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
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
Combined sequence and sequence-structure based methods for analyzing FGF23, CYP24A1 and VDR genes.
Nagamani S et al.
Meta Gene, 2016
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
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
The role of vitamin D receptor mutations in the development of alopecia.
Malloy PJ et al.
Molecular and Cellular Endocrinology, 2011
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
Protein interactions in human genetic diseases.
Schuster-Böckler B et al.
Genome Biology, 2008
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
Hereditary 1,25-Dihydroxyvitamin D-resistant rickets.
Malloy PJ et al.
Endocrine Development, 2003
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
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 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