| A contiguous gene deletion involving the adjacent CYP21A2 and TNXB genes are associated with Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia. | High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia.
Lao Q, Brookner B, Merke DP., Free PMC Article | 07/4/2020 |
| The variants reveal that traditional recognition of CYP21A1P gene based on the TaqI fragment size analysis may lead to misinterpretation and interfere with the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. | Variants of the CYP21A2 and CYP21A1P genes in congenital adrenal hyperplasia.
Lee HH. | 01/11/2014 |
| Pseudogene of the CYP21A1P mutation presents diverse variants. it may be misdiagnosed by previously established methods for congenital adrenal hyperplasia caused by a 21-hydroxylase deficiency. | Analysis of the CYP21A1P pseudogene: indication of mutational diversity and CYP21A2-like and duplicated CYP21A2 genes.
Tsai LP, Cheng CF, Chuang SH, Lee HH. | 08/6/2011 |
| Chimeric CYP21A1P/CYP21A2 genes were present in 171 out of 508 mutated CYP21A2 alleles (33.8%). | Chimeric CYP21A1P/CYP21A2 genes identified in Czech patients with congenital adrenal hyperplasia.
Vrzalová Z, Hrubá Z, Hrabincová ES, Vrábelová S, Votava F, Koloušková S, Fajkusová L. | 08/6/2011 |
| We describe a new CYP21A1P/CYP21A2 chimera (CH-6), associated with the HLA-B15, DR13 haplotype, in a young Italian congenital adrenal hyperplasia patient | A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form.
Concolino P, Mello E, Minucci A, Giardina E, Zuppi C, Toscano V, Capoluongo E., Free PMC Article | 01/21/2010 |
| demonstration of diversity associated with gene copy-number variation of complement C4, CYP21 & tenascin; also offers an explanation for low prevalence of systemic lupus erythematosus but high incidence of congenital adrenal hyperplasia in Asian-Indians | Great genotypic and phenotypic diversities associated with copy-number variations of complement C4 and RP-C4-CYP21-TNX (RCCX) modules: a comparison of Asian-Indian and European American populations.
Saxena K, Kitzmiller KJ, Wu YL, Zhou B, Esack N, Hiremath L, Chung EK, Yang Y, Yu CY., Free PMC Article | 01/21/2010 |
| Observational study of genetic testing. (HuGE Navigator) | See all PubMed (2) articlesEstimation of the false-negative rate in newborn screening for congenital adrenal hyperplasia.
Votava F, Török D, Kovács J, Möslinger D, Baumgartner-Parzer SM, Sólyom J, Pribilincová Z, Battelino T, Lebl J, Frisch H, Waldhauser F, Middle European Society for Paediatric Endocrinology -- Congenital Adrenal Hyperplasia (MESPE-CAH) Study Group. [Screening 21-hydroxylase deficiency carriers in androgen excess women of Chinese Han nationality].
Tao H, Lu Z, Zhang B, Wang Y, Sun M. | 03/13/2008 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesThe gene founder effect of two spontaneous mutations in ethnic Chinese (Taiwanese) CAH patients with 21-hydroxylase deficiency.
Lee YJ, Tsai LP, Niu DM, Shu SG, Chao MC, Lee HH. Influence of GSTT1, mEH, CYP2E1 and RAD51 polymorphisms on diepoxybutane-induced SCE frequency in cultured human lymphocytes.
Schlade-Bartusiak K, Rozik K, Laczmanska I, Ramsey D, Sasiadek M. | 03/13/2008 |
| Observational study of genotype prevalence. (HuGE Navigator) | See all PubMed (3) articlesLinkage analysis of the C4A/C4B copy number variation and polymorphisms of the adjacent steroid 21-hydroxylase gene in a healthy population.
Blaskó B, Bánlaki Z, Gyapay G, Pozsonyi E, Sasvári-Székely M, Rajczy K, Füst G, Szilágyi A. Low frequency of the CYP21A2 deletion in ethnic Chinese (Taiwanese) patients with 21-hydroxylase deficiency.
Lee HH, Lee YJ, Wang YM, Chao HT, Niu DM, Chao MC, Tsai FJ, Lo FS, Lin SJ. Phenotype and genotype correlation of the microconversion from the CYP21A1P to the CYP21A2 gene in congenital adrenal hyperplasia.
Torres N, Mello MP, Germano CM, Elias LL, Moreira AC, Castro M. | 03/13/2008 |
| There are ethnic-specific mutations in the CYP21A2 gene. | Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.
Wilson RC, Nimkarn S, Dumic M, Obeid J, Azar MR, Najmabadi H, Saffari F, New MI., Free PMC Article | 01/21/2010 |
| Microconversions between CYP21A2 and CYP21A1P promoters could be involved in the nonclassical phenotype of 21-hydroxylase deficiency | Microconversion between CYP21A2 and CYP21A1P promoter regions causes the nonclassical form of 21-hydroxylase deficiency.
Araújo RS, Mendonca BB, Barbosa AS, Lin CJ, Marcondes JA, Billerbeck AE, Bachega TA. | 01/21/2010 |
| molecular studies on RCCX haplotypes revealing a unique recombination giving rise to a TNXB/TNXA hybrid gene, CYP21A deletion and CYP21B duplication on one chromosome | An unequal crossover event in RCCX modules of the human MHC resulting in the formation of a TNXB/TNXA hybrid and deletion of the CYP21A.
Jaatinen T, Chung EK, Ruuskanen O, Lokki ML. | 01/21/2010 |