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  1. No Access

    Article

    Sequence of the variant thyroxine-binding globulin (TBG) in a Montreal family with partial TBG deficiency

    The variant thyroxine-binding globulin in a family from Montreal (TBG-M) has a reduced affinity for thyroxine, shows a slight cathodal shift on isoelectric focusing, and has an increased susceptibility to inac...

    Onno E. Janssen, Kyoko Takeda, Samuel Refetoff in Human Genetics (1991)

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    Article

    Mutations in SECISBP2 result in abnormal thyroid hormone metabolism

    Incorporation of selenocysteine (Sec), through recoding of the UGA stop codon, creates a unique class of proteins. Mice lacking tRNASec die in utero1, but the in vivo role of other components involved in selenopr...

    Alexandra M Dumitrescu, **ao-Hui Liao, Mohamed S Y Abdullah… in Nature Genetics (2005)

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    Article

    Identification of a locus for nongoitrous congenital hypothyroidism on chromosome 15q25.3-26.1

    Permanent congenital hypothyroidism is the most prevalent inborn endocrine disorder, and principally due to developmental defects leading to absent, ectopic or hypoplastic thyroid gland. Although commonly rega...

    Helmut Grasberger, Martine Vaxillaire, Silvana Pannain, John C. Beck… in Human Genetics (2005)

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    Article

    TGB Deficiency: description of two novel mutations associated with complete TBG deficiency and review of the literature

    Thyroxine-binding globulin (TBG) is the main thyroid hormone transport protein in serum. Inherited TBG defects lead to a complete (TBG-CD) or a partial (TBG-PD) deficiency and have a diagenic transmission, bei...

    Deborah Mannavola, Guia Vannucchi, Laura Fugazzola… in Journal of Molecular Medicine (2006)

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    Article

    STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179

    Thyrotropin (TSH) is the master regulator of thyroid gland growth and function. Resistance to TSH (RTSH) describes conditions with reduced sensitivity to TSH. Dominantly inherited RTSH has been linked to a loc...

    Helmut Grasberger, Alexandra M. Dumitrescu, **ao-Hui Liao… in Nature Genetics (2024)