Results 231 to 240 of about 6,020 (257)

CYP21A2 genetics: When genotype does not fit phenotype

Clinical Biochemistry, 2016
• To increase awareness of genotype–phenotype correlation in congenital adrenal ...
Sani I, Rossodivita AN, Mariani M, Costella A, Molinario R, Concolino P, Capoluongo E   +6 more
openaire   +5 more sources

[Detection and characterization of the types of CYP21A1P/CYP21A2 and TNXA/TNXB fused genes by long-read sequencing among children with Steroid 21-hydroxylase deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
OBJECTIVE To assess the diagnostic efficiency of long-read sequencing (LRS) for the determination of CYP21A1P/CYP21A2 and TNXA/TNXB fusion genotypes among children with 21-hydroxylase deficiency (21-OHD) and explore their clinical characteristics ...
Qingxian Fu, Zhen Li, Shiyi Xu, Lingling Du, Huishu E, Limei Guan   +5 more
semanticscholar   +1 more source

Gene symbol: CYP21A2. Disease: Adrenal hyperplasia.

Human genetics, 2008
No abstract ...
Capoluongo, Ettore Domenico, Concolino, Paola, Carrozza, Cinzia, Santonocito, Concetta, Zuppi, Cecilia   +4 more
openaire   +6 more sources

[Analysis of copy number variation of CYP21A2 gene and the type of CYP21A1P/CYP21A2 fused gene in patients with 21-hydroxylase deficiency].

Zhonghua yi xue za zhi, 2019
Objective: To analyze the copy number variation of CYP21A2 gene in 21-hydroxylase deficiency (21-OHD) patients, and identify the three copy repetition, single copy deletion of CYP21A2 gene and the type and proportion of CYP21A1P/CYP21A2 fused gene in 21-OHD patients.
Bingqing Yu, Min Nie, Xueyan Wu, Jiangfeng Mao, Yinjie Gao, Lin Lu, Shi Chen, Xi Wang, Anli Tong   +8 more
openaire   +2 more sources

Genetic Disruption of cyp21a2 Leads to Systemic Glucocorticoid Deficiency and Tissues Hyperplasia in the Teleost Fish Medaka (Oryzias latipes)

Zoological Science
cytochrome P-450, 21-hydroxylase (cyp21a2), encodes an enzyme required for cortisol biosynthesis, and its mutations are the major genetic cause of congenital adrenal hyperplasia (CAH) in humans.
José Carranza, Kazuki Yamada, Yuta Sakae, Jongsung Noh, M. Choi, Minoru Tanaka   +5 more
semanticscholar   +1 more source

Congenital adrenal hyperplasia with a CYP21A2 deletion overlapping the tenascin-X gene: an atypical presentation

Journal of Pediatric Endocrinology & Metabolism (JPEM), 2022
Objectives Congenital Adrenal Hyperplasia (CAH) is a group of genetic diseases characterized by impaired cortisol biosynthesis. 95% of CAH cases result from mutation in the CYP21A2 gene encoding 21-hydroxilase.
C. Ivo, A. Fitas, I. Madureira, C. Diamantino, S. Gomes, J. Gonçalves, Lurdes Lopes   +6 more
semanticscholar   +1 more source

The spectrum of CYP21A2 mutations in Congenital Adrenal Hyperplasia in an Indian cohort

Clinica Chimica Acta, 2017
Congenital Adrenal Hyperplasia (CAH) is a common autosomal recessive disorder of the adrenal steroidogenic pathway. The most common form of CAH is due to mutations in CYP21A2 gene. The incidence of mutations in the CYP21A2 gene and the genotype-phenotype correlations vary among different populations. Therefore, the aim of the study was to establish the
Rajendra Prasad, Anil Bhansali, Rama Walia, Ragini Khajuria   +3 more
openaire   +3 more sources

Rare mutations in the CYP21A2 gene detected in congenital adrenal hyperplasia

Clinical Biochemistry, 2009
The purpose of this study was to identify and determine the frequencies of rare CYP21A2 gene mutations in patients with 21-hydroxylase deficiency (21-OHD) in the Cypriot population.Direct sequencing and MLPA analysis of the CYP21A2 gene.A group of families with 21-OHD were screened for the presence of rare CYP21A2 gene mutations.
Nicos Skordis, Margarita Bartsota, Vassos Neocleous, Constandina Eleni Costi, Yiannis S. Ioannou, Leonidas A. Phylactou   +5 more
openaire   +3 more sources

Fine-mapping of the substrate specificity of human steroid 21-hydroxylase (CYP21A2)

The Journal of Steroid Biochemistry and Molecular Biology, 2019
Cytochrome P450 enzymes (CYPs) are capable of catalyzing regio- and stereo-specific oxy functionalization reactions, which otherwise are major challenges in organic chemistry. In order to make the best possible use of these biocatalysts it is imperative to understand their specificities.
Stoll A, Loke S, Joseph JF, Machalz D, de la Torre X, BOTRE' F, Wolber G, Bureik M, Parr MK   +8 more
openaire   +2 more sources

Development of CYP21A2 Genotyping Assay for the Diagnosis of Congenital Adrenal Hyperplasia

Molecular Diagnosis & Therapy, 2017
Steroid 21-hydroxylase deficiency due to CYP21A2 gene mutations represents more than 90% of all congenital adrenal hyperplasia cases. This deficiency is screened by measuring levels of 17-hydroxyprogesterone, which may vary, causing false positive or false negative results.
Mayara Jorgens Prado, Simone Martins de Castro, Cristiane Kopacek, Maricilda Palandi de Mello, Thaiane Rispoli, Tarciana Grandi, Cláudia Maria Dornelles da Silva, Maria Lucia Rosa Rossetti   +7 more
openaire   +3 more sources