Research graph
References from Study of biallelic variants in CYP2R1 causing vitamin D hydroxylation deficiency rickets type 1B. Local targets link to admitted publications; unresolved targets remain external evidence.
Genetic variants influencing individual vitamin D status
10.3390/nu17162673 · 2025 · External reference
Research on vitamin D metabolic regulation in the pathogenesis of related diseases
10.3389/fendo.2026.1762302 · 2026 · External reference
The crystal structure of the nuclear receptor for vitamin D bound to its natural ligand
10.1016/s1097-2765(00)80413-x · 2000 · External reference
Vitamin D: metabolism, molecular mechanism of action, and pleiotropic effects
10.1152/physrev.00014.2015 · 2016 · External reference
Vitamin D deficiency or resistance and hypophosphatemia
10.1016/j.beem.2024.101876 · 2024 · External reference
An overview of rickets in children
10.1016/j.ekir.2020.03.025 · 2020 · External reference
Hereditary disorders of vitamin-D metabolism and its receptor
10.1007/s42000-025-00630-w · 2025 · External reference
Nosology of genetic skeletal disorders: 2023 revision
10.1002/ajmg.a.63132 · 2023 · External reference
Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase
10.1073/pnas.0402490101 · 2004 · External reference
SINE-VNTR-Aluretrotransposoninsertion as anovel mutational event underlying Glanzmann thrombasthenia
10.1016/j.jtha.2023.08.012 · 2023 · External reference
Genome analysis and knowledge-driven variant interpretation with TGex
2019 · External reference
Associations between longitudinal maternal and cord blood vitamin D status and child growth trajectories up to 4 years of age
10.3390/nu16152410 · 2024 · External reference
Comparative analysis of nutritional guidelines for vitamin D
10.1038/nrendo.2017.31 · 2017 · External reference
CYP2R1 mutations impair generation of 25-hydroxyvitamin D and cause an atypical form of vitamin D deficiency
10.1210/jc.2015-1746 · 2015 · External reference
Height and weight standardized growth charts for Chinese children and adolescents aged 0 to 18 years
2009 · External reference
The CYP2R1 enzyme: structure, function, enzymatic properties and genetic polymorphism
10.18433/jpps31305 · 2021 · External reference
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
10.1038/gim.2015.30 · 2015 · External reference
Endoplasmic reticulum stress in liver diseases
10.1002/hep.32562 · 2023 · External reference
Endoplasmic reticulum stress at the forefront of fatty liver diseases and cancer
10.1016/j.pharmr.2025.100096 · 2025 · External reference
Mutation of the CYP2R1 vitamin D 25-hydroxylase in a Saudi Arabian family with severe vitamin D deficiency
10.1210/jc.2012-1340 · 2012 · External reference
CYP2R1 mutations causing vitamin D-deficiency rickets
10.1016/j.jsbmb.2016.07.014 · 2017 · External reference
Clinical presentation and molecular genetic analysis of a Sudanese family with a novel mutation in the CYP2R1 gene
10.1016/j.gene.2022.146809 · 2022 · External reference
Novel mutation in CYP2R1 causing vitamin D-dependent rickets type 1b
2024 · External reference
Two novel CYP2R1 mutations in a family with vitamin D-dependent rickets type 1b
10.1007/s12020-021-02670-9 · 2021 · External reference
25-hydroxylase vitamin D deficiency in 27 Saudi Arabian subjects: a clinical and molecular report on CYP2R1 mutations
10.1530/ec-21-0102 · 2021 · External reference
Exome sequencing in monogenic forms of rickets
10.1007/s12098-022-04393-9 · 2023 · External reference
Vitamin D-dependent rickets type 1B (25-hydroxylase deficiency): a rare condition or a misdiagnosed condition?
10.1002/jbmr.3181 · 2017 · External reference
Translation-coupled mRNA quality control mechanisms
10.15252/embj.2023114378 · 2023 · External reference
The role of endoplasmic reticulum stress in human pathology
10.1146/annurev-pathol-012513-104649 · 2015 · External reference
Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines
10.1002/humu.24088 · 2020 · External reference
Reclassification of variants of uncertain significance in type I collagen genes: a national reference laboratory experience
10.1136/jmg-2025-111334 · 2026 · External reference
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
10.1186/s13073-019-0690-2 · 2019 · External reference
Standardizing vitamin D assays: the way forward
10.1002/jbmr.2252 · 2014 · External reference
10 years of 25-hydroxyvitamin-D testing by LC-MS/MS-trends in vitamin-D deficiency and sufficiency
10.1016/j.bonr.2018.05.003 · 2018 · External reference
Vitamin D: marker, measurand & measurement
10.1530/ec-22-0269 · 2023 · External reference
Global consensus recommendations on prevention and Management of Nutritional Rickets
10.1210/jc.2015-2175 · 2016 · External reference
Mechanisms linking cytoplasmic decay of translation-defective mRNA to transcriptional adaptation
10.1126/science.aea1272 · 2026 · External reference
Endoplasmic reticulum stress and lipids in health and diseases
10.1016/j.plipres.2022.101198 · 2023 · External reference
Vitamin D metabolite, 25-Hydroxyvitamin D, regulates lipid metabolism by inducing degradation of SREBP/SCAP
10.1016/j.chembiol.2016.12.017 · 2017 · External reference
