(Q35206200)

English

An intronic SNP in the thyroid hormone receptor β gene is associated with pituitary cell-specific over-expression of a mutant thyroid hormone receptor β2 (R338W) in the index case of pituitary-selective resistance to thyroid hormone

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

7 August 2017

An intronic SNP in the thyroid hormone receptor β gene is associated with pituitary cell-specific over-expression of a mutant thyroid hormone receptor β2 (R338W) in the index case of pituitary-selective resistance to thyroid hormone (English)

1 reference

Europe PubMed Central

7 August 2017

author name string

Anna Teresa Alberobello

1

1 reference

Europe PubMed Central

7 August 2017

Valentina Congedo

2

1 reference

Europe PubMed Central

7 August 2017

Hong Liu

3

1 reference

Europe PubMed Central

7 August 2017

Craig Cochran

4

1 reference

Europe PubMed Central

7 August 2017

Monica C Skarulis

5

1 reference

Europe PubMed Central

7 August 2017

Douglas Forrest

6

1 reference

Europe PubMed Central

7 August 2017

Francesco S Celi

7

1 reference

Europe PubMed Central

7 August 2017

publication date

26 August 2011

1 reference

Europe PubMed Central

7 August 2017

Journal of Translational Medicine

1 reference

Europe PubMed Central

7 August 2017

9

1 reference

Europe PubMed Central

7 August 2017

144

1 reference

Europe PubMed Central

7 August 2017

https://scigraph.springernature.com/pub.10.1186/1479-5876-9-144

0 references

Genomic views of distant-acting enhancers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170239

13 July 2018

Cis-regulatory mutations in human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170239

13 July 2018

A thyroid hormone receptor mutation that dissociates thyroid hormone regulation of gene expression in vivo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170239

13 July 2018

A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170239

13 July 2018

Biochemistry, cellular and molecular biology, and physiological roles of the iodothyronine selenodeiodinases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170239

13 July 2018

A COL1A1 Sp1 binding site polymorphism predisposes to osteoporotic fracture by affecting bone density and quality

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170239

13 July 2018

Isoform variable action among thyroid hormone receptor mutants provides insight into pituitary resistance to thyroid hormone

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170239

13 July 2018

Thyroid hormone receptor beta2 promoter activity in pituitary cells is regulated by Pit-1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170239

13 July 2018

Pituitary resistance to thyroid hormone associated with a base mutation in the hormone-binding domain of the human 3,5,3'-triiodothyronine receptor-beta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170239

13 July 2018

Multiple genetic factors in the heterogeneity of thyroid hormone resistance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170239

13 July 2018

The syndromes of resistance to thyroid hormone

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170239

13 July 2018

Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone. Identification of thirteen novel mutations in the thyroid hormone receptor beta gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170239

13 July 2018

Resistance to thyroid hormone--an uncommon cause of thyroxine excess and inappropriate TSH secretion.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170239

13 July 2018

The variable clinical phenotype in thyroid hormone resistance syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170239

13 July 2018

Familial syndrome combining deaf-mutism, stuppled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170239

13 July 2018

Identification of a thyroid hormone receptor that is pituitary-specific

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170239

13 July 2018

Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170239

13 July 2018

Thyrotropin-induced hyperthyroidism caused by selective pituitary resistance to thyroid hormone. A new syndrome of "inappropriate secretion of TSH"

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170239

13 July 2018

An intron control region differentially regulates expression of thyroid hormone receptor beta2 in the cochlea, pituitary, and cone photoreceptors.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170239

26 September 2018

Multiple messenger ribonucleic acid variants regulate cell-specific expression of human thyroid hormone receptor beta1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170239

26 September 2018

Functional properties of a mutant T3 receptor beta (R338W) identified in a subject with pituitary resistance to thyroid hormone.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170239

26 September 2018

Genetic and clinical features of 42 kindreds with resistance to thyroid hormone. The National Institutes of Health Prospective Study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170239

26 September 2018

Influence of age and sex on the concentrations of thyroid hormone in serum in the rat

1 reference

https://pubmed.ncbi.nlm.nih.gov/21871106

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1479-5876-9-144

1 reference

Europe PubMed Central

7 August 2017

1 reference

Europe PubMed Central

7 August 2017

1 reference

Europe PubMed Central

7 August 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q35206200&oldid=1583684403"