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Journal Abstract Search

176 related items for PubMed ID: 35416977

  • 1. An animal model for Pierpont syndrome: a mouse bearing the Tbl1xr1Y446C/Y446C mutation.
    Hu Y, Lauffer P, Stewart M, Codner G, Mayerl S, Heuer H, Ng L, Forrest D, van Trotsenburg P, Jongejan A, Fliers E, Hennekam R, Boelen A.
    Hum Mol Genet; 2022 Aug 25; 31(17):2951-2963. PubMed ID: 35416977
    [Abstract] [Full Text] [Related]

  • 2. The role of transducin β-like 1 X-linked receptor 1 (TBL1XR1) in thyroid hormone metabolism and action in mice.
    Hu Y, Falize K, van Trotsenburg ASP, Hennekam R, Fliers E, Bruinstroop E, Boelen A.
    Eur Thyroid J; 2023 Oct 01; 12(5):. PubMed ID: 37458724
    [Abstract] [Full Text] [Related]

  • 3. A specific mutation in TBL1XR1 causes Pierpont syndrome.
    Heinen CA, Jongejan A, Watson PJ, Redeker B, Boelen A, Boudzovitch-Surovtseva O, Forzano F, Hordijk R, Kelley R, Olney AH, Pierpont ME, Schaefer GB, Stewart F, van Trotsenburg AS, Fliers E, Schwabe JW, Hennekam RC.
    J Med Genet; 2016 May 01; 53(5):330-7. PubMed ID: 26769062
    [Abstract] [Full Text] [Related]

  • 4. Analysis of genes differentially expressed in the cortex of mice with the Tbl1xr1Y446C/Y446C variant.
    Hu Y, Lauffer P, Jongejan A, Falize K, Bruinstroop E, van Trotsenburg P, Fliers E, Hennekam RC, Boelen A.
    Gene; 2024 Nov 15; 927():148707. PubMed ID: 38885822
    [Abstract] [Full Text] [Related]

  • 5. Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1.
    Slavotinek A, Pua H, Hodoglugil U, Abadie J, Shieh J, Van Ziffle J, Kvale M, Lee H, Kwok PY, Risch N, Sabbadini M.
    Eur J Med Genet; 2017 Oct 15; 60(10):504-508. PubMed ID: 28687524
    [Abstract] [Full Text] [Related]

  • 6. TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation.
    Lemattre C, Thevenon J, Duffourd Y, Nambot S, Haquet E, Vuadelle B, Genevieve D, Sarda P, Bruel AL, Kuentz P, Wells CF, Faivre L, Willems M.
    Am J Med Genet A; 2018 Dec 15; 176(12):2813-2818. PubMed ID: 30365874
    [Abstract] [Full Text] [Related]

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  • 8. Pierpont syndrome: report of a new patient.
    Kahlert AK, Weidensee S, Mackenroth L, Porrmann J, Rump A, Di Donato N, Schröck E, Tzschach A.
    Clin Dysmorphol; 2017 Oct 15; 26(4):205-208. PubMed ID: 28562391
    [Abstract] [Full Text] [Related]

  • 9. Pathological Interactions Between Mutant Thyroid Hormone Receptors and Corepressors and Their Modulation by a Thyroid Hormone Analogue with Therapeutic Potential.
    Harrus D, Déméné H, Vasquez E, Boulahtouf A, Germain P, Figueira AC, Privalsky ML, Bourguet W, le Maire A.
    Thyroid; 2018 Dec 15; 28(12):1708-1722. PubMed ID: 30235988
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  • 11. Nuclear corepressor and silencing mediator of retinoic and thyroid hormone receptors corepressor expression is incompatible with T(3)-dependent TRH regulation.
    Becker N, Seugnet I, Guissouma H, Dupre SM, Demeneix BA.
    Endocrinology; 2001 Dec 15; 142(12):5321-31. PubMed ID: 11713232
    [Abstract] [Full Text] [Related]

  • 12. Very strong correlation between dominant negative activities of mutant thyroid hormone receptors and their binding avidity for corepressor SMRT.
    Matsushita A, Misawa H, Andoh S, Natsume H, Nishiyama K, Sasaki S, Nakamura H.
    J Endocrinol; 2000 Dec 15; 167(3):493-503. PubMed ID: 11115777
    [Abstract] [Full Text] [Related]

  • 13. Increased homozygosity in the first Hispanic patient with plantar lipomatosis, unusual facies, and developmental delay (Pierpont syndrome): a case report.
    O'Keefe S, Wefuan DT, Humberson JB, Schmidt K, Wiley J.
    J Med Case Rep; 2016 Aug 12; 10(1):223. PubMed ID: 27520388
    [Abstract] [Full Text] [Related]

  • 14. TBL1XR1 associated intellectual disability, a new missense variant with dysmorphic features plus autism: Expanding the phenotypic spectrum.
    Arroyo Carrera I, Fernández-Burriel M, Lapunzina P, Tenorio JA, García Navas VD, Márquez Isidro E.
    Clin Genet; 2021 Jun 12; 99(6):812-817. PubMed ID: 33527360
    [Abstract] [Full Text] [Related]

  • 15. A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndrome.
    Riehmer V, Erger F, Herkenrath P, Seland S, Jackels M, Wiater A, Heller R, Beck BB, Netzer C.
    Am J Med Genet A; 2017 Aug 12; 173(8):2132-2138. PubMed ID: 28574232
    [Abstract] [Full Text] [Related]

  • 16. Plantar lipomatosis, unusual facies, and developmental delay: confirmation of Pierpont syndrome.
    Oudesluijs GG, Hordijk R, Boon M, Sijens PE, Hennekam RC.
    Am J Med Genet A; 2005 Aug 15; 137(1):77-80. PubMed ID: 16007632
    [Abstract] [Full Text] [Related]

  • 17. The nuclear corepressors recognize distinct nuclear receptor complexes.
    Cohen RN, Putney A, Wondisford FE, Hollenberg AN.
    Mol Endocrinol; 2000 Jun 15; 14(6):900-14. PubMed ID: 10847591
    [Abstract] [Full Text] [Related]

  • 18. Determination of nuclear receptor corepressor interactions with the thyroid hormone receptor.
    Makowski A, Brzostek S, Cohen RN, Hollenberg AN.
    Mol Endocrinol; 2003 Feb 15; 17(2):273-86. PubMed ID: 12554754
    [Abstract] [Full Text] [Related]

  • 19. The nuclear receptor corepressors NCoR and SMRT decrease peroxisome proliferator-activated receptor gamma transcriptional activity and repress 3T3-L1 adipogenesis.
    Yu C, Markan K, Temple KA, Deplewski D, Brady MJ, Cohen RN.
    J Biol Chem; 2005 Apr 08; 280(14):13600-5. PubMed ID: 15691842
    [Abstract] [Full Text] [Related]

  • 20. The nuclear corepressor, NCoR, regulates thyroid hormone action in vivo.
    Astapova I, Lee LJ, Morales C, Tauber S, Bilban M, Hollenberg AN.
    Proc Natl Acad Sci U S A; 2008 Dec 09; 105(49):19544-9. PubMed ID: 19052228
    [Abstract] [Full Text] [Related]

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