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Brief report: A familial thyrotropin (TSH) receptor mutation provides in vivo evidence that the inositol phosphates/Ca2+ cascade mediates TSH action on thyroid hormone synthesis

par Grasberger, Helmut;Van Sande, Jacqueline ;Mahameed, Ahmad Hag-Dahood;Tenenbaum-Rakover, Yardena;Refetoff, Samuel
Référence The Journal of clinical endocrinology and metabolism, 92, 7, page (2816-2820)
Publication Publié, 2007-07

Article révisé par les pairs

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Résumé :

In the human thyroid gland, TSH activates both the cAMP and inositol phosphates (IP) signaling cascades via binding to the TSH receptor (TSHR). Biallelic TSHR loss-of-function mutations cause resistance to TSH, clinically characterized by hyperthyrotropinemia, and normal or reduced thyroid gland volume, thyroid hormone output, and iodine uptake.