3′ Untranslated Region Structural Elements in CYP24A1 Are Associated With Infantile Hypercalcemia Type 1
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Bone and Mineral Research"
DOI: 10.1002/jbmr.4769
Abstract: Loss‐of‐function mutations in the CYP24A1 protein‐coding region causing reduced 25 hydroxyvitamin D (25OHD) and 1,25 dihydroxyvitamin D (1,25(OH)2D) catabolism have been observed in some cases of infantile hypercalcemia type 1 (HCINF1), which can manifest as… read more here.
Keywords: untranslated region; hypercalcemia; infantile hypercalcemia; structural elements ... See more keywords
Vitamin D and Diseases of Mineral Homeostasis: A Cyp24a1 R396W Humanized Preclinical Model of Infantile Hypercalcemia Type 1
Sign Up to like & getrecommendations! Published in 2022 at "Nutrients"
DOI: 10.3390/nu14153221
Abstract: Infantile hypercalcemia type 1 (HCINF1), previously known as idiopathic infantile hypercalcemia, is caused by mutations in the 25-hydroxyvitamin D 24-hydroxylase gene, CYP24A1. The R396W loss-of-function mutation in CYP24A1 is the second most frequent mutated allele… read more here.
Keywords: hypercalcemia type; infantile hypercalcemia; cyp24a1 r396w; hypercalcemia ... See more keywords