Associated Papers
Genetic Variants Influencing Individual Vitamin D Status.
Karrow NA et al.
Nutrients, 2025
Hereditary disorders of vitamin-D metabolism and its receptor.
Lainis V et al.
Hormones (athens, Greece), 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
Novel Mutation in CYP2R1 Causing Vitamin D-Dependent Rickets Type 1b.
Menon JC et al.
Jcem Case Reports, 2024
Molecular Diagnoses of X-Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program.
Rush ET et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2022
New Variants of the Cytochrome P450 2R1 (CYP2R1) Gene in Individuals with Severe Vitamin D-Activating Enzyme 25(OH)D Deficiency.
Fronczek M et al.
Biomolecules, 2021
25-Hydroxylase vitamin D deficiency in 27 Saudi Arabian subjects: a clinical and molecular report on CYP2R1 mutations.
Bakhamis S et al.
Endocrine Connections, 2021
Two novel CYP2R1 mutations in a family with vitamin D-dependent rickets type 1b.
Ozden A et al.
Endocrine, 2021
The CYP2R1 Enzyme: Structure, Function, Enzymatic Properties and Genetic Polymorphism.
Dong AN et al.
Journal of Pharmacy & Pharmaceutical Sciences : a Publication of the Canadian Society for Pharmaceutical Sciences, Societe Canadienne Des Sciences Pharmaceutiques, 2021
High-depth African genomes inform human migration and health.
Choudhury A et al.
Nature, 2020
Prolonged 25-OH Vitamin D Deficiency Does Not Impair Bone Mineral Density in Adult Patients With Vitamin D 25-Hydroxylase Deficiency (CYP2R1).
Wiedemann A et al.
Calcified Tissue International, 2020
Differential Frequency of CYP2R1 Variants Across Populations Reveals Pathway Selection for Vitamin D Homeostasis.
Casella A et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Genetic variation in GC and CYP2R1 affects 25-hydroxyvitamin D concentration and skeletal parameters: A genome-wide association study in 24-month-old Finnish children.
Kämpe A et al.
Plos Genetics, 2019
A genetic variant of CYP2R1 identified in a cat with type 1B vitamin D-dependent rickets: a case report.
Teshima T et al.
Bmc Veterinary Research, 2019
Genetic Causes of Rickets.
Acar S et al.
Journal of Clinical Research in Pediatric Endocrinology, 2017
CYP2R1 mutations causing vitamin D-deficiency rickets.
Thacher TD et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2017
Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?
Molin A et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2017
CYP2R1 Mutations Impair Generation of 25-hydroxyvitamin D and Cause an Atypical Form of Vitamin D Deficiency.
Thacher TD et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
Triangular relationship between single nucleotide polymorphisms in the CYP2R1 gene (rs10741657 and rs12794714), 25-hydroxyvitamin d levels, and coronary artery disease incidence.
Hassanein SI et al.
Biomarkers : Biochemical Indicators of Exposure, Response, and Susceptibility to Chemicals, 2014
Cytochromes p450: roles in diseases.
Pikuleva IA et al.
The Journal of Biological Chemistry, 2013
Mutation of the CYP2R1 vitamin D 25-hydroxylase in a Saudi Arabian family with severe vitamin D deficiency.
Al Mutair AN et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
Absence of mutation in coding regions of CYP2R1 gene in apparent autosomal dominant vitamin D 25-hydroxylase deficiency rickets.
Tosson H et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
Comprehensive association analysis of nine candidate genes with serum 25-hydroxy vitamin D levels among healthy Caucasian subjects.
Bu FX et al.
Human Genetics, 2010
Inherited disorders of calcium homeostasis.
Ramasamy I
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008
Structural analysis of CYP2R1 in complex with vitamin D3.
Strushkevich N et al.
Journal of Molecular Biology, 2008
Mutational analysis of CYP27A1: assessment of 27-hydroxylation of cholesterol and 25-hydroxylation of vitamin D.
Gupta RP et al.
Metabolism: Clinical and Experimental, 2007
CYP3A4 is a vitamin D-24- and 25-hydroxylase: analysis of structure function by site-directed mutagenesis.
Gupta RP et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
Enzymes involved in the activation and inactivation of vitamin D.
Prosser DE et al.
Trends in Biochemical Sciences, 2004
Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase.
Cheng JB et al.
Proceedings of the National Academy of Sciences of the United States of America, 2004
Vitamin D 25-hydroxylase deficiency.
Dong Q et al.
Molecular Genetics and Metabolism, 0