Polymorphic Variation in the 11β-Hydroxylase Gene Associates With Reduced 11-Hydroxylase Efficiency
نویسندگان
چکیده
منابع مشابه
Polymorphic variation in the 11beta-hydroxylase gene associates with reduced 11-hydroxylase efficiency.
The -344 C/T and intron 2 conversion variants in the CYP11B2 gene, encoding aldosterone synthase, have been associated with markers of impaired 11beta-hydroxylase activity. We hypothesize that this association is because of variations in the adjacent 11beta-hydroxylase gene (CYP11B1) and arises through linkage disequilibrium between CYP11B1 and CYP11B2. The pattern of variation across the entir...
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Steroid 11 β -hydroxylase deficiency (11 β -OHD) is the second most common cause of congenital adrenal hyperplasia. Mutations in the CYP11B1 gene, which encodes steroid 11 β -hydroxylase, are responsible for this autosomal recessive disorder. Here, we describe the molecular genetics of two previously reported male siblings in whom diagnosis of 11 β -OHD has been established based on their hormo...
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Background: Phenylketonuria as the most common genetic metabolic disorder is the result of disruption of the phenylalanine hydroxylase gene. This study was carried out to explore the phenylalanine hydroxylase gene mutation status of Iranian phenylketonuria patients. Methods: Blood samples were collected from 30 patients, and hot spot areas of the phenylalanine hydroxylase gene, in...
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11 -Hydroxy (11 -OH) derivatives of certain steroids function as inhibitors of 11 -hydroxysteroid dehydrogenase isoform 1 (11 HSD1), an enzyme expressed in Leydig cells that catalyzes the reversible oxidation of biologically active glucocorticoids to inactive 11-dehydro metabolites. 11 -Hydroxylase is an adrenal enzyme responsible for glucocorticoid biosynthesis, catalyzing 11 -hydroxylation of...
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ژورنال
عنوان ژورنال: Hypertension
سال: 2007
ISSN: 0194-911X,1524-4563
DOI: 10.1161/01.hyp.0000249904.93940.7a