AUTHOR=Yang Wan , Zuo Yiyi , Zhang Nuo , Wang Kangning , Zhang Runze , Chen Ziyi , He Qing 

TITLE=GNAS locus: bone related diseases and mouse models

JOURNAL=Frontiers in Endocrinology

VOLUME=Volume 14 - 2023

YEAR=2023

URL=https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2023.1255864

DOI=10.3389/fendo.2023.1255864

ISSN=1664-2392

ABSTRACT=<p><italic>GNAS</italic>is 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 <italic>GNAS</italic> 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 <italic>GNAS</italic> locus and its associated diseases, researchers have developed a range of mouse models. In this review, we will systematically explore the <italic>GNAS</italic> locus, its related signaling pathways, the bone diseases associated with it, and the mouse models pertinent to these bone diseases.</p>