(Q40634903)

English

Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone. First workshop on thyroid hormone resistance, July 10-11, 1993, Cambridge, U.K.

scientific article published on April 1994

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

22 September 2017

1 reference

Europe PubMed Central

Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone. First workshop on thyroid hormone resistance, July 10-11, 1993, Cambridge, U.K. (English)

1 reference

Europe PubMed Central

PubMed publication ID

22 September 2017

0 references

author name string

P Beck-Peccoz

1

1 reference

Europe PubMed Central

PubMed publication ID

22 September 2017

V K Chatterjee

2

1 reference

Europe PubMed Central

PubMed publication ID

22 September 2017

W W Chin

3

1 reference

Europe PubMed Central

PubMed publication ID

22 September 2017

L J DeGroot

4

1 reference

Europe PubMed Central

PubMed publication ID

22 September 2017

J L Jameson

5

1 reference

Europe PubMed Central

PubMed publication ID

22 September 2017

H Nakamura

6

1 reference

Europe PubMed Central

PubMed publication ID

22 September 2017

S Refetoff

7

1 reference

Europe PubMed Central

PubMed publication ID

22 September 2017

S J Usala

8

1 reference

Europe PubMed Central

PubMed publication ID

22 September 2017

B D Weintraub

9

1 reference

Europe PubMed Central

PubMed publication ID

22 September 2017

publication date

1 April 1994

1 reference

Europe PubMed Central

PubMed publication ID

22 September 2017

Journal of Endocrinological Investigation

1 reference

Europe PubMed Central

PubMed publication ID

22 September 2017

17

1 reference

Europe PubMed Central

PubMed publication ID

22 September 2017

4

1 reference

Europe PubMed Central

PubMed publication ID

22 September 2017

283-287

1 reference

Europe PubMed Central

PubMed publication ID

22 September 2017

https://scigraph.springernature.com/pub.10.1007/bf03348977

0 references

Tight linkage between the syndrome of generalized thyroid hormone resistance and the human c-erbA beta gene

1 reference

https://api.crossref.org/works/10.1007%2FBF03348977

21 January 2018

The c-erb-A gene encodes a thyroid hormone receptor

1 reference

https://api.crossref.org/works/10.1007%2FBF03348977

21 January 2018

Structural analysis of human thyroid hormone receptor beta gene

1 reference

https://api.crossref.org/works/10.1007%2FBF03348977

21 January 2018

Screening of nineteen unrelated families with generalized resistance to thyroid hormone for known point mutations in the thyroid hormone receptor beta gene and the detection of a new mutation

1 reference

https://api.crossref.org/works/10.1007%2FBF03348977

21 January 2018

Rapid localization of mutations in the thyroid hormone receptor-beta gene by denaturing gradient gel electrophoresis in 18 families with thyroid hormone resistance

1 reference

https://api.crossref.org/works/10.1007%2FBF03348977

21 January 2018

An arginine to histidine mutation in codon 311 of the C-erbA beta gene results in a mutant thyroid hormone receptor that does not mediate a dominant negative phenotype

1 reference

https://api.crossref.org/works/10.1007%2FBF03348977

21 January 2018

Interaction of human beta 1 thyroid hormone receptor and its mutants with DNA and retinoid X receptor beta. T3 response element-dependent dominant negative potency

1 reference

https://api.crossref.org/works/10.1007%2FBF03348977

21 January 2018

Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid hormone receptor beta gene. Analysis of 15 families

1 reference

https://api.crossref.org/works/10.1007%2FBF03348977

21 January 2018

Molecular diagnosis and characterization of thyroid hormone resistance syndromes

1 reference

https://api.crossref.org/works/10.1007%2FBF03348977

21 January 2018

Generalized thyroid hormone resistance: identification of an arginine to cystine mutation in codon 315 of the c-erb A beta thyroid hormone receptor.

1 reference

https://api.crossref.org/works/10.1007%2FBF03348977

21 January 2018

A homozygous deletion in the c-erbA beta thyroid hormone receptor gene in a patient with generalized thyroid hormone resistance: isolation and characterization of the mutant receptor

1 reference

https://api.crossref.org/works/10.1007%2FBF03348977

21 January 2018

Dextrothyroxine in the treatment of generalized thyroid hormone resistance in a boy homozygous for a defect in the T3 receptor

1 reference

https://api.crossref.org/works/10.1007%2FBF03348977

21 January 2018

Kindred S thyroid hormone receptor is an active and constitutive silencer and a repressor for thyroid hormone and retinoic acid responses

1 reference

https://api.crossref.org/works/10.1007%2FBF03348977

21 January 2018

Identification of a novel mutation in the gene encoding the beta-triiodothyronine receptor in a patient with apparent selective pituitary resistance to thyroid hormone

