Results 181 to 190 of about 5,009 (204)
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cyp21a2 Knockout Tadpoles Survive Metamorphosis Despite Low Corticosterone
Endocrinology, 2022Abstract Corticosteroids are so vital for organ maturation that reduced corticosteroid signaling during postembryonic development causes death in terrestrial vertebrates. Indeed, death occurs at metamorphosis in frogs lacking proopiomelanocortin (pomc) or the glucocorticoid receptor (GR; nr3c1).
Bidisha Paul +2 more
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Analytical Biochemistry, 2011
The CYP21A1P gene downstream of the XA gene, carrying 15 deteriorated mutations, is a nonfunctional pseudogene that shares 98% nucleotide sequence homology with CYP21A2 located on chromosome 6p21.3. However, these mutations in the CYP21A1P gene are not totally involved in each individual. From our analysis of 100 healthy ethnic Chinese (i.e., Taiwanese)
Li-Ping, Tsai +3 more
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The CYP21A1P gene downstream of the XA gene, carrying 15 deteriorated mutations, is a nonfunctional pseudogene that shares 98% nucleotide sequence homology with CYP21A2 located on chromosome 6p21.3. However, these mutations in the CYP21A1P gene are not totally involved in each individual. From our analysis of 100 healthy ethnic Chinese (i.e., Taiwanese)
Li-Ping, Tsai +3 more
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CYP21A2 intronic variants causing 21-hydroxylase deficiency
Metabolism, 2017Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder mainly caused by defects in the steroid 21-hydroxylase gene (CYP21A2). Most of CYP21A2 mutations result from intergenic recombinations between CYP21A2 and closely linked CYP21A1P pseudogene.
Concolino, P +5 more
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Analysis of CYP21A1P and the duplicated CYP21A2 genes
Gene, 2012The RCCX module on chromosome 6p21.3 has 3 possible forms: monomodular, bimodular, and trimodular. Chromosomes with 4 RCCX modules are very rare. In the monomodule, most of the CYP21A1P genes do not exist. However, haplotypes of the RCCX module with more than one CYP21A2 gene were observed.
Li-Ping, Tsai, Hsien-Hsiung, Lee
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CYP21A2 genetics: When genotype does not fit phenotype
Clinical Biochemistry, 2016• To increase awareness of genotype–phenotype correlation in congenital adrenal ...
Sani I +6 more
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การวิเคราะห์การกลายพันธุ์ของยีน CYP21A2 ในผู้ป่วยไทยที่มีภาวะพร่องเอนไซม์ 21-ไฮดรอกซิเลส
2023โรคต่อมหมวกไตชั้นนอกโตผิดปกติตั้งแต่กำเนิด เป็นโรคทางพันธุกรรมที่พบได้บ่อยที่สุดในกลุ่มโรคต่อมหมวกไตชั้นนอก มากกว่าร้อยละ 90 ของผู้ป่วยโรคนี้มีสาเหตุมาจากภาวะพร่องเอนไซม์ 21-ไฮดรอกซิเลส โดยถ่ายทอดทางพันธุกรรมแบบยีนด้อยบนออโตโซม ซึ่งเกิดจากการกลายพันธุ์ของยีน CYP21A2 ที่มีหน้าที่ควบคุมการสร้างเอนไซม์ 21-ไฮดรอกซิเลส ในวิถีการสังเคราะห์ฮอร์โมนสเตียรอยด ...
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Gene symbol: CYP21A2. Disease: Adrenal hyperplasia.
Human genetics, 2008No abstract ...
Capoluongo, Ettore Domenico +4 more
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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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Genetic defects of the CYP21A2 gene in girls with premature adrenarche
Journal of Endocrinological Investigation, 2014To seek evidence on the prevalence of CYP21A2 genetic defects and consequences in girls with premature adrenarche (PA).The study included 59 girls diagnosed with PA. Direct DNA sequencing and MLPA analysis were performed to identify mutations in CYP21A2 gene.Twelve girls were diagnosed with non-classic congenital adrenal hyperplasia (NC-CAH) based on ...
Skordis, N. +6 more
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