Associated Papers
Structural and functional insights into Vitamin D receptor mutations: An in-silico investigation of polymorphism-induced resistance.
Lohani M et al.
Biophysical Chemistry, 2026
Molecular insights of vitamin D receptor SNPs and vitamin D analogs: a novel therapeutic avenue for vitiligo.
Sundaravel SS et al.
Molecular Diversity, 2025
Genetic Polymorphisms in Cytochrome P450 Enzymes Involved in Vitamin D Metabolism and the Vitamin D Receptor: Their Clinical Relevance.
Jarrar Y et al.
Journal of Personalized Medicine, 2025
Exome Sequencing in Monogenic Forms of Rickets.
Jacob P et al.
Indian Journal of Pediatrics, 2023
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
Recognition of fold- and function-specific sites in the ligand-binding domain of the thyroid hormone receptor-like family.
Verma S et al.
Frontiers in Endocrinology, 2022
Structural and functional insights on vitamin D receptor and CYP24A1 deleterious single nucleotide polymorphisms: A computational and pharmacogenomics perpetual approach.
Jayaraj JM et al.
Cell Biochemistry and Function, 2021
Vitamin D receptor (VDR) non-synonymous single nucleotide polymorphisms (nsSNPs) affect the calcitriol drug response - A theoretical insight.
Muthusamy K et al.
Journal of Molecular Graphics & Modelling, 2018
Tooth Development Associated with Mutations in Hereditary Vitamin D-Resistant Rickets.
Hanna AE et al.
Jdr Clinical and Translational Research, 2018
Transcriptional activation of the wild-type and mutant vitamin D receptors by vitamin D3 analogs.
Futawaka K et al.
Journal of Molecular Endocrinology, 2016
Vitamin D receptor mutations in patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets.
Malloy PJ et al.
Molecular Genetics and Metabolism, 2014
Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets.
Feldman D et al.
Bonekey Reports, 2014
Identification of a novel nonsense mutation in the ligand-binding domain of the vitamin d receptor gene and clinical description of two greek patients with hereditary vitamin d-resistant rickets and alopecia.
Papadopoulou A et al.
Hormone Research in Paediatrics, 2014
Cell-autonomous regulation of brown fat identity gene UCP1 by unliganded vitamin D receptor.
Malloy PJ et al.
Molecular Endocrinology (baltimore, Md.), 2013
Hairless modulates ligand-dependent activation of the vitamin D receptor-retinoid X receptor heterodimer.
Chuma M et al.
Biological & Pharmaceutical Bulletin, 2012
The role of vitamin D receptor mutations in the development of alopecia.
Malloy PJ et al.
Molecular and Cellular Endocrinology, 2011
Genetic disorders and defects in vitamin d action.
Malloy PJ et al.
Endocrinology and Metabolism Clinics of North America, 2010
Presence of a deletion mutation (c.716delA) in the ligand binding domain of the vitamin D receptor in an Indian patient with vitamin D-dependent rickets type II.
Kanakamani J et al.
Calcified Tissue International, 2010
Inherited disorders of calcium homeostasis.
Ramasamy I
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008
Vitamin D-resistant rickets and type 1 diabetes in a child with compound heterozygous mutations of the vitamin D receptor (L263R and R391S): dissociated responses of the CYP-24 and rel-B promoters to 1,25-dihydroxyvitamin D3.
Nguyen M et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2006
Hereditary 1,25-Dihydroxyvitamin D-resistant rickets.
Malloy PJ et al.
Endocrine Development, 2003
Tryptophan missense mutation in the ligand-binding domain of the vitamin D receptor causes severe resistance to 1,25-dihydroxyvitamin D.
Nguyen TM et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2002
The unique tryptophan residue of the vitamin D receptor is critical for ligand binding and transcriptional activation.
Solomon C et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2001
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