Associated Papers
Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.
Alkhamis FA et al.
Functional & Integrative Genomics, 2023
Spatially restricted substrate-binding site of cortisol-synthesizing CYP11B1 limits multiple hydroxylations and hinders aldosterone synthesis.
Mukai K et al.
Current Research in Structural Biology, 2021
Different effects of progesterone and estradiol on chimeric and wild type aldosterone synthase in vitro.
Vecchiola A et al.
Reproductive Biology and Endocrinology : Rb&e, 2013
Structural insights into aldosterone synthase substrate specificity and targeted inhibition.
Strushkevich N et al.
Molecular Endocrinology (baltimore, Md.), 2013
Progress in molecular-genetic studies on congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.
Zhao LQ et al.
World Journal of Pediatrics : Wjp, 2008
Steroid 11-beta-hydroxylase deficiency caused by compound heterozygosity for a novel mutation, p.G314R, in one CYP11B1 allele, and a chimeric CYP11B2/CYP11B1 in the other allele.
Kuribayashi I et al.
Hormone Research, 2005
[11beta-hydroxylase deficiency].
Mello MP et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2004
Neonatal salt-wasting and 11 beta-hydroxylase deficiency in a child carrying a homozygous deletion hybrid CYP11B2 (aldosterone synthase)-CYP11B1 (11 beta-hydroxylase).
Ezquieta B et al.
Clinical Genetics, 2004
Mutations in CYP11B1 gene converting 11beta-hydroxylase into an aldosterone-producing enzyme are not present in aldosterone-producing adenomas.
Pilon C et al.
The Journal of Clinical Endocrinology and Metabolism, 1999
Recombinant CYP11B genes encode enzymes that can catalyze conversion of 11-deoxycortisol to cortisol, 18-hydroxycortisol, and 18-oxocortisol.
Mulatero P et al.
The Journal of Clinical Endocrinology and Metabolism, 1998
Mutation THR-185 ILE is associated with corticosterone methyl oxidase deficiency type II.
Peter M et al.
European Journal of Pediatrics, 1998
Conferring aldosterone synthesis to human CYP11B1 by replacing key amino acid residues with CYP11B2-specific ones.
Böttner B et al.
European Journal of Biochemistry, 1998
Hereditary defect in biosynthesis of aldosterone: aldosterone synthase deficiency 1964-1997.
Peter M et al.
The Journal of Clinical Endocrinology and Metabolism, 1997
The amino acid substitutions Ser288Gly and Val320Ala convert the cortisol producing enzyme, CYP11B1, into an aldosterone producing enzyme.
Curnow KM et al.
Nature Structural Biology, 1997