Results 181 to 190 of about 2,980 (198)

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   +4 more sources

การวิเคราะห์การกลายพันธุ์ของยีน CYP21A2 ในผู้ป่วยไทยที่มีภาวะพร่องเอนไซม์ 21-ไฮดรอกซิเลส

2023
โรคต่อมหมวกไตชั้นนอกโตผิดปกติตั้งแต่กำเนิด เป็นโรคทางพันธุกรรมที่พบได้บ่อยที่สุดในกลุ่มโรคต่อมหมวกไตชั้นนอก มากกว่าร้อยละ 90 ของผู้ป่วยโรคนี้มีสาเหตุมาจากภาวะพร่องเอนไซม์ 21-ไฮดรอกซิเลส โดยถ่ายทอดทางพันธุกรรมแบบยีนด้อยบนออโตโซม ซึ่งเกิดจากการกลายพันธุ์ของยีน CYP21A2 ที่มีหน้าที่ควบคุมการสร้างเอนไซม์ 21-ไฮดรอกซิเลส ในวิถีการสังเคราะห์ฮอร์โมนสเตียรอยด ...
openaire   +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

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