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Article
A sequence variation in 3’UTR of CYP21A2 gene correlates with a mild form of congenital adrenal hyperplasia
Background: Congenital adrenal hyperplasia (CAH) is mainly caused by the deficiency of the 21-hydroxylase enzyme coded by the CYP21A2 gene. However, some alleles in the non-classical form (NC-CAH...
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Article
Functional studies of two novel and two rare mutations in the 21-hydroxylase gene
Congenital adrenal hyperplasia (CAH) is most commonly due to 21-hydroxylase deficiency and presents with a wide spectrum of clinical manifestations, from prenatal virilization and salt-wasting in the neonatal ...
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Article
Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome
Five mutations in the ligand-binding domain of the androgen receptor gene were identified in patients with complete (A765T, C784Y, R831X and M895T) or partial (R840G) androgen insensitivity. A765T and R831X ha...
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Article
A cluster of missense mutations at Arg356 of human steroid 21-hydroxylase may impair redox partner interaction
Lesions in the gene encoding steroid 21-hydroxylase result in congenital adrenal hyperplasia, with impaired secretion of cortisol and aldosterone from the adrenal cortex and overproduction of androgens. A lim...
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Article
An intron 1 splice mutation and a nonsense mutation (W23X) in CYP21 causing severe congenital adrenal hyperplasia
Direct DNA sequencing of the steroid 21-hydroxylase gene (CYP21) revealed two novel mutations in two patients with severe congenital adrenal hyperplasia. The nonsense mutation Trp23Stop (TGG → TGA) was found ...
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Article
MUTATIONAL SPECTRUM OF THE STEROID 21-HYDROXYLASE GENE
Lesions in the gene encoding steroid 21-hydroxylase (CYP21) result in defective adrenal steroid synthesis; the severe forms are known as congenital adrenal hyperplasia. To facilitate.complete characterization ...
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Article
DNA polymorphisms in the human tyrosine hydroxylase/insulin/ insulin-like growth factor II chromosomal region in relation to glucose and insulin responses
The feasibility of disease association studies using polymorphic DNA markers in the tyrosine hydroxylase/insulin/insulin-like growth factor II chromosomal region was indicated by a high degree of linkage diseq...
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Article
Screening for insulin receptor gene DNA polymorphisms associated with glucose intolerance in a Scandinavian population
The significance of insulin receptor gene variants in the aetiology of Type 2 (non-insulin-dependent) diabetes mellitus has been investigated by analysis of restriction fragment length polymorphisms in a genet...
