Associated Papers
Genome-wide association study and polygenic risk prediction of hypothyroidism.
Rand SA et al.
Nature Genetics, 2025
A feasibility study of whole genome germline testing as an adjunct screening tool in a UK general private practice.
Jones AB et al.
Scientific Reports, 2025
Genetic and Functional Studies of Patients with Thyroid Dyshormonogenesis and Defects in the TSH Receptor (TSHR).
Yeste D et al.
International Journal of Molecular Sciences, 2024
Can inactivation mutation in the thyroid stimulating hormone receptor gene and hyperthyroidism coexist?: A case report.
Liu Y et al.
Medicine, 2024
Eighteen-years follow-up of congenital hypothyroidism by TSHR gene p.Arg109Gln and p.Arg450His variants.
Watanabe D et al.
Nagoya Journal of Medical Science, 2023
Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.
Wang T et al.
Ebiomedicine, 2022
Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank.
Jurgens SJ et al.
Nature Genetics, 2022
Analysis of Worldwide Carrier Frequency and Predicted Genetic Prevalence of Autosomal Recessive Congenital Hypothyroidism Based on a General Population Database.
Park KS
Genes, 2021
Update on Neonatal Isolated Hyperthyrotropinemia: A Systematic Review.
Chiesa AE et al.
Frontiers in Endocrinology, 2021
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Role of Thyroid Hormones in Skeletal Development and Bone Maintenance.
Bassett JH et al.
Endocrine Reviews, 2016
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 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
Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants.
Griswold AJ et al.
Molecular Autism, 2015
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 2014
Frequency and clinical implication of the R450H mutation in the thyrotropin receptor gene in the Japanese population detected by Smart Amplification Process 2.
Tsunekawa K et al.
Biomed Research International, 2014
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
New pathogenic thyrotropin receptor mutations decipher differentiated activity switching at a conserved helix 6 motif of family A GPCR.
Biebermann H et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
Genetics and phenomics of hypothyroidism due to TSH resistance.
Persani L et al.
Molecular and Cellular Endocrinology, 2010
TSHR mutations as a cause of congenital hypothyroidism in Japan: a population-based genetic epidemiology study.
Narumi S et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
W546X mutation of the thyrotropin receptor causes subclinical hypothyroidism in various clinical settings.
Locantore P et al.
Clinical Endocrinology, 2007
Syndromes of hormone resistance in the hypothalamic-pituitary-thyroid axis.
Beck-Peccoz P et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2006
A novel mutation in the thyrotropin (thyroid-stimulating hormone) receptor gene in a case of congenital hypothyroidism.
Jeziorowska A et al.
Thyroid : Official Journal of the American Thyroid Association, 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
Genetics of congenital hypothyroidism.
Park SM et al.
Journal of Medical Genetics, 2005
Congenital primary hypothyroidism in a turkish family caused by a homozygous nonsense mutation (R609X) in the thyrotropin receptor gene.
Richter-Unruh A et al.
Thyroid : Official Journal of the American Thyroid Association, 2004
Thyroid development and its disorders: genetics and molecular mechanisms.
De Felice M et al.
Endocrine Reviews, 2004
Premature birth and low birth weight associated with nonautoimmune hyperthyroidism due to an activating thyrotropin receptor gene mutation.
Vaidya B et al.
Clinical Endocrinology, 2004
Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor.
Park SM et al.
Clinical Endocrinology, 2004
An outline of inherited disorders of the thyroid hormone generating system.
Knobel M et al.
Thyroid : Official Journal of the American Thyroid Association, 2003
Resistance to thyrotropin.
Refetoff S
Journal of Endocrinological Investigation, 2003
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
Thyrotropin receptor mutations as a tool to understand thyrotropin receptor action.
Wonerow P et al.
Journal of Molecular Medicine (berlin, Germany), 2001
Novel inactivating missense mutations in the thyrotropin receptor gene in Japanese children with resistance to thyrotropin.
Nagashima T et al.
Thyroid : Official Journal of the American Thyroid Association, 2001
Resistance to thyrotropin (TSH) in three families is not associated with mutations in the TSH receptor or TSH.
Xie J et al.
The Journal of Clinical Endocrinology and Metabolism, 1997
Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH.
Clifton-Bligh RJ et al.
The Journal of Clinical Endocrinology and Metabolism, 1997
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