Associated Papers
Digenic Inheritance Mode in Congenital Hypothyroidism Due to Thyroid Dysgenesis: HYPOTYGEN Translational Cohort Study.
Stoupa A et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
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
Utility of systematic TSHR gene testing in adults with hyperthyroidism lacking overt autoimmunity and diffuse uptake on thyroid scintigraphy.
Patel KA et al.
Clinical Endocrinology, 2019
Fanconi-BRCA pathway mutations in childhood T-cell acute lymphoblastic leukemia.
Pouliot GP et al.
Plos One, 2019
Hedgehog pathway mutations drive oncogenic transformation in high-risk T-cell acute lymphoblastic leukemia.
Burns MA et al.
Leukemia, 2018
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
Association of an SNP with intrathymic transcription of TSHR and Graves' disease: a role for defective thymic tolerance.
Colobran R et al.
Human Molecular Genetics, 2011
A family with congenital hypothyroidism caused by a combination of loss-of-function mutations in the thyrotropin receptor and adenylate cyclase-stimulating G alpha-protein subunit genes.
Lado-Abeal J 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
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
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