Varaico: Literature-Extracted Genetic Variants

Gene:TSHR
Variant:p.Y601N
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TSHR

NM_000369.5:p.Y601N

Associated Papers

Mechanisms of thyrotropin receptor-mediated phenotype variability deciphered by gene mutations and M453T-knockin model.

Makkonen K et al.

Jci Insight, 2024

Sensitive Sequencing Analysis Suggests Thyrotropin Receptor and Guanine Nucleotide-Binding Protein G Subunit Alpha as Sole Driver Mutations in Hot Thyroid Nodules.

Stephenson A et al.

Thyroid : Official Journal of the American Thyroid Association, 2020

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

Stoy H et al.

Genes & Diseases, 2015

26229975 (PubMed )
Supplement: mmc1.docx

Three "hotspots" important for adenosine A(2B) receptor activation: a mutational analysis of transmembrane domains 4 and 5 and the second extracellular loop.

Peeters MC et al.

Purinergic Signalling, 2012

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

Genetic defects, thyroid growth and malfunctions of the TSHR in pediatric patients.

Biebermann H et al.

Frontiers in Bioscience (landmark Edition), 2010

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

Structural determinants for g protein activation and selectivity in the second intracellular loop of the thyrotropin receptor.

Neumann S et al.

Endocrinology, 2005

Autonomously functioning thyroid nodules in a former iodine-deficient area commonly harbor gain-of-function mutations in the thyrotropin signaling pathway.

Georgopoulos NA et al.

European Journal of Endocrinology, 2003

Functional significance of the thyrotropin receptor germline polymorphism D727E.

Sykiotis GP et al.

Biochemical and Biophysical Research Communications, 2003

A conserved Asn in TM7 of the thyrotropin receptor is a common requirement for activation by both mutations and its natural agonist.

Claeysen S et al.

Febs Letters, 2002

Thyrotropin receptor mutations as a tool to understand thyrotropin receptor action.

Wonerow P et al.

Journal of Molecular Medicine (berlin, Germany), 2001

The TSH receptor and its role in thyroid disease.

Kopp P

Cellular and Molecular Life Sciences : Cmls, 2001

Substitutions of tyrosine 601 in the human thyrotropin receptor result in increase or loss of basal activation of the cyclic adenosine monophosphate pathway and disrupt coupling to Gq/11.

Arseven OK et al.

Thyroid : Official Journal of the American Thyroid Association, 2000

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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."