The treatment of choice for pseudo Vitamin D deficiency rickets (PDDR), caused by mutations in the 25-hydroxyvitamin D-1α-hydroxylase (CYP27B1; 1α-OHase) gene, is replacement therapy with 1,25(OH) 2D 3. We have previously engineered an animal model of PDDR by targeted inactivation of...
Pseudovitamin D-deficiency rickets is caused by mutations in the cytochrome P450 enzyme, 25-hydroxyvitamin D(3)-1alpha-hydroxylase (1alpha-OHase). Patients with the disease exhibit growth retardation, rickets, and osteomalacia. Serum biochemistry is characterized by hypocalcemia, secondary ...
Examines the role of uremia, 125(OH)2D3 deficiency, and 25(OH)d3 supplementation in the expression of monocyte 1alpha-hydroxylase. Isolation of peripheral macrophages; Experimental protocols; Kinetic parameters of 1alpha-hydroxylase of peripheral blood monocytes; Serum chemistry.Gallieni...
St-Arnaud R, Messerlian S, Moir JM, Omdahl JL, Glorieux FH. The 25-hydroxyvitamin D 1-alpha-hydroxylase gene maps to the pseudovitamin D-deficiency rickets (PDDR) disease locus . J Bone Miner Res 1997; 10 :1552–1559.Henry HL (2011) Regulation of vitamin D metabolism. Best Pract ...
Klotho deficiency accelerates aging and early death, effects at least partially due to excessive formation of 1,25(OH)2D3 and subsequent hyperphosphatemia. Klotho expression is inhibited by aldosterone. The present study explored the interaction of aldosterone and DOCA as well as the moderately ...
Therefore, such supplementation should not be given in malakoplakia patients without an actual deficiency and requires careful monitoring of serum calcium.doi:10.1097/md.0000000000012090Jonathan Maurice ChemounyAurélie SannierGuillaume HanounaLaure Champion...
VITAMIN D 1 alpha-HYDROXYLASE GENE MUTATIONS IN CHINESE PATIENTS WITH PSEUDO-VITAMIN D-DEFICIENCY RICKETSXia, W
Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets. New Eng J Med 1998;338(10):653-61.Kitanaka S, Takeyama K, Murayama A, Sato T, Okumura K, Nogami M, Hasegawa Y, Niimi H, Yanagisawa J, ...
Abstract #138: 17 Alpha Hydroxylase Deficiency in Two Saudi Siblings Presenting as Hypertension and Hypokalemiadoi:10.1016/S1530-891X(20)44312-5Imad Addin Brema MD, FRCPI, FRCPGlasgowSouha Al-Abd MRCPUKOhoud El Mohareb MDAli Al Zahrani MD, FACE...
We hypothesize that PHD1(-/-) or PHD3(-/-) deficiency might promote angiogenesis in the murine hind-limb ischemia (HLI) model.Rishi, Muhammad T.Selvaraju, VaithinathanThirunavukkarasu, MaheshShaikh, Inam A.Takeda, KotaroFong, Guo-HuaPalesty, J. AlexanderSanchez, Juan A.Maulik, ...