Results 11 to 20 of about 4,947 (206)

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, Julianna Anna Szabó, Júlia Pázmándi, Ágnes Szilágyi, Klára Koncz, Henriette Farkas, Miklós Tóth, Péter Igaz, Edit Gláz, Zoltán Prohászka, Márta Korbonits, Károly Rácz, George Füst, Attila Patócs   +13 more
doaj   +7 more sources

A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form [PDF]

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, Zuppi Cecilia, Giardina Emiliano, Minucci Angelo, Mello Enrica, Concolino Paola, Capoluongo Ettore   +6 more
doaj   +2 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

Both positive and negative selection pressures contribute to the polymorphism pattern of the duplicated human CYP21A2 gene. [PDF]

PLoS ONE, 2013
The human steroid 21-hydroxylase gene (CYP21A2) participates in cortisol and aldosterone biosynthesis, and resides together with its paralogous (duplicated) pseudogene in a multiallelic copy number variation (CNV), called RCCX CNV.
Julianna Anna Szabó, Ágnes Szilágyi, Zoltán Doleschall, Attila Patócs, Henriette Farkas, Zoltán Prohászka, Kárioly Rácz, George Füst, Márton Doleschall   +8 more
doaj   +6 more sources

Mutation Analysis of the CYP21A2 Gene in the Iranian Population [PDF]

Genetic Testing and Molecular Biomarkers, 2012
Background: 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 ...
Akbari, M. T., Ashtiani, M. T. H., Larijani, B., Mahdieh, N., New, M., Parsa, A., Rabbani, A., Rabbani, B., Schouten, J. P.   +8 more
core   +4 more sources

Heterozigose para mutação no gene CYP21A2 considerada como deficiência de 21-hidroxilase na triagem neonatal [PDF]

Arquivos Brasileiros de Endocrinologia & Metabologia, 2008
Steroid 21-hydroxylase deficiency (21-OHD) accounts for more than 90% of congenital adrenal hyperplasia. CAH newborn screening, in general, is based on 17-hydroxyprogesterone dosage (17-OHP), however it is complicated by the fact that healthy preterm ...
Bernardi, Renan Darin, Coeli, Fernanda Borchers, Justo, Giselle Zenker, Lemos-Marini, Sofia Helena Valente de, Maturana, Víctor Gonçalves, Mello, Maricilda Palandi de, Silva, Márcia Duarte Barbosa da, Soardi, Fernanda Caroline   +7 more
core   +8 more sources

Phenotypic variability of hyperandrogenemia in females heterozygous for CYP21A2 mutations

Indian Journal of Endocrinology and Metabolism, 2014
Objectives: The objective was to seek evidence on the prevalence and consequences of heterozygous CYP21A2 mutations in girls, adolescent, and adult females with clinical manifestation of androgen excess.
Vassos Neocleous, Christos Shammas, Alexia AP Phedonos, Leonidas A Phylactou, Nicos Skordis   +4 more
doaj   +3 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   +3 more sources

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   +3 more sources

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, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi   +3 more
doaj   +1 more source