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
Clinical and Laboratory Characteristics of Patients with Genetic Rickets: A Single-Center Experience with Long-Term Outcomes.
Köprülü Ö et al.
Turkish Archives of Pediatrics, 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
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Clinical characteristics and long-term management for patients with vitamin D-dependent rickets type II: a retrospective study at a single center in Saudi Arabia.
Alsagheir A et al.
Frontiers in Endocrinology, 2024
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 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
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
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
A novel mutation in the VDR gene in hereditary vitamin D-resistant rickets.
Arita K et al.
The British Journal of Dermatology, 2008
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