{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T02:25:09Z","timestamp":1785378309896,"version":"3.55.0"},"reference-count":54,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,3,22]],"date-time":"2020-03-22T00:00:00Z","timestamp":1584835200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100010246","name":"Jiangsu Provincial Postdoctoral Science Foundation of China","doi-asserted-by":"publisher","award":["2017M61060"],"award-info":[{"award-number":["2017M61060"]}],"id":[{"id":"10.13039\/501100010246","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81702156"],"award-info":[{"award-number":["81702156"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81770875"],"award-info":[{"award-number":["81770875"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81572639"],"award-info":[{"award-number":["81572639"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81370969"],"award-info":[{"award-number":["81370969"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004829","name":"Science and Technology Department of Sichuan Province","doi-asserted-by":"publisher","award":["2018SZ0142"],"award-info":[{"award-number":["2018SZ0142"]}],"id":[{"id":"10.13039\/501100004829","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    XL\u03b1s, the extra\u2010large isoform of alpha\u2010subunit of the stimulatory guanine nucleotide\u2010binding protein (Gs\u03b1), is paternally expressed. The significance of XL\u03b1s in humans remains largely unknown. Here, we report a patient who presented with increased bone mass, hypophosphatemia, and elevated parathyroid hormone (PTH) levels. His serum calcium was in the lower limit of the normal range. Whole exome sequencing of this subject found a novel non\u2010sense variant c.424G&gt;T (p. G142*) in the first exon of\n                    <jats:italic>XL\u03b1s<\/jats:italic>\n                    , which was inherited from his father and transmitted to his daughter. This variant was predicted to exclusively influence the expression of XL\u03b1s, while possibly having no significant effects on other gene products of this locus. Ellsworth\u2010Howard test revealed normal renal response to PTH in proband. Human SaOS2 cells transfected with mutant\n                    <jats:italic>XL\u03b1s<\/jats:italic>\n                    failed to generate cyclic adenosine monophosphate under PTH stimulation, indicating skeletal resistance to this hormone. This subject showed higher circulating sclerostin, dickkopf1, and osteoprotegerin (OPG) levels, while lower receptor activator of nuclear factor kappa\u2010B ligand\/OPG ratio, leading to reduced bone resorption. Our findings indicate that XL\u03b1s plays a critical role in bone metabolism and\n                    <jats:italic>GNAS<\/jats:italic>\n                    locus should be considered as a candidate gene for high bone mass.\n                  <\/jats:p>","DOI":"10.1111\/cge.13734","type":"journal-article","created":{"date-parts":[[2020,3,11]],"date-time":"2020-03-11T00:56:24Z","timestamp":1583888184000},"page":"712-722","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["A paternally inherited non\u2010sense variant c.424G&gt;T (p.G142*) in the first exon of\n                    <i>XL\u03b1s<\/i>\n                    in an adult patient with hypophosphatemia and osteopetrosis"],"prefix":"10.1111","volume":"97","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8089-3667","authenticated-orcid":false,"given":"Xiang","family":"Chen","sequence":"first","affiliation":[{"name":"Laboratory of Endocrinology and Metabolism, Department of Endocrinology, National Clinical Research Center for Geriatrics, West China Hospital Sichuan University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yang","family":"Meng","sequence":"additional","affiliation":[{"name":"Laboratory of Endocrinology and Metabolism, Department of Endocrinology, National Clinical Research Center for Geriatrics, West China Hospital Sichuan University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mengjia","family":"Tang","sequence":"additional","affiliation":[{"name":"Laboratory of Endocrinology and Metabolism, Department of Endocrinology, National Clinical Research Center for Geriatrics, West China Hospital Sichuan University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Wang","sequence":"additional","affiliation":[{"name":"Laboratory of Endocrinology and Metabolism, Department of Endocrinology, National Clinical Research Center for Geriatrics, West China Hospital Sichuan University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Xie","sequence":"additional","affiliation":[{"name":"Laboratory of Endocrinology and Metabolism, Department of Endocrinology, National Clinical Research Center for Geriatrics, West China Hospital Sichuan University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shan","family":"Wan","sequence":"additional","affiliation":[{"name":"Laboratory of Endocrinology and Metabolism, Department of Endocrinology, National Clinical Research Center for Geriatrics, West China Hospital Sichuan University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haoming","family":"Tian","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, West China Hospital Sichuan University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3504-7664","authenticated-orcid":false,"given":"Xijie","family":"Yu","sequence":"additional","affiliation":[{"name":"Laboratory of Endocrinology and Metabolism, Department of Endocrinology, National Clinical Research Center for Geriatrics, West China Hospital Sichuan University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,3,22]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2016-1725"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22696"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13052-016-0310-3"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41574-018-0042-0"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.071001"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11914-015-0268-x"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2016.52"},{"issue":"10","key":"e_1_2_8_9_1","first-page":"801","article-title":"Catabolic