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Chapter
Adaptation of 24-Hour Hormonal Patterns and Sleep to Jet Lag
Effects of rapid transmeridian time shifts on behavioral and biological parameters such as vigilance, heart rate, and urinary excretion of electrolytes and corticosteroids have been demonstrated (1, 2, 3). Bec...
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Chapter
A New Form of X-Chromosome Linked TBG Abnormality with No Demonstrable T4-Binding Activity
Diagnostic work-up for short stature uncovered TBG deficiency in an 11 year old girl (propositus) with XO Turner’s syndrome. Studies on members of the family revealed that the two hemizygous affected subjects ...
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Chapter
Thyroid Function Tests in Subjects with a Genetic Isoelectric Focusing Variant TBG
A variant thyroxine-binding globulin (TBG) with slower migration on isoelectric focusing (TBG-S) has been found in some American Blacks. It is inherited as an X-chromosome-linked trait. Hemizygous males with T...
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Chapter
Resistance to Thyroid Hormones and Screening for High Thyroxine at Birth
Resistance to thyroid hormone encompasses a heterogeneous group of conditions characterized by reduced responses of target tissues to a supply of thyroid hormone which under normal circumstances would be exces...
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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...
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Article
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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Article
NEUROCOGNITIVE STUDIES OF A KINDRED WITH RESISTANCE TO THYROID HORMONE (RTH) REVEAL ABNORMALITIES IN LANGUAGE DECODING SKILLS. † 389
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Article
Resistance to Thyroid Hormone
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Chapter
Resistance to Thyroid Hormone in the Absence of Mutations in the Thyroid Hormone Receptor Genes
Resistance to thyroid hormone (RTH) is a syndrome of reduced tissue sensitivity to thyroid hormone. In the majority of subjects, RTH is caused by mutant thyroid hormone receptors (TR) ß molecules that interfer...
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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...
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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...
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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...
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Article
Resistance to thyroid hormone: one of several defects causing reduced sensitivity to thyroid hormone
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Article
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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Article
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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Article
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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Protocol
Human Genetics of Thyroid Hormone Receptor Beta: Resistance to Thyroid Hormone Beta (RTHβ)
Resistance to thyroid hormone beta (RTHβ) is a syndrome characterized by reduced responsiveness of peripheral tissues to thyroid hormone (TH). Affected individuals have consistently high TH levels and non-supp...
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Chapter
Thyroid Hormone Resistance Syndromes
Syndromes with impaired sensitivity to thyroid hormone (TH) include three types of resistance to thyroid hormone (RTH) syndromes (RTHβ, RTHα, and nonTR-RTH) and also include patients with defects in TH transpo...
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Article
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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Article
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...
