Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10587
Gene Symbol: TXNRD2
TXNRD2
0.100 GeneticVariation disease BEFREE Seventeen patients presented mutations in TRβ (RTHβ); six were non-TR-RTH, three had a diagnosis of FDH with a mutation in ALB, and four were diagnosed with TPA. 30027432 2018
Entrez Id: 10587
Gene Symbol: TXNRD2
TXNRD2
0.100 Biomarker disease BEFREE In particular, the application of 3,3',5-triiodothyroacetic acid (Triac) in RTH due to defective TRβ and the role of 3,5-diiodothyropropionic acid (DITPA), 3,3',5,5'-tetraiodothyroacetic acid (Tetrac) and Triac in MCT8 deficiency will be highlighted. 28235578 2017
Entrez Id: 10587
Gene Symbol: TXNRD2
TXNRD2
0.100 GeneticVariation disease BEFREE Here, we hypothesized that additional pathogenic mutations in TRβ are likely to exist in human population and analysed clinical cases with suspected RTH. 28557707 2017
Entrez Id: 10587
Gene Symbol: TXNRD2
TXNRD2
0.100 GeneticVariation disease BEFREE A new TRβ mutation in resistance to thyroid hormone syndrome. 28222413 2016
Entrez Id: 10587
Gene Symbol: TXNRD2
TXNRD2
0.100 GeneticVariation disease BEFREE TRβ gene mutation is not always correlated with the RTH phenotype. 25502991 2015
Entrez Id: 10587
Gene Symbol: TXNRD2
TXNRD2
0.100 GeneticVariation disease BEFREE Patients diagnosed as RTH with TRβ mutations were enrolled in a single institute between 2004 and 2014. 26041374 2015
Entrez Id: 10587
Gene Symbol: TXNRD2
TXNRD2
0.100 GeneticVariation disease BEFREE Mice with a knock-in mutation in the TRβ gene spontaneously develop TSHomas, although as yet no patient has been reported to have both a TSHoma and RTHβ. 25867808 2015
Entrez Id: 10587
Gene Symbol: TXNRD2
TXNRD2
0.100 GeneticVariation disease BEFREE The aim of the study was to describe the clinical, biochemical, and genetic features of a sample of Mediterranean patients with RTH (resistance to thyroid hormone) due to mutations in TRβ (thyroid hormone receptor beta) referred to our institution during the last 15 years. 24722129 2014
Entrez Id: 10587
Gene Symbol: TXNRD2
TXNRD2
0.100 GeneticVariation disease BEFREE Mice with mutations in the thyroid hormone receptor beta (TRβ) gene that cannot bind steroid receptor coactivator 1 (SRC-1) and Src-1(-/-) mice both have phenotypes similar to that of RTH. 24550004 2014
Entrez Id: 10587
Gene Symbol: TXNRD2
TXNRD2
0.100 GeneticVariation disease BEFREE A 44-year-old Japanese woman with RTH, which was confirmed by the presence of a P453A mutation in the thyroid hormone receptor β (TRβ) gene, showed a slight elevation of the basal levels of thyroid hormones, which indicated that her pituitary RTH was mild. 23240983 2013
Entrez Id: 10587
Gene Symbol: TXNRD2
TXNRD2
0.100 GeneticVariation disease BEFREE We report here an illustrative case of a 29 year-old patient with RTH caused by a mutation in exon 9 (A317T) of TRβ gene, who presented multicentric papillary thyroid cancer. 22460197 2012
Entrez Id: 10587
Gene Symbol: TXNRD2
TXNRD2
0.100 GeneticVariation disease BEFREE Defects in TRβ lead to RTH (resistance to thyroid hormone) β, a syndrome characterized by high levels of thyroid hormone and non-suppressed TSH (thyroid-stimulating hormone). 22220593 2012
Entrez Id: 10587
Gene Symbol: TXNRD2
TXNRD2
0.100 Biomarker disease BEFREE The role of the TRβ was studied in cells from patients with resistance to thyroid hormone (RTH). 20827662 2011
