Associated Papers
Analysis of Worldwide Carrier Frequency and Predicted Genetic Prevalence of Autosomal Recessive Congenital Hypothyroidism Based on a General Population Database.
Park KS
Genes, 2021
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
Current loss-of-function mutations in the thyrotropin receptor gene: when to investigate, clinical effects, and treatment.
Cassio A et al.
Journal of Clinical Research in Pediatric Endocrinology, 2013
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
Genetics and phenomics of hypothyroidism due to TSH resistance.
Persani L et al.
Molecular and Cellular Endocrinology, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
An inactivating mutation within the first extracellular loop of the thyrotropin receptor impedes normal posttranslational maturation of the extracellular domain.
Sura-Trueba S et al.
Endocrinology, 2009
Identification of TSH receptor mutations in three families with resistance to TSH.
Tonacchera M et al.
Clinical Endocrinology, 2007
A fast method to detect cell surface expression of thyrotropin receptor (TSHr): the microchip flow cytometry analysis.
Agretti P et al.
Thyroid : Official Journal of the American Thyroid Association, 2007
Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.
Tao YX
Pharmacology & Therapeutics, 2006
Identification and functional analysis of novel inactivating thyrotropin receptor mutations in patients with thyrotropin resistance.
Tsunekawa K et al.
Thyroid : Official Journal of the American Thyroid Association, 2006
Interactions between the extracellular domain and the extracellular loops as well as the 6th transmembrane domain are necessary for TSH receptor activation.
Neumann S et al.
European Journal of Endocrinology, 2005
Thyroid development and its disorders: genetics and molecular mechanisms.
De Felice M et al.
Endocrine Reviews, 2004
Premature birth and low birth weight associated with nonautoimmune hyperthyroidism due to an activating thyrotropin receptor gene mutation.
Vaidya B et al.
Clinical Endocrinology, 2004
Proper targeting and activity of a nonfunctioning thyroid-stimulating hormone receptor (TSHr) combining an inactivating and activating TSHr mutation in one receptor.
Agretti P et al.
European Journal of Biochemistry, 2003
Resistance to thyrotropin.
Refetoff S
Journal of Endocrinological Investigation, 2003
A Novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure.
Doherty E et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
The TSH receptor and its role in thyroid disease.
Kopp P
Cellular and Molecular Life Sciences : Cmls, 2001
Novel inactivating missense mutations in the thyrotropin receptor gene in Japanese children with resistance to thyrotropin.
Nagashima T et al.
Thyroid : Official Journal of the American Thyroid Association, 2001
Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin: evidence for a new inactivating mutation of the TSH receptor gene.
Tonacchera M et al.
The Journal of Clinical Endocrinology and Metabolism, 2000
[Pharmacological chaperones: a potential therapeutic treatment for conformational diseases].
Mendre C et al.
Medecine Sciences : M/s, 0