Associated Papers
Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene.
Concolino P et al.
Molecular Diagnosis & Therapy, 2018
Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations.
Bruque CD et al.
Scientific Reports, 2016
27966633 (PubMed )
Supplement: srep39082-s1.pdf
One hundred years of congenital adrenal hyperplasia in Sweden: a retrospective, population-based cohort study.
Gidlöf S et al.
The Lancet. Diabetes & Endocrinology, 2013
Structure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia.
Haider S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2013
Functional studies of CYP21A2 mutants complement structural and clinical predictions of disease severity in CAH.
Barbaro M et al.
Clinical Endocrinology, 2012
Three-dimensional structure of steroid 21-hydroxylase (cytochrome P450 21A2) with two substrates reveals locations of disease-associated variants.
Zhao B et al.
The Journal of Biological Chemistry, 2012
Molecular model of human CYP21 based on mammalian CYP2C5: structural features correlate with clinical severity of mutations causing congenital adrenal hyperplasia.
Robins T et al.
Molecular Endocrinology (baltimore, Md.), 2006
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