Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.F631C
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TSHR

NM_000369.5:p.F631C

Associated Papers

How genetic errors in GPCRs affect their function: Possible therapeutic strategies.

Stoy H et al.

Genes & Diseases, 2015

26229975 (PubMed )
Supplement: mmc1.docx

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC

Shared sporadic and somatic thyrotropin receptor mutations display more active in vitro activities than familial thyrotropin receptor mutations.

Lueblinghoff J et al.

Thyroid : Official Journal of the American Thyroid Association, 2011

Identification and evaluation of constitutively active thyroid stimulating hormone receptor mutations.

Lado-Abeal J et al.

Methods in Enzymology, 2010

Constitutive activation of G protein-coupled receptors and diseases: insights into mechanisms of activation and therapeutics.

Tao YX

Pharmacology & Therapeutics, 2008

Two novel mutations in the sixth transmembrane segment of the thyrotropin receptor gene causing hyperfunctioning thyroid nodules.

Gozu H et al.

Thyroid : Official Journal of the American Thyroid Association, 2005

Two somatic TSH receptor mutations in a patient with toxic metastasising follicular thyroid carcinoma and non-functional lung metastases.

Führer D et al.

Endocrine-related Cancer, 2003

Biological activity of activating thyroid-stimulating hormone receptor mutants depends on the cellular context.

Fuhrer D et al.

Endocrinology, 2003

The detection of somatic mutations of thyrotropin receptor gene in fine needle biopsy samples from thyroid nodules.

Syrenicz A et al.

Endocrine Regulations, 1999

Screening of thyrotropin receptor mutations by fine-needle aspiration biopsy in autonomous functioning thyroid nodules in multinodular goiters.

Tassi V et al.

Thyroid : Official Journal of the American Thyroid Association, 1999

[Disorders caused by mutations of the thyrotropin receptor].

Kosugi S

Nihon Rinsho. Japanese Journal of Clinical Medicine, 1998

Mutations of thyrotropin receptor isolated from thyroid autonomous functioning adenomas confer TSH-independent growth to thyroid cells.

Porcellini A et al.

Oncogene, 1997

Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic thyroid hyperplasia.

Tonacchera M et al.

The Journal of Clinical Endocrinology and Metabolism, 1996

Ligand-independent hormone secretion.

Laue L

Current Opinion in Pediatrics, 1995

Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty.

Kosugi S et al.

Human Molecular Genetics, 1995

Constitutive activation of cyclic AMP but not phosphatidylinositol signaling caused by four mutations in the 6th transmembrane helix of the human thyrotropin receptor.

Kosugi S et al.

Febs Letters, 1994

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."