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Journal Abstract Search

180 related items for PubMed ID: 28588275

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  • 3. 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; 60(10):504-508. PubMed ID: 28687524
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  • 4. 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; 176(12):2813-2818. PubMed ID: 30365874
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  • 8. MicroRNA-34c-5p Reduces Malignant Properties of Lung Cancer Cells through Regulation of TBL1XR1/Wnt/β-catenin Signaling.
    Lai W, Yue Y, Zeng G.
    Curr Mol Med; 2024 Dec; 24(1):114-122. PubMed ID: 36999182
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  • 11. Genotype and Phenotype Correlations for TBL1XR1 in Neurodevelopmental Disorders.
    Quan Y, Zhang Q, Chen M, Wu H, Ou J, Shen Y, Li K, Xun G, Zhao J, Hu Z, Xia K, Guo H.
    J Mol Neurosci; 2020 Dec; 70(12):2085-2092. PubMed ID: 32524419
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  • 14. Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain.
    Laskowski RA, Tyagi N, Johnson D, Joss S, Kinning E, McWilliam C, Splitt M, Thornton JM, Firth HV, DDD Study, Wright CF.
    Hum Mol Genet; 2016 Mar 01; 25(5):927-35. PubMed ID: 26740553
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  • 16. Transducin (β)-like 1 X-linked receptor 1 promotes gastric cancer progression via the ERK1/2 pathway.
    Zhou Q, Wang X, Yu Z, Wu X, Chen X, Li J, Zhu Z, Liu B, Su L.
    Oncogene; 2017 Mar 30; 36(13):1873-1886. PubMed ID: 27694893
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  • 20. 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 30; 99(6):812-817. PubMed ID: 33527360
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