Pseudohypoparathyroidism Type Ib (PHP-Ib): PTH-Resistant Hypocalcemia and Hyperphosphatemia Due to Abnormal GNAS Methylation

Jüppner, Harald

doi:10.1007/978-88-470-5376-2_34

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Human Diseases Related To Gnas1

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2023

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“…Most patients with PHP Ib show resistance limited to PTH and TSH but may exhibit occasional signs of AHO. Imprinting of the GNAS locus results in the absence of maternal Gsα expression in renal tissue ( 81 ).…”

Section: Human Diseases Related To Gnasmentioning

confidence: 99%

GNAS locus: bone related diseases and mouse models

Yang,

Zuo,

Zhang

et al. 2023

Front. Endocrinol.

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GNASis a complex locus characterized by multiple transcripts and an imprinting effect. It orchestrates a variety of physiological processes via numerous signaling pathways. Human diseases associated with the GNAS gene encompass fibrous dysplasia (FD), Albright’s Hereditary Osteodystrophy (AHO), parathyroid hormone(PTH) resistance, and Progressive Osseous Heteroplasia (POH), among others. To facilitate the study of the GNAS locus and its associated diseases, researchers have developed a range of mouse models. In this review, we will systematically explore the GNAS locus, its related signaling pathways, the bone diseases associated with it, and the mouse models pertinent to these bone diseases.

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Section: Human Diseases Related To Gnasmentioning

confidence: 99%