Results 11 to 20 of about 3,461 (195)

Variations in the 3′UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia [PDF]

International Journal of Endocrinology, 2017
Heterozygosity for CYP21A2 mutations in females is possibly related to increased risk of developing clinical hyperandrogenism. The present study was designed to seek evidence on the phenotype-genotype correlation in female children, adolescents, and ...
Vassos Neocleous, Pavlos Fanis, Meropi Toumba, Alexia A. P. Phedonos, Michalis Picolos, Elena Andreou, Tassos C. Kyriakides, George A. Tanteles, Christos Shammas, Leonidas A. Phylactou, Nicos Skordis   +10 more
doaj   +4 more sources

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, Arundhati Sharma, Bindu Kulshreshtha, Rajesh Khadgawat, Madan L Khurana, Ariachery C Ammini   +5 more
doaj   +4 more sources

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, Shripriya Singh, Rodrigo Ligabue-Braun, Bruna V. Meneghetti, Thaiane Rispoli, Cristiane Kopacek, Karina Monteiro, Arnaldo Zaha, Maria L. R. Rossetti, Amit V. Pandey   +9 more
openaire   +4 more sources

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., Mahdieh, N., Ashtiani, M. T. H., Larijani, B., Akbari, M. T., New, M., Parsa, A., Schouten, J. P., Rabbani, A.   +8 more
openaire   +4 more sources

Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera

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, Deepika D. Burkardt, Sarah Kollender, Fabio R. Faucz, Deborah P. Merke   +4 more
doaj   +3 more sources

Data on the 21-Hydroxylase deficient CAH patients and the identification of known/novel mutations in CYP21A2 gene

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, Rama Walia, Anil Bhansali, Rajendra Prasad   +3 more
doaj   +2 more sources

CYP21A2 Mutations in Women with Polycystic Ovary Syndrome (PCOS)

Hormone and Metabolic Research, 2013
The question of the contribution of CYP21A2 heterozygosity to the development of polycystic ovary syndrome (PCOS) has repeatedly been raised in the literature. The available data, however, do not offer a satisfactory answer. The discrepancy must be attributed, primarily, to the small number of subjects in the various studies, the type of selected ...
Settas, N., Dracopoulou-Vabouli, M., Dastamani, A., Katsikis, I., Chrousos, G., Panidis, D., Dacou-Voutetakis, C.   +6 more
openaire   +4 more sources

In Silico Structural and Biochemical Functional Analysis of a Novel CYP21A2 Pathogenic Variant [PDF]

International Journal of Molecular Sciences, 2020
Classical congenital adrenal hyperplasia (CAH) caused by pathogenic variants in the steroid 21-hydroxylase gene (CYP21A2) is a severe life-threatening condition. We present a detailed investigation of the molecular and functional characteristics of a novel pathogenic variant in this gene.
Michal Cohen, Emanuele Pignatti, Monica Dines, Adi Mory, Nina Ekhilevitch, Rachel Kolodny, Christa E. Flück, Dov Tiosano   +7 more
openaire   +5 more sources

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 ...
Malikova, Jana, Zingg, Tanja, Fingerhut, Ralph, Sluka, Susanna, Grössl, Michael, Brixius-Anderko, Simone, Bernhardt, Rita, McDougall, Jane, Pandey, Amit V, Flück, Christa E   +9 more
openaire   +5 more sources

CYP21A2 intronic variants causing 21-hydroxylase deficiency

Metabolism, 2017
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder mainly caused by defects in the steroid 21-hydroxylase gene (CYP21A2). Most of CYP21A2 mutations result from intergenic recombinations between CYP21A2 and closely linked CYP21A1P pseudogene.
Concolino, P, Rizza, R, Costella, A, Carrozza, C, Zuppi, C, Capoluongo, E.   +5 more
openaire   +4 more sources