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No significant differences were found between ischemic stroke patients and controls in terms of CYP24A1 (Montrer CYP24A1 Anticorps) rs927650 and CYP2R1 rs10741657 genotype frequencies. Polymorphic allele frequencies of CYP24A1 (Montrer CYP24A1 Anticorps) rs927650 and CYP2R1 rs10741657 were 0.414 and 0.660 in stroke patients, respectively.
genetic association study in population in north India: Data suggest (1) GT allele of VDBP (Montrer GC Anticorps) SNP rs7041, (2) VDBP (Montrer GC Anticorps) allelic combination (GC1F/1F: T allele rs4588; C allele rs7041), and (3) GA allele of CYP2R1 SNP rs2060793 are associated with vitamin D deficiency in women with PCOS (polycystic ovarian syndrome) in population studied. (VDBP (Montrer GC Anticorps) = vitamin D-binding protein (Montrer GC Anticorps); CYP2R1 = cytochrome P450 (Montrer CYP Anticorps) family 2 subfamily R member 1)
The results of this study suggested that a role of CYP2R1 rs10766197 in both risk and progression of Muscle sclerosis with sex-related differences.
CYP2R1 polymorphisms are important modulators of circulating 25-hydroxyvitamin D levels in elderly females with vitamin insufficiency.
CYP3A4 (Montrer CYP3A4 Anticorps)*22 and combined CYP3A (Montrer CYP3A4 Anticorps) genotypes are unlikely to provide additional information beyond CYP3A5 (Montrer CYP3A5 Anticorps) genotype.
This article concludes that mutations in CYP2R1 are responsible for an atypical form of vitamin D-deficiency rickets, which has been classified as vitamin D dependent rickets type 1B (VDDR1B, MIM (Montrer MTSS1 Anticorps) 600081). [review]
The authors describe a low-frequency CYP2R1 coding variant that exerts the largest effect upon 25-hydroxyvitamin D levels identified to date in the general European population and implicates vitamin D in the etiology of multiple sclerosis.
Allelic variations in CYP2R1 and GC affect vitamin D levels, but variant alleles on VDR (Montrer CYP27B1 Anticorps) and DHCR7 (Montrer DHCR7 Anticorps) were not correlated with vitamin D deficiency.
Expression of CYP2R1 was in spermatozoa from healthy controls compared with infertile men, however the percentage of spermatozoa expressing CYP2R1 was not significantly higher.
our study for the first time reports a potentially causative role of CYP2R1 mutation in Vogt-koyanagi-harada disease.
The results of this study suggest that CYP2R1 and CYP26A1 (Montrer CYP26A1 Anticorps) are important in the differentiation of oval cells into hepatoblast-like cells in the injured liver
These results suggest that CYP2R1 and CYP26A1 (Montrer CYP26A1 Anticorps) may play a major role in hepatoblast cell differentiation during the development of the liver.
CYP2R1 is the major enzyme responsible for 25-hydroxylation of vitamin D.
Data show that the absence of either of the two key hydroxylases, vitamin D 25-hydroxylase (CYP2R1) or vitamin D 25-hydroxyvitamin D-1alpha-hydroxylase (CYP27B1 (Montrer CYP27B1 Anticorps))neither inhibits nor enhances the development of experimental autoimmune encephalomyelitis (EAE).
CYP2R1 is a strong candidate for the microsomal vitamin D 25-hydroxylase.
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is a microsomal vitamin D hydroxylase that converts vitamin D into the active ligand for the vitamin D receptor. A mutation in this gene has been associated with selective 25-hydroxyvitamin D deficiency.
cytochrome P450, family 2, subfamily R, polypeptide 1
, vitamin D 25-hydroxylase
, similar to cytochrome P450 2R1
, cytochrome P450 2R1
, cytochrome P450, family 2, R1
, cytochrome P450, 2r1