Results 51 to 60 of about 19,474 (186)

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

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

MUTATIONAL SPECTRUM OF THE STEROID 21-HYDROXYLASE GENE [PDF]

Pediatric Research, 1993
Lesions in the gene encoding steroid 21-hydroxylase (CYP21) result in defective adrenal steroid synthesis; the severe forms are known as congenital adrenal hyperplasia. To facilitate.complete characterization of mutations in this region of landemly repeated genes, we have developed selective PCR amplification and direct sequencing of full-length ...
A Wedell, E M Ritzén, H Luthman
openaire   +1 more source

Novel approaches for drug development against chronic primary pain: A systematic review

British Journal of Pharmacology, EarlyView.
Abstract Chronic primary pain (CPP) persisting for more than 3 months, associated with significant emotional distress without any known underlying cause, is an unmet medical need. Traditional or adjuvant analgesics do not provide satisfactory pain relief for a great proportion of these patients.
Valéria Tékus, Éva Borbély, Andreas Goebel, Ralf Baron, Zsófia Hajna, Zsuzsanna Helyes   +5 more
wiley   +1 more source

Pharmacological inhibition of hydroxysteroid 11‐beta dehydrogenase type 1 (11‐βHSD1) after myocardial infarction preserves cardiac function in a translational mini‐pig model

British Journal of Pharmacology, EarlyView.
Abstract Background and Purpose Plasma glucocorticoids increase acutely after MI, thereafter tissue levels are amplified selectively within cells expressing 11‐ßhydroxysteroid dehydrogenase type 1 (11‐ßHSD1) that regenerates active glucocorticoids from circulating metabolites.
Sara Al Disi, Raimondo Ascione, Shazia Khan, Thomas Johnson, Eva Sammut, Vito Domenico Bruno, Daniel Baz Lopez, Carol‐Anne James, Joanna Simpson, Natalie Z. Homer, Michael Millar, Trisha Singh, Alex von Kreigsheim, Nick L. Mills, Brian R. Walker, Ruth Andrew, Scott P. Webster, Andrew Whittaker, Adrian Freeman, Gillian A. Gray   +19 more
wiley   +1 more source

Serum Steroid Profiling by Liquid Chromatography–Tandem Mass Spectrometry for the Rapid Confirmation and Early Treatment of Congenital Adrenal Hyperplasia: A Neonatal Case Report

Metabolites, 2019
Congenital adrenal hyperplasia (CAH) describes a group of autosomal recessive disorders of steroid biosynthesis, in 95% of cases due to 21-hydroxylase deficiency.
Ilaria Cicalini, Stefano Tumini, Paola Irma Guidone, Damiana Pieragostino, Mirco Zucchelli, Sara Franchi, Gabriele Lisi, Pierluigi Lelli Chiesa, Liborio Stuppia, Vincenzo De Laurenzi, Claudia Rossi   +10 more
doaj   +1 more source

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.
J, Nakura, T, Miki, K, Fukuchi, K, Shimizu, O, Nose, S, Takai, P C, White, T, Honjo, Y, Kumahara   +8 more
openaire   +3 more sources

The proteomic differences and expression of fatty acid‐binding protein 6 (FABP6) associated with gastrointestinal injury in horses with oral administration of a clinical dose of phenylbutazone

Equine Veterinary Journal, EarlyView.
Abstract Background Phenylbutazone (PBZ) can potentially induce gastrointestinal ulceration, and early detection of PBZ‐induced gastroenteropathy will be useful for the diagnosis, treatment, and prevention of PBZ toxicity. Objectives To identify putative proteins associated with equine gastric ulcer syndrome after clinical dose (4.4 mg/kg ...
Ruethaiwan Vinijkumthorn, Nawarus Prapaiwan, Thanapon Chotikaprakal, Phirom Prompiram, Narumon Phaonakrop, Sittiruk Roytrakul, Parichart Tesena   +6 more
wiley   +1 more source

Steroid 21-Hydroxylase Mutations and 21-Hydroxylase Messenger Ribonucleic Acid Expression in Human Adrenocortical Tumors1 [PDF]

The Journal of Clinical Endocrinology & Metabolism, 1998
Twenty-one hydroxylase (P450c21) is a key enzyme essential for normal zona glomerulosa and fasciculata function. Recently, 21-hydroxylase deficiency has been implicated in the pathogenesis of adrenocortical tumors. Therefore, we investigated the mutational spectrum of the CYP21B gene and the messenger RNA expression of P450c21 in six aldosterone ...
Beuschlein, Felix, Schulze, Egbert, Mora, Patricia, Gensheimer, Hans-Peter, Maser-Gluth, Christiane, Allolio, Bruno, Reincke, Martin   +6 more
openaire   +2 more sources

Oxygen‐independent expression of HIF‐1α during the cell cycle in hepatocellular carcinoma cells controls essential metabolic pathways under normoxia

The FEBS Journal, EarlyView.
In Huh7 cells, HIF‐1α is essential as it maintains the expression of proteins involved in glycolysis and steroid/cholesterol biosynthesis both under normoxia and hypoxia. On the other hand, in HeLa cells, these pathways are induced by HIF‐1α only under hypoxia.
Ioanna‐Maria Gkotinakou, Christina Arseni, Kreon Koukoulas, Martina Samiotaki, George Panayotou, George Simos, Ilias Mylonis   +6 more
wiley   +1 more source