Results 241 to 250 of about 6,020 (257)
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Variants of the CYP21A2 and CYP21A1P genes in congenital adrenal hyperplasia
Clinica Chimica Acta, 2013More than 90% of congenital adrenal hyperplasia cases are caused by mutation of the CYP21A2 gene which converted from the CYP21A1P pseudogene. Sizes of the 3.7-kb TaqI-produced fragment that exists downstream of the TNXB gene, representing the CYP21A2, and the 3.2-kb TaqI-produced fragment that exists downstream of the XA gene, representing the ...
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A new CYP21A2 nonsense mutation causing severe 21-hydroxylase deficiency
Clinical Chemistry and Laboratory Medicine, 2009Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused primarily by defects in the steroid 21-hydroxylase gene (CYP21A2). The CYP21A2 gene is located in the HLA class III region on the short arm of chromosome 6p21.3, along with an inactive pseudogene, CYP21A1P, that is 98% homologous with CYP21A2 in its coding sequence.
CONCOLINO P +4 more
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Impact of Genome Complexity of the CYP21A2 Gene on Adrenal Steroidogenesis
Journal of Experimental & Clinical Medicine, 2012Steroidogenesis in the adrenal cortex generates mineralocorticoids, glucocorticoids, and androgens, all of which are mediated by numerous enzymes and regulatory factors from the precursor, cholesterol. Defective adrenal steroidogenesis disorders include Addison’s disease, congenital adrenal hyperplasia (CAH), and Cushing syndrome.
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[From gene to disease: adrenogenital syndrome and the CYP21A2 gene].
Nederlands tijdschrift voor geneeskunde, 2007Congenital adrenal hyperplasia (CAH) is a disorder of adrenal steroid synthesis. In more than 90% of cases CAH is caused by CYP21 (21-hydroxylase) deficiency leading to impaired cortisol and aldosterone synthesis and an increase in ACTH secretion. This then leads to stimulation of the adrenal gland and overproduction of androgens with virilisation of ...
Claahsen-van der Grinten, H.L. +1 more
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Comprehensive Genetic Analysis and Structural Characterization of CYP21A2 Mutations in CAH Patients
Experimental and Clinical Endocrinology & Diabetes, 2012Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a common autosomal recessive disorder caused by mutations in the steroid 21-hydroxylase gene (CYP21A2). Complete DNA sequencing of CYP21A2 was performed in 5 patients, 3 non-classic and 2 classic forms of the disease, that were previously screened for the 10 most common mutations,
Miguel Pereira +7 more
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Molecular analysis of the CYP21A2 gene in Chinese patients with steroid 21-hydroxylase deficiency
Clinical Biochemistry, 201421-Hydroxylase deficiency (21-OHD) is the most common cause of congenital adrenal hyperplasia (CAH), a family of autosomal recessive disorders involving impaired cortisol synthesis. This study aimed to design a reliable and rational approach for identifying mutations in the CYP21A2 gene and to characterize the molecular basis of 21-OHD in 30 Chinese ...
Mei-lian Huang +11 more
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Clinica chimica acta; international journal of clinical chemistry, 2023
Huijun Li +7 more
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Huijun Li +7 more
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CYP21A2 and CYP11B1 gene analyses in a virilized newborn female with congenital adrenal hyperplasia.
Medicina clínica (Ed. impresa), 2023E. Llorente Martín +2 more
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