Research Resource: Correlating Human Cytochrome P450 21A2 Crystal Structure and Phenotypes of Mutations in Congenital Adrenal Hyperplasia
Author:
Affiliation:
1. Department of Biochemistry, Vanderbilt University, School of Medicine, Nashville, Tennessee 37232-0146
Publisher
The Endocrine Society
Subject
Endocrinology,Molecular Biology,General Medicine
Link
http://academic.oup.com/mend/article-pdf/29/9/1375/8925096/mend1375.pdf
Reference25 articles.
1. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency;White;Endocr Rev,2000
2. The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders;Miller;Endocr Rev,2011
3. Human cytochrome P450 enzymes;Guengerich,2015
4. Effects of individual mutations in the P-450(C21) pseudogene on the P-450(C21) activity and their distribution in the patient genomes of congenital steroid 21-hydroxylase deficiency;Higashi;J Biochem,1991
5. Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess;New;Proc Natl Acad Sci USA,1999
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1. Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach;Frontiers in Endocrinology;2022-03-29
2. Roles of cytochrome P450 enzymes in pharmacology and toxicology: Past, present, and future;Pharmacology and Toxicology of Cytochrome P450 – 60th Anniversary;2022
3. Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management;Endocrine Reviews;2021-05-07
4. Clinical outcomes and characteristics of P30L mutations in congenital adrenal hyperplasia due to 21-hydroxylase deficiency;Endocrine;2020-05-05
5. How do mutations affect the structural characteristics and substrate binding of CYP21A2? An investigation by molecular dynamics simulations;Physical Chemistry Chemical Physics;2020
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