Results 1 to 10 of about 4,066 (184)

Comparison of long-read sequencing and MLPA combined with long-PCR sequencing of CYP21A2 mutations in patients with 21-OHD. [PDF]

Front Genet
Background 21-Hydroxylase deficiency (21-OHD) is caused by mutations in the CYP21A2 gene. Due to the complex structure and the high genetic heterogeneity of the CYP21A2 gene, genetic testing for 21-OHD is currently facing challenges.
Lan T, Wang J, Chen K, Zhang J, Chen X, Yao H.   +5 more
europepmc   +4 more sources

A Case of Salt-Wasting Congenital Adrenal Hyperplasia Caused by a Rare Intronic Variant in the <i>CYP21A2</i> Gene. [PDF]

Int J Mol Sci
This case report describes a novel intronic mutation, CYP21A2:c.738+75C>T (rs1463196531), identified in a 4-year-old male with congenital adrenal insufficiency, and expands the known mutation spectrum associated with this condition.
Antysheva Z, Esibov A, Avsievich E, Petriaikina E, Yudin V, Keskinov A, Yudin S, Svetlichnyy D, Krupinova J, Ivashechkin A, Katsaran Y, Woroncow M, Skvortsova V, Bogdanov V, Volchkov P.   +14 more
europepmc   +4 more sources

Analysis of the CYP21A2 gene pathogenic variants in CAH patients from Surgut using next-generation sequencing (NGS) [PDF]

Egyptian Journal of Medical Human Genetics
21-hydroxylase deficiency is present in 90–95% of cases of congenital adrenal hyperplasia (CAH). Eleven major pathogenic variants account for 93% of all identified variants in the CYP21A2 gene in various clinical forms of the disease. Each population has
Natalia S. Osinovskaya, Elena S. Vashukova, Olga Tarasenko, Maria M. Danilova, Olga B. Glavnova, Iskender Sultanov, M. Yu. Donnikov, Yulia A. Nasykhova, Аndrey S. Glotov   +8 more
semanticscholar   +3 more sources

8368 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH [PDF]

J Endocr Soc
Disclosure: A. Matveeva: None. Y. Xu: None. V. Tardy-Guidollet: None. A.V. Pandey: None. Introduction: Congenital adrenal hyperplasia (CAH) comprises a group of autosomal recessive genetic disorders affecting the production of glucocorticoids ...
А.Г. Матвеева, Yingtong Xu, Véronique Tardy-Guidollet, Amit V. Pandey   +3 more
europepmc   +3 more sources

9209 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH [PDF]

J Endocr Soc
Disclosure: A. Matveeva: None. Y. Xu: None. V. Tardy-Guidollet: None. A.V. Pandey: None. Introduction: Congenital adrenal hyperplasia (CAH) comprises a group of autosomal recessive genetic disorders affecting the production of glucocorticoids ...
А.Г. Матвеева, Yuansong Xu, Véronique Tardy-Guidollet, Amit V. Pandey   +3 more
europepmc   +3 more sources

Nationwide carrier screening for congenital adrenal hyperplasia: integrated approach of CYP21A2 pathogenic variant genotyping and comprehensive large gene deletion analysis. [PDF]

BMC Med Genomics
Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD CAH) is an autosomal recessive disorder resulting from pathogenic variants in the CYP21A2 gene.
Suwanlikit Y, Panthan B, Chitayanan P, Klumsathian S, Charoenyingwattana A, Chantratita W, Trachoo O.   +6 more
europepmc   +4 more sources

Statistical analysis of the results of detection of frequent mutations in the CYP21A2 gene [PDF]

Endocrine Surgery, 2023
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Ekaterina A. Vetchinkina, Elizaveta Podshivalova, Pia Pogoda   +2 more
openalex   +2 more sources

MOLECULAR DOCKING OF SPEARMINT PHYTOCOMPOUNDS AGAINST CYP21A2: IMPLICATIONS FOR PCOS THERAPY

Innovare Journal of Medical Sciences
Objectives: In this study, phytocompounds of spearmint that is known to have anti-androgenic activity are docked against a protein CYP21A2. This protein is also known as progesterone complex, one of the member cytochrome P450 enzymes; mutations in the ...
SNEHA MALAKHED
openalex   +3 more sources

Genotype-Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency Using Next Generation Sequencing. [PDF]

Mol Genet Genomic Med
The overall genotype–phenotype concordance was found to be 73.1% (68/93). The expected concordance with the SW form of the null (n = 12) and A (n = 51) groups is 91.6% and 88.2%, respectively. While the percentage of the expected clinical form of SV in patients in group B (n = 5) was 80%, the concordance for the expected clinical form of NC for group C
Atas N, Karaoglan M, Nacarkahya G.
europepmc   +2 more sources

Optimized Homologous Sequence Alignment for the Identification of CYP21A2 Variants in 21-Hydroxylase Deficiency Using Next-Generation Sequencing Technology. [PDF]

Risk Manag Healthc Policy
Objective This study aimed to develop a novel homologous sequence analysis technique using high-throughput sequencing data to enhance CYP21A2 mutation detection.
Chen Y, Yu Q, Ge L, Weng L, Pan X, Zhou X, Zhou N, Wang Y, Jia J, Li H.   +9 more
europepmc   +2 more sources