Results 171 to 180 of about 3,461 (195)

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
Ragini, Khajuria, Rama, Walia, Anil, Bhansali, Rajendra, Prasad   +3 more
openaire   +2 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.
Vassos, Neocleous, Yiannis S, Ioannou, Margarita, Bartsota, Constandina, Costi, Nicos, Skordis, Leonidas A, Phylactou   +5 more
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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
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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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[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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Navigating the Complex Landscape of CYP21A2 Variants

Indian Journal of Pediatrics, 2023
Sudhisha Dubey, Neerja Gupta
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CYP21A2mutation update: Comprehensive analysis of databases and published genetic variants

Human Mutation, 2017
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of adrenal steroidogenesis. Disorders in steroid 21-hydroxylation account for over 95% of patients with CAH. Clinically, the 21-hydroxylase deficiency has been classified in a broad spectrum of clinical forms, ranging from severe or classical, to mild late onset or non ...
Leandro Simonetti, Carlos D. Bruque, Cecilia S. Fernández, Belén Benavides-Mori, Marisol Delea, Jorge E. Kolomenski, Lucía D. Espeche, Noemí D. Buzzalino, Alejandro D. Nadra, Liliana Dain   +9 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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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

Targeted long-read sequencing for comprehensive detection of CYP21A2 mutations in patients with 21-hydroxylase deficiency

Journal of Endocrinological Investigation, 2023
Masaki Nie, Sun B
exaly