Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism. (Q37616856)

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18 March 2020

title

Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism (English)

1 reference

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18 March 2020

4

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18 March 2020

J. Larry Jameson

9

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18 March 2020

Luca Persani

12

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18 March 2020

Paul M Yen

16

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18 March 2020

3

Paolo Beck-Peccoz

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18 March 2020

author name string

Samuel Refetoff

1

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18 March 2020

J H Duncan Bassett

2

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18 March 2020

Gregory Brent

5

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18 March 2020

Krishna Chatterjee

6

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18 March 2020

Leslie J De Groot

7

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18 March 2020

Alexandra M Dumitrescu

8

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18 March 2020

Peter A Kopp

10

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18 March 2020

Yoshiharu Murata

11

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18 March 2020

Jacques Samarut

13

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18 March 2020

Roy E Weiss

14

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18 March 2020

Graham R Williams

15

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18 March 2020

language of work or name

English

0 references

publication date

1 March 2014

1 reference

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The Journal of Clinical Endocrinology and Metabolism

18 March 2020

published in

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18 March 2020

volume

99

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18 March 2020

page(s)

768-770

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18 March 2020

issue

3

1 reference

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Mutations in SECISBP2 result in abnormal thyroid hormone metabolism

18 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3942236

Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3942236

A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3942236

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3942236

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3942236

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3942236

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3942236

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3942236

The syndromes of resistance to thyroid hormone

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3942236

Nomenclature of thyroid hormone receptor beta-gene mutations in resistance to thyroid hormone: consensus statement from the first workshop on thyroid hormone resistance, July 10-11, 1993, Cambridge, United Kingdom

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3942236

A mutation in the thyroid hormone receptor alpha gene.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3942236

Clinical phenotype and mutant TRα1

1 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24823702

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor alpha or beta genes may be due to a defective cofactor

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24823702

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1210/JC.2013-3393

1 reference

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18 March 2020

1 reference

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18 March 2020

1 reference

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