Results 91 to 100 of about 35,670 (271)

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
Toshihiro Ohura, Yoichi Matsubara, Kazuie Iinuma, Yutaka Igarashi, Eishin Ogawa, Sachiko Sato, Aki Asanuma   +6 more
openaire   +3 more sources

Unveiling the Crucial Intermediates in Androgen Production [PDF]

, 2015
Significance: The human enzyme cytochrome P450 17A1 (CYP17A1) catalyzes the critical step in the biosynthesis of the male sex hormones, and, as such, it is a key target for the inhibition of testosterone production that is necessary for the progression ...
Denisov, Ilia G., Gregory, Michael C., Kincaid, James R., Mak, Piotr J., Sligar, Stephen G.   +4 more
core   +2 more sources

Mitonuclear Communication in Stem Cell Function

Cell Proliferation, EarlyView.
In this review, we highlight the critical functions of mitonuclear communication and its impact on mitochondrial proteostasis. Additionally, we examine how mitonuclear signalling influences stem cell function, offering new insights into cellular homeostasis, stem cell therapies, and the potential for lifespan extension.
Baozhou Peng, Yaning Wang, Hongbo Zhang
wiley   +1 more source

Steroid Receptors and Vertebrate Evolution [PDF]

arXiv, 2019
Considering that life on earth evolved about 3.7 billion years ago, vertebrates are young, appearing in the fossil record during the Cambrian explosion about 542 to 515 million years ago. Results from sequence analyses of genomes from bacteria, yeast, plants, invertebrates and vertebrates indicate that receptors for adrenal steroids (aldosterone ...
arxiv  

Corticosteroid Activation of Atlantic Sea Lamprey Corticoid Receptor: Allosteric Regulation by the N-terminal Domain [PDF]

arXiv, 2022
Lampreys are jawless fish that evolved about 550 million years ago at the base of the vertebrate line. Modern lampreys contain a corticoid receptor (CR), the common ancestor of the glucocorticoid receptor (GR) and mineralocorticoid receptor (MR), which first appear in cartilaginous fish, such as sharks.
arxiv  

Cushing's disease in a patient with steroid 21-hydroxylase deficiency

Endocrine Journal, 2011
Cushing's disease rarely appears as a consequence of hereditary disease. However, familial diseases with diminished glucocorticoid feedback are associated with secondary hypercorticotropinism and have been shown to give rise to pituitary adenomas. We here describe the rare case of a 30-year old female patient with congenital adrenal hyperplasia who ...
Elke Kaminsky, Reimar Fritzen, Matthias Schott, Holger S. Willenberg, Werner A. Scherbaum, Sven Schinner, Matthias Haase, Wolfgang Saeger, Dieter K. Lüdecke   +8 more
openaire   +4 more sources

Gonadal Location of the Enzymes Steroid 11β- and 21-Hydroxylases [PDF]

Bolletino di zoologia, 1975
Abstract Experimental evidence concerning the presence of the corticosteroidogenic enzymes steroid 11β- and 21-hydroxylases in the gonads of vertebrates, echinoderms, crustaceans and molluscs is reviewed. The contribution of these enzymes to gonadal hormonal steroidogenesis in the different groups is discussed.
Lorenzo Colombo, Paola Belvedere
openaire   +1 more source

Placenta-specific methylation of the vitamin D 24-hydroxylase gene: implications for feedback autoregulation of active vitamin D levels at the fetomaternal interface [PDF]

, 2009
Plasma concentrations of biologically active vitamin D (1,25- (OH)2D) are tightly controlled via feedback regulation of renal 1-hydroxylase (CYP27B1; positive) and 24-hydroxylase (CYP24A1; catabolic) enzymes.
Albertson, Anderson, Arai, Avila, Barrera, Barrera, Bock, Bodnar, Boris Novakovic, Carter, Chaddha, Chiu, Chung, Coan, d'Alesio, Danielle Evain-Brion, Davis, Deeb, DeLuca, Delvin, Delvin, Diaz, Dimitriadis, Dodds, Du, Dusso, Eva Dimitriadis, Evans, Evans, Fischer, Friso, Holick, Hong Kiat Ng, Jeffrey M. Craig, Jennings, Kim, Kohler, Kovacs, Kumar, Lauridsen, Leader, Lechner, Li, Liu, Lohnes, Lopez, Lopez, Makin, Malloy, Mandy Sibson, Masuda, Muller, Murayama, Nelen, Nelen, Nelen, Novakovic, Ohyama, Pattillo, Pattillo, Paulson, Pavan, Peehl, Pendas-Franco, Pospechova, Rahnama, Rakyan, Richard Saffery, Ron, Ross, Ross, Ruth Morley, Salle, Seely, Serman, Shih Ie, Sikora, Siu-Caldera, Soundararajan, Stephan Beck, Stephanou, Sung, Tapia, Tashiro, Taylor, Thierry Fournier, Thomas Down, Tsang, Ursula Manuelpillai, Valdivielso, van der Molen, Vardhman Rakyan, Vigano, von Rango, Whitfield, Wietrzyk, Wong, Wong, Xie, Zehnder, Zhang, Zhou   +101 more
core   +3 more sources

Derivatives of MOPS: promising scaffolds for SARS coronaviruses Macro domain‐targeted inhibition

The FEBS Journal, EarlyView.
The SARS‐CoV/CoV‐2 genome encodes non‐structural protein 3, which contains a ‘Macro domain’. This protein domain exhibits antagonistic activity against interferon signaling, which disrupts the host innate immune response and can thus mediate viral escape, highlighting its therapeutic potential.
Oney Ortega Granda, Karine Alvarez, Benjamin Morin, Bruno Canard, François Ferron, Nadia Rabah   +5 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