{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T21:09:20Z","timestamp":1774645760577,"version":"3.50.1"},"reference-count":16,"publisher":"FapUNIFESP (SciELO)","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq Bras Endocrinol Metab"],"published-print":{"date-parts":[[2008,11]]},"abstract":"<jats:p>Mutations in the vitamin D receptor (VDR) are associated to the hereditary 1,25-dihydroxivitamin D-resistant rickets. The objectives of this work are: search for mutations in the VDR and analyze their functional consequences in four Brazilian children presented with rickets and alopecia. The coding region of the VDR was amplified by PCR e direct sequenced. We identified three mutations: two patients had the same mutation in exon 7 at aminoacid position 259 (p.Q259E); one patient had a mutation in exon 8 at codon 319 (p.G319V) and another one had a mutation in exon 3 leading to a truncated protein at position 73 (p.R73X). Functional studies of the mutant receptors of fibroblast primary culture, from patients' skin biopsy treated with increasing doses of 1,25(OH)2 vitamin D showed that VDR mutants were unable to be properly activated and presented a reduction in 24-hydroxylase expression level.<\/jats:p>","DOI":"10.1590\/s0004-27302008000800007","type":"journal-article","created":{"date-parts":[[2009,1,21]],"date-time":"2009-01-21T17:48:35Z","timestamp":1232560115000},"page":"1244-1251","source":"Crossref","is-referenced-by-count":24,"title":["Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets"],"prefix":"10.1590","volume":"52","author":[{"given":"Luciana Cosentino de","family":"Macedo","sequence":"first","affiliation":[{"name":"Faculty of Medical Science,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernanda Caroline","family":"Soardi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nayla","family":"Ananias","sequence":"additional","affiliation":[{"name":"Faculty of Medical Science,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vera Maria Santoro","family":"Belangero","sequence":"additional","affiliation":[{"name":"Faculty of Medical Science,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sumara Zuazani Pinto","family":"Rigatto","sequence":"additional","affiliation":[{"name":"Faculty of Medical Science,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maricilda Palandi","family":"De-Mello","sequence":"additional","affiliation":[{"name":"State University of Campinas,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L\u00edlia","family":"D'Souza-Li","sequence":"additional","affiliation":[{"name":"Faculty of Medical Science,  Brazil; 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