Associated Papers
Thyrotropin Receptor p.N432D Retained Variant Is Degraded Through an Alternative Lysosomal/Autophagosomal Pathway and Can Be Functionally Rescued by Chemical Chaperones.
Grassi ES et al.
Thyroid : Official Journal of the American Thyroid Association, 2021
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
26229975 (PubMed )
Supplement: mmc1.docx
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
Genetics and phenomics of hypothyroidism due to TSH resistance.
Persani L et al.
Molecular and Cellular Endocrinology, 2010
Genetic defects, thyroid growth and malfunctions of the TSHR in pediatric patients.
Biebermann H et al.
Frontiers in Bioscience (landmark Edition), 2010
Functional studies of new TSH receptor (TSHr) mutations identified in patients affected by hypothyroidism or isolated hyperthyrotrophinaemia.
De Marco G et al.
Clinical Endocrinology, 2009
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
Clinical significance of heterozygous carriers associated with compensated hypothyroidism in R450H, a common inactivating mutation of the thyrotropin receptor gene in Japanese.
Kanda K et al.
Endocrine, 2006
Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.
Tao YX
Pharmacology & Therapeutics, 2006
Thyrotropin receptor gene mutations and TSH resistance: variable expressivity in the heterozygotes.
Camilot M et al.
Clinical Endocrinology, 2005
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