Associated Papers
Biased signaling in naturally occurring mutations of G protein-coupled receptors associated with diverse human diseases.
Yang LK et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2021
Update on Neonatal Isolated Hyperthyrotropinemia: A Systematic Review.
Chiesa AE et al.
Frontiers in Endocrinology, 2021
Identification of compound heterozygous TSHR mutations (R109Q and R450H) in a patient with nonclassic TSH resistance and functional characterization of the mutant receptors.
Sugisawa C et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2018
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
Thyroid gland: TSHR mutations and subclinical congenital hypothyroidism.
Schoenmakers N et al.
Nature Reviews. Endocrinology, 2015
Long-term outcome of loss-of-function mutations in thyrotropin receptor gene.
Tenenbaum-Rakover Y et al.
Thyroid : Official Journal of the American Thyroid Association, 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
Consecutive mutational events in a TSHR allele of Arab families with resistance to thyroid stimulating hormone.
Sriphrapradang C et al.
Thyroid : Official Journal of the American Thyroid Association, 2012
Molecular description of non-autoimmune hyperthyroidism at a neonate caused by a new thyrotropin receptor germline mutation.
Biebermann H et al.
Thyroid Research, 2011
Nonclassic TSH resistance: TSHR mutation carriers with discrepantly high thyroidal iodine uptake.
Narumi S et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
Genetics and phenomics of hypothyroidism due to TSH resistance.
Persani L et al.
Molecular and Cellular Endocrinology, 2010
Defects of thyroidal hydrogen peroxide generation in congenital hypothyroidism.
Grasberger H
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
Principles and determinants of G-protein coupling by the rhodopsin-like thyrotropin receptor.
Kleinau G et al.
Plos One, 2010
Thyrotropin-stimulating hormone receptor gene analysis in pediatric patients with non-autoimmune subclinical hypothyroidism.
Nicoletti A et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Loss-of-function mutations in the thyrotropin receptor gene as a major determinant of hyperthyrotropinemia in a consanguineous community.
Tenenbaum-Rakover Y et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
A familial thyrotropin (TSH) receptor mutation provides in vivo evidence that the inositol phosphates/Ca2+ cascade mediates TSH action on thyroid hormone synthesis.
Grasberger H et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
Congenital Hypothyroidism Patients With Thyroid Hormone Receptor Variants Are Not Rare: A Systematic Review.
Da DZ et al.
Inquiry : a Journal of Medical Care Organization, Provision and Financing, 0