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The role of vitamin D receptor mutations in the development of alopecia.
Malloy PJ, Feldman D. Malloy PJ, et al. Mol Cell Endocrinol. 2011 Dec 5;347(1-2):90-6. doi: 10.1016/j.mce.2011.05.045. Epub 2011 Jun 13. Mol Cell Endocrinol. 2011. PMID: 21693169 Free PMC article. Review.
Hereditary Vitamin D Resistant Rickets (HVDRR) is a rare disease caused by mutations in the vitamin D receptor (VDR). ...The data indicate that VDR mutations that cause defects in DNA binding, RXR heterodimerization or absence of the VDR cause …
Hereditary Vitamin D Resistant Rickets (HVDRR) is a rare disease caused by mutations in the vitamin D rec …
The combined use of intravenous and oral calcium for the treatment of vitamin D dependent rickets type II (VDDRII).
al-Aqeel A, Ozand P, Sobki S, Sewairi W, Marx S. al-Aqeel A, et al. Clin Endocrinol (Oxf). 1993 Aug;39(2):229-37. doi: 10.1111/j.1365-2265.1993.tb01779.x. Clin Endocrinol (Oxf). 1993. PMID: 8396512 Review.
DESIGN: We studied two patients with vitamin D dependent rickets type II and with absent responses to either high dose calcitriol or to oral calcium alone. ...PATIENTS: Two siblings of consanguineous parents, a girl aged 28 months and a b …
DESIGN: We studied two patients with vitamin D dependent rickets type II and with absent responses …
[Vitamin D receptor and its abnormality in human diseases].
Ozono K. Ozono K. Nihon Rinsho. 1998 Jul;56(7):1892-7. Nihon Rinsho. 1998. PMID: 9702072 Review. Japanese.
The vitamin D receptor(VDR) belongs to the nuclear hormone receptor super-family, and modulates the transcription of target genes in response to 1,25-dihydroxyvitamin D3[1,25(OH)2D3]. ...The human VDR gene has 8 coding exons and 3 alternative 5' noncoding exons span …
The vitamin D receptor(VDR) belongs to the nuclear hormone receptor super-family, and modulates the transcription of target ge …
[Five cases of vitamin D-dependent rickets type II with alopecia].
Arase S, Sadamoto Y, Kuwana R, Watanabe Y, Nakanishi H, Shigemi F, Takeda K, Takeda E. Arase S, et al. Nihon Hifuka Gakkai Zasshi. 1988 Sep;98(10):1029-38. Nihon Hifuka Gakkai Zasshi. 1988. PMID: 3065536 Review. Japanese. No abstract available.