Results 31 to 40 of about 2,714 (169)
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 J. Prado +9 more
openaire +3 more sources
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
doaj +1 more source
Common genetic variants of the human steroid 21-hydroxylase gene (CYP21A2) are related to differences in circulating hormone levels. [PDF]
PLoS ONE, 2014 Systematic evaluation of the potential relationship between the common genetic variants of CYP21A2 and hormone levels.The relationships of CYP21A2 intron 2 polymorphisms and haplotypes with diverse baseline and stimulated blood hormone levels were ...
Márton Doleschall +13 more
doaj +1 more source
Data in Brief, 2017 This article presents the dataset regarding spectrum of mutations in 21-Hydroxylase deficient CAH patients as described in “The spectrum of CYP21A2 mutations in Congenital Adrenal Hyperplasia in an Indian cohort” (R. Khajuria, R. Walia, A.
Ragini Khajuria +3 more
doaj +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 +4 more
doaj +1 more source
Molecular basis and genetic testing strategies for diagnosing 21-hydroxylase deficiency, including CAH-X syndrome [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2023 Congenital adrenal hyperplasia (CAH) is a group of autosomally recessive disorders that result from impaired synthesis of glucocorticoid and mineralocorticoid.
Ja Hye Kim +3 more
doaj +1 more source
BMC Medical Genetics, 2008 Background Research indicates that the etiology of autism has a strong genetic component, yet so far the search for genes that contribute to the disorder, including several whole genome scans, has led to few consistent findings.
Odell J Dennis +3 more
doaj +1 more source
Mutation Analysis of the CYP21A2 Gene in the Iranian Population [PDF]
Genetic Testing and Molecular Biomarkers, 2012 Defects in the CYP21A2 gene cause steroid 21-hydroxylase deficiency, which is the most frequent cause of congenital adrenal hyperplasia. Forty four affected families were investigated to identify the mutation spectrum of the CYP21A2 gene.Families were subjected to clinical, biochemical, and molecular analyses.
Rabbani, B. +8 more
openaire +2 more sources
BMC Medical Genetics, 2009 Background More than 90% of Congenital Adrenal Hyperplasia (CAH) cases are associated with mutations in the 21-hydroxylase gene (CYP21A2) in the HLA class III area on the short arm of chromosome 6p21.3.
Toscano Vincenzo +6 more
doaj +1 more source
Characteristics of In2G Variant in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
Frontiers in Endocrinology, 2022 Substantial research has been performed during the last decades on the clinical and genetic variability of congenital adrenal hyperplasia (CAH) and its most common form, 21-hydroxylase deficiency (21OHD).
Mirjana Kocova +3 more
doaj +1 more source