Associated Papers
APF2: an improved ensemble method for pharmacogenomic variant effect prediction.
Zhou Y et al.
The Pharmacogenomics Journal, 2024
38802404 (PubMed )
Supplement: 41397_2024_338_MOESM2_ESM.xlsx › Sheet1
Hyperinsulinemic-Euglycemic Clamp Strengthens the Insulin Resistance in Nonclassical Congenital Adrenal Hyperplasia.
Delai A et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
An optimized prediction framework to assess the functional impact of pharmacogenetic variants.
Zhou Y et al.
The Pharmacogenomics Journal, 2019
30206299 (PubMed )
Supplement: 41397_2018_44_MOESM5_ESM.xlsx › Sheet1
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
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
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
Structure-based analysis of five novel disease-causing mutations in 21-hydroxylase-deficient patients.
Minutolo C et al.
Plos One, 2011
21264314 (PubMed )
Supplement: pone.0015899.s008.doc
Impact of molecular genetics on congenital adrenal hyperplasia management.
Balsamo A et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2010
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
Functional studies of two novel and two rare mutations in the 21-hydroxylase gene.
Barbaro M et al.
Journal of Molecular Medicine (berlin, Germany), 2006
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