Results 11 to 20 of about 2,980 (198)
Molecular Genetics & Genomic Medicine, 2023 Background Congenital adrenal hyperplasia (CAH) due to 21‐hydroxylase (21OH) deficiency is an autosomal recessive inborn error of cortisol biosynthesis, with varying degrees of aldosterone production.
Qizong Lao +4 more
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Variant predictions in congenital adrenal hyperplasia caused by mutations in CYP21A2
Frontiers in Pharmacology, 2022 CYP21A2 deficiency represents 95% of congenital adrenal hyperplasia (CAH) cases, a group of genetic disorders that affect steroid biosynthesis. The genetic and functional analysis provide critical tools to elucidate complex CAH cases.
Mayara J. Prado +10 more
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Characterization of Mutations Causing CYP21A2 Deficiency in Brazilian and Portuguese Populations [PDF]
International Journal of Molecular Sciences, 2021 Deficiency of Cytochrome P450 Steroid 21-hydroxylase (CYP21A2) represents 90% of cases in congenital adrenal hyperplasia (CAH), an autosomal recessive disease caused by defects in cortisol biosynthesis. Computational prediction along with functional studies are often the only way to classify variants to understand the links to disease-causing effects ...
Mayara Jorgens Prado +9 more
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Molecular genetic analysis of CYP21A2 gene in patients with congenital adrenal hyperplasia
Indian Journal of Endocrinology and Metabolism, 2012 Context: Congenital adrenal hyperplasia (CAH) is one of the inborn errors of metabolic disorder inherited in an autosomal recessive manner caused by the defects in the steroid 21 hydroxylase CYP21A2 gene.
Eunice Marumudi +5 more
doaj +3 more sources
Comprehensive Mutation Analysis of the CYP21A2 Gene [PDF]
The Journal of Molecular Diagnostics, 2013 Xu Zhi +3 more
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cyp21a2 Knockout Tadpoles Survive Metamorphosis Despite Low Corticosterone [PDF]
Endocrinology, 2022 Abstract Corticosteroids are so vital for organ maturation that reduced corticosteroid signaling during postembryonic development causes death in terrestrial vertebrates. Indeed, death occurs at metamorphosis in frogs lacking proopiomelanocortin (pomc) or the glucocorticoid receptor (GR; nr3c1).
Bidisha Paul +2 more
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HIV Drug Efavirenz Inhibits CYP21A2 Activity with Possible Clinical Implications [PDF]
Hormone Research in Paediatrics, 2019 <b><i>Background:</i></b> The HIV drugs lopinavir and ritonavir have recently been reported to cause transient adrenal insufficiency in preterm newborns. We, therefore, considered HIV drugs as a cause of transiently elevated 17-hydroxyprogesterone (17OHP) levels in a neonatal screening test for congenital adrenal hyperplasia in ...
Jana Malíková +9 more
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Advances in Laboratory Medicine, 2023 La recombinación entre CYP21A2-TNXB y sus respectivos pseudogenes (CYP21A1P-TNXA) da lugar a quimeras responsables del síndrome CAH-X (SCAH-X). Los pacientes con este síndrome presentan manifestaciones clínicas de hiperplasia suprarrenal congénita (HSC ...
Martínez Figueras Laura +4 more
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Advances in Laboratory Medicine, 2023 The chimeras causing the CAH-X syndrome (SCAH-X) result from recombination between CYP21A2-TNXB and their respective pseudogenes (CYP21A1P-TNXA). The clinical manifestations of this syndrome include congenital adrenal hyperplasia (CAH) and Ehlers–Danlos ...
Figueras Laura Martínez +4 more
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JCRPE, 2021 Steroid 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH), usually due to biallelic variants in CYP21A2. Classical 21-hydroxylase deficiency is characterised by virilisation of the external genitalia in females ...
Tuğba Kontbay, İhsan Turan
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