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The \u03b1\u2010subunit of the stimulatory G protein (Gs\u03b1) and extralarge variant (XL\u03b1s) are the two important products of the GNAS locus. The abnormal expression of Gs\u03b1 is associated with pseudohypoparathyroidism (PHP) and related disorders, including Albright hereditary osteodystrophy (AHO), pseudopseudohypoparathyroidism (PPHP), and progressive osseous heteroplasia (POH). XL\u03b1s protein can mimic the catalytic intracellular synthesis of cyclic adenosine monophosphate (cAMP) by Gs\u03b1 in response to parathyroid hormone (PTH) stimulation, which may be involved in the pathogenesis of PPHP and POH in patients with paternal GNAS defects. A paternally inherited nonsense variant in the first exon of\n                    <jats:italic>XL\u03b1s<\/jats:italic>\n                    in an adult patient may be associated with fractures and osteopetrosis. The relationship between the\n                    <jats:italic>XL\u03b1s<\/jats:italic>\n                    product of the GNAS locus and bone remodeling may have been overlooked. Here, we summarize the phenotypes of genetic mouse models and clinical cases of\n                    <jats:italic>XL\u03b1s<\/jats:italic>\n                    variations and suggest that the abnormal paternal expression of\n                    <jats:italic>XL\u03b1s<\/jats:italic>\n                    may be associated with the development of POH and affect osteoblast and osteoclast differentiation.\n                  <\/jats:p>","DOI":"10.1111\/cge.14378","type":"journal-article","created":{"date-parts":[[2023,5,30]],"date-time":"2023-05-30T08:53:18Z","timestamp":1685436798000},"page":"279-286","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["<scp>GNAS<\/scp>\n                    gene mutations affecting\n                    <scp>\n                      <i>XL\u03b1s<\/i>\n                    <\/scp>\n                    and bone health: A long neglected relationship"],"prefix":"10.1111","volume":"104","author":[{"given":"Yanni","family":"Xie","sequence":"first","affiliation":[{"name":"Laboratory of Endocrinology and Metabolism\/Department of Endocrinology and Metabolism, Rare Disease Center West China Hospital, Sichuan University  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8089-3667","authenticated-orcid":false,"given":"Xiang","family":"Chen","sequence":"additional","affiliation":[{"name":"Laboratory of Endocrinology and Metabolism\/Department of Endocrinology and Metabolism, Rare Disease Center West China Hospital, Sichuan University  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying","family":"Xie","sequence":"additional","affiliation":[{"name":"Laboratory of Endocrinology and Metabolism\/Department of Endocrinology and Metabolism, Rare Disease Center West China Hospital, Sichuan University  Chengdu 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