(Q34236575)

English

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

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

31 July 2017

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 (English)

1 reference

Europe PubMed Central

31 July 2017

Samuel Refetoff

1 reference

ORCID Public Data File 2021

author name string

K Takeda

1

1 reference

Europe PubMed Central

31 July 2017

S Balzano

2

1 reference

Europe PubMed Central

31 July 2017

A Sakurai

3

1 reference

Europe PubMed Central

31 July 2017

L J DeGroot

4

1 reference

Europe PubMed Central

31 July 2017

S Refetoff

5

1 reference

Europe PubMed Central

31 July 2017

language of work or name

0 references

publication date

1 February 1991

1 reference

Europe PubMed Central

31 July 2017

Journal of Clinical Investigation

1 reference

Europe PubMed Central

31 July 2017

87

1 reference

Europe PubMed Central

31 July 2017

496-502

1 reference

Europe PubMed Central

31 July 2017

2

1 reference

Europe PubMed Central

31 July 2017

Peripheral resistance to thyroid hormone in an infant.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296336

28 July 2018

Hormonal regulation of glycosaminoglycan accumulation in fibroblasts from patients with 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=296336

28 July 2018

Familial Resistance to Thyroid Hormone Associated with Decreased Transport Across the Plasma Membrane

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296336

28 July 2018

Polymorphic DNA region adjacent to the 5' end of the human insulin gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296336

28 July 2018

Studies of a sibship with apparent hereditary resistance to the intracellular action of thyroid hormone

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296336

28 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=296336

28 July 2018

A novel thyroid hormone receptor encoded by a cDNA clone from a human testis library

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296336

28 July 2018

Resistance to thyroid hormone diagnosed by the reduced response of fibroblasts to the triiodothyronine-induced suppression of fibronectin synthesis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296336

28 July 2018

Familial generalized resistance to thyroid hormones: report of three kindreds and correlation of patterns of affected tissues with the binding of [125I] triiodothyronine to fibroblast nuclei

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296336

28 July 2018

Characterization of nuclear thyroid hormone receptors of cultured skin fibroblasts from patients with 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=296336

28 July 2018

The steroid and thyroid hormone receptor superfamily

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296336

28 July 2018

The molecular basis of hemophilia A in man.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296336

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296336

28 July 2018

Alternative splicing generates messages encoding rat c-erbA proteins that do not bind thyroid hormone

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296336

28 July 2018

Isolation of a cDNA clone encoding a biologically active thyroid hormone receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296336

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296336

28 July 2018

The c-erb-A protein is a high-affinity receptor for thyroid hormone

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296336

28 July 2018

Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296336

28 July 2018

Expression of three forms of thyroid hormone receptor in human tissues

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296336

28 July 2018

The syndrome of generalized resistance to thyroid hormone (GRTH).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296336

28 July 2018

Mutations of the rat growth hormone promoter which increase and decrease response to thyroid hormone define a consensus thyroid hormone response element

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296336

28 July 2018

Positive and negative regulation of gene transcription by a retinoic acid-thyroid hormone receptor heterodimer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296336

28 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=296336

28 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=296336

28 July 2018

Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296336

28 July 2018

Characterization of a third human thyroid hormone receptor coexpressed with other thyroid hormone receptors in several tissues

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296336

28 July 2018

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296336

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296336

28 July 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296336

28 July 2018

Differential and tissue-specific regulation of the multiple rat c-erbA messenger RNA species by thyroid hormone

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296336

28 July 2018

Neonatal detection of generalized 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=296336

28 July 2018

Serum thyrotropin and prolactin in the syndrome of generalized resistance to thyroid hormone: responses to thyrotropin-releasing hormone stimulation and short term triiodothyronine suppression.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296336

28 July 2018

Structural analysis of human 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=296336

28 July 2018

Abnormalities of Triiodothyronine Binding to Lymphocyte and Fibroblast Nuclei from a Patient with Peripheral Tissue Resistance to Thyroid Hormone Action*

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296336

28 July 2018

Nonlinear (amplified) relationship between nuclear occupancy by triiodothyronine and the appearance rate of hepatic alpha-glycerophosphate dehydrogenase and malic enzyme in the rat

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296336

28 July 2018

Augmentation of pituitary thyrotrophin response to thyrotrophin releasing hormone during subphysiological tri-iodothyroinine therapy in hypothyroidism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296336

28 July 2018

The consequences of inappropriate treatment because of failure to recognize the syndrome of pituitary and peripheral tissue 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=296336

28 October 2018

Defective thyroid hormone feedback regulation in the syndrome of peripheral 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=296336

28 October 2018

A human c-erbA oncogene homologue is closely proximal to the chromosome 17 breakpoint in acute promyelocytic leukemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296336

28 October 2018

Partial resistance to thyroid hormones in a patient with a euthyroid goiter (author's transl)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296336

28 October 2018

Protein encoded by v-erbA functions as a thyroid-hormone receptor antagonist

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296336

28 October 2018

Metabolism of L-Thyroxine (T4) and L-Triiodothyronine (T3) by Human Fibroblasts in Tissue Culture: Evidence for Cellular Binding Proteins and Conversion of T4to T3

1 reference

https://pubmed.ncbi.nlm.nih.gov/1991834

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Thyroid hormone resistance

1 reference

https://pubmed.ncbi.nlm.nih.gov/1991834

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defective thyroid hormone action in fibroblasts cultured from subjects with the syndrome of resistance to thyroid hormones

1 reference

https://pubmed.ncbi.nlm.nih.gov/1991834

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nuclear binding of [125I]triiodothyronine in dispersed cultured skin fibroblasts from patients with resistance to thyroid hormone

1 reference

https://pubmed.ncbi.nlm.nih.gov/1991834

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Peripheral resistance to thyroid hormone in a family: heterogeneity of clinical presentation

1 reference

https://pubmed.ncbi.nlm.nih.gov/1991834

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Non-adenomatous inappropriate TSH hypersecretion and euthyroidism requires no treatment

1 reference

https://pubmed.ncbi.nlm.nih.gov/1991834

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sex hormone-binding globulin in the diagnosis of peripheral tissue resistance to thyroid hormone: the value of changes after short term triiodothyronine administration

1 reference

https://pubmed.ncbi.nlm.nih.gov/1991834

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of the thyroxine-binding globulin (TBG) gene in six unrelated families with complete TBG deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/1991834

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Direct sequencing of the gene for Maryland/German familial amyloidotic polyneuropathy type II and genotyping by allele-specific enzymatic amplification

1 reference

https://pubmed.ncbi.nlm.nih.gov/1991834

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI115023

1 reference

Europe PubMed Central

31 July 2017

1 reference

Europe PubMed Central

31 July 2017

1 reference

Europe PubMed Central

31 July 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=Q34236575&oldid=1577836010"