| Molecular diagnosis of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. | Molecular diagnosis of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Espinosa Reyes TM, Collazo Mesa T, Lantigua Cruz PA, Agramonte Machado A, Domínguez Alonso E, Falhammar H., Free PMC Article | 08/21/2021 |
| The prevalence of heterozygous CYP21A2 deficiency in patients with idiopathic acne, hirsutism, or both. | The prevalence of heterozygous CYP21A2 deficiency in patients with idiopathic acne, hirsutism, or both.
Gao Y, Yu B, Mao J, Wang X, Nie M, Wu X. | 07/10/2021 |
| Steroid 21-hydroxylase gene variants and late-life depression. | Steroid 21-hydroxylase gene variants and late-life depression.
Ancelin ML, Norton J, Ritchie K, Chaudieu I, Ryan J., Free PMC Article | 07/10/2021 |
| The spectrum of CYP21A2 gene mutations in patients with classic salt wasting form of 2l-hydroxylase deficiency in a Chinese cohort. | The spectrum of CYP21A2 gene mutations in patients with classic salt wasting form of 2l-hydroxylase deficiency in a Chinese cohort.
Liu Y, Zheng J, Liu N, Xu X, Zhang X, Zhang Y, Li G, Liu G, Cai C, Shu J., Free PMC Article | 06/12/2021 |
| Assessment of the most common CYP21A2 point mutations in a cohort of congenital adrenal hyperplasia patients from Egypt. | Assessment of the most common CYP21A2 point mutations in a cohort of congenital adrenal hyperplasia patients from Egypt.
Essawi M, Mazen I, Fawaz L, Hassan H, ElBagoury N, Peter M, Gaafar K, Amer M, Nabil W, Hohmann G, Soliman H, Sippell W. | 05/29/2021 |
| Is the unique benzodiazepine structure interacting with CYP enzymes to affect steroid synthesis in vitro? | Is the unique benzodiazepine structure interacting with CYP enzymes to affect steroid synthesis in vitro?
Johannsen ML, Munkboel CH, Jørgensen FS, Styrishave B. | 05/8/2021 |
| Simple virilising congenital adrenal hyperplasia in monozygotic twins: A rare report and review of previous cases.", trans "Wrodzony przerost nadnerczy z prosta wirylizacja u blizniat monozygotycznych: opis rzadkiego przypadku i przeglad wczesniejszych przypadkow. | Simple virilising congenital adrenal hyperplasia in monozygotic twins: A rare report and review of previous cases.
Muthuvel B, Gautam A, Pal R, Panigrahi I, Dayal D. | 03/20/2021 |
| [Clinical characteristics of 21 infertile women with non-classic 21-hydroxylase deficiency]. | [Clinical characteristics of 21 infertile women with non-classic 21-hydroxylase deficiency].
Pan P, Zheng LY, Fang LL, Chen XL, Huang J, Zhang QX, Yang DZ, Xie MQ, Li Y. | 03/13/2021 |
| 21-Hydroxylase deficiency: Mutational spectrum and Genotype-Phenotype relations analyses by next-generation sequencing and multiplex ligation-dependent probe amplification. | 21-Hydroxylase deficiency: Mutational spectrum and Genotype-Phenotype relations analyses by next-generation sequencing and multiplex ligation-dependent probe amplification.
Turan I, Tastan M, Boga DD, Gurbuz F, Kotan LD, Tuli A, Yüksel B. | 12/5/2020 |
| A novel function of CYP21A2 in regulating cell migration and invasion via Wnt signaling. | A novel function of CYP21A2 in regulating cell migration and invasion via Wnt signaling.
Guo Y, Rehati A, Wu Z, Zhang W, Zhuang P, He F. | 11/28/2020 |
| [Correlation between variants of CYP21A2 gene promoter region and nonclassical 21-hydroxylase deficiency]. | [Correlation between variants of CYP21A2 gene promoter region and nonclassical 21-hydroxylase deficiency].
