Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies. (Q36494440)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18073311%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

title

Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18073311%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18073311%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18073311%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18073311%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Nadine G Haddad

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18073311%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Roland W Pfaeffle

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18073311%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Jesse J Savage

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18073311%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Rachel D Mullen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18073311%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Zachary P Neeb

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18073311%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Volker Hesse

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18073311%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Heike M Stobbe

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18073311%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Werner F Blum

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18073311%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Johannes F W Weigel

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18073311%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Simon J Rhodes

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18073311%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

language of work or name

English

0 references

publication date

11 December 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18073311%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Clinical Endocrinology and Metabolism

29 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18073311%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

volume

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18073311%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18073311%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

page(s)

1062-1071

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18073311%20AND%20SRC:MED&resulttype=core&format=json

Mutations in the LHX3 gene cause dysregulation of pituitary and neural target genes that reflect patient phenotypes

29 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266965

Roles of the LHX3 and LHX4 LIM-homeodomain factors in pituitary development.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266965

Functional relationship between LHX4 and POU1F1 in light of the LHX4 mutation identified in patients with pituitary defects

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266965

The adult pituitary contains a cell population displaying stem/progenitor cell and early embryonic characteristics

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266965

Genetic control of pituitary development and hypopituitarism.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266965

Pituitary hypoplasia and respiratory distress syndrome in Prop1 knockout mice

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266965

Regulation of the follicle-stimulating hormone beta gene by the LHX3 LIM-homeodomain transcription factor

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266965

Lhx4 and Prop1 are required for cell survival and expansion of the pituitary primordia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266965

A novel chromosomal translocation t(1;14)(q25;q32) in pre-B acute lymphoblastic leukemia involves the LIM homeodomain protein gene, Lhx4.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266965

Transcription factor haploinsufficiency: when half a loaf is not enough

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266965

cDNA cloning, chromosomal localization and expression pattern analysis of human LIM-homeobox gene LHX4.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266965

Role of the LIM domains in DNA recognition by the Lhx3 neuroendocrine transcription factor

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266965

Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266965

An isoform-specific inhibitory domain regulates the LHX3 LIM homeodomain factor holoprotein and the production of a functional alternate translation form

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266965

LHX3 transcription factor mutations associated with combined pituitary hormone deficiency impair the activation of pituitary target genes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266965

The homeodomain coordinates nuclear entry of the Lhx3 neuroendocrine transcription factor and association with the nuclear matrix

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266965

The LIM domain: regulation by association

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266965

Differential activation of pituitary hormone genes by human Lhx3 isoforms with distinct DNA binding properties

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266965

Characterization of the porcine Lhx3/LIM-3/P-Lim LIM homeodomain transcription factor

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266965

LIM homeodomain factors Lhx3 and Lhx4 assign subtype identities for motor neurons

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266965

Engrailed homeodomain-DNA complex at 2.2 A resolution: a detailed view of the interface and comparison with other engrailed structures

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266965

Specification of pituitary cell lineages by the LIM homeobox gene Lhx3

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266965

Gsh-4 encodes a LIM-type homeodomain, is expressed in the developing central nervous system and is required for early postnatal survival

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266965

P-Lim, a LIM homeodomain factor, is expressed during pituitary organ and cell commitment and synergizes with Pit-1.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266965

Crystal structure of an engrailed homeodomain-DNA complex at 2.8 A resolution: a framework for understanding homeodomain-DNA interactions

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266965

Multistep control of pituitary organogenesis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266965

A novel missense mutation (P366T) of the LHX4 gene causes severe combined pituitary hormone deficiency with pituitary hypoplasia, ectopic posterior lobe and a poorly developed sella turcica

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266965

Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266965

Transgenic mice expressing LHX3 transcription factor isoforms in the pituitary: effects on the gonadotrope axis and sex-specific reproductive disease

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266965

PITX genes are required for cell survival and Lhx3 activation

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266965

Re-assessment of growth hormone secretion in young adult patients with childhood-onset growth hormone deficiency

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266965

Pitx2 is required at multiple stages of pituitary organogenesis: pituitary primordium formation and cell specification.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266965

Physical growth of Swiss children from birth to 20 years of age. First Zurich longitudinal study of growth and development

21 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18073311

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Role of PROP1 in Pituitary Gland Growth

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18073311

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1210/JC.2007-1525

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18073311%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18073311%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

PubMed publication ID

18073311

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18073311%20AND%20SRC:MED&resulttype=core&format=json