https://pubmed.ncbi.nlm.nih.gov/10675358

12 December 2020

The Role of DAX-1 in Reproduction

1 reference

https://pubmed.ncbi.nlm.nih.gov/10675358

12 December 2020

Use of the gonadotropin-releasing hormone agonist triptorelin in the diagnosis of delayed puberty in boys

1 reference

https://pubmed.ncbi.nlm.nih.gov/10675358

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10675358

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10675358

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10675358

12 December 2020

Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations

1 reference

https://pubmed.ncbi.nlm.nih.gov/10675358

12 December 2020

Prolonged survival without therapy in congenital adrenal hypoplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/10675358

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10675358

12 December 2020

Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita

1 reference

https://pubmed.ncbi.nlm.nih.gov/10675358

12 December 2020

Functional hypothalamic amenorrhoea: a partial and reversible gonadotrophin deficiency of nutritional origin

1 reference

https://pubmed.ncbi.nlm.nih.gov/10675358

12 December 2020

Gonadotropin releasing hormone agonist (nafarelin) test to differentiate gonadotropin deficiency from constitutionally delayed puberty in teen-age boys--a clinical research center study

1 reference

https://pubmed.ncbi.nlm.nih.gov/10675358

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10675358

12 December 2020

Tourette syndrome. The pediatric perspective

1 reference

Crossref

https://api.crossref.org/works/10.1172%2FJCI7212

7 January 2021

inferred from DOI database lookup

Ba2+ inhibition of VIP- and A23187-stimulated Cl- secretion by T84 cell monolayers

1 reference

Crossref

https://api.crossref.org/works/10.1172%2FJCI7212

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1172/JCI7212

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10675358%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10675358%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

PubMed publication ID

10675358

2 references