Results 31 to 40 of about 2,389,640 (367)

Congenital adrenal hyperplasia: focus on the molecular basis of 21-hydroxylase deficiency [PDF]

, 2007
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by defects in one of several steroidogenic enzymes involved in the synthesis of cortisol from cholesterol in the adrenal glands.
Friães, A, Gonçalves, J, Moura, L
core   +1 more source

Functional studies of p.R132C, p.R149C, p.M283V, p.E431K, and a novel c.652-2A>G mutations of the CYP21A2 gene [PDF]

, 2014
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is the most frequent inborn error of metabolism and accounts for 90–95% of CAH cases.
Bruque, Carlos David, Buzzalino, Noemí Delia, Ceballos, Nora Raquel, Dain, Liliana Beatriz, Gómez Acuña, Luciana Inés, Scaia, María Florencia, Stivel, M., Taboas, Melisa Ivana   +7 more
core   +7 more sources

The impact of 21-hydroxylase deficiency on cardiac repolarization changes in children with 21-hydroxylasedeficient congenital adrenal hyperplasia

The Turkish Journal of Pediatrics, 2019
21-hydroxylase-deficient congenital adrenal hyperplasia (CAH) is associated with cardiovascular risk factors such as, hypertension, obesity, dyslipidemia, and insulin resistance.
Hüseyin Anıl Korkmaz, Rahmi Özdemir, Mehmet Küçük, Cem Karadeniz, Timur Meşe, Behzat Özkan   +5 more
doaj   +1 more source

POR polymorphisms are associated with 21 hydroxylase deficiency [PDF]

Journal of Endocrinological Investigation, 2021
Abstract Purpose Genotype–phenotype correlation in congenital 21 hydroxylase deficiency is strong but by no means absolute. Indeed, clinical and hormonal features may vary among patients carrying similar CYP21A2 mutations, suggesting that modifier genes may contribute to the phenotype.
Pecori Giraldi F., Einaudi S., Sesta A., Verna F., Messina M., Manieri C., Menegatti E., Ghizzoni L.   +7 more
openaire   +3 more sources

Screening for Mutations of 21-Hydroxylase Gene in Hungarian Patients with Congenital Adrenal Hyperplasia [PDF]

, 1999
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders, causing impaired secretion of cortisol and aldosterone from the adrenal cortex, with subsequent overproduction of adrenal androgens.
Barta, Csaba, Fekete, György, Ferenczi, Anna, Garami, Miklós, Kiss, Eszter, Pék, Mónika, Sasvári-Székely, Mária, Staub, Mária, Sólyom, János   +8 more
core   +1 more source

Steroid 21-hydroxylase gene variants and late-life depression

BMC Research Notes, 2021
Objectives A feature of late-life depression is alterations of the stress hormone system. The CYP21A2 gene encodes for the steroid 21-hydroxylase enzyme which is required for the biosynthesis of mineralocorticoids and glucocorticoids, two main components
Marie-Laure Ancelin, Joanna Norton, Karen Ritchie, Isabelle Chaudieu, Joanne Ryan   +4 more
doaj   +1 more source

Structure Elucidation, Total Synthesis, Antibacterial In Vivo Efficacy and Biosynthesis Proposal of Myxobacterial Corramycin**

Angewandte Chemie International Edition, Volume 61, Issue 51, December 19, 2022., 2022
Corramycin is a novel natural product produced by the myxobacterium Corallococcus coralloides. The structure, extraordinary total synthesis and biosynthesis of the antibiotic is described for the first time. Its promise as an in vivo septicemia model, the absence of cross‐resistance with commonly used antibiotic classes, and the lack of cytotoxicity ...
Cédric Couturier, Sebastian Groß, Alexander von Tesmar, Judith Hoffmann, Selina Deckarm, Anouchka Fievet, Nelly Dubarry, Thomas Taillier, Christoph Pöverlein, Heike Stump, Michael Kurz, Luigi Toti, Sabine Haag Richter, Dietmar Schummer, Philippe Sizun, Michael Hoffmann, Ram Prasad Awal, Nestor Zaburannyi, Kirsten Harmrolfs, Joachim Wink, Emilie Lessoud, Thierry Vermat, Veronique Cazals, Sandra Silve, Armin Bauer, Michael Mourez, Laurent Fraisse, Corinne Leroi‐Geissler, Astrid Rey, Stéphanie Versluys, Eric Bacqué, Rolf Müller, Stephane Renard   +32 more
wiley   +1 more source

The Role of Cytochrome P450 AbyV in the Final Stages of Abyssomicin C Biosynthesis

Angewandte Chemie International Edition, Volume 62, Issue 3, January 16, 2023., 2023
The cytochrome P450 enzyme AbyV catalyses a key epoxidation in the final stages of the biosynthesis of the spirotetronate antibiotic abyssomicin C. Combining structural and computational data with a 13C labelling strategy was found to be a powerful approach to interrogate the biotransformation and determine the precise function of the enzyme.
Andrew J. Devine, Alice E. Parnell, Catherine R. Back, Nicholas R. Lees, Samuel T. Johns, Ainul Z. Zulkepli, Rob Barringer, Katja Zorn, James E. M. Stach, Matthew P. Crump, Martin A. Hayes, Marc W. van der Kamp, Paul R. Race, Christine L. Willis   +13 more
wiley   +1 more source

Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline.

Journal of Clinical Endocrinology and Metabolism, 2010
OBJECTIVE We developed clinical practice guidelines for congenital adrenal hyperplasia (CAH). PARTICIPANTS The Task Force included a chair, selected by The Endocrine Society Clinical Guidelines Subcommittee (CGS), ten additional clinicians experienced ...
P. Speiser, R. Azziz, L. Baskin, L. Ghizzoni, T. Hensle, D. Merke, H. Meyer-Bahlburg, W. Miller, V. Montori, S. Oberfield, M. Ritzén, P. White   +11 more
semanticscholar   +1 more source

IS CONGENITAL ADRENAL HYPERPLASIA DUE TO 21- HYDROXYLASE DEFICIENCY DECEPTIVE DISEASE? MANAGEMENT AND DIFFERENTIATION OF SYNDROME IN ADULTS

Праці Наукового товариства імені Шевченка. Медичні науки, 2017
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase defi ciency is one of the most common autosomal recessive hereditary diseases. The lack of cortisol synthesis leads to excessive stimulation of the adrenal glands by adrenocorticotropic hormone ...
Anna Nowak
doaj   +1 more source