(Q28115316)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24219130%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

title

A novel FOXE1 mutation (R73S) in Bamforth-Lazarus syndrome causing increased thyroidal gene expression (English)

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24219130%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

1 reference

GOA release 2020-03-11

sequence-specific DNA binding

1 reference

Bamforth-Lazarus syndrome

GOA release 2020-03-11

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24219130%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Mohamed El Kholy

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24219130%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

author name string

Aurore Carré

1

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24219130%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Dulanjalee Kariyawasam

3

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24219130%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Raphaël Teissier

5

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24219130%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Elodie Tron

6

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24219130%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Mireille Castanet

7

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24219130%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Corinne Dupuy

8

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24219130%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Michel Polak

10

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24219130%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Rasha T Hamza

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24219130%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

publication date

23 January 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24219130%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24219130%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

volume

24

2 references

3 January 2017

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29 February 2020

issue

4

2 references

3 January 2017

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29 February 2020

page(s)

649-654

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24219130%20AND%20SRC:MED&resulttype=core&format=json

Maternal isodisomy for chromosome 9 causing homozygosity for a novel FOXE1 mutation in syndromic congenital hypothyroidism

29 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3993030

Characterization of mutations in the FOXE1 gene in a cohort of unrelated Malaysian patients with congenital hypothyroidism and thyroid dysgenesis

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3993030

Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3993030

A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3993030

PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3993030

The paired domain-containing factor Pax8 and the homeodomain-containing factor TTF-1 directly interact and synergistically activate transcription

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3993030

A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3993030

Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3993030

A mouse model for hereditary thyroid dysgenesis and cleft palate

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3993030

Pax8 has a critical role in epithelial cell survival and proliferation

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3993030

Loss and gain of FUS function impair neuromuscular synaptic transmission in a genetic model of ALS.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3993030

Overexpression of mouse TTF-2 gene causes cleft palate

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3993030

Gene expression profiling at early organogenesis reveals both common and diverse mechanisms in foregut patterning

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3993030

NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in "Brain-Lung-Thyroid Syndrome".

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3993030

Intracellular expression of reactive oxygen species-generating NADPH oxidase NOX4 in normal and cancer thyroid tissues

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3993030

Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3993030

Production and application of polyclonal antibody to human thyroid transcription factor 2 reveals thyroid transcription factor 2 protein expression in adult thyroid and hair follicles and prepubertal testis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3993030

Enhanced repression by HESX1 as a cause of hypopituitarism and septooptic dysplasia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3993030

Distribution of the titf2/foxe1 gene product is consistent with an important role in the development of foregut endoderm, palate, and hair.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3993030

Identification of a cis-regulatory element and a thyroid-specific nuclear factor mediating the hormonal regulation of rat thyroid peroxidase promoter activity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3993030

Segmental aneuploidy and the genetic gross structure of the Drosophila genome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3993030

A thyroid-specific nuclear protein essential for tissue-specific expression of the thyroglobulin promoter

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3993030

The genetic analysis of a uniquely dose-sensitive chromosomal region of Drosophila melanogaster

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3993030

Purification and characterization of thyroid transcription factor 2.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3993030

Zebrafish bcl2l is a survival factor in thyroid development

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3993030

Multiplex Ligation-dependent Probe Amplification improves the detection rate of NKX2.1 mutations in patients affected by brain-lung-thyroid 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=3993030

Mice overexpressing genes from the 22q11 region deleted in velo-cardio-facial syndrome/DiGeorge syndrome have middle and inner ear defects.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3993030

27 November 2018

Identifiers

DOI

10.1089/THY.2013.0417

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24219130%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24219130%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24219130%20AND%20SRC:MED&resulttype=core&format=json