Improved Screening Test for Idiopathic Infantile Hypercalcemia Confirms Residual Levels of Serum 24,25‐(OH)2D3 in Affected Patients
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Bone and Mineral Research"
DOI: 10.1002/jbmr.3135
Abstract: CYP24A1 mutations are now accepted as a cause of idiopathic infantile hypercalcemia (IIH). A rapid liquid‐chromatography tandem mass spectrometry (LC‐MS/MS)‐based blood test enabling measurement of the 25‐OH‐D3:24,25‐(OH)2D3 ratio (R) can identify IIH patients on the… read more here.
Keywords: serum 2d3; infantile hypercalcemia; iih; idiopathic infantile ... See more keywords
Sex-specific role of CYP24A1 rs2762939 in the risk of essential hypertension based on the serum vitamin D and total renin concentrations.
Sign Up to like & getrecommendations! Published in 2019 at "Genomics"
DOI: 10.1016/j.ygeno.2019.05.013
Abstract: CYP24A1, Vitamin D 24-hydroxylase catabolizes 25-hydroxyvitamin D (25(OH)D) and 1,25-dihydroxyvitamin D to 24-hydroxylated vitamin D products. It is widely known that low Vitamin D can lead to increased renal renin and angiotensin II production, consequently… read more here.
Keywords: cyp24a1 rs2762939; renin; vitamin; cyp24a1 ... See more keywords
Specificity of the Redox Complex between Cytochrome P450 24A1 and Adrenodoxin Relies on Carbon-25 Hydroxylation of Vitamin-D Substrate
Sign Up to like & getrecommendations! Published in 2019 at "Drug Metabolism and Disposition"
DOI: 10.1124/dmd.119.087759
Abstract: Metabolic deactivation of 1,25(OH)2D3 is initiated by modification of the vitamin-D side chain, as carried out by the mitochondrial cytochrome P450 24A1 (CYP24A1). In addition to its role in vitamin-D metabolism, CYP24A1 is involved in… read more here.
Keywords: p450; interaction; cytochrome p450; vitamin ... See more keywords
GP56 Severe hypercalcemic crisis in an infant with idiopathic infantile hypercalcemia caused by mutation in CYP24A1 gene
Sign Up to like & getrecommendations! Published in 2019 at "Archives of Disease in Childhood"
DOI: 10.1136/archdischild-2019-epa.122
Abstract: Introduction The presence of CYP24A1 mutations explains the increased sensitivity to vitamin D in patients with idiopathic infantile hypercalcemia and is a genetic risk factor for the development of symptomatic hypercalcemia that may be triggered… read more here.
Keywords: hypercalcemia; infantile hypercalcemia; idiopathic infantile; vitamin ... See more keywords
Abstract 2485: CYP24A1-induced vitamin D insufficiency promotes breast cancer growth
Sign Up to like & getrecommendations! Published in 2018 at "Cancer Research"
DOI: 10.1158/1538-7445.am2018-2485
Abstract: Vitamin D plays a critical role in the maintenance of tissue homeostasis by regulating the expression of genes affecting cell proliferation, differentiation, and apoptosis. The vitamin D 24-hydroxylase CYP24A1 functions in vitamin D target tissues… read more here.
Keywords: cyp24a1 induced; induced vitamin; vitamin insufficiency; cancer ... See more keywords
Hypercalcemia due to CYP24A1 mutations: a systematic descriptive review.
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DOI: 10.1530/eje-21-0713
Abstract: BACKGROUND AND OBJECTIVES CYP24A1 encodes a 24-hydroxylase involved in vitamin D catabolism, whose loss-of-function results in vitamin D-dependent hypercalcemia. Since the identification of CYP24A1 variants as a cause of idiopathic infantile hypercalcemia (IIH), a large… read more here.
Keywords: due cyp24a1; hypercalcemia due; cyp24a1; cyp24a1 variants ... See more keywords
Immunoreactivity to CYP24A1, but not vitamin D receptor, is increased in mast cells of keratinocyte skin cancers
Sign Up to like & getrecommendations! Published in 2017 at "European Journal of Dermatology"
DOI: 10.1684/ejd.2017.3132
Abstract: BackgroundIn mouse skin models, mast cells have been shown to express vitamin D receptor (VDR) that can mediate the immunosuppressive effects of ultravioletBradiation and vitamin D3. However,VDR activation leads to the expression of CYP24A1, a… read more here.
Keywords: keratinocyte skin; skin cancers; mast cells; skin ... See more keywords
Role of polymorphisms of FAM13A, PHLDB1, and CYP24A1 in breast cancer risk.
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DOI: 10.2174/1566524019666190619125109
Abstract: BACKGROUND Single-nucleotide polymorphisms (SNPs) are important indicators of susceptibility to breast cancer. OBJECTIVE To assess the association between SNPs in the FAM13A, PHLDB1, and CYP24A1 and breast cancer risk in the Chinese Han population. METHODS… read more here.
Keywords: cancer risk; cyp24a1; breast; breast cancer ... See more keywords
Therapeutic Potential of a Novel Vitamin D3 Oxime Analogue, VD1-6, with CYP24A1 Enzyme Inhibitory Activity and Negligible Vitamin D Receptor Binding
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DOI: 10.3390/biom12070960
Abstract: The regulation of vitamin D3 actions in humans occurs mainly through the Cytochrome P450 24-hydroxylase (CYP24A1) enzyme activity. CYP24A1 hydroxylates both 25-hydroxycholecalciferol (25(OH)D3) and 1,25-dihydroxycholecalciferol (1,25(OH)2D3), which is the first step of vitamin D catabolism.… read more here.
Keywords: vitamin; inhibitory; activity; cyp24a1 ... See more keywords