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Genetics of Steroid 21-Hydroxylase Deficiency

1987
Publisher Summary Congenital adrenal hyperplasia because of steroid 21-hydroxylase (21-OHase) deficiency is one of the most common inborn errors of metabolism. The 21-OHase locus is closely linked to the HLA major histocompatibility complex, and 21-OHase deficiency alleles show characteristic associations with particular HLA antigens and with alleles
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Steroid 17α-hydroxylase of the rat adrenal

Journal of Steroid Biochemistry, 1979
Abstract The 105,000 g microsomal fraction of male or female rat adrenal contains steroid 17α-hydroxylase activity, as measured by a tritium exchange assay using 17α-[ 3 H]-pregnenolone as substrate. Administration of estrogen caused a pronounced increase in enzyme activity in the adrenals of both sexes, but the increase was greater in males. Ovine
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The presence of 6β-steroid hydroxylase in human cornea

Journal of Steroid Biochemistry, 1976
Abstract Human cornea were excised at the time of surgical procedure from patients undergoing radical surgery. Three separate incubations were performed in Eagle's minimum essential medium with [4- 14 C]-progesterone as precursor for five days. From the initial radioactivity, 6.9% was biotransformed to 6β-hydroxy-4-pregnene-3,20-dione.
A J, Gallegos, P D, Partida, P, Garzón
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Steroid 21-Hydroxylase

1993
Cortisol synthesis in the zona fasciculata of the adrenal cortex requires five enzymatic steps: the cholesterol side chain is cleaved to yield pregnenolone, which is dehydrogenated at the 3β position to progesterone, which is successively hydroxylated at the 17α, 21 and 11β positions. The side-chain cleavage and the three hydroxylations are mediated by
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A new ELISA for autoantibodies to steroid 21-hydroxylase

Clinical Chemistry and Laboratory Medicine (CCLM), 2017
Abstract Background: A new ELISA for autoantibodies to steroid 21-hydroxylase (21-OH Ab) is described. Methods: In the assay test sample autoantibodies form a bridge between 21-OH coated onto the plate well and liquid phase 21-OH ...
Larosa, Maria   +11 more
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Bovine steroid 21-hydroxylase: regulation of biosynthesis

Biochemistry, 1986
A recombinant cDNA clone, PBC21-1, specific for bovine steroid 21-hydroxylase cytochrome P-450 (P-450C21) was identified in a bovine adrenocortical cDNA library, and this identity was confirmed by nucleotide sequencing which revealed significant amino acid homology (77%) with human P-450C21 cDNA.
M E, John   +7 more
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[29] Adrenal steroid hydroxylases

1969
Publisher Summary This chapter discusses the general procedures used in the laboratories for separating mitochondria and microsomes from the adrenal cortex of steers and for preparing a reaction medium for the hydroxylase assays. The chapter summarizes the most common steroid assays. Modifications of these procedures are pointed out on the individual
Otto Rosenthal, Shakunthala Narasimhulu
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Molecular pathology of steroid 21-hydroxylase deficiency

The Journal of Steroid Biochemistry and Molecular Biology, 1991
The molecular pathology of steroid 21-hydroxylase deficiency is attributable to unequal crossover-mediated gene deletion or to large- or small-scale replacement of the functional CYP21B gene sequence by a copy of the analogous CYP21A pseudogene sequence.
T, Strachan, P C, White
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Factors influencing steroid hydroxylases in liver microsomes

Advances in Enzyme Regulation, 1966
Abstract Liver microsomal enzymes oxidatively metabolize drugs, insecticides and steroids in the presence of TPNH and oxygen to compounds that are more polar than the substrate. Several factors listed below which alter the activity of the oxidative drug-metabolizing enzymes in liver microsomes, similarly alter the activity of liver microsomal enzymes
R, Kuntzman, R, Welch, A H, Conney
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Genetics of Adrenal Steroid 21-Hydroxylase Deficiency*

Endocrine Reviews, 1986
Impairment of 21-hydroxylation is the most common enzymatic deficiency resulting in the syndrome of CAH, which may present either in the classical form in infants or in the nonclassical form in older individuals. Variable signs and symptoms of androgen excess are common to both types of the disorder, which are transmitted as autosomal recessive traits ...
M I, New, P W, Speiser
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