Adrenocortical tumors: recent advances in basic concepts and clinical management

SR Bornstein, CA Stratakis… - Annals of internal …, 1999 - acpjournals.org
Adrenocortical masses are among the most common tumors in humans. However, only a
small proportion of these tumors cause endocrine diseases (such as primary …

Steroid 11β-hydroxylase deficiency and related disorders

PC White - Genetic Steroid Disorders, 2023 - Elsevier
Humans have two isozymes with 11β-hydroxylase activity that are respectively required for
cortisol and aldosterone synthesis. CYP11B1 (11β-hydroxylase) converts 11-deoxycortisol …

Gigantism and Acromegaly Due to Xq26 Microduplications and GPR101 Mutation

G Trivellin, AF Daly, FR Faucz, B Yuan… - … England Journal of …, 2014 - Mass Medical Soc
Background Increased secretion of growth hormone leads to gigantism in children and
acromegaly in adults; the genetic causes of gigantism and acromegaly are poorly …

A novel genetic locus for low renin hypertension: familial hyperaldosteronism type II maps to chromosome 7 (7p22)

AR Lafferty, DJ Torpy, M Stowasser… - Journal of medical …, 2000 - jmg.bmj.com
Familial hyperaldosteronism type II (FH-II) is caused by adrenocortical hyperplasia or
aldosteronoma or both and is frequently transmitted in an autosomal dominant fashion …

Pituitary Macroadenoma in a 5-Year-Old: An Early Expression of Multiple Endocrine Neoplasia Type

CA Stratakis, DH Schussheim… - The Journal of …, 2000 - academic.oup.com
Multiple endocrine neoplasia type 1 (MEN 1) is associated with parathyroid,
enteropancreatic, pituitary, and other tumors. The MEN1 gene, a tumor suppressor, is …

Aldosterone synthase inhibitor ameliorates angiotensin II–induced organ damage

A Fiebeler, J Nussberger, E Shagdarsuren, S Rong… - Circulation, 2005 - ahajournals.org
Background—Aldosterone and angiotensin (Ang) II both may cause organ damage.
Circulating aldosterone is produced in the adrenals; however, local cardiac synthesis has …

The human vitamin D receptor gene (VDR) is localized to region 12cen‐q12 by fluorescent in situ hybridization and radiation hybrid map**: genetic and physical …

SE Taymans, S Pack, E Pak, Z Orban… - Journal of Bone and …, 1999 - academic.oup.com
The vitamin D receptor (VDR) is a member of the steroid hormone receptor superfamily of
ligand‐activated transcription factors. The VDR gene was previously mapped to human …

Joint analysis of the influence of CYP11B1 and DGAT1 genetic variation on milk production, somatic cell score, conformation, reproduction, and productive lifespan in …

B Kaupe, H Brandt, EM Prinzenberg… - Journal of animal …, 2007 - academic.oup.com
Recent publications indicate genetic variation in milk production traits on proximal BTA14,
which cannot be explained solely with genetic variation in the DGAT1 gene. To elucidate …

Synthesis and evaluation of heteroaryl-substituted dihydronaphthalenes and indenes: potent and selective inhibitors of aldosterone synthase (CYP11B2) for the …

M Voets, I Antes, C Scherer… - Journal of medicinal …, 2006 - ACS Publications
In this study, the synthesis and biological evaluation of heteroaryl-substituted
dihydronaphthalenes and indenes (1− 16) is described. The compounds were tested for …

Modulation of aldosterone and cortisol synthesis on the molecular level

M Lisurek, R Bernhardt - Molecular and cellular endocrinology, 2004 - Elsevier
CYP11B1 and the closely related CYP11B2 are involved in the production of adrenal steroid
hormones. Although in human their primary structure is 93% identical they are involved in …