and anabolic actions of parathyroid hormone on the skeleton","volume":"34","author":"Silva BC","year":"2011","journal-title":"J Endocrinol Invest"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.coph.2015.03.005"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007-1645"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.2002.17.9.1667"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00198-011-1806-8"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2011-0566"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2005.03.018"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M111.240150"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1210\/en.2009-0318"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0408268102"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/boneres.2016.35"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.2532"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-109-10-800"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.06174-11"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-1667"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1397"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1210\/me.2002-0054"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M006594200"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1210\/en.2010-1034"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.103"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32346"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.481"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.155.2.3983385"},{"key":"e_1_2_8_33_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00223-012-9665-7"},{"key":"e_1_2_8_34_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0033-1349842"},{"key":"e_1_2_8_35_1","doi-asserted-by":"publisher","DOI":"10.1126\/scisignal.aaa9953"},{"key":"e_1_2_8_36_1","doi-asserted-by":"publisher","DOI":"10.1038\/372804a0"},{"issue":"10","key":"e_1_2_8_37_1","first-page":"4627","article-title":"Galphas transcripts are biallelically expressed in the human kidney cortex: implications for pseudohypoparathyroidism type 1b","volume":"86","author":"Zheng H","year":"2001","journal-title":"J Clin Endocrinol Metab"},{"key":"e_1_2_8_38_1","doi-asserted-by":"publisher","DOI":"10.1172\/jci.insight.125007"},{"key":"e_1_2_8_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2015.05.011"},{"key":"e_1_2_8_40_1","doi-asserted-by":"publisher","DOI":"10.1086\/320117"},{"key":"e_1_2_8_41_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-1497"},{"key":"e_1_2_8_42_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2007.03025.x"},{"key":"e_1_2_8_43_1","doi-asserted-by":"publisher","DOI":"10.2174\/1389450119666180122161503"},{"key":"e_1_2_8_44_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-13-0305"},{"issue":"1","key":"e_1_2_8_45_1","first-page":"251","article-title":"Vertebral fractures and bone mineral density in patients with idiopathic hypoparathyroidism on long\u2010term follow\u2010up","volume":"102","author":"Chawla H","year":"2017","journal-title":"J Clin Endocrinol Metab"},{"key":"e_1_2_8_46_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00198-016-3750-0"},{"key":"e_1_2_8_47_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.84.2.5498"},{"key":"e_1_2_8_48_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.3328"},{"key":"e_1_2_8_49_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.3360"},{"key":"e_1_2_8_50_1","doi-asserted-by":"publisher","DOI":"10.1530\/eje.0.1440263"},{"key":"e_1_2_8_51_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2010-0498"},{"key":"e_1_2_8_52_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-10-0795"},{"key":"e_1_2_8_53_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12812"},{"key":"e_1_2_8_54_1","doi-asserted-by":"publisher","DOI":"10.4274\/jcrpe.v2i3.134"},{"key":"e_1_2_8_55_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12015-013-9436-5"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.13734","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13734","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.13734","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13734","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,6]],"date-time":"2023-09-06T22:26:06Z","timestamp":1694039166000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13734"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,3,22]]},"references-count":54,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2020,5]]}},"alternative-id":["10.1111\/cge.13734"],"URL":"https:\/\/doi.org\/10.1111\/cge.13734","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.13734\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13734\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13734\/v3\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13734\/v3\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13734\/v4\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13734\/v3\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13734\/v3\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13734\/v4\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13734\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13734\/v2\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13734\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13734\/v2\/review1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,3,22]]},"assertion":[{"value":"2019-11-12","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-03-05","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-03-22","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}