Associated Papers
Complicated Relationship between Genetic Mutations and Phenotypic Characteristics in Transient and Permanent Congenital Hypothyroidism: Analysis of Pooled Literature Data.
Long W et al.
International Journal of Endocrinology, 2020
Intracellular Trafficking of Gonadotropin Receptors in Health and Disease.
Ulloa-Aguirre A et al.
Handbook of Experimental Pharmacology, 2018
Mild TSH resistance: Clinical and hormonal features in childhood and adulthood.
Vigone MC et al.
Clinical Endocrinology, 2017
DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population.
Park KJ et al.
Annals of Laboratory Medicine, 2016
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
Frequent TSH receptor genetic alterations with variable signaling impairment in a large series of children with nonautoimmune isolated hyperthyrotropinemia.
Calebiro D et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
Small-molecule thyrotropin receptor agonist activates naturally occurring thyrotropin-insensitive mutants and reveals their distinct cyclic adenosine monophosphate signal persistence.
Allen MD et al.
Thyroid : Official Journal of the American Thyroid Association, 2011
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
Syndromes of hormone resistance in the hypothalamic-pituitary-thyroid axis.
Beck-Peccoz P et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2006
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
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
Intracellular entrapment of wild-type TSH receptor by oligomerization with mutants linked to dominant TSH resistance.
Calebiro D et al.
Human Molecular Genetics, 2005
Thyrotropin receptor gene mutations and TSH resistance: variable expressivity in the heterozygotes.
Camilot M et al.
Clinical Endocrinology, 2005
Thyrotropin receptor-associated diseases: from adenomata to Graves disease.
Davies TF et al.
The Journal of Clinical Investigation, 2005
Thyroid development and its disorders: genetics and molecular mechanisms.
De Felice M et al.
Endocrine Reviews, 2004
The thyrotropin receptor mutation database: update 2003.
Führer D et al.
Thyroid : Official Journal of the American Thyroid Association, 2003
Resistance to thyrotropin.
Refetoff S
Journal of Endocrinological Investigation, 2003
Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism.
Alberti L et al.
The Journal of Clinical Endocrinology and Metabolism, 2002