1 reference

https://api.crossref.org/works/10.1007%2FBF03348977

21 January 2018

A New Point Mutation in the 3,5,3′-Triiodothyronine-Binding Domain of the c-erbAβThyroid Hormone Receptor Is Tightly Linked to Generalized Thyroid Hormone Resistance

1 reference

https://api.crossref.org/works/10.1007%2FBF03348977

21 January 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://api.crossref.org/works/10.1007%2FBF03348977

21 January 2018

Functional properties of a novel mutant thyroid hormone receptor in a family with generalized thyroid hormone resistance syndrome

1 reference

https://api.crossref.org/works/10.1007%2FBF03348977

21 January 2018

Differential expression of mutant and normal beta T3 receptor alleles in kindreds with generalized resistance to thyroid hormone

1 reference

https://api.crossref.org/works/10.1007%2FBF03348977

21 January 2018

Single base mutation in the hormone binding domain of the thyroid hormone receptor beta gene in generalised thyroid hormone resistance demonstrated by single stranded conformation polymorphism analysis.

1 reference

https://api.crossref.org/works/10.1007%2FBF03348977

21 January 2018

Characterization of a novel mutant human thyroid hormone receptor beta in a family with hereditary thyroid hormone resistance

1 reference

https://api.crossref.org/works/10.1007%2FBF03348977

21 January 2018

A point mutation of the T3 receptor beta 1 gene in a kindred of generalized resistance to thyroid hormone

1 reference

https://api.crossref.org/works/10.1007%2FBF03348977

21 January 2018

Thyroid hormone and DNA binding properties of a mutant c-erbA beta receptor associated with generalized thyroid hormone resistance.

1 reference

https://api.crossref.org/works/10.1007%2FBF03348977

21 January 2018

Variable transcriptional activity and ligand binding of mutant beta 1 3,5,3'-triiodothyronine receptors from four families with generalized resistance to thyroid hormone.

1 reference

https://pubmed.ncbi.nlm.nih.gov/7930382

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Syndromes of thyroid hormone resistance

1 reference

https://pubmed.ncbi.nlm.nih.gov/7930382

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/7930382

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of seven novel mutations of the c-erbA beta gene in unrelated kindreds with generalized thyroid hormone resistance. Evidence for two "hot spot" regions of the ligand binding domain

1 reference

https://pubmed.ncbi.nlm.nih.gov/7930382

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The syndromes of resistance to thyroid hormone

1 reference

https://pubmed.ncbi.nlm.nih.gov/7930382

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Thyroid hormone resistance syndrome. Inhibition of normal receptor function by mutant thyroid hormone receptors

1 reference

https://pubmed.ncbi.nlm.nih.gov/7930382

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of the thyroid hormone receptor-beta gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/7930382

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A point mutation (Ala229 to Thr) in the hinge domain of the c-erbA beta thyroid hormone receptor gene in a family with generalized thyroid hormone resistance

1 reference

https://pubmed.ncbi.nlm.nih.gov/7930382

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A base mutation of the C-erbA beta thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindreds

1 reference

https://pubmed.ncbi.nlm.nih.gov/7930382

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dominant negative inhibition by mutant thyroid hormone receptors is thyroid hormone response element and receptor isoform specific

1 reference

https://pubmed.ncbi.nlm.nih.gov/7930382

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Correlations of language abnormalities with localization of mutations in the beta-thyroid hormone receptor in 13 kindreds with generalized resistance to thyroid hormone: identification of four new mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/7930382

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A point mutation in the 3,5,3'-triiodothyronine-binding domain of thyroid hormone receptor-beta associated with a family with generalized resistance to thyroid hormone

1 reference

https://pubmed.ncbi.nlm.nih.gov/7930382

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple genetic factors in the heterogeneity of thyroid hormone resistance

1 reference

https://pubmed.ncbi.nlm.nih.gov/7930382

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The relative expression of mutant and normal thyroid hormone receptor genes in patients with generalized resistance to thyroid hormone determined by estimation of their specific messenger ribonucleic acid products

1 reference

https://pubmed.ncbi.nlm.nih.gov/7930382

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An arginine to histidine mutation in codon 315 of the c-erbA beta thyroid hormone receptor in a kindred with generalized resistance to thyroid hormones results in a receptor with significant 3,5,3'-triiodothyronine binding activity

1 reference

https://pubmed.ncbi.nlm.nih.gov/7930382

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF03348977

1 reference

Europe PubMed Central

PubMed publication ID

22 September 2017

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

22 September 2017

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=Q40634903&oldid=1503945349"