{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T19:56:44Z","timestamp":1791143804810,"version":"4.1.0"},"reference-count":30,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2003,4,1]],"date-time":"2003-04-01T00:00:00Z","timestamp":1049155200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2003,4,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>The treatment of choice for pseudo-vitamin D deficiency rickets (PDDR), caused by mutations in the 25-hydroxyvitamin D-1\u03b1-hydroxylase (CYP27B1; 1\u03b1-OHase) gene, is replacement therapy with 1,25(OH)2D3. We have previously engineered an animal model of PDDR by targeted inactivation of the 1\u03b1-OHase gene in mice. Replacement therapy was performed in this model. The 1\u03b1-OHase\u2212\/\u2212 mice and heterozygote controls were treated with 500 pg of 1,25(OH)2D3\/g body weight\/day for 2 weeks, followed by 100 pg of 1,25(OH)2D3\/g body weight\/day for an additional 3 weeks before death at 8 weeks of age. Blood biochemistry analysis revealed that the rescue treatment corrected the hypocalcemia and secondary hyperparathyroidism. The daily injections of 1,25(OH)2D3 induced strong expression of CYP24, the 25-hydroxyvitamin D 24-hydroxylase gene. Bone histology and histomorphometry confirmed that the rickets and osteomalacia were cured. The rescue regimen also restored the biomechanical properties of the bone tissue within normal parameters. These results show that chronic treatment with the active 1,25(OH)2D3 metabolite is effective to rescue the PDDR phenotype of 1\u03b1-OHase mutant mice.<\/jats:p>","DOI":"10.1359\/jbmr.2003.18.4.637","type":"journal-article","created":{"date-parts":[[2006,4,26]],"date-time":"2006-04-26T23:09:09Z","timestamp":1146092949000},"page":"637-643","source":"Crossref","is-referenced-by-count":97,"title":["Rescue of the Pseudo-Vitamin D Deficiency Rickets Phenotype of CYP27B1-Deficient Mice by Treatment With 1,25-Dihydroxyvitamin D3: Biochemical, Histomorphometric, and Biomechanical Analyses"],"prefix":"10.1093","volume":"18","author":[{"given":"Olivier","family":"Dardenne","sequence":"first","affiliation":[{"name":"Genetics Unit, Shriners Hospital for Children, Montreal, Quebec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9","family":"Prud'Homme","sequence":"additional","affiliation":[{"name":"Genetics Unit, Shriners Hospital for Children, Montreal, Quebec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S Adam","family":"Hacking","sequence":"additional","affiliation":[{"name":"Department of Biomedical Engineering, McGill University, Montreal, Quebec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francis H","family":"Glorieux","sequence":"additional","affiliation":[{"name":"Departments of Surgery and Human Genetics, McGill University, Montreal, Quebec, Canada"},{"name":"Genetics Unit, Shriners Hospital for Children, Montreal, Quebec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ren\u00e9","family":"St-Arnaud","sequence":"additional","affiliation":[{"name":"Departments of Surgery and Human Genetics, McGill University, Montreal, Quebec, Canada"},{"name":"Genetics Unit, Shriners Hospital for Children, Montreal, Quebec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2009,12,2]]},"reference":[{"key":"2024013019145359300_bib1","doi-asserted-by":"crossref","first-page":"980","DOI":"10.1056\/NEJM198904133201506","article-title":"The role of the vitamin D endocrine system in health and disease","volume":"320","author":"Reichel","year":"1989","journal-title":"N Engl J Med"},{"key":"2024013019145359300_bib2","first-page":"719","article-title":"Newly identified actions of the vitamin D endocrine system","volume":"13","author":"Walters","year":"1992","journal-title":"Endocr Rev"},{"key":"2024013019145359300_bib3","first-page":"447","volume-title":"Vitamin D","author":"Hewison","year":"1997"},{"key":"2024013019145359300_bib4","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1359\/jbmr.1998.13.3.325","article-title":"The nuclear vitamin D receptor: Biological and molecular regulatory properties revealed","volume":"13","author":"Haussler","year":"1998","journal-title":"J Bone Miner Res"},{"key":"2024013019145359300_bib5","volume-title":"Vitamin D","author":"Feldman","year":"1997"},{"key":"2024013019145359300_bib6","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1007\/PL00009639","article-title":"Human 25-hydroxyvitamin D-1alpha-hydroxylase: Cloning, mutations, and gene expression","volume":"14","author":"Portale","year":"2000","journal-title":"Pediatr Nephrol"},{"key":"2024013019145359300_bib7","first-page":"1154","volume-title":"Endocrinology","author":"St-Arnaud","year":"2000","edition":"4th ed."},{"key":"2024013019145359300_bib8","doi-asserted-by":"crossref","first-page":"976","DOI":"10.1056\/NEJM197811022991803","article-title":"Serum 1, 25-dihydroxyvitamin D levels in normal subjects and in patients with hereditary rickets or bone disease","volume":"299","author":"Scriver","year":"1978","journal-title":"N Engl J Med"},{"key":"2024013019145359300_bib9","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1016\/S0022-3476(81)80952-3","article-title":"Vitamin D dependency: Replacement therapy with calcitriol","volume":"99","author":"Delvin","year":"1981","journal-title":"J Pediatr"},{"key":"2024013019145359300_bib10","doi-asserted-by":"crossref","first-page":"814","DOI":"10.1210\/jcem.74.4.1548347","article-title":"Normal 24-hydroxylation of vitamin D metabolites in patients with vitamin D-dependency rickets type I. 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