Huang S, Su Z, Zhang L, Zhao X, Wen P. | 11/21/2020 |
| Overall, the detection rate of CYP21A2 mutation was 97.9%, which revealed 25 mutations and 36 genotypes. Four novel mutations (p.L199X, p.E321del, p.H393Q, and p.L459-P464del) were detected and induced a significantly reduced 21-hydroxylase activity. The most common genotypes in Chinese population were I2G/I2G (12.5%), I2G/Large lesion (12.1%), I173N/I2G (10.3%), and I173N/Large lesion (9.2%). | Genotype-phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21-hydroxylase deficiency.
Xu C, Jia W, Cheng X, Ying H, Chen J, Xu J, Guan Q, Zhou X, Zheng D, Li G, Zhao J., Free PMC Article | 06/27/2020 |
| Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is caused by mutations in the CYP21A2 gene. | The Spectrum of Genetic Defects in Congenital Adrenal Hyperplasia in the Population of Cyprus: A Retrospective Analysis.
Neocleous V, Fanis P, Toumba M, Stylianou C, Picolos M, Andreou E, Kyriakou A, Iasonides M, Nicolaou S, Kyriakides TC, Tanteles GA, Skordis N, Phylactou LA. | 05/30/2020 |
| Obligate CYP21A2 carriers of a classic mutation had a reduced mortality. Specifically, a possible reduced mortality due to pneumonia was seen. | Carriers of a Classic CYP21A2 Mutation Have Reduced Mortality: A Population-Based National Cohort Study.
Nordenström A, Svensson J, Lajic S, Frisén L, Nordenskjöld A, Norrby C, Almqvist C, Falhammar H. | 05/30/2020 |
| Mutation in the CYP21A2 gene is associated with 21-hydroxylase deficiency. | The distribution of intrafamilial CYP21A2 mutant alleles and investigation of clinical features in Turkish children and their siblings in Southeastern Anatolia.
Karaoglan M. | 05/16/2020 |
| Mutation was detected in each allele of CYP21A2 gene in 401 (78.0%) patients, ninety (17.5%) had only one mutant allele and 23 (4.5%) had no mutation | [Detection of CYP21A2 gene mutations and the differences in the levels of hormones in patients with 21-hydroxylase deficiency].
Gao YJ, Yu BQ, Lu L, Wu XY, Mao JF, Wang X, Tong AL, Chen S, Nie M. | 04/25/2020 |
| CYP21A2 gene p.V281L mutation can be used as a genetic marker for susceptibility to familial frontal fibrosing alopecia. Both the linkage of the mutation to F16A and the fact that F16A-negative patients share other human leukocyte antigen class I haplotype, point to an antigen-driven mechanism in susceptible patients with these haplotypes. | Study of Human Leukocyte Antigen (HLA) in 13 cases of familial frontal fibrosing alopecia: CYP21A2 gene p.V281L mutation from congenital adrenal hyperplasia linked to HLA class I haplotype HLA-A*33:01; B*14:02; C*08:02 as a genetic marker.
Porriño-Bustamante ML, López-Nevot MÁ, Aneiros-Fernández J, Casado-Ruiz J, García-Linares S, Pedrinacci-Rodríguez S, García-Lora E, Martín-Casares MA, Fernández-Pugnaire MA, Arias-Santiago S. | 02/1/2020 |
| copy deletion of CYP21A2 includes one allele deletion of CYP21A2 gene and fused CYP21A1P/CYP21A2 gene | [Analysis of copy number variation of CYP21A2 gene and the type of CYP21A1P/CYP21A2 fused gene in patients with 21-hydroxylase deficiency].
Gao YJ, Yu BQ, Lu L, Wu XY, Mao JF, Wang X, Tong AL, Chen S, Nie M. | 01/11/2020 |
| CYP21A2 Gene Pathogenic Variants: A Multicenter Study on Genotype-Phenotype Correlation from a Portuguese Pediatric Cohort. | CYP21A2 Gene Pathogenic Variants: A Multicenter Study on Genotype-Phenotype Correlation from a Portuguese Pediatric Cohort.
