Results 51 to 60 of about 26,513 (179)

Analysis of Steroid 21-Hydroxylase Gene in Five Unrelated Japanese Patients with 21-Hydroxylase Deficiency

Endocrinologia Japonica, 1987
DNA samples from five unrelated Japanese patients with 21-hydroxylase (21-OHase) deficiency were studied by Southern analysis using human 21-OHase cDNA. Patterns seen after digestion with not only TaqI but also KpnI showed that two out of the five patients were homozygous for a deletion of the 21-OHase B gene.
NAKURA, JUN, MIKI, TETSURO, FUKUCHI, KEN-ICHIRO, SHIMIZU, KAZUO, NOSE, OSAMU, TAKAI, SHIN-ICHIRO, WHITE, PERRIN C., HONJO, TASUKU, KUMAHARA, YUICHI   +8 more
openaire   +4 more sources

Steroid 21-hydroxylase expression and activity in human lymphocytes

Molecular and Cellular Endocrinology, 1997
Steroid 21-hydroxylase encoded by CYP21 is expressed in adrenal cortex. Mutations in CYP21 cause potentially lethal congenital adrenal hyperplasia (CAH). Earlier observations suggested alternative sources of 21-hydroxylase activity, although its genetic source remains unclear.
Z, Zhou, V R, Agarwal, N, Dixit, P, White, P W, Speiser   +4 more
openaire   +2 more sources

Growth characteristics of children with 21-hydroxylase deficiency and the value of steroid hormones in height assessment

BMC Pediatrics
Background Impaired height is a common complication of 21-hydroxylase deficiency (21OHD), yet sensitive monitoring indicators remain limited. This study aims to elucidate growth characteristics and identify effective monitoring parameters for 21OHD ...
Hemeng Chong, Yalei Pi, Yanan Zhang, Yuqian Li, Yutong Xing, Huifeng Zhang   +5 more
doaj   +1 more source

Rooibos Flavonoids Inhibit the Activity of Key Adrenal Steroidogenic Enzymes, Modulating Steroid Hormone Levels in H295R Cells

Molecules, 2014
Major rooibos flavonoids—dihydrochalcones, aspalathin and nothofagin, flavones—orientin and vitexin, and a flavonol, rutin, were investigated to determine their influence on the activity of adrenal steroidogenic enzymes, 3β-hydroxysteroid dehydrogenase ...
Lindie Schloms, Amanda C. Swart
doaj   +1 more source

Mouse steroid 15α-hydroxylase gene family: Identification of type II P-45015α as coumarin 7-hydroxylase

, 1989
We identified type II P-45015α as mouse coumarin 7-hydroxylase (P-450coh). Unlike type I P-45015α, the other member within the mouse steroid 15α-hydroxylase gene family, type II catalyzed little steroid 15α-hydroxylase activity, yet structurally there ...
Lang, M., Negishi, M., Lindberg, R., Burkhardt, B., Ichikawa, T., Honkakoski, P.   +5 more
core   +1 more source

Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: laboratory criteria for the diagnosis and control of treatment efficacy

Mìžnarodnij Endokrinologìčnij Žurnal, 2019
Non-classic congenital adrenal hyperplasia (NCAH) due to 21-hydroxylase deficiency is one of the actual causes of hyperandrogenic manifestations at different age intervals.
O.V. Rykova
doaj   +3 more sources

The effect of etanercept therapy on adrenal steroid metabolism in juvenile idiopathic arthritis: a steroid metabolomics approach

Pediatric Rheumatology Online Journal, 2023
Objective To evaluate the impact of anti-tumor necrosis factor-alpha (TNFα: etanercept [Etanercept ®]) therapy on adrenal activity in juvenile idiopathic arthritis (JIA) .
Yonatan Butbul Aviel, Ariel Keinan, Michaela F. Hartmann, Stefan A. Wudy, Dov Tiosano   +4 more
doaj   +1 more source

Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency [PDF]

Journal of Human Genetics, 1999
We have designed a rapid and convenient strategy to determine nine of the most common mutations in the 21-hydroxylase gene (CYP21). The frequency of the mutations was investigated in 34 Japanese patients affected with congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency. We characterized 82% of the CAH chromosomes. The most frequent
A, Asanuma, T, Ohura, E, Ogawa, S, Sato, Y, Igarashi, Y, Matsubara, K, Iinuma   +6 more
openaire   +2 more sources

Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency

BMC Medical Genetics, 2010
Background Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is caused by deletions, large gene conversions or mutations in CYP21A2 gene. The human gene is located at 6p21.3 within a locus containing the genes for putative serine/threonine ...
Guerra-Júnior Gil, Baptista Maria TM, de Lemos-Marini Sofia HV, Petroli Reginaldo J, Lau Ivy F, Paulino Luciana C, de Araújo Marcela, Bernardi Renan D, Soardi Fernanda C, Coeli Fernanda B, de-Mello Maricilda P   +10 more
doaj   +1 more source

Management issues of congenital adrenal hyperplasia during the transition from pediatric to adult care [PDF]

Korean Journal of Pediatrics, 2017
Steroid 21-hydroxylase deficiency is the most prevalent form of congenital adrenal hyperplasia (CAH), accounting for approximately 95% of cases. With the advent of newborn screening and hormone replacement therapy, most children with CAH survive into ...
Jin-Ho Choi, Han-Wook Yoo
doaj   +1 more source