Associated Papers
Thyrotropin, Hyperthyroidism, and Bone Mass.
Kim SM et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Pharmacoperones as Novel Therapeutics for Diverse Protein Conformational Diseases.
Tao YX et al.
Physiological Reviews, 2018
Next-generation sequencing of NKX2.1, FOXE1, PAX8, NKX2.5, and TSHR in 100 Chinese patients with congenital hypothyroidism and athyreosis.
Wang F et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017
Role of Thyroid Hormones in Skeletal Development and Bone Maintenance.
Bassett JH et al.
Endocrine Reviews, 2016
Mechanisms of action of thyroid hormones in the skeleton.
Wojcicka A et al.
Biochimica Et Biophysica Acta, 2013
Role and Mechanisms of Actions of Thyroid Hormone on the Skeletal Development.
Kim HY et al.
Bone Research, 2013
Non-autoimmune subclinical hypothyroidism due to a mutation in TSH receptor: report on two brothers.
Cerbone M et al.
Italian Journal of Pediatrics, 2013
Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism.
Cangul H et al.
Clinical Endocrinology, 2010
Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.
Tao YX
Pharmacology & Therapeutics, 2006
The W546X mutation of the thyrotropin receptor gene: potential major contributor to thyroid dysfunction in a Caucasian population.
Jordan N et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
[Familial congenital hypothyroidism due to loss of function mutation of the thyrotropin receptor (resistance to thyrotropin)].
Matsushita A et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 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
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
Recent advances in understanding the molecular basis of primary congenital hypothyroidism.
Macchia PE
Molecular Medicine Today, 2000
Thyrotropin receptor mutations in thyroid diseases.
Yen PM
Reviews in Endocrine & Metabolic Disorders, 2000
Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism.
Biebermann H et al.
The Journal of Clinical Endocrinology and Metabolism, 1997
Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland.
Abramowicz MJ et al.
The Journal of Clinical Investigation, 1997
Biology of the congenitally hypothyroid hyt/hyt mouse.
Biesiada E et al.
Advances in Neuroimmunology, 1996
The thyrotropin (TSH) receptor transmembrane domain mutation (Pro556-Leu) in the hypothyroid hyt/hyt mouse results in plasma membrane targeting but defective TSH binding.
Gu WX et al.
Endocrinology, 1995
Identification of a point mutation in the thyrotropin receptor of the hyt/hyt hypothyroid mouse.
Stein SA et al.
Molecular Endocrinology (baltimore, Md.), 1994
The effects of thyroid hormone level and action in developing brain: are these targets for the actions of polychlorinated biphenyls and dioxins?
Sher ES et al.
Toxicology and Industrial Health, 0