Associated Papers
Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.
Koç Yekedüz M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Germline Variants in Patients Affected by Both Uveal and Cutaneous Melanoma.
Johansson PA et al.
Pigment Cell & Melanoma Research, 2025
Variation spectra in mild isolated hyperthyrotropinemia: pilot cohort and systematic review.
Ricci V et al.
Frontiers in Endocrinology, 2025
Mutation screening of eight genes and comparison of the clinical data in a Chinese cohort with congenital hypothyroidism.
Li L et al.
Endocrine, 2023
Screening of 23 candidate genes by next-generation sequencing of patients with permanent congenital hypothyroidism: novel variants in TG, TSHR, DUOX2, FOXE1, and SLC26A7.
Acar S et al.
Journal of Endocrinological Investigation, 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
Case Report: Expanding the Digenic Variants Involved in Thyroid Hormone Synthesis-10 New Cases of Congenital Hypothyroidism and a Literature Review.
Yang R et al.
Frontiers in Genetics, 2021
Update on Neonatal Isolated Hyperthyrotropinemia: A Systematic Review.
Chiesa AE et al.
Frontiers in Endocrinology, 2021
Complicated Relationship between Genetic Mutations and Phenotypic Characteristics in Transient and Permanent Congenital Hypothyroidism: Analysis of Pooled Literature Data.
Long W et al.
International Journal of Endocrinology, 2020
DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives
Peters C et al.
European Journal of Endocrinology, 2018
Intracellular Trafficking of Gonadotropin Receptors in Health and Disease.
Ulloa-Aguirre A et al.
Handbook of Experimental Pharmacology, 2018
Mild TSH resistance: Clinical and hormonal features in childhood and adulthood.
Vigone MC et al.
Clinical Endocrinology, 2017
Loss-of-Function Variants in a Hungarian Cohort Reveal Structural Insights on TSH Receptor Maturation and Signaling.
Lábadi Á et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
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
Frequent TSH receptor genetic alterations with variable signaling impairment in a large series of children with nonautoimmune isolated hyperthyrotropinemia.
Calebiro D et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
Small-molecule thyrotropin receptor agonist activates naturally occurring thyrotropin-insensitive mutants and reveals their distinct cyclic adenosine monophosphate signal persistence.
Allen MD 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
Subclinical hypothyroidism in children and adolescents: a wide range of clinical, biochemical, and genetic factors involved.
Rapa A et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 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
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
Structural analysis of leucine-rich-repeat variants in proteins associated with human diseases.
Matsushima N et al.
Cellular and Molecular Life Sciences : Cmls, 2005
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
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
Resistance to thyrotropin.
Refetoff S
Journal of Endocrinological Investigation, 2003
Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism.
Alberti L et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
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
A full biological response to autoantibodies in Graves' disease requires a disulfide-bonded loop in the thyrotropin receptor N terminus homologous to a laminin epidermal growth factor-like domain.
Chen CR et al.
The Journal of Biological Chemistry, 2001
[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
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
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