(Q24303392)

English

Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid

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scholarly article

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Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid (English)

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congenital disorder

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1 reference

GOA release 2020-03-11

regulation of thyroid-stimulating hormone secretion

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GOA release 2020-03-11

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GOA release 2020-03-11

congenital hypothyroidism

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based on heuristic

inferred from title

Sabine Costagliola

9

object named as

Sabine Costagliola

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Gilbert Vassart

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object named as

Gilbert Vassart

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author name string

Laurent Meeus

1

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Brigitte Gilbert

2

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Catherine Rydlewski

3

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Jasmine Parma

4

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Anne Lienhardt Roussie

5

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Marc Abramowicz

6

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Catheline Vilain

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Daniel Christophe

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language of work or name

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publication date

September 2004

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The Journal of Clinical Endocrinology and Metabolism

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89

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9

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4285-91

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Site-specific mutagenesis by using an accurate recombinant polymerase chain reaction method

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https://api.crossref.org/works/10.1210%2FJC.2004-0166

7 January 2021

based on heuristic

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Hypothyroidism in a Brazilian kindred due to iodide trapping defect caused by a homozygous mutation in the sodium/iodide symporter gene

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https://api.crossref.org/works/10.1210%2FJC.2004-0166

7 January 2021

based on heuristic

inferred from DOI database lookup

Monoallelic expression: 'there can only be one'

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https://api.crossref.org/works/10.1210%2FJC.2004-0166

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular events involved in differentiation of thyroid follicular cells.

1 reference

https://api.crossref.org/works/10.1210%2FJC.2004-0166

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic basis of hypothyroidism: recent advances, gaps and strategies for future research.

1 reference

https://api.crossref.org/works/10.1210%2FJC.2004-0166

7 January 2021

based on heuristic

inferred from DOI database lookup

Development of the thyroid gland: lessons from congenitally hypothyroid mice and men.

1 reference

https://api.crossref.org/works/10.1210%2FJC.2004-0166

7 January 2021

based on heuristic

inferred from DOI database lookup

A mouse model for hereditary thyroid dysgenesis and cleft palate

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https://api.crossref.org/works/10.1210%2FJC.2004-0166

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1210%2FJC.2004-0166

7 January 2021

based on heuristic

inferred from DOI database lookup

PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis

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https://api.crossref.org/works/10.1210%2FJC.2004-0166

7 January 2021

based on heuristic

inferred from DOI database lookup

Follicular cells of the thyroid gland require Pax8 gene function

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https://api.crossref.org/works/10.1210%2FJC.2004-0166

7 January 2021

based on heuristic

inferred from DOI database lookup

Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

1 reference

https://api.crossref.org/works/10.1210%2FJC.2004-0166

7 January 2021

based on heuristic

inferred from DOI database lookup

Structural defects of a Pax8 mutant that give rise to congenital hypothyroidism

1 reference

https://api.crossref.org/works/10.1210%2FJC.2004-0166

7 January 2021

based on heuristic

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Renal aplasia is the predominant cause of congenital solitary kidneys

1 reference

https://api.crossref.org/works/10.1210%2FJC.2004-0166

7 January 2021

based on heuristic

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Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism

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https://api.crossref.org/works/10.1210%2FJC.2004-0166

7 January 2021

based on heuristic

inferred from DOI database lookup

Pax8 has a key role in thyroid cell differentiation

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https://api.crossref.org/works/10.1210%2FJC.2004-0166

7 January 2021

based on heuristic

inferred from DOI database lookup

Role of the thyroid-stimulating hormone receptor signaling in development and differentiation of the thyroid gland

1 reference

https://api.crossref.org/works/10.1210%2FJC.2004-0166

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1210%2FJC.2004-0166

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1210%2FJC.2004-0166

7 January 2021

based on heuristic

inferred from DOI database lookup

Transient iodine organification defect in infants with ectopic thyroid glands.

1 reference

https://api.crossref.org/works/10.1210%2FJC.2004-0166

7 January 2021

based on heuristic

inferred from DOI database lookup

The T/ebp null mouse: thyroid-specific enhancer-binding protein is essential for the organogenesis of the thyroid, lung, ventral forebrain, and pituitary

1 reference

https://api.crossref.org/works/10.1210%2FJC.2004-0166

7 January 2021

based on heuristic

inferred from DOI database lookup

Crystal structure of the human Pax6 paired domain-DNA complex reveals specific roles for the linker region and carboxy-terminal subdomain in DNA binding

1 reference

https://api.crossref.org/works/10.1210%2FJC.2004-0166

7 January 2021

based on heuristic

inferred from DOI database lookup

Nephric lineage specification by Pax2 and Pax8

1 reference

https://api.crossref.org/works/10.1210%2FJC.2004-0166

7 January 2021

based on heuristic

inferred from DOI database lookup

Pax-8, a paired domain-containing protein, binds to a sequence overlapping the recognition site of a homeodomain and activates transcription from two thyroid-specific promoters

1 reference

https://api.crossref.org/works/10.1210%2FJC.2004-0166

7 January 2021

based on heuristic

inferred from DOI database lookup

The paired-domain transcription factor Pax8 binds to the upstream enhancer of the rat sodium/iodide symporter gene and participates in both thyroid-specific and cyclic-AMP-dependent transcription

1 reference

https://api.crossref.org/works/10.1210%2FJC.2004-0166

7 January 2021

based on heuristic

inferred from DOI database lookup

Congenital hypothyroidism, spiky hair, and cleft palate

1 reference

https://api.crossref.org/works/10.1210%2FJC.2004-0166

7 January 2021

based on heuristic

inferred from DOI database lookup

Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency

1 reference

https://api.crossref.org/works/10.1210%2FJC.2004-0166

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter

1 reference

https://api.crossref.org/works/10.1210%2FJC.2004-0166

7 January 2021

based on heuristic

inferred from DOI database lookup

Discordance of monozygotic twins for thyroid dysgenesis: implications for screening and for molecular pathophysiology.

1 reference

https://api.crossref.org/works/10.1210%2FJC.2004-0166

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child

1 reference

https://api.crossref.org/works/10.1210%2FJC.2004-0166

7 January 2021

based on heuristic

inferred from DOI database lookup

Thyroid developmental anomalies in first degree relatives of children with congenital hypothyroidism

1 reference

https://api.crossref.org/works/10.1210%2FJC.2004-0166

7 January 2021

based on heuristic

inferred from DOI database lookup

Monoallelic expression of Pax5: a paradigm for the haploinsufficiency of mammalian Pax genes?

1 reference

https://api.crossref.org/works/10.1210%2FJC.2004-0166

7 January 2021

based on heuristic

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Identifiers

10.1210/JC.2004-0166

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

release_j5myyab565etjimh6r46btffke

1 reference

https://api.fatcat.wiki/v0/release/j5myyab565etjimh6r46btffke

24 November 2022

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mapped directly with Wikidata item

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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