Clinical Consequences of Variable Results in the Measurement of Free Thyroid Hormones: Unusual Presentation of a Family with a Novel Variant in the THRB Gene Causing Resistance to Thyroid Hormone Syndrome

Autor: Campi I., Agostini M., Marelli F., de Filippis T., Romartinez-Alonso B., Rajanayagam O., Rurale G., Gentile I., Spagnolo F., Andreasi M., Ferraù F., Cannavò S., Fugazzola L., Chatterjee K.V., Persani L.

Introduction: Resistance to thyroid hormone β (RTHβ) is an inherited syndrome caused by dominant negative variants in the THRB gene (NM_000461.5). The clinical picture of RTHβ is variable, and patients harboring the same variant may display differ

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Structural insights into the complex of oncogenic KRas4B ^G12V and Rgl2, a RalA/B activator.

Autor: Tariq M; https://ror.org/04h699437 Department of Molecular and Cell Biology, University of Leicester, Leicester, UK., Ikeya T; https://ror.org/00ws30h19 Department of Chemistry, Tokyo Metropolitan University, Hachioji, Japan., Togashi N; https://ror.org/00ws30h19 Department of Chemistry, Tokyo Metropolitan University, Hachioji, Japan., Fairall L; https://ror.org/04h699437 Department of Molecular and Cell Biology, University of Leicester, Leicester, UK.; https://ror.org/04h699437 Leicester Institute of Structure and Chemical Biology, University of Leicester, Leicester, UK., Kamei S; https://ror.org/00ws30h19 Department of Chemistry, Tokyo Metropolitan University, Hachioji, Japan., Mayooramurugan S; https://ror.org/04h699437 Department of Molecular and Cell Biology, University of Leicester, Leicester, UK., Abbott LR; https://ror.org/04h699437 Department of Molecular and Cell Biology, University of Leicester, Leicester, UK., Hasan A; https://ror.org/04h699437 Department of Molecular and Cell Biology, University of Leicester, Leicester, UK., Bueno-Alejo C; https://ror.org/04h699437 Leicester Institute of Structure and Chemical Biology, University of Leicester, Leicester, UK., Sukegawa S; https://ror.org/00ws30h19 Department of Chemistry, Tokyo Metropolitan University, Hachioji, Japan., Romartinez-Alonso B; https://ror.org/04h699437 Department of Molecular and Cell Biology, University of Leicester, Leicester, UK.; https://ror.org/04h699437 Leicester Institute of Structure and Chemical Biology, University of Leicester, Leicester, UK., Muro Campillo MA; https://ror.org/04h699437 Department of Molecular and Cell Biology, University of Leicester, Leicester, UK., Hudson AJ; https://ror.org/04h699437 Leicester Institute of Structure and Chemical Biology, University of Leicester, Leicester, UK.; https://ror.org/04h699437 Department of Chemistry, University of Leicester, Leicester, UK., Ito Y; https://ror.org/00ws30h19 Department of Chemistry, Tokyo Metropolitan University, Hachioji, Japan., Schwabe JW; https://ror.org/04h699437 Department of Molecular and Cell Biology, University of Leicester, Leicester, UK.; https://ror.org/04h699437 Leicester Institute of Structure and Chemical Biology, University of Leicester, Leicester, UK., Dominguez C; https://ror.org/04h699437 Department of Molecular and Cell Biology, University of Leicester, Leicester, UK.; https://ror.org/04h699437 Leicester Institute of Structure and Chemical Biology, University of Leicester, Leicester, UK., Tanaka K; https://ror.org/04h699437 Department of Molecular and Cell Biology, University of Leicester, Leicester, UK kt96@le.ac.uk.

Publikováno v: Life science alliance [Life Sci Alliance] 2023 Oct 13; Vol. 7 (1). Date of Electronic Publication: 2023 Oct 13 (Print Publication: 2024).