Results 161 to 170 of about 3,461 (195)
CYP17A1 inhibitor abiraterone, an anti-prostate cancer drug, also inhibits the 21-hydroxylase activity of CYP21A2 [PDF]
Journal of Steroid Biochemistry and Molecular Biology, 2017 Abiraterone is an inhibitor of CYP17A1 which is used for the treatment of castration resistant prostate cancer. Abiraterone is known to inhibit several drug metabolizing cytochrome P450 enzymes including CYP1A2, CYP2D6, CYP2C8, CYP2C9, CYP2C19, CYP3A4 ...
Jana Malikova +2 more
exaly +2 more sources
Lack of genotypephenotype correlation in congenital adrenal hyperplasia due to a CYP21A2-like gene
Clinica Chimica Acta, 2014 Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency, encoded by CYP21A2 gene, is an autosomal recessive disorder. The CYP21A2 gene, localized in a genetic unit defined RCCX module, is considered one of the most polymorphic of human ...
V Longo +2 more
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Journal of Endocrinological Investigation, 2015 Purpose Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease characterized by impaired adrenal steroidogenesis and most often caused by CYP21A2 gene mutations.
Svetlana Vujovic, Maja Stojiljkovic
exaly +2 more sources
Clinical Chemistry and Laboratory Medicine, 2010 Steroid 21-hydroxylase deficiency is present in more than 90% of patients with congenital adrenal hyperplasia, an inherited metabolic disorder of adrenal steroidogenesis.
Paola Concolino +2 more
exaly +2 more sources
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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
openaire +2 more sources
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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Structure–phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia
Proceedings of the National Academy of Sciences of the United States of America, 2013 Congenital Adrenal Hyperplasia (CAH) is a family of autosomal recessive disorders involving impaired synthesis of cortisol from cholesterol by adrenal cortex.
Shozeb Haider +2 more
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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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