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    THRA thyroid hormone receptor alpha [ Homo sapiens (human) ]

    Gene ID: 7067, updated on 2-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    RNA Sequencing Reveals a Strong Predominance of THRA Splicing Isoform 2 in the Developing and Adult Human Brain.

    RNA Sequencing Reveals a Strong Predominance of THRA Splicing Isoform 2 in the Developing and Adult Human Brain.
    Graceffo E, Opitz R, Megges M, Krude H, Schuelke M., Free PMC Article

    10/7/2024
    Spatiotemporal expression of thyroid hormone transporter MCT8 and THRA mRNA in human cerebral organoids recapitulating first trimester cortex development.

    Spatiotemporal expression of thyroid hormone transporter MCT8 and THRA mRNA in human cerebral organoids recapitulating first trimester cortex development.
    Graffunder AS, Bresser AAJ, Fernandez Vallone V, Megges M, Stachelscheid H, Kühnen P, Opitz R., Free PMC Article

    04/26/2024
    Thyroid hormone receptor alpha1: a novel regulator of thyroid cancer cell differentiation.

    Thyroid hormone receptor α1: a novel regulator of thyroid cancer cell differentiation.
    Hwang E, Doolittle WKL, Zhu YJ, Zhu X, Zhao L, Yu Y, Cheng SY.

    10/11/2023
    Regulation of the THRA gene, encoding the thyroid hormone nuclear receptor TRalpha1, in intestinal lesions.

    Regulation of the THRA gene, encoding the thyroid hormone nuclear receptor TRα1, in intestinal lesions.
    Giolito MV, La Rosa T, Farhat D, Bodoirat S, Guardia GDA, Domon-Dell C, Galante PAF, Freund JN, Plateroti M., Free PMC Article

    12/17/2022
    Low thyroid hormone receptor alpha-2 (THRalpha-2) tumor expression is associated with unfavorable tumor characteristics and high breast cancer mortality.

    Low thyroid hormone receptor alpha-2 (THRα-2) tumor expression is associated with unfavorable tumor characteristics and high breast cancer mortality.
    Sandsveden M, Borgquist S, Rosendahl AH, Manjer J., Free PMC Article

    03/19/2022
    Germ Line Mutations in the Thyroid Hormone Receptor Alpha Gene Predispose to Cutaneous Tags and Melanocytic Nevi.

    Germ Line Mutations in the Thyroid Hormone Receptor Alpha Gene Predispose to Cutaneous Tags and Melanocytic Nevi.
    Di Cicco E, Moran C, Visser WE, Nappi A, Schoenmakers E, Todd P, Lyons G, Dattani M, Ambrosio R, Parisi S, Salvatore D, Chatterjee K, Dentice M., Free PMC Article

    01/8/2022
    Thyroid hormone receptor alpha1 acts as a new squamous cell lung cancer diagnostic marker and poor prognosis predictor.

    Thyroid hormone receptor α1 acts as a new squamous cell lung cancer diagnostic marker and poor prognosis predictor.
    Mohamed FEZA, Abdelaziz AO, Kasem AH, Ellethy T, Gayyed MF., Free PMC Article

    11/6/2021
    Life Without Thyroid Hormone Receptor.

    Life Without Thyroid Hormone Receptor.
    Shi YB., Free PMC Article

    10/23/2021
    A New Mechanism in THRA Resistance: The First Disease-Associated Variant Leading to an Increased Inhibitory Function of THRA2.

    A New Mechanism in THRA Resistance: The First Disease-Associated Variant Leading to an Increased Inhibitory Function of THRA2.
    Paisdzior S, Knierim E, Kleinau G, Biebermann H, Krude H, Straussberg R, Schuelke M., Free PMC Article

    09/25/2021
    Thyroid Hormone Facilitates in vitro Decidualization of Human Endometrial Stromal Cells via Thyroid Hormone Receptors.

    Thyroid Hormone Facilitates in vitro Decidualization of Human Endometrial Stromal Cells via Thyroid Hormone Receptors.
    Kakita-Kobayashi M, Murata H, Nishigaki A, Hashimoto Y, Komiya S, Tsubokura H, Kido T, Kida N, Tsuzuki-Nakao T, Matsuo Y, Bono H, Hirota K, Okada H.

    01/16/2021
    Alteration of thyroid hormone signaling triggers the diabetes-induced pathological growth, remodeling, and dedifferentiation of podocytes.

    Alteration of thyroid hormone signaling triggers the diabetes-induced pathological growth, remodeling, and dedifferentiation of podocytes.
    Benedetti V, Lavecchia AM, Locatelli M, Brizi V, Corna D, Todeschini M, Novelli R, Benigni A, Zoja C, Remuzzi G, Xinaris C., Free PMC Article

    10/3/2020
    wild-type intranuclear dynamics of acetylation mimic and sumoylation-deficient TRs, whereas the nonacetylation mimic had significantly reduced mobility and transcriptional activity.