Entrez Id: 10587
Gene Symbol: TXNRD2
TXNRD2
0.100 GeneticVariation disease BEFREE Taken together, these data suggest that the aberrant recruitment of NCOR1 by RTH TRβ mutants leads to clinical RTH in humans. 21987803 2011
Entrez Id: 10587
Gene Symbol: TXNRD2
TXNRD2
0.100 GeneticVariation disease BEFREE She was determined to harbor a missense mutation of M310T in exon 9 of the TR beta gene, and diagnosed with generalized RTH. 20808683 2010
Entrez Id: 10587
Gene Symbol: TXNRD2
TXNRD2
0.100 GeneticVariation disease BEFREE Unlike the TR beta gene, a mutation in the TR alpha1 gene has never been found in patients with resistance to thyroid hormone (RTH). 9685218 1998
Entrez Id: 10587
Gene Symbol: TXNRD2
TXNRD2
0.100 GeneticVariation disease BEFREE Resistance to thyroid hormone (RTH) is an inherited defect manifesting as variable tissue hyporesponsiveness to thyroid hormone, usually caused by mutations in the thyroid hormone receptor beta (TR beta) gene. 9086568 1997
Entrez Id: 10587
Gene Symbol: TXNRD2
TXNRD2
0.100 GeneticVariation disease BEFREE Sequence analysis of the TR beta gene from a patient with the syndrome of resistance to thyroid hormone revealed a novel missense mutation in exon 9, changing thymidine in position 1123 to cytosine. 9086569 1997
Entrez Id: 10587
Gene Symbol: TXNRD2
TXNRD2
0.100 GeneticVariation disease BEFREE To date, all individuals expressing the RTH phenotype have been found to harbor mutations in the thyroid hormone receptor beta (TR beta) gene that impair T3-mediated function. 8954015 1996
Entrez Id: 10587
Gene Symbol: TXNRD2
TXNRD2
0.100 Biomarker disease BEFREE Since similar mutations have been identified in tri-iodothyronine (T3) receptor (TR) beta gene in GRTH and PRTH, and since considerable overlap has been seen in the clinical manifestations in patients with GRTH and PRTH, two subtypes of RTH are now considered to be a continuous spectrum with the same genetic defect. 8958790 1996
Entrez Id: 10587
Gene Symbol: TXNRD2
TXNRD2
0.100 GeneticVariation disease BEFREE Resistance to thyroid hormone (RTH) is a dominantly inherited syndrome characterized by hyposensitivity to thyroid hormone caused by mutations in the thyroid hormone receptor-beta (TR beta) gene. 8838149 1996
Entrez Id: 10587
Gene Symbol: TXNRD2
TXNRD2
0.100 GeneticVariation disease BEFREE Resistance to thyroid hormone (RTH), a syndrome characterized by variable tissue hyposensitivity to thyroid hormone, is linked to mutations in the thyroid hormone receptor-beta (TR beta) gene. 7593433 1995
Entrez Id: 10587
Gene Symbol: TXNRD2
TXNRD2
0.100 GeneticVariation disease BEFREE Mutations in the ligand-binding domain of the thyroid hormone receptor beta (TR beta) gene cause the syndrome of resistance to thyroid hormone (RTH). 8529109 1995
Entrez Id: 10587
Gene Symbol: TXNRD2
TXNRD2
0.100 GeneticVariation disease BEFREE Except for one family, point mutations so far described in RTH are clustered at exons 8-10 of the TR beta gene. 8563471 1995
Entrez Id: 10587
Gene Symbol: TXNRD2
TXNRD2
0.100 Biomarker disease BEFREE We have identified 20 different mutations in the thyroid hormone beta-receptor (TR beta) gene in RTH and assayed mutant receptor properties using the TSH alpha subunit gene promoter or promoters containing three different types of positive thyroid response element (TRE). 7838159 1994