The effect of fetal androgen metabolism-related gene variants on external genitalia virilization in congenital adrenal hyperplasia. (Q50058352)

24 February 2018

title

The effect of fetal androgen metabolism-related gene variants on external genitalia virilization in congenital adrenal hyperplasia. (English)

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Berenice Bilharinho Mendonca

author

9

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author name string

L C Kaupert

1

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S H V Lemos-Marini

2

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M P De Mello

3

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R P Moreira

4

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V N Brito

5

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A A L Jorge

6

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C A Longui

7

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G Guerra

8

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T A Bachega

10

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publication date

8 October 2012

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published in

Clinical Genetics

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volume

84

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page(s)

482-488

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issue

5

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Congenital adrenal hyperplasia.

cites work

1 reference

Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency

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Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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An Androgen Receptor Gene Mutation (E653K) in a Family with Congenital Adrenal Hyperplasia due to Steroid 21-Hydroxylase Deficiency as well as in Partial Androgen Insensitivity

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Multicentric study of Brazilian patients with 21-hydroxylase deficiency: a genotype-phenotype correlation

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Severity of virilization of external genitalia in Japanese patients with salt-wasting 21-hydroxylase deficiency

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Lack of correlation between phenotype and genotype in untreated 21-hydroxylase-deficient Indonesian patients

21 January 2018

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Developmental expression of the major human hepatic CYP3A enzymes

21 January 2018

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Identification and phenotype characterization of two CYP3A haplotypes causing different enzymatic capacity in fetal livers

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A novel polymorphic cytochrome P450 formed by splicing of CYP3A7 and the pseudogene CYP3AP1.

21 January 2018

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A common polymorphism in the CYP3A7 gene is associated with a nearly 50% reduction in serum dehydroepiandrosterone sulfate levels

21 January 2018

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Association of CYP3A7*1C and serum dehydroepiandrosterone sulfate levels in women with polycystic ovary syndrome

21 January 2018

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Nuclear receptor expression in fetal and pediatric liver: correlation with CYP3A expression.

21 January 2018

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Functional analysis of four naturally occurring variants of human constitutive androstane receptor

21 January 2018

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Impact of the haplotypes of the human pregnane X receptor gene on the basal and St John's wort-induced activity of cytochrome P450 3A4 enzyme

21 January 2018

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Low frequency of CYP2B deletions in Brazilian patients with congenital adrenal hyperplasia due to 21-hydroxylas deficiency.

21 January 2018

1 reference

Superior discriminating value of ACTH-stimulated serum 21-deoxycortisol in identifying heterozygote carriers for 21-hydroxylase deficiency

21 January 2018

1 reference

Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency

21 January 2018

1 reference

No correlation between androgen receptor CAG and GGN repeat length and the degree of genital virilization in females with 21-hydroxylase deficiency.

21 January 2018

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Molecular mechanisms of polymorphic CYP3A7 expression in adult human liver and intestine

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Three novel mutations in CYP21 gene in Brazilian patients with the classical form of 21-hydroxylase deficiency due to a founder effect

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Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency

21 January 2018

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Increased activation of the alternative "backdoor" pathway in patients with 21-hydroxylase deficiency: evidence from urinary steroid hormone analysis

21 January 2018

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PXR: a xenobiotic receptor of diverse function implicated in pharmacogenetics

21 January 2018

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Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes

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Cytochrome P450 2B6 (CYP2B6) and constitutive androstane receptor (CAR) polymorphisms are associated with early discontinuation of efavirenz-containing regimens.

21 January 2018

1 reference

Molecular Genotyping in Brazilian Patients with the Classical and Nonclassical Forms of 21-Hydroxylase Deficiency

21 January 2018

1 reference

A Novel Missense Mutation, GLY424SER, in Brazilian Patients with 21-Hydroxylase Deficiency

21 January 2018

1 reference

CYP21 Gene Mutation Analysis in 198 Patients with 21-Hydroxylase Deficiency in The Netherlands: Six Novel Mutations and a Specific Cluster of Four Mutations

21 January 2018

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21 January 2018

Identifiers

DOI

10.1111/CGE.12016

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24 February 2018

PubMed ID

22978668

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24 February 2018