Associated Papers
Genotypic Spectrum and its Correlation with Alopecia and Clinical Response in Hereditary Vitamin D Resistant Rickets: Our Experience and Systematic Review.
Dodamani MH et al.
Calcified Tissue International, 2023
Vitamin D-Resistant Rickets and Cinacalcet-One More Favorable Experience.
Nicolescu RC et al.
Frontiers in Pediatrics, 2018
Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets.
Ben Ameur S et al.
Hormone Research in Paediatrics, 2017
A human vitamin D receptor mutation causes rickets and impaired Th1/Th17 responses.
van der Eerden BC et al.
Bone, 2014
Vitamin D receptor mutations in patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets.
Malloy PJ et al.
Molecular Genetics and Metabolism, 2014
The role of the vitamin D receptor and ERp57 in photoprotection by 1α,25-dihydroxyvitamin D3.
Sequeira VB et al.
Molecular Endocrinology (baltimore, Md.), 2012
A conserved lysine in the estrogen receptor DNA binding domain regulates ligand activation profiles at AP-1 sites, possibly by controlling interactions with a modulating repressor.
Uht RM et al.
Nuclear Receptor, 2004
The rapid effects of 1,25-dihydroxyvitamin D3 require the vitamin D receptor and influence 24-hydroxylase activity: studies in human skin fibroblasts bearing vitamin D receptor mutations.
Nguyen TM et al.
The Journal of Biological Chemistry, 2004
Hereditary 1,25-Dihydroxyvitamin D-resistant rickets.
Malloy PJ et al.
Endocrine Development, 2003
Genetic disorders of calcium and phosphorus metabolism.
Root AW
Critical Reviews in Clinical Laboratory Sciences, 2000
The vitamin D receptor and the syndrome of hereditary 1,25-dihydroxyvitamin D-resistant rickets.
Malloy PJ et al.
Endocrine Reviews, 1999
Vitamin D receptors from patients with resistance to 1,25-dihydroxyvitamin D3: point mutations confer reduced transactivation in response to ligand and impaired interaction with the retinoid X receptor heterodimeric partner.
Whitfield GK et al.
Molecular Endocrinology (baltimore, Md.), 1996
[An unusual form of primary vitamin D-resistant rickets with hypocalcemia and autosomal-dominant hereditary transmission: hereditary pseudo-deficiency rickets].
PRADER A et al.
Helvetica Paediatrica Acta, 1961
Select a paper to view details