ArticleRheumatic diseases clinics of North America2012
Genetic disorders and defects in vitamin D action.
Article in Rheumatic diseases clinics of North America, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
What it found
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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
13 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Pooled it
- Hereditary vitamin D resistant rickets (HVDRR) case series: phenotype, genotype, conventional treatment, and adjunctive cinacalcet therapy.Pediatric endocrinology, diabetes, and metabolism · 2024Article
- An overview of CYP27B1 enzyme mutation and management: A case report and review of the literature.Clinical case reports · 2023Article
- Alkaline phosphatase in clinical practice in childhood: Focus on rickets.Frontiers in endocrinology · 2023Review
- Genetic Forms of Calciopenic Rickets.The Eurasian journal of medicine · 2022Article
- Lifelong deformities in an adult caused by vitamin D‑dependent rickets type 1A: A case report.Experimental and therapeutic medicine · 2022Article
- Role of Neural Stem Cells and Vitamin D Receptor (VDR)-Mediated Cellular Signaling in the Mitigation of Neurological Diseases.Molecular neurobiology · 2022Review
- Novel Homozygous CYP27B1 Gene Mutation in Vitamin D-Dependent Rickets Type 1A (VDDR1A) Disorder: A Case Report.Frontiers in endocrinology · 2022Article
- Diagnosis and management of hypocalcemia.Endocrine · 2020Review
- Vitamin D: Newer Concepts of Its Metabolism and Function at the Basic and Clinical Level.Journal of the Endocrine Society · 2020Article
- Genetic and Clinical Characteristics of Patients with Vitamin D Dependent Rickets Type 1AJournal of clinical research in pediatric endocrinology · 2019Article
- Without 1α-hydroxylation, the gene expression profile of 25(OH)DScientific reports · 2018Article
- A novel pathogenic mutation of the CYP27B1 gene in a patient with vitamin D-dependent rickets type 1: a case report.BMC research notes · 2014Article
Corrections and comments
- Reprint of
Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The biochemical and genetic analysis of the VDR in patients with HVDRR has yielded important insights into the structure and function of the receptor in mediating 1,25(OH)2D3 action. Similarly, study of children affected by HVDRR continues to provide a more complete understanding of the biologic role of 1,25(OH)2D3 in vivo. A concerted investigative approach to HVDRR at the clinical, cellular, and molecular levels has proved valuable in gaining knowledge of the functions of the domains of the VDR and elucidating the detailed mechanism of action of 1,25(OH)2D3. These studies have been essential to promote the well-being of the families with HVDRR and in improving the diagnostic and clinical management of this rare genetic disease.
Identifiers
22525845What 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.