Keywords: Congenital adrenal hyperplasia; CYP21A2; Ambiguous genitalia; Premature pubarche; Hyperandrogenism; Premature adrenarche;
مقالات ISI (ترجمه نشده)
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Functional characterization and molecular modeling of the mutations in CYP21A2 gene from patients with Congenital Adrenal Hyperplasia
Keywords: Congenital Adrenal Hyperplasia; CYP21A2 gene; Steroid 21-Hydroxylase deficiency; Molecular modeling; p.H365N; p.F306V; CAH; Congenital adrenal hyperplasia; CYP21A2; 21-Hydroxylase gene; NC; non classical; COS; CV-1 (simian) in Origin, carrying the SV40 ge
The spectrum of CYP21A2 mutations in Congenital Adrenal Hyperplasia in an Indian cohort
Keywords: CAH; Congenital Adrenal Hyperplasia; CYP21A2; 21-Hydroxylase gene; SW; salt wasting; SV; simple virilizing; NC; non classical; Congenital Adrenal Hyperplasia; CYP21A2 gene; Mutations; Genotype; Phenotype;
CYP17A1 inhibitor abiraterone, an anti-prostate cancer drug, also inhibits the 21-hydroxylase activity of CYP21A2
Keywords: Abiraterone; CYP21A2; CYP17A1; Prostate cancer; Cytochrome P450; Steroidogenesis; Androgens;
Specificity of anti-prostate cancer CYP17A1 inhibitors on androgen biosynthesis
Keywords: CYP17A1; Orteronel; Abiraterone; CYP21A2; PCOS; Premature adrenarche; Castration resistant prostate cancer;
A Novel NADPH-dependent flavoprotein reductase from Bacillus megaterium acts as an efficient cytochrome P450 reductase
Keywords: NADPH-dependent cytochrome P450 oxidoreductase; Bacillus megaterium; CYP106A1; CYP21A2; Microsomal P450; Diflavin reductase
Enantioselective endocrine disrupting effects of omeprazole studied in the H295R cell assay and by molecular modeling
Keywords: In vitro; docking; molecular dynamics; endocrine disrupting drug; enantiomers; steroidogenesis; CYP17A1; CYP19A1; CYP21A2;
Molecular analysis of the CYP21A2 gene in Chinese patients with steroid 21-hydroxylase deficiency
Keywords: Congenital adrenal hyperplasia; 21-Hydroxylase deficiency; CYP21A2; Mutation;
Novel method to characterize CYP21A2 in Florida patients with congenital adrenal hyperplasia and commercially available cell lines
Keywords: Congenital adrenal hyperplasia; CYP21A2; DNA sequence; Mutation analysis
Genes, pseudogenes and like genes: The case of 21-hydroxylase in Italian population
Keywords: CYP21A2; like-gene; CYP21A1P; Molecular diagnosis; 21-hydroxylase deficiency;
Diagnosis and management of classical congenital adrenal hyperplasia
Keywords: Congenital adrenal hyperplasia; 21-Hydroxylase deficiency; CYP21A2; Disorders of sexual development
Variants of the CYP21A2 and CYP21A1P genes in congenital adrenal hyperplasia
Keywords: P450c21; CYP21A1P; CYP21A2; RCCX module; CAH
Steroids excreted in urine by neonates with 21-hydroxylase deficiency. 4. Characterization, using GC–MS and GC–MS/MS, of 11oxo-pregnanes and 11oxo-pregnenes
Keywords: CYP21A2; 21-Deoxycortisol; 21-Deoxycortisone; Neonate; Urine; Steroidomics
Reverse-hybridization assay for rapid detection of common CYP21A2 mutations in dried blood spots from newborns with elevated 17-OH progesterone
Keywords: CAH; congenital adrenal hyperplasia; CYP21A2; cytochrome P450, family 21, subfamily A, polypeptide 2; 17-OHP; 17-hydroxyprogesterone; MLPA; multiplex ligation-dependent probe amplification; SW; salt-wasting; SV; simple virilizing; NC; nonclassic; fs; fram
Hiperplasia congénita da suprarrenal por deficiência de 21-hidroxilase: correlação genótipo-fenótipo
Keywords: Hiperplasia congénita da suprarrenal; Genótipo e fenótipo; CYP21A2Congenital adrenal hyperplasia; Genotype and phenotype; CYP21A2
Vitamin D-mediated regulation of CYP21A2 transcription - A novel mechanism for vitamin D action
Keywords: RXR; retinoid X receptor; SF-1; steroidogenic factor-1; VDIR; VDR interacting repressor; VDR; vitamin D receptor; VDRE; vitamin D responsive element; nVDRE; negative vitamin D responsive element; WSTF; Williams syndrome transcription factor; Steroidogenes
Steroids excreted in urine by neonates with 21-hydroxylase deficiency. 2. Characterization, using GC–MS and GC–MS/MS, of pregnanes and pregnenes with an oxo- group on the A- or B-ring
Keywords: CYP21A2; GC-MS/MS; Neonate; Urine; Steroidomics; Metabolomics
