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within Samuel Refetoff Remove this filter Agriculture Remove this filter Biomedicine, general Remove this filter Gene Function Remove this filter Human Genetics Remove this filter

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  1. No Access

    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)

  2. No Access

    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)