Associated Papers
Germline Whole-Exome Sequencing in Non-Smoker Lung Cancer Patients Reveals Pathogenic Variants in Lung Cancer Driver Genes.
Carapezza G et al.
Genes, Chromosomes & Cancer, 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
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
Can inactivation mutation in the thyroid stimulating hormone receptor gene and hyperthyroidism coexist?: A case report.
Liu Y et al.
Medicine, 2024
"De novo replication repair deficient glioblastoma, IDH-wildtype" is a distinct glioblastoma subtype in adults that may benefit from immune checkpoint blockade.
Hadad S et al.
Acta Neuropathologica, 2023
Analysis of Worldwide Carrier Frequency and Predicted Genetic Prevalence of Autosomal Recessive Congenital Hypothyroidism Based on a General Population Database.
Park KS
Genes, 2021
GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer.
Zhou W et al.
Nature Communications, 2020
Association between monoallelic TSHR mutations and congenital hypothyroidism: a statistical approach.
Abe K et al.
European Journal of Endocrinology, 2018
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
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
TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis.
Cangul H et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2012
Deep sequencing of gastric carcinoma reveals somatic mutations relevant to personalized medicine.
Holbrook JD et al.
Journal of Translational Medicine, 2011
Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism.
Cangul H et al.
Clinical Endocrinology, 2010
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
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
Implementation of a congenital hypothyroidism newborn screening procedure with mutation detection on genomic DNA extracted from blood spots: the experience of the Italian northeastern reference center.
Camilot M et al.
Genetic Testing, 2007
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
Thyrotropin receptor gene mutations and TSH resistance: variable expressivity in the heterozygotes.
Camilot M et al.
Clinical Endocrinology, 2005
Thyroid development and its disorders: genetics and molecular mechanisms.
De Felice M et al.
Endocrine Reviews, 2004
Analysis of the PAX8 gene in congenital hypothyroidism caused by different forms of thyroid dysgenesis in a father and daughter.
Bereket A et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 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
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
Dyshormonogenic hypothyroidism with normal neurological development, unexplained short stature and facial anomalies in three siblings.
Vakili R et al.
Clinical Dysmorphology, 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
The TSH receptor and its role in thyroid disease.
Kopp P
Cellular and Molecular Life Sciences : Cmls, 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
Two novel polymorphisms g.1715G>A (A496T) and g.1838G>A (3'UTR), and the g.1548G>A (E469K) variant in the intercellular adhesion molecule 1 (ICAM1) gene: Distribution in the Japanese and European American populations.
Iwao M et al.
Human Mutation, 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
Structure-function relationships of two loss-of-function mutations of the thyrotropin receptor gene.
Costagliola S et al.
Thyroid : Official Journal of the American Thyroid Association, 1999
[Disorders caused by mutations of the thyrotropin receptor].
Kosugi S
Nihon Rinsho. Japanese Journal of Clinical Medicine, 1998
Apparent congenital athyreosis contrasting with normal plasma thyroglobulin levels and associated with inactivating mutations in the thyrotropin receptor gene: are athyreosis and ectopic thyroid distinct entities?
Gagné N et al.
The Journal of Clinical Endocrinology and Metabolism, 1998
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
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