Genetic recombination as a cause of inherited disorders of aldosterone and cortisol biosynthesis and a contributor to genetic variation in blood pressure

This publication has 25 references indexed in Scilit:

• Characterization of Two Genes Encoding Human Steroid 11β-Hydroxylase (P-45011β)
  Published by Elsevier ,2021
• Adrenal steroid biosynthesis
  Current Opinion in Endocrinology, Diabetes and Obesity, 1994
• Congenitally Defective Aldosterone Biosynthesis in Humans: Inactivation of the P450C18 Gene (CYP11B2) Due to Nucleotide Deletion in CMO I-Deficient Patients
  Biochemical and Biophysical Research Communications, 1993
• The chimeric gene linked to glucocorticoid-suppressible hyperaldosteronism encodes a fused P-450 protein prssessing aldosterone synthase activity
  Biochemical and Biophysical Research Communications, 1992
• Frame shift by insertion of 2 basepairs in codon 394 of CYP11B1 causes congenital adrenal hyperplasia due to steroid 11 beta-hydroxylase deficiency
  Journal of Clinical Endocrinology & Metabolism, 1992
• Hereditary hypertension caused by chimaeric gene duplications and ectopic expression of aldosterone synthase
  Nature Genetics, 1992
• A chimaeric llβ-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension
  Nature, 1992
• Genetic basis of endocrine disease 2: congenital adrenal hyperplasia due to 21-hydroxylase deficiency
  Journal of Clinical Endocrinology & Metabolism, 1992
• The Product of the CYP11B2 Gene Is Required for Aldosterone Biosynthesis in the Human Adrenal Cortex
  Molecular Endocrinology, 1991
• A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin.
  Journal of Clinical Investigation, 1991