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Thyroid hormone receptor, beta

THRB, GRTH, Thr1, thyroid hormone receptor beta1, PRTH
The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Mutations in this gene are known to be a cause of generalized thyroid hormone resistance (GTHR), a syndrome characterized by goiter and high levels of circulating thyroid hormone (T3-T4), with normal or slightly elevated thyroid stimulating hormone (TSH). Several alternatively spliced transcript variants encoding the same protein have been observed for this gene. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: ACID, HAD, CAN, V1a, TRbeta
Papers on THRB
Age-related hearing loss and degeneration of cochlear hair cells in mice lacking thyroid hormone receptor β1.
Forrest et al., Boston, United States. In Endocrinology, 04 Sep 2015
UNASSIGNED: A key function of the Thrb gene is in the development of auditory function.
Elucidation of RNA binding regions of gonadotropin-regulated testicular RNA helicase (GRTH/DDX25) to transcripts of a chromatin remodeling protein essential for spermatogenesis.
Dufau et al., In Horm Mol Biol Clin Investig, Jun 2015
BACKGROUND: Gonadotropin-regulated testicular RNA helicase (GRTH) is a testis-specific member of the DEAD-box family of RNA helicases present in Leydig and germ cells.
A Novel Population of Inner Cortical Cells in the Adrenal Gland That Displays Sexually Dimorphic Expression of Thyroid Hormone Receptor-β1.
Forrest et al., Bethesda, United States. In Endocrinology, Jun 2015
Here we identify an inner cortical cell population that expresses thyroid hormone receptor-β1 (TRβ1), one of two receptor isoforms encoded by the Thrb gene.
Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA).
Chrzanowska et al., Warsaw, Poland. In J Med Genet, May 2015
In about 85% of cases, a mutation in THRB, the gene coding for thyroid receptor β (TRβ), is the cause of this disorder.
Two Novel Mutations in the Thyroid Hormone Receptor β in Patients with Resistance to Thyroid Hormone (RTH β): Clinical, Biochemical, and Molecular Data.
de Mello et al., Campinas, Brazil. In Horm Metab Res, Apr 2015
Clinical presentation is variable and the molecular analysis of THRB gene provides a short cut diagnosis.
A case of thyroid hormone resistance: a rare mutation.
Mascarenhas et al., Lisbon, Portugal. In Arq Bras Endocrinol Metabol, Dec 2014
Peripheral blood DNA was extracted from the patient and a mutation was found localized in cluster one, at codon 346 of the ligand binding domain of the THRB gene.
Rare thyroid non-neoplastic diseases.
Maciejewski et al., Poznań, Poland. In Thyroid Res, Dec 2014
Thyroid hormone resistance is most commonly found in THRB gene mutations and more rarely in THRA mutations; in some cases both genes are unchanged (non-TR RTH).
Thyroid hormone receptors and resistance to thyroid hormone disorders.
Wondisford et al., Rio de Janeiro, Brazil. In Nat Rev Endocrinol, Oct 2014
Thyroid hormone action is predominantly mediated by thyroid hormone receptors (THRs), which are encoded by the thyroid hormone receptor α (THRA) and thyroid hormone receptor β (THRB) genes.
Clinical Consequences of Mutations in Thyroid Hormone Receptor-α1.
Peeters et al., Rotterdam, Netherlands. In Eur Thyroid J, Mar 2014
Thyroid hormone (TH) exerts its biological activity via the TH receptors TRα1 and TRβ1/2, which are encoded by the THRA and THRB genes.
Resistance to thyroid hormone.
Szinnai et al., Izumo, Japan. In Endocr Dev, 2013
RTHβ (formerly only RTH) is caused by mutations in the thyroid hormone receptor β gene (THRB).
Differentiated thyroid cancer in patients with resistance to thyroid hormone syndrome. A novel case and a review of the literature.
Soares et al., Porto, Portugal. In Front Mol Biosci, 2013
RTH syndrome was confirmed by the detection of a THRB germline mutation.
Connecting cis-elements and trans-factors with mechanisms of developmental regulation of mRNA translation in meiotic and haploid mammalian spermatogenic cells.
Kleene, Boston, United States. In Reproduction, 2013
As a result, the mechanisms involving well-studied mRNAs (Ddx4/Mvh, Prm1, Prm2, and Sycp3) and factors (DICER1, CPEB1, DAZL, DDX4/MVH, DDX25/GRTH, translin, and ELAV1/HuR) are incompletely understood.
Resistance to thyroid hormone mediated by defective thyroid hormone receptor alpha.
Chatterjee et al., Cambridge, United Kingdom. In Biochim Biophys Acta, 2013
BACKGROUND: Thyroid hormone acts via receptor subtypes (TRα1, TRβ1, TRβ2) with differing tissue distributions, encoded by distinct genes (THRA, THRB).
Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits.
Kullo et al., Rochester, United States. In Mayo Clin Proc, 2012
Genes in the erythroid differentiation and cell cycle regulation pathways influence interindividual variation in RBC indices. Our results provide insights into the molecular basis underlying variation in RBC traits.
Homozygous thyroid hormone receptor β-gene mutations in resistance to thyroid hormone: three new cases and review of the literature.
Refetoff et al., Chicago, United States. In J Clin Endocrinol Metab, 2012
report of three new subjects, from two families, in whom resistance to thyroid hormone was associated with homozygous mutations in the THRB gene; report strengthens the concept that the mutated TRbeta interferes with the function of the TRalpha1 in humans
Androgen-induced activation of gonadotropin-regulated testicular RNA helicase (GRTH/Ddx25) transcription: essential role of a nonclassical androgen response element half-site.
Dufau et al., Bethesda, United States. In Mol Cell Biol, 2012
GRTH regulation by androgen in Leydig cells; molecular mechanism of androgen-regulated transcription
Liganded thyroid hormone receptor inhibits phorbol 12-O-tetradecanoate-13-acetate-induced enhancer activity via firefly luciferase cDNA.
Nakamura et al., Hamamatsu, Japan. In Plos One, 2011
Firefly luciferase cDNA sequence mediates the phorbol 12-O-tetradecanoate-13-acetate-induced transcriptional activity, which is inhibited by thyroid hormone/thyroid hormone receptor.
Role of gonadotropin regulated testicular RNA helicase (GRTH/Ddx25) on polysomal associated mRNAs in mouse testis.
Dufau et al., Bethesda, United States. In Plos One, 2011
Data show the regulatory pathways underlying GRTH action in male reproduction.
A thyroid hormone receptor that is required for the development of green cone photoreceptors.
Forrest et al., New York City, United States. In Nat Genet, 2001
Thyroid hormone receptor beta 2 (TR beta 2) is a ligand-activated transcription factor that is expressed in the outer nuclear layer of the embryonic retina.
Thyroid hormone receptor beta is essential for development of auditory function.
Curran et al., New York City, United States. In Nat Genet, 1996
We demonstrate that Tr beta-deficient (Thrb-/-) mice exhibit a permanent deficit in auditory function across a wide range of frequencies, although they show no other overt neurological defects.
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