Steroids excreted in urine by neonates with 21-hydroxylase deficiency. 3. Characterization, using GC-MS and GC-MS/MS, of androstanes and androstenes
Keywords: CYP21A2; GC-MS/MS; Neonate; Urine; Steroidomics; 'Backdoor pathway';
Autopsy and genetic diagnosis of 21-hydroxylase deficiency with bilateral testicular tumors in a case under no medication for over one year
Keywords: Congenital adrenal hyperplasia; 21-Hydroxylase deficiency; CYP21A2; Salt-wasting form; Testicular tumor; Medico-legal autopsy
High-resolution melting curve (HRM) analysis to establish CYP21A2 mutations converted from the CYP21A1P in congenital adrenal hyperplasia
Keywords: CYP21A2; CAH; HRM; PCR-based amplification; Mutational detection
Functional characterisation of the H365Y mutation of the 21-hydroxylase gene in congenital adrenal hyperplasia
Keywords: Congenital adrenal hyperplasia; Steroid 21-hydroxylase deficiency; CYP21A2; H365Y; R356W; Salt-wasting
Comparing the Southern blot method and polymerase chain reaction product analysis for chimeric RCCX detection in CYP21A2 deficiency
Keywords: CYP21A2; CAH; Southern blot analysis; PCR-based amplification; Chimeras of the RCCX module
Formas virilizantes simples de hiperplasia suprarrenal congénita: adaptación y validación prospectiva del cribado molecular de diagnóstico
Keywords: Hiperplasia suprarrenal congénita; CYP21A2; Formas virilizantes simples; Cribado genotípico; Diseminación preferenteCongenital adrenal hyperplasia; CYP21A2; Simple virilising forms; Genotypic screening; Preferential dissemination
Síndrome suprarrenogenital congénito virilizante con mutación de novo I172N: estudio de un nuevo caso
Keywords: Hiperplasia suprarrenal; CYP21A2; Mutación de novo I172NCongenital adrenal hyperplasia; CYP21A2; Novo mutations
A new marker for early diagnosis of 21-hydroxylase deficiency: 3β,16α,17α-trihydroxy-5α-pregnane-7,20-dione
Keywords: CYP21A2; CYP7B1; GC-MS/MS; Neonate; Steroids; Urine;
Steroids excreted in urine by neonates with 21-hydroxylase deficiency: Characterization, using GC-MS and GC-MS/MS, of the D-ring and side chain structure of pregnanes and pregnenes
Keywords: CYP21A2; D-ring; GC-MS/MS; Neonate; Pregnane; Urine;
The gene founder effect of two spontaneous mutations in ethnic Chinese (Taiwanese) CAH patients with 21-hydroxylase deficiency
Keywords: CYP21A2; CAH; Spontaneous mutation; Gene founder effect; HLA typing; DRB1 and B genes; B∗3909; Taiwanese
Rare mutations in the CYP21A2 gene detected in congenital adrenal hyperplasia
Keywords: Mutations; CYP21A2; Congenital adrenal hyperplasia
Application of the DHPLC method for mutational detection of the CYP21A2 gene in congenital adrenal hyperplasia
Keywords: CYP21A2; CAH; DHPLC; PCR-based amplification; Mutational detection; Chromatography
Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions/duplications in Congenital Adrenal Hyperplasia: First technical report
Keywords: Multiplex ligation-dependent probe amplification (MLPA); CYP21A2; CAH diagnosis; Duplication; Deletion
Genetics of congenital adrenal hyperplasia
Keywords: congenital adrenal hyperplasia; CAH; genetic analysis; CYP21A2; CYP11B1; CYP17A1; HSD3B2; POR
Low frequency of the CYP21A2 deletion in ethnic Chinese (Taiwanese) patients with 21-hydroxylase deficiency
Keywords: Carrier frequency; Gene deletion; CYP21A2; CAH; Ethnic Chinese
Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency
Keywords: CYP21A2; 21-Hydroxylase deficiency; Congenital adrenal hyperplasia; Steroidogenesis
Age-specific changes in sex steroid biosynthesis and sex development
Keywords: fetal adrenal; fetal gonad; sex development; urogenital ridge; bitpotent gonad; androgen; cortisol; testosterone; dehydroepiandrosterone; DHEA; CYP21A2; 21-hydroxylase; CYP17A1; 17alpha-hydroxylase; POR; P450 oxidoreductase; congenital adrenal hyperplasia
Diversity of the CYP21A2 gene: A 6.2-kb TaqI fragment and a 3.2-kb TaqI fragment mistaken as CYP21A1P
Keywords: CYP21A2; CYP21A1P; RCCX module; TaqI digestion; Congenital adrenal hyperplasia
CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: Identification of two novel mutations and characterization of four different partial gene conversions
Keywords: Congenital adrenal hyperplasia; 21-Hydroxylase; CYP21A2