{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T17:14:18Z","timestamp":1788369258276,"version":"build-2803163510"},"reference-count":30,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T00:00:00Z","timestamp":1788134400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T00:00:00Z","timestamp":1788134400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"DOI":"10.13039\/501100002661","name":"Fonds De La Recherche Scientifique - FNRS","doi-asserted-by":"publisher","award":["1226325N"],"award-info":[{"award-number":["1226325N"]}],"id":[{"id":"10.13039\/501100002661","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100015510","name":"infrastructures en biologie sant\u00e9 et agronomie","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100015510","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR-25-CE17-1624"],"award-info":[{"award-number":["ANR-25-CE17-1624"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["FHU DDS net"],"award-info":[{"award-number":["FHU DDS net"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003130","name":"Fonds Wetenschappelijk Onderzoek","doi-asserted-by":"publisher","award":["VS00125N"],"award-info":[{"award-number":["VS00125N"]}],"id":[{"id":"10.13039\/501100003130","id-type":"DOI","asserted-by":"publisher"}]},{"name":"France Life Imaging","award":["ANR-11-INBS-0006"],"award-info":[{"award-number":["ANR-11-INBS-0006"]}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Dent Res"],"abstract":"<jats:p>\n                    Abnormal enamel mineralization has been reported in genetic conditions associated with hypocalcemia but never with hypercalcemia. In the present study, we report 10 patients from 2 unrelated families in whom hypomineralized enamel co-segregated with hypercalcemia due to a complete deletion or frameshifting premature truncation (p.(Ser18Argfs*2)) of the guanine nucleotide\u2013binding protein (G-protein) subunit \u03b1\n                    <jats:sub>11<\/jats:sub>\n                    (\n                    <jats:italic toggle=\"yes\">GNA11<\/jats:italic>\n                    ) gene. Both\n                    <jats:italic toggle=\"yes\">GNA11<\/jats:italic>\n                    variants were heterozygous and predicted to cause a loss of function of G\u03b1\n                    <jats:sub>11<\/jats:sub>\n                    . Multiproxy imaging analyses of naturally exfoliated primary teeth and clinically extracted permanent teeth from 2 affected patients revealed abnormal enamel mineralization, with constitutive patches of hypomineralization following no set pattern. In parallel, the study of wild-type mouse tooth germs using combined molecular and protein analyses showed\n                    <jats:italic toggle=\"yes\">Gna11<\/jats:italic>\n                    and G\u03b1\n                    <jats:sub>11<\/jats:sub>\n                    protein expression in ameloblasts at the secretion and maturation stages, as well as in odontoblasts, suggesting a role for G\u03b1\n                    <jats:sub>11<\/jats:sub>\n                    in tooth formation. Furthermore, the analysis of a mouse model of Familial Hypocalciuric Hypercalcemia 2 (FHH2) revealed delayed onset of enamel mineralization in the continuously growing incisors and hypomineralized enamel in both incisor and molars of heterozygous (\n                    <jats:italic toggle=\"yes\">Gna11<\/jats:italic>\n                    Tm1b\n                    <jats:sup>+\/\u2212<\/jats:sup>\n                    ) mice, with defects that are very similar to those affecting human FHH2 teeth. In conclusion, our study reveals that abnormal enamel mineralization may occur in association with hypercalcemia due to loss-of-function\n                    <jats:italic toggle=\"yes\">GNA11<\/jats:italic>\n                    mutations, opening a new field of investigation and highlighting the need to include a dentist in the multidisciplinary team in charge of patients with monogenic calcium disorders.\n                  <\/jats:p>","DOI":"10.1177\/00220345261470370","type":"journal-article","created":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T07:39:24Z","timestamp":1788161964000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Abnormal Enamel Mineralization and Hypercalcemia due to\n                    <i>GNA11<\/i>\n                    Variants"],"prefix":"10.1177","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5117-6944","authenticated-orcid":false,"given":"N.","family":"Obtel","sequence":"first","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9, INSERM U1333 Sant\u00e9 Orale, et Plateforme Imagerie du Vivant (PIV), FHU-DDS-net, Dental School, Montrouge, France"},{"name":"AP-HP Services de m\u00e9decine bucco-dentaire, H\u00f4pitaux Universitaires Bretonneau (CRMR phosphore et calcium, fili\u00e8re OSCAR et ERN Bond), Charles Foix, and Henri Mondor (CRMR ORares, fili\u00e8re TeteCou, ERN Cranio), FHU DDS-net, Ile de France, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6948-4726","authenticated-orcid":false,"given":"A.","family":"Le Cabec","sequence":"additional","affiliation":[{"name":"Univ. 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