Results 221 to 230 of about 76,273 (258)

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

Analysis of Mutations Causing Steroid 21-hydroxylase Deficiency

Endocrine Research, 1989
Steroid 21-hydroxylase deficiency is the most frequent cause of congenital adrenal hyperplasia, an inherited inability to synthesize cortisol. Mutations causing this disorder have been characterized by hybridization analysis of patient DNA samples using cDNA and oligonucleotide probes, and by cloning and sequencing of mutant 21-hydroxylase (CYP21B ...
openaire   +2 more sources

Steroid 21-hydroxylase activity by fibroblasts during the cell cycle

Steroids, 1969
Abstract Synchronized cultures of murine fibroblasts are demonstrated to be capable of 21-hydroxylating progesterone. This activity is most readily demonstrable during the “S” phase of the cell cycle. In mammals the capacity for this specific hydroxylation has heretofore only been shown by steroidogenic cells.
D L, Berliner, P, Garzon
openaire   +2 more sources

Characterization of a new splicing mutation in the steroid 21-hydroxylase gene

Russian Journal of Bioorganic Chemistry, 2011
Novel mutation in CYP21A2 gene causing the steroid 21-hydroxylase deficiency - C to G substitution in 7-position ofintron 2 acceptor splice site (c.290-7C>G) was identified. The effect of the mutation on splicing was checked in the system of CYP21A minigene expression in the cultured mammalian cells.
P M, Rubtsov, E L, Igudin, M Iu, Pichugina, P V, Spirin, V S, Prasolov, A N, Tul'pakov   +5 more
openaire   +2 more sources

Analysis of steroid 21-hydroxylase gene mutations in the Spanish population

Human Genetics, 1995
Steroid 21-hydroxylase deficiency is the major cause of congenital adrenal hyperplasia. Genotyping for deletions and nine point mutations in the CYP21 gene has been performed in 38 Spanish patients and their relatives by Southern blot analysis and allele-specific oligonucleotide hybridization.
B, Ezquieta, A, Oliver, R, Gracia, P G, Gancedo   +3 more
openaire   +2 more sources

Molecular Genetics and the Characterization of Steroid 21-Hydroxylase Deficiency

Endocrine Research, 1986
Classical 21-hydroxylase deficiency congenital adrenal hyperplasia is a monogenic autosomal recessive disorder that has been conclusively shown by family HLA-typing studies to be in close genetic linkage with the human major histocompatibility complex.
openaire   +2 more sources

MICROSATELLITE MARKERS IN THE INDIRECT ANALYSIS OF THE STEROID 21-HYDROXYLASE GENE

Prenatal Diagnosis, 1997
Prenatal diagnosis and treatment of congenital adrenal hyperplasia due to steroid 21-hydroxylase (21-OH) deficiency has been proved to be effective. Screening for a panel of nine point mutations, deletions, and gene conversions allows the identification of most of the mutations, although 6.12 per cent of chromosomes remain uncharacterized.
B, Ezquieta, C, Jariego, J M, Varela, A, Oliver, R, Gracia   +4 more
openaire   +2 more sources

Genotyping steroid 21-hydroxylase deficiency: hormonal reference data.

Journal of Clinical Endocrinology and Metabolism, 1983
M. New, F. Lorenzen, A. Lerner, B. Kohn, Oberfield Se, M. Pollack, B. Dupont, E. Stoner, D. Levy, S. Pang, L. Levine   +10 more
semanticscholar   +1 more source

Steroid 21-hydroxylase deficiency

Current Opinion in Pediatrics, 1989
Perrin C. White, Christopher Crawford, Maria I. New   +2 more
openaire   +1 more source

Gene conversion in steroid 21-hydroxylase genes.

American journal of human genetics, 1990
The steroid 21-hydroxylase gene, CYP21B, encodes cytochrome P450c21, which mediates 21-hydroxylation. The gene is located about 30 kb downstream from pseudogene CYP21A. The CYP21A gene is homologous to the CYP21B gene but contains some mutations, including a C----T change which leads a termination codon, TAG, in the eighth exon.
K, Urabe, A, Kimura, F, Harada, T, Iwanaga, T, Sasazuki   +4 more
openaire   +1 more source