Results 1 to 10 of about 5,009 (204)

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

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

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

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, Mayara J. Prado, Mayara J. Prado, Mayara J. Prado, Rodrigo Ligabue-Braun, Arnaldo Zaha, Arnaldo Zaha, Maria Lucia Rosa Rossetti, Maria Lucia Rosa Rossetti, Amit V. Pandey, Amit V. Pandey   +10 more
doaj   +4 more sources

Case Report: Compound heterozygous mutation comprising p.Pro31Leu and exons 1–3 ins/del variants in CYP21A2 causes non-classical congenital adrenal hyperplasia in a Chinese girl [PDF]

Frontiers in Pediatrics
Congenital adrenal hyperplasia (CAH) is caused by variants in the CYP21A2 gene and subsequently results in 21-hydroxylase deficiency. The non-classic form of CAH (NCCAH) often occurs in late puberty or in young adults due to a mild excess in postnatal ...
Nan Li, Chao Lu, Harvest F. Gu, Harvest F. Gu, Xiaofei An   +4 more
doaj   +2 more sources

Long-Read Sequencing of CAH and ADPKD Provides Novel Insights Into the Genetic Diagnosis of Male Infertility. [PDF]

Reprod Med Biol
ABSTRACT Purpose This study aimed to evaluate the utility of long‐read sequencing (LRS) in identifying variants of congenital adrenal hyperplasia (CAH) and autosomal dominant polycystic kidney disease (ADPKD) in infertile men, which may help further clarify genetic diagnosis and support genetic counseling and reproductive management. Methods A total of
Li X, Liu C, Liu W, Wang X, Liu J, Cai F, Lu S.   +6 more
europepmc   +2 more sources

Genetic characterization and screening of congenital adrenal hyperplasia by long-read sequencing in a cohort of 21,239 newborns [PDF]

Genome Medicine
Background Comprehensive genetic characterization and screening for congenital adrenal hyperplasia (CAH) have not yet been achieved at the population level because of the complexity of the CYP21A2 locus.
Desheng Liang, Min Zhu, Qiaowei Liang, Rong Qiang, Lei Yu, Shiyi Xu, Menglin Li, Jieping Song, Yulin Zhou, Xiaoyan He, Yonglan Huang, Hua Jin, Jianqiang Tan, Hui Liu, Aihua Xia, Yingdi Liu, Peisen Liu, Zhuo Li, Ruifang Wang, Dongjuan Wang, Ruixue Zhang, Qian Pu, Jinfu Zhou, Runhong Xu, Xudong Wang, Minyi Tan, Dayu Chen, Chaoyan Wu, Di Cui, Aiping Mao, Wenhao Zhou, Wenjuan Qiu, Lingqian Wu   +32 more
doaj   +2 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

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

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