Mutations in CYP24A1 and idiopathic infantile hypercalcemia.
By K. Schlingmann, M. Kaufmann, S. Weber, Andrew Irwin, Caroline Goos, U. John, J. Misselwitz, G. Klaus, E. Kuwertz-Bröking, H. Fehrenbach and 7 more. New England Journal of Medicine, 2011
616 citations recorded by the source corpus.
Subfields: Orthopedics and Sports Medicine, Pathology and Forensic Medicine, Rheumatology
View Paper: https://www.semanticscholar.org/paper/132259194f9c2e799011b200b844260a5bd43339
How researchers see this paper
The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.
In Orthopedics and Sports Medicine
In Pathology and Forensic Medicine
Citations in the corpus
- The nonskeletal effects of vitamin D: an Endocrine Society scientific statement. (2012, background): “Infectious mycobacterial (TLR2/1 and TLR4) (233, 235), bacterial (TLR4 and TLR6) (242, 243), and viral diseases (TLR 7) (244), as well as autoimmune diseases (TLR7) (245) have all been significantly associated with low serum 25(OH)D levels in cross-sectional studies.”
- Vitamin D deficiency 2.0: an update on the current status worldwide (2020, background): “However, various mutations in vitamin D metabolizing enzymes that may lead to increased sensitivity to standard vitamin D supplementation or even endogenous vitamin D intoxication with hypercalcemia, hypercalciuria, and nephrocalcinosis/ chronic renal insufficiency have been described [110] .”
- Vitamin D—Effects on Skeletal and Extraskeletal Health and the Need for Supplementation (2013, background): “However, certain conditions like granulomatous conditions [243], genetic disorders [244] or rare polymorphisms of enzymes involved in vitamin D metabolism [245] are associated with an increased risk for vitamin D toxicity.”
- Vitamin D for Health: A Global Perspective (2013, neutral): “It is believed that this is due to a genetic mutation of the cyp24A1 that reduces the catabolism of 25(OH)D and 1,25(OH)2D and can be a cause of infantile hypercalcemia.(245) Therefore, these recent genomic and epigenetic data provide additional evidence of genetic-environmental interactions and the”
- Molecular Mechanisms of Vitamin D Action (2012, neutral): “idiopathic infantile hypercalcemia [43], highlighting the”
- Vitamin D Metabolism, Mechanism of Action, and Clinical Applications (2014, background): “Furthermore, inactivating mutations in CYP24A1 have recently been found in children with idiopathic infantile hypercalcemia who present with severe hypercalcemia, hypercalciuria, and nephrocalcinosis, decreased PTH, low 24,25(OH)2D, and inappropriately normal-to-high 1,25(OH)2D (Schlingmann et al., ”