Results 181 to 190 of about 4,073 (218)

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.
Vassos, Neocleous, Yiannis S, Ioannou, Margarita, Bartsota, Constandina, Costi, Nicos, Skordis, Leonidas A, Phylactou   +5 more
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[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, 2020
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.
Y J, Gao, B Q, Yu, L, Lu, X Y, Wu, J F, Mao, X, Wang, A L, Tong, S, Chen, M, Nie   +8 more
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Variants of the CYP21A2 and CYP21A1P genes in congenital adrenal hyperplasia

Clinica Chimica Acta, 2013
More than 90% of congenital adrenal hyperplasia cases are caused by mutation of the CYP21A2 gene which converted from the CYP21A1P pseudogene. Sizes of the 3.7-kb TaqI-produced fragment that exists downstream of the TNXB gene, representing the CYP21A2, and the 3.2-kb TaqI-produced fragment that exists downstream of the XA gene, representing the ...
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Gene symbol: CYP21A2. Disease: Non-classic 21-Hydroxylase deficiency.

Human genetics, 2008
No ...
Capoluongo, Ettore Domenico, Concolino, Paola, Vendittelli, Francesca, Zuppi, Cecilia   +3 more
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Molecular analysis of the CYP21A2 gene in Chinese patients with steroid 21-hydroxylase deficiency

Clinical Biochemistry, 2014
21-Hydroxylase deficiency (21-OHD) is the most common cause of congenital adrenal hyperplasia (CAH), a family of autosomal recessive disorders involving impaired cortisol synthesis. This study aimed to design a reliable and rational approach for identifying mutations in the CYP21A2 gene and to characterize the molecular basis of 21-OHD in 30 Chinese ...
Dingyuan, Ma, Yulin, Chen, Yun, Sun, Bing, Yang, Jian, Cheng, Meilian, Huang, Jin, Zhang, Jingjing, Zhang, Ping, Hu, Ying, Lin, Tao, Jiang, Zhengfeng, Xu   +11 more
openaire   +2 more sources

Prevalence and Clinical Outcome of CYP21A2 Gene Mutations in Patients with Nonfunctional Adrenal Incidentalomas

Hormone and Metabolic Research, 2015
Adrenal tumors, discovered incidentally in approximately 4.5% of imaging procedures, are known as adrenal incidentalomas. Nonclassic congenital adrenal hyperplasia, mild form of 21-hydroxylase deficiency, may lead to the development of adrenocortical tumors.
B, Kiedrowicz, A, Binczak-Kuleta, J, Lubikowski, M, Koziolek, E, Andrysiak-Mamos, M, Ostanek-Panka, A, Ciechanowicz, A, Syrenicz   +7 more
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Lack of genotypephenotype correlation in congenital adrenal hyperplasia due to a CYP21A2-like gene

Clinica Chimica Acta, 2014
Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency, encoded by CYP21A2 gene, is an autosomal recessive disorder. The CYP21A2 gene, localized in a genetic unit defined RCCX module, is considered one of the most polymorphic of human genes.We considered new evidences about the presence of a RCCX trimodular haplotype with a CYP21A2-like ...
Leccese, A, Longo, V, Dimatteo, C, De Girolamo, G, Trunzo, R, Bafunno, V, D'ANDREA, GIOVANNA, MARGAGLIONE, MAURIZIO, SANTACROCE, ROSA   +8 more
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Impact of Genome Complexity of the CYP21A2 Gene on Adrenal Steroidogenesis

Journal of Experimental & Clinical Medicine, 2012
Steroidogenesis in the adrenal cortex generates mineralocorticoids, glucocorticoids, and androgens, all of which are mediated by numerous enzymes and regulatory factors from the precursor, cholesterol. Defective adrenal steroidogenesis disorders include Addison’s disease, congenital adrenal hyperplasia (CAH), and Cushing syndrome.
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Analysis of theCYP21A2Gene with Intergenic Recombination and Multiple Gene Deletions in the RCCX Module

Genetic Testing and Molecular Biomarkers, 2011
The most frequent bimodular RCCX module of the RP1-C4A-CYP21A1P-TNXA-RP2-C4B-CYP21A2-TNXB gene sequence is located on chromosome 6p21.3. To determine RCCX alterations, we used the polymerase chain reaction (PCR) product containing the tenascin B (TNXB) and CYP21A2 genes with TaqI digestion and Southern blot analysis with AseI and NdeI endonuclease ...
Shwu-Fen, Chang, Hsien-Hsiung, Lee
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Mutation analysis of the CYP21A2 gene in congenital adrenal hyperplasia.

Cellular and molecular biology (Noisy-le-Grand, France), 2016
Congenital adrenal hyperplasia (CAH) is an inherited autosomal recessive enzymatic disorder involving the synthesis of adrenal corticosteroids. 21-Hydroxylase deficiency (21-OHD) is the most common form of the disease which is observed in more than 90% of patients with CAH.
K, Forouzanfar, M, Seifi, F, Hashemi-Gorji, N, Karimi, M A, Estiar, M, Karimoei, E, Sakhinia, M, Karimipour, R, Ghergherehchi   +8 more
openaire   +1 more source