15 Result(s)
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Article
Samuel Refetoff
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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...
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CLINICAL-MOLECULAR CORRELATES IN A MOTHER AND 2 SONS WITH A CONSTITUTIVELY ACTIVATING MUTATION OF THE LUTEINIZING HORMONE (LH) RECEPTOR (LHR). † 569
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NEUROCOGNITIVE STUDIES OF A KINDRED WITH RESISTANCE TO THYROID HORMONE (RTH) REVEAL ABNORMALITIES IN LANGUAGE DECODING SKILLS. † 389
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Resistance to Thyroid Hormone
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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...
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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...
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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...
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Resistance to thyroid hormone: one of several defects causing reduced sensitivity to thyroid hormone
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Generation of functional thyroid from embryonic stem cells
The primary function of the thyroid gland is to metabolize iodide by synthesizing thyroid hormones, which are critical regulators of growth, development and metabolism in almost all tissues. So far, research o...
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Open AccessA new family with an activating mutation (G431S) in the TSH receptor gene: a phenotype discussion and review of the literature
Germline nonautoimmune hyperthyroidism due to an activating mutation in the thyroid stimulating hormone receptor gene is an uncommon disease. To date 32 different mutations have been described. The severity of th...
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A new TRβ mutation in resistance to thyroid hormone syndrome
Thyroid hormones (TH) exert their actions by binding nuclear receptors alpha (TRα1) and beta (TRβ1 and TRβ2). Resistance to thyroid hormone (RTH) is a clinical syndrome with various clinical manifestations, it...
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Interconnection between circadian clocks and thyroid function
Circadian rhythmicity is an approximately 24-h cell-autonomous period driven by transcription–translation feedback loops of specific genes, which are referred to as ‘circadian clock genes’. In mammals, the cen...
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Open AccessTransplantable human thyroid organoids generated from embryonic stem cells to rescue hypothyroidism
The thyroid gland captures iodide in order to synthesize hormones that act on almost all tissues and are essential for normal growth and metabolism. Low plasma levels of thyroid hormones lead to hypothyroidism...
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Open AccessASIC1a affects hypothalamic signaling and regulates the daily rhythm of body temperature in mice
The body temperature of mice is higher at night than during the day. We show here that global deletion of acid-sensing ion channel 1a (ASIC1a) results in lower body temperature during a part of the night. ASIC...
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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...
