ReviewBoneKEy reports2014
Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets.
Review in BoneKEy reports, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
57 citing papers in PubMed, 125 citations in OpenAlex.
- The Role of Vitamin D in Parkinson's Disease: Evidence from Serum Concentrations, Supplementation, andNeuroSci · 2025Review
- Vitamin D receptor signalling regulates the diet-driven metabolic shift during weaning.Molecular metabolism · 2025Article
- Dysregulation and gene polymorphisms of Vitamin D receptor: its implications in lipid metabolic disorders.Molecular biology reports · 2025Review
- Effect of calcium supplementation on bone deformity and histopathological findings of skin papules in a pediatric patient with vitamin D-dependent rickets type 2A: A case report.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2025Article
- Heterozygous Hereditary Vitamin D-Dependent Rickets Type 2A (VDDR2A) in a Patient Presenting With Pseudoarthrosis.Case reports in endocrinology · 2025Article
- Maternal loss of 24-hydroxylase causes increased intestinal calcium absorption and hypercalcemia during pregnancy but reduced skeletal resorption during lactation in mice.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2024Article
- Skewed epithelial cell differentiation and premature aging of the thymus in the absence of vitamin D signaling.Science advances · 2024Article
- Physiology of Vitamin D-Focusing on Disease Prevention.Nutrients · 2024Review
- Loss of maternal calcitriol reversibly alters early offspring growth and skeletal development in mice.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2024Article
- Article
- Hereditary vitamin D resistant rickets (HVDRR) case series: phenotype, genotype, conventional treatment, and adjunctive cinacalcet therapy.Pediatric endocrinology, diabetes, and metabolism · 2024Article
- Hereditary Rickets: A Quick Guide for the Pediatrician.Current pediatric reviews · 2024Review
- Characterization of Rickets Type II Model Rats to Reveal Functions of Vitamin D and Vitamin D Receptor.Biomolecules · 2023Article
- Gene therapy for alopecia in type II rickets model rats using vitamin D receptor-expressing adenovirus vector.Scientific reports · 2023Article
- Genome-wide analyses of gene expression profile identify key genes and pathways involved in skeletal response to phosphate and 1,25-dihydroxyvitamin DThe Journal of steroid biochemistry and molecular biology · 2023Article
- Study of the Thyroid Profile of Patients with Alopecia.Journal of clinical medicine · 2023Review
- Vitamin D Analogs Bearing C-20 Modifications Stabilize the Agonistic Conformation of Non-Responsive Vitamin D Receptor Variants.International journal of molecular sciences · 2022Article
- Vitamin D and Its Receptor from a Structural Perspective.Nutrients · 2022Review
- Significance of the Vitamin D Receptor on Crosstalk with Nuclear Receptors and Regulation of Enzymes and Transporters.The AAPS journal · 2022Review
- The genetic and epigenetic contributions to the development of nutritional rickets.Frontiers in endocrinology · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Heterogeneous loss of function mutations in the vitamin D receptor (VDR) interfere with vitamin D signaling and cause hereditary vitamin D-resistant rickets (HVDRR). HVDRR is characterized by hypocalcemia, secondary hyperparathyroidism and severe early-onset rickets in infancy and is often associated with consanguinity. Affected children may also exhibit alopecia of the scalp and total body. The children usually fail to respond to treatment with calcitriol; in fact, their endogenous levels are often very elevated. Successful treatment requires reversal of hypocalcemia and secondary hyperparathyroidism and is usually accomplished by administration of high doses of calcium given either intravenously or sometimes orally to bypass the intestinal defect in VDR signaling.
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.