    Acetylation modulates thyroid hormone receptor intracellular localization and intranuclear mobility.
    Anyetei-Anum CS, Evans RM, Back AM, Roggero VR, Allison LA., Free PMC Article

    06/6/2020
    results reveal that thyroid hormone receptor alpha1 is required for normal neural progenitor cell proliferation in human cerebral cortical development

    Mutations in thyroid hormone receptor α1 cause premature neurogenesis and progenitor cell depletion in human cortical development.
    Krieger TG, Moran CM, Frangini A, Visser WE, Schoenmakers E, Muntoni F, Clark CA, Gadian D, Chong WK, Kuczynski A, Dattani M, Lyons G, Efthymiadou A, Varga-Khadem F, Simons BD, Chatterjee K, Livesey FJ., Free PMC Article

    05/9/2020
    THRA gene mutations may not be associated with congenital hypothyroidism

    [An analysis of GNAS and THRA gene mutations in children with congenital hypothyroidism].
    Chen XY, Liu Y, Liu JH, Qin XS., Free PMC Article

    07/27/2019
    Thyroid receptors (TRalpha and TRbeta) are major components of the thyroid hormone pathway which is linked to neuronal development.

    Analysis and functional characterization of sequence variations in ligand binding domain of thyroid hormone receptors in autism spectrum disorder (ASD) patients.
    Kalikiri MK, Mamidala MP, Rao AN, Rajesh V.

    07/21/2018
    overview of the clinical features together with the underlying molecular mechanisms in patients with resistance to thyroid hormone due to heterozygous mutations in TRalpha (Review).

    Resistance to Thyroid Hormone due to Heterozygous Mutations in Thyroid Hormone Receptor Alpha.
    van Gucht ALM, Moran C, Meima ME, Visser WE, Chatterjee K, Visser TJ, Peeters RP.

    05/5/2018
    We found that the thyroid hormone receptor (TRalpha 3) has a differential expression profile. Thyroid hormone is critical for normal brain development. Our results showed that there is a possible link between IGF1/IGF1R and the TRalpha 3 and that over expression of IGF1R in RTT cells may be the cause of neurites improvement in neural RTT-derived neurons.

    IGF1 neuronal response in the absence of MECP2 is dependent on TRalpha 3.
    de Souza JS, Carromeu C, Torres LB, Araujo BH, Cugola FR, Maciel RM, Muotri AR, Giannocco G., Free PMC Article

    09/23/2017
    This large case series underlines the variation in the clinical phenotype of RTHalpha patients.

    Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations.
    Demir K, van Gucht AL, Büyükinan M, Çatlı G, Ayhan Y, Baş VN, Dündar B, Özkan B, Meima ME, Visser WE, Peeters RP, Visser TJ.

    07/1/2017
    THRA predominates in multipotent human adipose derived stem cells (hADSC) whereas THRB is expressed at lower levels and is upregulated during hADSC differentiation.

    Ligand Independent and Subtype-Selective Actions of Thyroid Hormone Receptors in Human Adipose Derived Stem Cells.
    Cvoro A, Bajic A, Zhang A, Simon M, Golic I, Sieglaff DH, Maletic-Savatic M, Korac A, Webb P., Free PMC Article

    06/3/2017
    The expression of thyroid receptor alpha is linked to fertility status.

    Thyroid Hormone Receptors Are Differentially Expressed in Granulosa and Cervical Cells of Infertile Women.
    López Navarro E, Ortega FJ, Francisco-Busquets E, Sabater-Masdeu M, Álvarez-Castaño E, Ricart W, Fernández-Real JM.

    12/17/2016
    8 different THRA gene abnormalities have been described in 14 patients from 9 families with phenotypes including short stature, dysmorphic syndrome, psychoneuromotor disorders, constipation and bradycardia. Review.

    TRα receptor mutations extend the spectrum of syndromes of reduced sensitivity to thyroid hormone.
    Vlaeminck-Guillem V, Espiard S, Flamant F, Wémeau JL.

    03/26/2016
    The current study aimed to investigate whether TRs may be specifically expressed in BRCA1 associated cancer cases.

    Thyroid Hormone Receptors Predict Prognosis in BRCA1 Associated Breast Cancer in Opposing Ways.
    Heublein S, Mayr D, Meindl A, Angele M, Gallwas J, Jeschke U, Ditsch N., Free PMC Article

    02/27/2016
    THRA mutations may be more common than expected. In patients with clinical symptoms of mild hypothyreosis without confirmation in endocrine studies, a molecular study of THRA defects is strongly recommended.

    Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA).
    Tylki-Szymańska A, Acuna-Hidalgo R, Krajewska-Walasek M, Lecka-Ambroziak A, Steehouwer M, Gilissen C, Brunner HG, Jurecka A, Różdżyńska-Świątkowska A, Hoischen A, Chrzanowska KH.

    01/16/2016
    Thyroid hormone receptor (TRalpha1) is shown to occur and determine postischemic remodeling and cardiac recovery depending on the availability of TH. [review]

    Translating thyroid hormone effects into clinical practice: the relevance of thyroid hormone receptor α1 in cardiac repair.
    Pantos C, Mourouzis I.

    01/2/2016
    Data suggest thyroid hormone resistance syndrome can be exhibited by patients with heterozygous missense mutation (Ala263Val) in THRA1 and THRA2, isoforms resulting from alternative splicing. [CASE REPORT]

    Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)α1 and TRα2: clinical, biochemical, and genetic analyses of three related patients.
    Moran C, Agostini M, Visser WE, Schoenmakers E, Schoenmakers N, Offiah AC, Poole K, Rajanayagam O, Lyons G, Halsall D, Gurnell M, Chrysis D, Efthymiadou A, Buchanan C, Aylwin S, Chatterjee KK., Free PMC Article

    12/19/2015
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