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Chunk #44 — HUMAN DISEASES ASSOCIATED WITH GNAS MUTATIONS — Pseudohypoparathyroidism Type-Ia, Pseudopseudohypoparathyroidism, and Progressive Osseous Heteroplasia

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The GNAS Locus: Quintessential Complex Gene Encoding Gsalpha, XLalphas, and other Imprinted Transcripts.
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Because Gsα is not exclusive for PTH signaling, PHP-Ia patients also show resistance to some other hormones whose actions depend on Gsα signaling, including thyroid stimulating hormone (TSH), gonadotropins, and growth hormone releasing hormone (GHRH) [131-135]. It is worth noting that not all hormone actions that rely on Gsα are impaired in PHP-Ia. For example, there is no resistance to vasopressin [136, 137] or to hormones in the hypothalomo-pituitary-adrenal axis [134, 136, 138].