Identifying the Deleterious Effect of Rare LHX4 Allelic Variants, a Challenging Issue (Q35587203)

9 August 2017

title

Identifying the Deleterious Effect of Rare LHX4 Allelic Variants, a Challenging Issue (English)

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9 August 2017

3

Alexandru Saveanu

1 reference

9 August 2017

Frederic Castinetti

13

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Anne Barlier

object named as

Anne Barlier

10

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Thierry Brue

object named as

Thierry Brue

11

0 references

Rachel Reynaud

8

object named as

Rachel Reynaud

1 reference

9 August 2017

2

Nicolas Jullien

1 reference

9 August 2017

1

Claire Rochette

1 reference

9 August 2017

12

Alain Enjalbert

1 reference

9 August 2017

5

Ignacio Bergada

1 reference

9 August 2017

Emmanuelle Caldagues

4

1 reference

9 August 2017

Debora Braslavsky

6

1 reference

9 August 2017

Marija Pfeifer

7

1 reference

9 August 2017

Jean-Paul Herman

9

1 reference

9 August 2017

language of work or name

English

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publication date

8 May 2015

1 reference

9 August 2017

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9 August 2017

volume

10

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9 August 2017

issue

5

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9 August 2017

page(s)

e0126648

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Creative Commons Attribution 4.0 International

9 August 2017

copyright license

start time

8 May 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Gradual loss of ACTH due to a novel mutation in LHX4: comprehensive mutation screening in Japanese patients with congenital hypopituitarism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425544

Pituitary development: a complex, temporal regulated process dependent on specific transcriptional factors

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425544

Genetic regulation of pituitary gland development in human and mouse

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425544

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425544

Hypothalamic and pituitary development: novel insights into the aetiology

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425544

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425544

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425544

Multistep Control of Pituitary Organogenesis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425544

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425544

A novel mutation (V101A) of the LHX4 gene in a Japanese patient with combined pituitary hormone deficiency

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425544

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425544

Genetic screening of combined pituitary hormone deficiency: experience in 195 patients.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425544

26 September 2018

Lhx4,a LIM Homeobox Gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4425544

A Familial Form of Congenital Hypopituitarism Due to aPROP1Mutation in a Large Kindred: Phenotypic andin VitroFunctional Studies

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25955177

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

An Uncommon Phenotype with Familial Central Hypogonadism Caused by a NovelPROP1Gene Mutant Truncated in the Transactivation Domain

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25955177

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A Novel Dysfunctional LHX4 Mutation with High Phenotypical Variability in Patients with Hypopituitarism

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25955177

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0126648

1 reference

9 August 2017

0 references

1 reference

9 August 2017

1 reference