Santos-Silva R, Cardoso R, Lopes L, Fonseca M, Espada F, Sampaio L, Brandão C, Antunes A, Bragança G, Coelho R, Bernardo T, Vieira P, Morais R, Leite AL, Ribeiro L, Carvalho B, Grangeia A, Oliveira R, Oliveira MJ, Rey V, Rosmaninho-Salgado J, Marques B, Garcia AM, Meireles A, Carvalho J, Sequeira A, Mirante A, Borges T, on behalf of the Portuguese Society of Pediatric Endocrinology and Diabetology. | 11/30/2019 |
| Novel non-classic CYP21A2 variants, including combined alleles, identified in patients with congenital adrenal hyperplasia. | Novel non-classic CYP21A2 variants, including combined alleles, identified in patients with congenital adrenal hyperplasia.
Karlsson L, de Paula Michelatto D, Lusa ALG, D'Almeida Mgnani Silva C, Östberg LJ, Persson B, Guerra-Júnior G, Valente de Lemos-Marini SH, Baldazzi L, Menabó S, Balsamo A, Greggio NA, Palandi de Mello M, Barbaro M, Lajic S. | 11/23/2019 |
| majority of 21-hydroxylase deficiency patients carried CYP21A2 gene variants in homozygous or compound heterozygous forms, among which the p.Ile173Asn was the most common one | [Analysis of clinical phenotypes and CYP21A2 gene variants in 18 patients with 21-hydroxylase deficiency].
Zheng R, Zhang L, Yuan Q, Man H, Yang J, Wang Y, Hu Z, Zhang H. | 08/31/2019 |
| Establishing a diagnosis of congenital adrenal hyperplasia on the basis of biochemical and clinical data is occasionally challenging, and the identification of CYP21A2 mutations may help confirm the diagnosis. There were diagnostic challenges despite an extensive genetic evaluation for 14 patients with a suspected clinical and biochemical diagnosis of congenital adrenal hyperplasia. | CYP21A2 genetic profile in 14 Egyptian children with suspected congenital adrenal hyperplasia: a diagnostic challenge.
Elmougy F, Sharaf S, Hafez M, Khattab A, Abou-Yousef H, Elsharkawy M, Baz H, Ekladious S, Sherif B, Musa N, Elshiwy Y, Afif A, Abdullatif M, Thabet G, Rady N, Ibrahim A, Soliman H. | 08/3/2019 |
| We inferred q estimates of 2.87% and 1.83%, corresponding to a prevalence of 1/1214 and 1/2986, respectively. CYP21A2 mutational spectra were quite discrepant between the 2 cohorts, with V281L representing 74% of all the mutations detected in Sardinia vs 37% in mainland Italy | A genetic epidemiology study of congenital adrenal hyperplasia in Italy.
Gialluisi A, Menabò S, Baldazzi L, Casula L, Meloni A, Farci MC, Mariotti S, Balestrino L, Ortolano R, Murru S, Carcassi C, Loche S, Balsamo A, Romeo G. | 08/3/2019 |
| P450c21 showed decreased activity in lean polycystic ovary syndrome patients in comparison to obese polycystic ovary syndrome patients. | Steroid hormone profiling in obese and nonobese women with polycystic ovary syndrome.
Deng Y, Zhang Y, Li S, Zhou W, Ye L, Wang L, Tao T, Gu J, Yang Z, Zhao D, Gu W, Hong J, Ning G, Liu W, Wang W., Free PMC Article | 07/20/2019 |
| It was found that progesterone (P4) modulated the both kinetic and equilibrium constants of CYB5A/CYP17A1 and CYB5/CYP21A2 complex formation and complexes, while not affecting the CYB5A/CYP2C19 interaction. | SPR-Based study of affinity of cytochrome P450s / redox partners interactions modulated by steroidal substrates.
Ershov PV, Yablokov ЕO, Florinskaya AV, Mezentsev YV, Kaluzhskiy LА, Tumilovich AM, Gilep АА, Usanov SA, Ivanov АS. | 05/25/2019 |