Results 191 to 200 of about 4,947 (206)

A new CYP21A2 nonsense mutation causing severe 21-hydroxylase deficiency

Clinical Chemistry and Laboratory Medicine, 2009
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused primarily by defects in the steroid 21-hydroxylase gene (CYP21A2). The CYP21A2 gene is located in the HLA class III region on the short arm of chromosome 6p21.3, along with an inactive pseudogene, CYP21A1P, that is 98% homologous with CYP21A2 in its coding sequence.
CONCOLINO P, MINUCCI A, MELLO E, ZUPPI C, CAPOLUONGO E.   +4 more
openaire   +3 more sources

Genetic defects of the CYP21A2 gene in girls with premature adrenarche

Journal of Endocrinological Investigation, 2014
To seek evidence on the prevalence of CYP21A2 genetic defects and consequences in girls with premature adrenarche (PA).The study included 59 girls diagnosed with PA. Direct DNA sequencing and MLPA analysis were performed to identify mutations in CYP21A2 gene.Twelve girls were diagnosed with non-classic congenital adrenal hyperplasia (NC-CAH) based on ...
Skordis, N., Shammas, C., Phedonos, A. A. P., Kyriakou, A., Toumba, M., Neocleous, V., Phylactou, L. A.   +6 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
openaire   +2 more sources

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
openaire   +3 more sources

Navigating the Complex Landscape of CYP21A2 Variants

Indian Journal of Pediatrics, 2023
Sudhisha Dubey, Neerja Gupta
openaire   +2 more sources

Gene symbol: CYP21A2. Disease: Non-classic 21-Hydroxylase deficiency.

Human genetics, 2008
No ...
Capoluongo, Ettore Domenico, Concolino, Paola, Vendittelli, Francesca, Zuppi, Cecilia   +3 more
openaire   +2 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

[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
openaire   +1 more source

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 ...
openaire   +2 more sources

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