(Q28586560)

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16932809%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

title

Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans (English)

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16932809%20AND%20SRC:MED&resulttype=core&format=json

SRY (sex determining region Y)-box 2

29 December 2019

main subject

1 reference

GOA release 2020-03-11

author

Karine Rizzoti

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16932809%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Stefano Cianfarani

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16932809%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

John C. Achermann

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16932809%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

12

Robin Lovell-Badge

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16932809%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

14

Mehul T Dattani

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16932809%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

1

Daniel Kelberman

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16932809%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Maria Bitner-Glindzicz

4

object named as

Maria Bitner-Glindzicz

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16932809%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

author name string

Ariel Avilion

3

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16932809%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Julie Collins

6

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16932809%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Richard Ross

10

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16932809%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Danielle Carmignac

11

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16932809%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

W Kling Chong

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16932809%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Jeremy M W Kirk

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16932809%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Iain C A F Robinson

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16932809%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

language of work or name

English

0 references

publication date

24 August 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16932809%20AND%20SRC:MED&resulttype=core&format=json

Journal of Clinical Investigation

29 December 2019

published in

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16932809%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

volume

116

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16932809%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

issue

9

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16932809%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

page(s)

2442-2455

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16932809%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

29 December 2019

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1551933/fullTextXML

inferred from PubMed Central ID database lookup

cites work

SOX2 is a dose-dependent regulator of retinal neural progenitor competence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

Neuronal migration and ventral subtype identity in the telencephalon depend on SOX1

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

Sox2 is required for sensory organ development in the mammalian inner ear

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

Sox2 deficiency causes neurodegeneration and impaired neurogenesis in the adult mouse brain

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

SOX3 is required during the formation of the hypothalamo-pituitary axis

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

The GPR54 gene as a regulator of puberty

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

Multipotent cell lineages in early mouse development depend on SOX2 function

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

Twenty pairs of sox: extent, homology, and nomenclature of the mouse and human sox transcription factor gene families

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

The human intronless melanocortin 4-receptor gene is NMD insensitive

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

Molecular effects of novel mutations in Hesx1/HESX1 associated with human pituitary disorders

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

"Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

Sox1 directly regulates the gamma-crystallin genes and is essential for lens development in mice

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

Mouse Dll3: a novel divergent Delta gene which may complement the function of other Delta homologues during early pattern formation in the mouse embryo

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

A comparison of the properties of Sox-3 with Sry and two related genes, Sox-1 and Sox-2

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

Molecular basis of human 46X,Y sex reversal revealed from the three-dimensional solution structure of the human SRY-DNA complex

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

From stem cells to neurons and glia: a Soxist's view of neural development

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

Genetic players in esophageal atresia and tracheoesophageal fistula

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

Nonsense-mediated mRNA decay in mammals

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

SOX genes and neural progenitor identity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

The ins and outs of transcriptional control: nucleocytoplasmic shuttling in development and disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

Mutations in SOX2 cause anophthalmia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

Molecular basis of combined pituitary hormone deficiencies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

Growth hormone-releasing hormone combined with arginine or growth hormone secretagogues for the diagnosis of growth hormone deficiency in adults

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

The C-terminal nuclear localization signal of the sex-determining region Y (SRY) high mobility group domain mediates nuclear import through importin beta 1.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

Mammalian heat shock p70 and histone H4 transcripts, which derive from naturally intronless genes, are immune to nonsense-mediated decay

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

Interactions between an HMG-1 protein and members of the Rel family

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

Failure of IGF-I and IGFBP-3 to diagnose growth hormone insufficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

Two independent nuclear localization signals are present in the DNA-binding high-mobility group domains of SRY and SOX9.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

Dominant dwarfism in transgenic rats by targeting human growth hormone (GH) expression to hypothalamic GH-releasing factor neurons

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

Cross sectional stature and weight reference curves for the UK, 1990

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

NMR spectroscopic analysis of the DNA conformation induced by the human testis determining factor SRY.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

Role of SOX2 mutations in human hippocampal malformations and epilepsy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

Bilateral anophthalmia and brain malformations caused by a 20-bp deletion in the SOX2 gene.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

SOX2 anophthalmia syndrome.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

Association of anophthalmia and esophageal atresia: four new cases identified by the anophthalmia/microphthalmia clinical registry.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

Ontogeny of GnRH and olfactory neuronal systems in man: novel insights from the investigation of inherited forms of Kallmann's syndrome.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

Short procedure of GHRH plus arginine test in clinical practice

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

Characterization of cis-regulatory elements of the homeobox gene Xanf-1.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

Human sex reversal due to impaired nuclear localization of SRY. A clinical correlation.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

Comparative expression of the mouse Sox1, Sox2 and Sox3 genes from pre-gastrulation to early somite stages.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1551933

Bilateral anophthalmia and esophageal atresia: report of a new patient and review of the literature

27 November 2018

1 reference

12 December 2020

Micro-capillary tube in situ hybridisation: a novel method for processing small individual samples

1 reference

12 December 2020

GH-releasing hormone and GH-releasing peptide-6 for diagnostic testing in GH-deficient adults

1 reference

12 December 2020

Role of PROP1 in Pituitary Gland Growth

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI28658

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16932809%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16932809%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

2 references