{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,5]],"date-time":"2026-09-05T22:52:04Z","timestamp":1788648724050,"version":"build-2803163510"},"reference-count":163,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2021,5,13]],"date-time":"2021-05-13T00:00:00Z","timestamp":1620864000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Calcium (Ca) and Phosphorus (P) hold a leading part in many skeletal and extra-skeletal biological processes. Their tight normal range in serum mirrors their critical role in human well-being. The signalling \u201cvoyage\u201d starts at Calcium Sensing Receptor (CaSR) localized on the surface of the parathyroid glands, which captures the \u201coscillations\u201d of extracellular ionized Ca and transfers the signal downstream. Parathyroid hormone (PTH), Vitamin D, Fibroblast Growth Factor (FGF23) and other receptors or ion-transporters, work synergistically and establish a highly regulated signalling circuit between the bone, kidneys, and intestine to ensure the maintenance of Ca and P homeostasis. Any deviation from this well-orchestrated scheme may result in mild or severe pathologies expressed by biochemical and\/or clinical features. Inherited disorders of Ca and P metabolism are rare. However, delayed diagnosis or misdiagnosis may cost patient\u2019s quality of life or even life expectancy. Unravelling the thread of the molecular pathways involving Ca and P signaling, we can better understand the link between genetic alterations and biochemical and\/or clinical phenotypes and help in diagnosis and early therapeutic intervention.<\/jats:p>","DOI":"10.3390\/genes12050734","type":"journal-article","created":{"date-parts":[[2021,5,13]],"date-time":"2021-05-13T11:10:06Z","timestamp":1620904206000},"page":"734","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":27,"title":["The Molecular Basis of Calcium and Phosphorus Inherited Metabolic Disorders"],"prefix":"10.3390","volume":"12","author":[{"given":"Anna","family":"Papadopoulou","sequence":"first","affiliation":[{"name":"Third Department of Pediatrics, University General Hospital \u201cATTIKON\u201d, Medical School, National and Kapodistrian University of Athens, 124 62 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evangelia","family":"Bountouvi","sequence":"additional","affiliation":[{"name":"Third Department of Pediatrics, University General Hospital \u201cATTIKON\u201d, Medical School, National and Kapodistrian University of Athens, 124 62 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fotini-Eleni","family":"Karachaliou","sequence":"additional","affiliation":[{"name":"Third Department of Pediatrics, University General Hospital \u201cATTIKON\u201d, Medical School, National and Kapodistrian University of Athens, 124 62 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,5,13]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"S23","DOI":"10.2215\/CJN.05910809","article-title":"Calcium metabolism in health and disease","volume":"5","author":"Peacock","year":"2010","journal-title":"Clin. 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