Trial reportArchives of biochemistry and biophysics2007
A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia.
Trial report in Archives of biochemistry and biophysics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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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.
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Who cites it
16 citing papers in PubMed, 38 citations in OpenAlex.
- Vitamin D Receptor Gene Polymorphism In Chronic Telogen Effluvium; A Case-Control Study.Clinical, cosmetic and investigational dermatology · 2019Article
- Functions of vitamin D in bone.Histochemistry and cell biology · 2018Review
- The Effectiveness of Cinacalcet as an Adjunctive Therapy for Hereditary 1,25 Dihydroxyvitamin D3-Resistant Rickets.Journal of clinical research in pediatric endocrinology · 2017Article
- Genomic structure and marker-derived gene networks for growth and meat quality traits of Brazilian Nelore beef cattle.BMC genomics · 2016Article
- CYP2R1 Mutations Impair Generation of 25-hydroxyvitamin D and Cause an Atypical Form of Vitamin D Deficiency.The Journal of clinical endocrinology and metabolism · 2015Article
- Vitamin D receptor mutations in patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets.Molecular genetics and metabolism · 2014Article
- Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets.BoneKEy reports · 2014Review
- Cell-autonomous regulation of brown fat identity gene UCP1 by unliganded vitamin D receptor.Molecular endocrinology (Baltimore, Md.) · 2013Article
- Xenobiotic-sensing nuclear receptors involved in drug metabolism: a structural perspective.Drug metabolism reviews · 2013Review
- The role of vitamin D receptor mutations in the development of alopecia.Molecular and cellular endocrinology · 2011Review
- Novel compound heterozygous mutations in the vitamin D receptor gene in a Korean girl with hereditary vitamin D resistant rickets.Journal of Korean medical science · 2011Article
- Genetic disorders and defects in vitamin d action.Endocrinology and metabolism clinics of North America · 2010Review
- The role of vitamin D and SLCO1B1*5 gene polymorphism in statin-associated myalgias.Dermato-endocrinology · 2010Article
- Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor.Molecular genetics and metabolism · 2010Article
- Placenta-specific methylation of the vitamin D 24-hydroxylase gene: implications for feedback autoregulation of active vitamin D levels at the fetomaternal interface.The Journal of biological chemistry · 2009Article
- Compound heterozygous mutations in the vitamin D receptor in a patient with hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2009Article
Corrections and comments
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Authors and funding
7 authors at 5 institutions in 1 country.
Funding
Abstract
Hereditary vitamin D resistant rickets (HVDRR) is caused by mutations in the vitamin D receptor (VDR). Here we describe a patient with HVDRR who also exhibited some hypotrichosis of the scalp but otherwise had normal hair and skin. A 102 bp insertion/duplication was found in the VDR gene that introduced a premature stop (Y401X). The patient's fibroblasts expressed the truncated VDR, but were resistant to 1,25(OH)2D3. The truncated VDR weakly bound [3H]-1,25(OH)2D3 but was able to heterodimerize with RXR, bind to DNA and interact with the corepressor hairless (HR). However, the truncated VDR failed to bind coactivators and was transactivation defective. Since the patient did not have alopecia or papular lesions of the skin generally found in patients with premature stop mutations this suggests that this distally truncated VDR can still regulate the hair cycle and epidermal differentiation possibly through its interactions with RXR and HR to suppress gene transactivation.
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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.