Results 151 to 160 of about 2,714 (169)

CYP21A2 AND CYP11B1: FIRST REPORT OF A DIGENIC INHERITANCE IN CAH.

2012
Background Congenital adrenal hyperplasia is caused mostly by 21-hydroxylase deficiency (>90%) and 11ß-hydroxylase deficiency (5–8%). Both enzymes are required for cortisol synthesis and the non classical (NC) phenotype of both deficiencies is characterized by hyper-androgenic manifestations in childhood/adolescence.
MENABO', SOARA, Marsigli A., BALDAZZI, LILIA, NICOLETTI, ANNALISA, PIRAZZOLI, PIERO, BALSAMO, ANTONIO   +5 more
openaire   +1 more source

Characterization of Mutations Causing CYP21A2 Deficiency in Brazilian and Portuguese Populations

International Journal of Molecular Sciences, 2022
Cristiane Kopáček, Zaha A, Amit V Pandey   +2 more
exaly  

Gene symbol: CYP21A2.

Human genetics, 2007
Veronique T V, Tardy, Yves, Morel
openaire   +7 more sources

Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: An Update on Genetic Analysis of CYP21A2 Gene

Experimental and Clinical Endocrinology and Diabetes, 2021
Filipa Carvalho, Rita Santos-Silva, Davide Carvalho   +2 more
exaly  

Estimation of the inhibiting impact of abiraterone D4A metabolite on human steroid 21-monooxygenase (CYP21A2)

Steroids, 2020
Tatiana Filippova, Andrei Gilep, Natallia Strushkevich   +2 more
exaly  

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

Proceedings of the National Academy of Sciences of the United States of America, 2013
Barira Islam, , Chetan Poojari
exaly  

CYP17A1 inhibitor abiraterone, an anti-prostate cancer drug, also inhibits the 21-hydroxylase activity of CYP21A2

Journal of Steroid Biochemistry and Molecular Biology, 2017
Amit V Pandey, Shaheena Parween, Simone Brixius-Anderko   +2 more
exaly  

A rare CYP21A2 haplotype clarifies the phenotype–genotype discrepancy in an Italian patient with Non Classical Congenital Adrenal Hyperplasia (NC-CAH)

Molecular Biology Reports, 2020
Paola Concolino, Concolino Paola
exaly  

Novel variants of CYP21A2 in Vietnamese patients with congenital adrenal hyperplasia

Molecular Genetics & Genomic Medicine, 2019
Van Khanh Tran
exaly  

Lack of genotypephenotype correlation in congenital adrenal hyperplasia due to a CYP21A2-like gene

Clinica Chimica Acta, 2014
V Longo, G D'Andrea
exaly