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
The Role of Vitamin D in Parkinson's Disease: Evidence from Serum Concentrations, Supplementation, and VDR Gene Polymorphisms.
Rissardo JP et al.
Neurosci, 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
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
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
Structural aspects of Vitamin D endocrinology.
Rochel N et al.
Molecular and Cellular Endocrinology, 2017
Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia.
Tamura M et al.
Scientific Reports, 2017
Novel screening system for high-affinity ligand of heredity vitamin D-resistant rickets-associated vitamin D receptor mutant R274L using bioluminescent sensor.
Mano H et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2017
Clinical Phenotype in a Toddler with a Novel Heterozygous Mutation of the Vitamin D Receptor.
Brar PC et al.
Case Reports in Endocrinology, 2017
Combined sequence and sequence-structure based methods for analyzing FGF23, CYP24A1 and VDR genes.
Nagamani S et al.
Meta Gene, 2016
Stable expression of human VDR in murine VDR-null cells recapitulates vitamin D mediated anti-cancer signaling.
Keith ME et al.
Molecular Carcinogenesis, 2014
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
Crystal structures of hereditary vitamin D-resistant rickets-associated vitamin D receptor mutants R270L and W282R bound to 1,25-dihydroxyvitamin D3 and synthetic ligands.
Nakabayashi M et al.
Journal of Medicinal Chemistry, 2013
The role of vitamin D receptor mutations in the development of alopecia.
Malloy PJ et al.
Molecular and Cellular Endocrinology, 2011
Report of two unrelated patients with hereditary vitamin D resistant rickets due to the same novel mutation in the vitamin D receptor.
Aljubeh JM et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2011
Genetic disorders and defects in vitamin d action.
Malloy PJ et al.
Endocrinology and Metabolism Clinics of North America, 2010
Inherited disorders of calcium homeostasis.
Ramasamy I
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008
Photocaged agonist for an analogue-specific form of the vitamin D receptor.
Biggins JB et al.
Chembiochem : a European Journal of Chemical Biology, 2007
Alanine scanning mutational analysis of the ligand binding pocket of the human Vitamin D receptor.
Yamamoto K et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2007
Molecular and functional comparison of 1,25-dihydroxyvitamin D(3) and the novel vitamin D receptor ligand, lithocholic acid, in activating transcription of cytochrome P450 3A4.
Jurutka PW et al.
Journal of Cellular Biochemistry, 2005
Hereditary 1,25-dihydroxyvitamin D resistant rickets due to a mutation causing multiple defects in vitamin D receptor function.
Malloy PJ et al.
Endocrinology, 2004
A unique insertion/substitution in helix H1 of the vitamin D receptor ligand binding domain in a patient with hereditary 1,25-dihydroxyvitamin D-resistant rickets.
Malloy PJ et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2004
2 alpha-(3-hydroxypropyl)- and 2 alpha-(3-hydroxypropoxy)-1 alpha,25-dihydroxyvitamin D3 accessible to vitamin D receptor mutant related to hereditary vitamin D-resistant rickets.
Kittaka A et al.
Chemical & Pharmaceutical Bulletin, 2003
Hereditary 1,25-Dihydroxyvitamin D-resistant rickets.
Malloy PJ et al.
Endocrine Development, 2003
Augmenting vitamin D to combat genetic disease.
Peterson BR
Chemistry & Biology, 2002
Structure-based design of selective agonists for a rickets-associated mutant of the vitamin d receptor.
Swann SL et al.
Journal of the American Chemical Society, 2002
A novel mutation in helix 12 of the vitamin D receptor impairs coactivator interaction and causes hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia.
Malloy PJ et al.
Molecular Endocrinology (baltimore, Md.), 2002
Rational design of vitamin D3 analogues which selectively restore activity to a vitamin D receptor mutant associated with rickets.
Swann SL et al.
Organic Letters, 2002
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
A rationale for treatment of hereditary vitamin D-resistant rickets with analogs of 1 alpha,25-dihydroxyvitamin D(3).
Gardezi SA et al.
The Journal of Biological Chemistry, 2001
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
Molecular modeling, affinity labeling, and site-directed mutagenesis define the key points of interaction between the ligand-binding domain of the vitamin D nuclear receptor and 1 alpha,25-dihydroxyvitamin D3.
Swamy N et al.
Biochemistry, 2000
The crystal structure of the nuclear receptor for vitamin D bound to its natural ligand.
Rochel N et al.
Molecular Cell, 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