GNAS gene mutations affecting XLαs and bone health: A long neglected relationship.
Sign Up to like & getrecommendations! Published in 2023 at "Clinical genetics"
DOI: 10.1111/cge.14378
Abstract: The GNAS locus is an imprinted site. The α-subunit of the stimulatory G protein (Gsα) and extralarge variant (XLαs) are the two important products of the GNAS locus. The abnormal expression of Gsα is associated… read more here.
Keywords: relationship; bone; gene mutations; mutations affecting ... See more keywords
A complex pheotype in a girl with a novel heterozygous missense variant (p.Ile56Phe) of the GNAS gene
Sign Up to like & getrecommendations! Published in 2022 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-022-02252-6
Abstract: Background GNAS is a complex gene that encodes Gsα, a signaling protein that triggers a complex network of pathways. Heterozygous inactivating mutations in Gsα-coding GNAS exons cause hormonal resistance; on the contrary, activating mutations in… read more here.
Keywords: heterozygous missense; gnas gene; function; gene ... See more keywords