Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland (Q37369111)

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scientific article published on June 1997

Language	Label	Description	Also known as
English	Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland	scientific article published on June 1997

Statements

scholarly article

1 reference

Europe PubMed Central

20 August 2017

Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland (English)

1 reference

Europe PubMed Central

20 August 2017

congenital disorder

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congenital hypothyroidism

1 reference

based on heuristic

inferred from title

author name string

Abramowicz MJ

1

1 reference

Europe PubMed Central

20 August 2017

Duprez L

2

1 reference

Europe PubMed Central

20 August 2017

Parma J

3

1 reference

Europe PubMed Central

20 August 2017

Vassart G

4

1 reference

Europe PubMed Central

20 August 2017

Heinrichs C

5

1 reference

Europe PubMed Central

20 August 2017

language of work or name

0 references

publication date

1 June 1997

1 reference

Europe PubMed Central

20 August 2017

Journal of Clinical Investigation

1 reference

Europe PubMed Central

20 August 2017

99

1 reference

Europe PubMed Central

20 August 2017

3018-3024

1 reference

Europe PubMed Central

20 August 2017

12

1 reference

Europe PubMed Central

20 August 2017

Engineering human glycoprotein hormone superactive analogues

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508154

6 September 2017

Specific activation of the thyrotropin receptor by trypsin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508154

6 September 2017

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508154

6 September 2017

Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508154

6 September 2017

Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508154

6 September 2017

The thyrotropin (TSH) receptor transmembrane domain mutation (Pro556-Leu) in the hypothyroid hyt/hyt mouse results in plasma membrane targeting but defective TSH binding

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508154

6 September 2017

Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508154

6 September 2017

Cloning, sequencing and expression of the human thyrotropin (TSH) receptor: evidence for binding of autoantibodies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508154

6 September 2017

Molecular cloning, sequence and functional expression of the cDNA for the human thyrotropin receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508154

6 September 2017

Molecular cloning of the thyrotropin receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508154

6 September 2017

Cloning, sequencing and expression of human TSH receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508154

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508154

6 September 2017

Thyroid-specific gene expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508154

14 September 2017

High level transient expression of a chloramphenicol acetyl transferase gene by DEAE-dextran mediated DNA transfection coupled with a dimethyl sulfoxide or glycerol shock treatment.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508154

14 September 2017

Familial unresponsiveness to thyrotropin by autosomal recessive inheritance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508154

28 September 2017

Somatic mutations causing constitutive activity of the thyrotropin receptor are the major cause of hyperfunctioning thyroid adenomas: identification of additional mutations activating both the cyclic adenosine 3',5'-monophosphate and inositol phosph

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508154

28 September 2017

Evidence for negative cooperativity among human thyrotropin receptors overexpressed in mammalian cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508154

26 June 2018

Cloned, stably expressed parathyroid hormone (PTH)/PTH-related peptide receptors activate multiple messenger signals and biological responses in LLC-PK1 kidney cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508154

26 June 2018

Identification of a point mutation in the thyrotropin receptor of the hyt/hyt hypothyroid mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508154

26 June 2018

Substitutions of different regions of the third cytoplasmic loop of the thyrotropin (TSH) receptor have selective effects on constitutive, TSH-, and TSH receptor autoantibody-stimulated phosphoinositide and 3',5'-cyclic adenosine monophosphate signa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508154

26 June 2018

Interpretation of binding curves obtained with high receptor concentrations: practical aid for computer analysis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508154

26 June 2018

Rapid accumulation of inositol trisphosphate reveals that agonists hydrolyse polyphosphoinositides instead of phosphatidylinositol

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508154

26 June 2018

Congenital hypothyroidism with impaired thyroid response to thyrotropin

1 reference

https://pubmed.ncbi.nlm.nih.gov/9185526

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inherited primary hypothyroidism in mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/9185526

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Plasma thyroglobulin measurements help determine the type of thyroid defect in congenital hypothyroidism

1 reference

https://pubmed.ncbi.nlm.nih.gov/9185526

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evaluation and characterization of the hyt/hyt hypothyroid mouse. II. Abnormalities of TSH and the thyroid gland

1 reference

https://pubmed.ncbi.nlm.nih.gov/9185526

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Determination of thyroid volume by ultrasound from the neonatal period to late adolescence

1 reference

https://pubmed.ncbi.nlm.nih.gov/9185526

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Composite structure of the human thyrotropin receptor gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/9185526

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sequence analysis of the thyrotropin (TSH) receptor gene in congenital primary hypothyroidism associated with TSH unresponsiveness

1 reference

https://pubmed.ncbi.nlm.nih.gov/9185526

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Four families with loss of function mutations of the thyrotropin receptor

1 reference

https://pubmed.ncbi.nlm.nih.gov/9185526

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital Hypothyroidism Associated with Thyrotropin Unresponsiveness and Thyroid Cell Membrane Alterations

1 reference

https://pubmed.ncbi.nlm.nih.gov/9185526

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI119497

1 reference

Europe PubMed Central

20 August 2017

1 reference

Europe PubMed Central

20 August 2017

1 reference

Europe PubMed Central

20 August 2017

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