Results 171 to 180 of about 19,718 (218)

Mutations in Steroid 21-Hydroxylase (CYP21)

Human Mutation, 1994
The inherited inability to synthesize cortisol is termed congenital adrenal hyperplasia. More than 90% of cases are caused by 21-hydroxylase deficiency. This syndrome is characterized by signs of androgen excess and often mineralocorticoid deficiency. Steroid 21-hydroxylase (P450c21) is a microsomal enzyme expressed in the adrenal gland that catalyzes ...
P C, White, M T, Tusie-Luna, M I, New, P W, Speiser   +3 more
openaire   +2 more sources

Steroid 21-Hydroxylase Deficiency in Mice*

Endocrinology, 1988
The enzyme steroid 21-hydroxylase (21-OHase) plays a key role in adrenal steroidogenesis. Defects in this enzyme are responsible for one of the most common inborn errors of metabolism in humans. Duplicated genes for the enzyme are located in the class III region of the major histocompatibility complex (MHC), HLA.
H, Gotoh, T, Sagai, J, Hata, T, Shiroishi, K, Moriwaki   +4 more
openaire   +2 more sources

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, T, Okamura, A, Dee, B, Adler, M C, John, P C, White, E R, Simpson, M R, Waterman   +7 more
openaire   +2 more sources

Regulation of 21-Hydroxylase activity by steroids

Endocrine Research, 1995
In this study, we investigated the effect of steroids on guinea pig and bovine adrenal steroidogenesis, especially 21-hydroxylase activity. Analysis of guinea pig adrenal steroids indicated the presence of high concentrations of androstenedione in the guinea pig adrenal; furthermore, in vitro studies using guinea pig adrenal cortex cells in primary ...
A, Bélanger, Y, Tremblay, M, Vallée, P H, Provencher, S, Perron   +4 more
openaire   +2 more sources

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
openaire   +2 more sources

Steroid 21 Hydroxylase Deficiency Congenital Adrenal Hyperplasia

Endocrinology and Metabolism Clinics of North America, 2009
Steroid 21 hydroxylase deficiency is the most common form of congenital adrenal hyperplasia (CAH). The severity of this disorder depends on the extent of impaired enzymatic activity, which is caused by various mutations of the 21 hydroxylase gene. This article reviews adrenal steroidogenesis and the pathophysiology of 21 hydroxylase deficiency.
Saroj, Nimkarn, Karen, Lin-Su, Maria I, New   +2 more
openaire   +3 more sources

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
openaire   +2 more sources

Genetics of steroid 21-hydroxylase deficiency

Trends in Genetics, 1985
Abstract Classical and non-classical adrenal hyperplasia due to steroid 21-hydroxylase deficiency (210HD) are HLA-linked, autosomal recessive disorders characterized by a variable degree of hyperandrogenism and cortisol deficiency. Direct screening of newborns has placed the incidence of the classical disease at 1 : 5000 to 1 : 15 000, whereas the ...
Phyllis W. Speiser, Maria I. New
openaire   +1 more source

Steroid 21-hydroxylase expression in cultured rat astrocytes

Brain Research Bulletin, 2003
Over the past decade or so it has become widely recognised that the brain is a significant steroidogenic organ. Many publications have highlighted the ability of the brain to synthesise and interconvert a large number of steroid products including cholesterol, progesterone and testosterone.
Michael, Lovelace, Tom G, Watson, Garth L, Stephenson   +2 more
openaire   +2 more sources

Genotyping Steroid 21-Hydroxylase Deficiency: Hormonal Reference Data*

The Journal of Clinical Endocrinology & Metabolism, 1983
Hormonal reference data, in the form of nomograms relating baseline and stimulated levels of adrenal hormones, provide a means of genotyping steroid 21-hydroxylase (21-OH) deficiency in congenital adrenal hyperplasia. Data from both 360- and 60-min ACTH stimulation tests are given.
M I, New, F, Lorenzen, A J, Lerner, B, Kohn, S E, Oberfield, M S, Pollack, B, Dupont, E, Stoner, D J, Levy, S, Pang, L S, Levine   +10 more
openaire   +2 more sources