Associated Papers
Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease.
Saevarsdottir S et al.
Nature Communications, 2024
The genomic and evolutionary landscapes of anaplastic thyroid carcinoma.
Zeng PYF et al.
Cell Reports, 2024
Mechanisms of thyrotropin receptor-mediated phenotype variability deciphered by gene mutations and M453T-knockin model.
Makkonen K et al.
Jci Insight, 2024
Genomic variation as a marker of response to neoadjuvant therapy in locally advanced rectal cancer.
Douglas JK et al.
Molecular & Cellular Oncology, 2020
Identification and characterization of rare toll-like receptor 3 variants in patients with autoimmune Addison's disease.
Aslaksen S et al.
Journal of Translational Autoimmunity, 2019
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
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
Clinical Significance of Thyroid-Stimulating Hormone Receptor Gene Mutations and/or Sodium-Iodine Symporter Gene Overexpression in Indeterminate Thyroid Fine Needle Biopsies.
Guan H et al.
Frontiers in Endocrinology, 2018
A novel, somatic, transforming mutation in the extracellular domain of Epidermal Growth Factor Receptor identified in myeloproliferative neoplasm.
Casolari DA et al.
Scientific Reports, 2017
Genetics of Thyroid-Stimulating Hormone Receptor-Relevance for Autoimmune Thyroid Disease.
Stefan M et al.
Frontiers in Endocrinology, 2017
Association between TSHR gene polymorphism and the risk of Graves' disease: a meta-analysis.
Qian W et al.
Journal of Biomedical Research, 2016
Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort.
Löf C et al.
Thyroid : Official Journal of the American Thyroid Association, 2016
Is the TSHR D727E polymorphism a genetic predisposition for multinodular goiter in the Turkish population?
Gözü HI et al.
Genetics and Molecular Research : Gmr, 2016
Frequency and effect on serum TSH of phosphodiesterase 8B (PDE8B) gene polymorphisms in patients with sporadic nonautoimmune subclinical hypothyroidism.
Agretti P et al.
Journal of Endocrinological Investigation, 2014
Refined association of TSH receptor susceptibility locus to Graves' disease in the Chinese Han population.
Liu BL et al.
European Journal of Endocrinology, 2014
Replication of association of nine susceptibility loci with Graves' disease in the Chinese Han population.
Du W et al.
International Journal of Clinical and Experimental Medicine, 2014
The Glu727 Allele of Thyroid Stimulating Hormone Receptor Gene is Associated with Osteoporosis.
Liu RD et al.
North American Journal of Medical Sciences, 2012
Association between thyroid stimulating hormone receptor gene intron polymorphisms and autoimmune thyroid disease in a Chinese Han population.
Liu L et al.
Endocrine Journal, 2012
Genetic susceptibility to autoimmune thyroid disease: past, present, and future.
Tomer Y
Thyroid : Official Journal of the American Thyroid Association, 2010
Genetics of thyroid autoimmunity and the role of the TSHR.
Brand OJ et al.
Molecular and Cellular Endocrinology, 2010
Prevalence of mutations in TSHR, GNAS, PRKAR1A and RAS genes in a large series of toxic thyroid adenomas from Galicia, an iodine-deficient area in NW Spain.
Palos-Paz F et al.
European Journal of Endocrinology, 2008
A new silent germline mutation of the TSH receptor: coexpression in a hyperthyroid family member with a second activating somatic mutation.
Gozu HI et al.
Thyroid : Official Journal of the American Thyroid Association, 2008
Effects of serum TSH and FT4 levels and the TSHR-Asp727Glu polymorphism on bone: the Rotterdam Study.
van der Deure WM et al.
Clinical Endocrinology, 2008
The genetic basis of thyroid autoimmunity.
Jacobson EM et al.
Thyroid : Official Journal of the American Thyroid Association, 2007
Genetic variation in thyroid hormone pathway genes; polymorphisms in the TSH receptor and the iodothyronine deiodinases.
Peeters RP et al.
European Journal of Endocrinology, 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
Association of the TSHR gene with Graves' disease: the first disease specific locus.
Dechairo BM et al.
European Journal of Human Genetics : Ejhg, 2005
Lower rate of genomic variation identified in the trans-membrane domain of monoamine sub-class of Human G-Protein Coupled Receptors: the Human GPCR-DB Database.
Wahlestedt C et al.
Bmc Genomics, 2004
Screening of SNPs at 18 positional candidate genes, located within the GD-1 locus on chromosome 14q23-q32, for susceptibility to Graves' disease: a TDT study.
Chistiakov DA et al.
Molecular Genetics and Metabolism, 2004
Thyroid-stimulating hormone receptor and its role in Graves' disease.
Chistiakov DA
Molecular Genetics and Metabolism, 2003
TSH receptor and Gs(alpha) genetic analysis in children with Down's syndrome and subclinical hypothyroidism.
Tonacchera M et al.
Journal of Endocrinological Investigation, 2003
Polymorphisms in thyroid hormone pathway genes are associated with plasma TSH and iodothyronine levels in healthy subjects.
Peeters RP et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Association of Graves' disease with intragenic polymorphism of the thyrotropin receptor gene in a cohort of Singapore patients of multi-ethnic origins.
Ho SC et al.
Thyroid : Official Journal of the American Thyroid Association, 2003
A germline single nucleotide polymorphism at the intracellular domain of the human thyrotropin receptor does not have a major effect on the development of Graves' disease.
Ban Y et al.
Thyroid : Official Journal of the American Thyroid Association, 2002
The polymorphisms of codon 727 and 52 of thyroid-stimulating hormone receptor gene are not associated with mitral valve prolapse syndrome in Taiwan Chinese.
Chou HT et al.
Japanese Heart Journal, 2002
Thyrotropin receptor polymorphisms and thyroid diseases.
Tonacchera M et al.
The Journal of Clinical Endocrinology and Metabolism, 2000
Analysis of the genetic variability of the 1st (CCC/ACC, P52T) and the 10th exons (bp 1012-1704) of the TSH receptor gene in Graves' disease.
Kaczur V et al.
European Journal of Immunogenetics : Official Journal of the British Society for Histocompatibility and Immunogenetics, 2000
Analysis of mutations in exon 1 of the human thyrotropin receptor gene: high frequency of the D36H and P52T polymorphic variants.
Simanainen J et al.
Thyroid : Official Journal of the American Thyroid Association, 1999
Functional analysis of a variant of the thyrotropin receptor gene in a family with Graves' disease.
Gustavsson B et al.
Molecular and Cellular Endocrinology, 1995
Identification and characterization of new variants of three associated SNPs and a microsatellite in the TSH receptor gene which are useful for genetic studies.
Esperante SA et al.
Molecular and Cellular Probes, 0