Results 31 to 40 of about 2,980 (198)

The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes

Frontiers in Endocrinology, 2023
ObjectiveThe study aimed to identify the pathogenic status of p.Gln319Ter (NM_000500.7: c.955C>T) variant when inherited in a single CYP21A2 gene (bimodular RCCX haplotype) and to discriminate between a non-causing congenital adrenal hyperplasia (CAH)
Pavlos Fanis, Nicos Skordis, Nicos Skordis, Nicos Skordis, Meropi Toumba, Meropi Toumba, Michalis Picolos, George A. Tanteles, Vassos Neocleous, Leonidas A. Phylactou   +9 more
doaj   +1 more source

Implications of CYP21A2 gene duplications in carrier screening and prenatal diagnosis of congenital adrenal hyperplasia due to 21 Hydroxylase deficiency

Indian Pediatrics Case Reports, 2022
Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder that presents as salt wasting or simple virilization (SV). It is due to biallelic mutations in the CYP21A2 gene that encodes the 21-hydroxylase enzyme.
Sudhisha Dubey, Renu Saxena, Ratna Dua Puri, Ishwar Chander Verma   +3 more
doaj   +1 more source

Differences in hormonal levels between heterozygous CYP21A2 pathogenic variant carriers, non-carriers, and females with non-classic congenital hyperplasia

Archives of Endocrinology and Metabolism, 2022
Objective: CYP21A2 mutation heterozygote carriers seem to have an increased risk of hyperandrogenism. However, the clinical relevance of the heterozygote carrier status and the reliability of hormonal testing in discriminating a carrier from a non ...
Rita Santos Silva, Berta Carvalho, Jorge Pedro, Cíntia Castro-Correia, Davide Carvalho, Filipa Carvalho, Manuel Fontoura   +6 more
doaj   +1 more source

p.Gln318X and p.Val281Leu as the Major Variants of CYP21A2 Gene in Children with Idiopathic Premature Pubarche

International Journal of Endocrinology, 2020
Premature pubarche (PP) is the appearance of sexual hair in children before puberty. The PP phenotype may attribute to nonclassic congenital adrenal hyperplasia (NC-CAH).
Mahdieh Soveizi, Nejat Mahdieh, Aria Setoodeh, Fatemeh Sayarifard, Farzaneh Abbasi, Himangshu S. Bose, Bahareh Rabbani, Ali Rabbani   +7 more
doaj   +1 more source

A capillary electrophoresis-based assay for carrier screening of the hotspot mutations in the CYP21A2 gene

Heliyon
Molecular genetic analysis of the cytochrome P450 family 21 subfamily A member 2 (CYP21A2) gene is challenging owing to the highly homologous with its pseudogene. A reliable approach for the large-scale population screening of CYP21A2 is required.
Juan Tan, Shuping Jin, Linxiang Huang, Binbin Shao, Yan Wang, Yuguo Wang, Jingjing Zhang, Min Su, Jianxin Tan, Qing Cheng, Zhengfeng Xu   +10 more
doaj   +1 more source

CYP21A2 Mutations in Women with Polycystic Ovary Syndrome (PCOS)

Hormone and Metabolic Research, 2013
The question of the contribution of CYP21A2 heterozygosity to the development of polycystic ovary syndrome (PCOS) has repeatedly been raised in the literature. The available data, however, do not offer a satisfactory answer. The discrepancy must be attributed, primarily, to the small number of subjects in the various studies, the type of selected ...
Settas, N., Dracopoulou-Vabouli, M., Dastamani, A., Katsikis, I., Chrousos, G., Panidis, D., Dacou-Voutetakis, C.   +6 more
openaire   +3 more sources

Novel variants of CYP21A2 in Vietnamese patients with congenital adrenal hyperplasia [PDF]

Molecular Genetics & Genomic Medicine, 2019
AbstractBackgroundCongenital adrenal hyperplasia (CAH) (OMIM #201910) is a complex disease most often caused by pathogenic variant of the CYP21A2 gene. We have designed an efficient multistep approach to diagnose and classify CAH cases due to CYP21A2 variant and to study the genotype‐phenotype relationship.MethodsA large cohort of 212 Vietnamese ...
Vũ Chí Dũng, Thinh Huy Tran, Đức Hinh Nguyễn, Long Hoang Luong, Phuong Thi Le, Minh Hieu Ta, Huong Thi Thanh Ngo, Mai P. Nguyen, Tuan Pham Le-Anh, Dat Nguyen, The‐Hung Bui, Van Thanh Ta, Van Khanh Tran   +12 more
openaire   +2 more sources

Structure–phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia [PDF]

Proceedings of the National Academy of Sciences, 2013
Mutations in the cytochrome p450 (CYP)21A2 gene, which encodes the enzyme steroid 21-hydroxylase, cause the majority of cases in congenital adrenal hyperplasia, an autosomal recessive disorder. To date, more than 100 CYP21A2 mutations have been reported.
Haider, Shozeb, Islam, Barira, D'Atri, Valentina, Sgobba, Miriam, Poojari, Chetan, Sun, Li, Yuen, Tony, Zaidi, Mone, New, Maria   +8 more
openaire   +3 more sources

Pregnancy-associated changes of peroxisome proliferator-activated receptor delta (PPARD) and cytochrome P450 family 21 subfamily A member 2 (CYP21A2) expression in the bovine corpus luteum

The Journal of Reproduction and Development, 2020
We investigated gene expression profiles of the corpus luteum (CL) at the time of maternal recognition to evaluate the functional changes of the CL during early pregnancy in cows and help improve reproductive efficiency and avoid defective fetuses ...
Ryosuke SAKUMOTO, Ken-Go HAYASHI, Misa HOSOE, Kosuke IGA, Keiichiro KIZAKI   +4 more
doaj   +1 more source

Functional importance of novel nucleotide variations in the CYP21A2 gene

, 2016
Débora de Paula Michelatto
openalex   +2 more sources