(Q46728501)

English

A novel TSHR gene mutation (Ile691Phe) in a Chinese family causing autosomal dominant non-autoimmune hyperthyroidism

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/18306976

A novel TSHR gene mutation (Ile691Phe) in a Chinese family causing autosomal dominant non-autoimmune hyperthyroidism (English)

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/18306976

4

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/18306976

author name string

Zheng Liu

1

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/18306976

Yuanming Sun

2

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/18306976

Qingming Dong

3

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/18306976

Christopher H K Cheng

5

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/18306976

Feiyue Fan

6

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/18306976

publication date

29 February 2008

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Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/18306976

Journal of Human Genetics

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Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/18306976

53

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Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/18306976

5

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/18306976

475-478

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/18306976

https://scigraph.springernature.com/pub.10.1007/s10038-008-0257-3

0 references

Microsatellites and PCR primers for genetic studies and genomic sequencing of the human TSH receptor gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/18306976

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The human thyrotropin receptor is highly mutable: a review of gain-of-function mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/18306976

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18306976

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Somatic and germline mutations of the TSH receptor gene in thyroid diseases.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18306976

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A locus for autosomal dominant accessory auricular anomaly maps to 14q11.2-q12.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18306976

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lysine 183 and glutamic acid 157 of the TSH receptor: two interacting residues with a key role in determining specificity toward TSH and human CG.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18306976

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A familial thyrotropin (TSH) receptor mutation provides in vivo evidence that the inositol phosphates/Ca2+ cascade mediates TSH action on thyroid hormone synthesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/18306976

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas

1 reference

https://pubmed.ncbi.nlm.nih.gov/18306976

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Interactions between the extracellular domain and the extracellular loops as well as the 6th transmembrane domain are necessary for TSH receptor activation

1 reference

https://pubmed.ncbi.nlm.nih.gov/18306976

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetics of congenital hypothyroidism

1 reference

https://pubmed.ncbi.nlm.nih.gov/18306976

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of two fly LGR (leucine-rich repeat-containing, G protein-coupled receptor) proteins homologous to vertebrate glycoprotein hormone receptors: constitutive activation of wild-type fly LGR1 but not LGR2 in transfected mammalian cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/18306976

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10038-008-0257-3

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/18306976

release_j4rtl2c2y5gdzploud37rom6um

1 reference

https://api.fatcat.wiki/v0/release/j4rtl2c2y5gdzploud37rom6um

24 November 2022

based on heuristic

mapped directly with Wikidata item

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/18306976

ResearchGate publication ID

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