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Genomes and Genes | P C WhiteSummaryAffiliation: University of Texas Southwestern Medical Center Country: USA Publications
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Inherited forms of mineralocorticoid hypertensionP C White
Department of Pediatrics, University of Texas South Western Medical Center, Dallas 75235 9063, USA
Hypertension 28:927-36. 1996..This autosomal recessive form of severe hypertension results from mutations in the HSD11K (HSD11B2) gene...
Congenital adrenal hyperplasia due to 21-hydroxylase deficiencyP C White
Division of Pediatric Endocrinology, University of Texas Southwestern Medical Center, Dallas 75390 9063, USA
Endocr Rev 21:245-91. 2000..Glucocorticoid and mineralocorticoid replacement are the mainstays of treatment, but more rational dosing and additional therapies are being developed...
Mutants of 11beta-hydroxysteroid dehydrogenase (11-HSD2) with partial activity: improved correlations between genotype and biochemical phenotype in apparent mineralocorticoid excessB S Nunez
Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Tex 75235 9063, USA
Hypertension 34:638-42. 1999..0004). Approximately 5% conversion of cortisol to cortisone is predicted in subjects with mutations that completely inactivate HSD11B2, suggesting that a low level of enzymatic activity is mediated by another enzyme, possibly 11-HSD1...
Possible association but no linkage of the HSD11B2 gene encoding the kidney isozyme of 11beta-hydroxysteroid dehydrogenase to hypertension in Black peopleP C White
Department of Pediatrics, University of Texas South Western Medical Center, Dallas, TX 75235 9063, USA
Clin Endocrinol (Oxf) 55:249-52. 2001..This gene is thus a logical candidate locus for risk of essential hypertension...
Transcriptional regulation of human 11beta-hydroxylase (hCYP11B1)X L Wang
Department of Obstetrics and Gynecology, University of Texas Southwestern Medical Center, Dallas 75390 9032, USA
Endocrinology 141:3587-94. 2000..The differential effects of SF-1 on transcription of hCYP11B1 and hCYP11B2 may be one of the mechanisms controlling differential expression of these isozymes within the zonae fasciculata and glomerulosa of the human adrenal cortex...
11 beta-Hydroxysteroid dehydrogenase and the syndrome of apparent mineralocorticoid excessP C White
Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas 75235 9063, USA
Endocr Rev 18:135-56. 1997..Mutations in the HSD11B2 (HSD11K) gene encoding the kidney isozyme of 11-HSD have been detected in all kindreds with AME studied thus far. This gene represents a candidate locus for the common, "essential" form of hypertension...
Molecular biology of 11β-hydroxylase and 11β-hydroxysteroid dehydrogenase enzymesP C White
Division of Pediatric Endocrinology, Cornell University Medical College, New York, NY 10021, USA
J Steroid Biochem Mol Biol 43:827-35. 1992..It is possible that mutations in this gene cause a form of childhood hypertension called apparent mineralocorticoid excess, in which the mineralocorticoid receptor is not protected from high concentrations of cortisol...
Aldosterone synthase (CYP11B2) polymorphisms and cardiovascular functionP C White
Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, USA
Endocr Res 24:797-804. 1998..These physiological parameters are cardiovascular risk factors. Indeed, preliminary studies suggest that the -344C allele is also associated with increased risk of myocardial infarction in high risk dyslipidemic males...
Gene structure and chromosomal localization of the human HSD11K gene encoding the kidney (type 2) isozyme of 11 beta-hydroxysteroid dehydrogenaseA K Agarwal
Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas 75235 9063, USA
Genomics 29:195-9. 1995..Different transcriptional start sites are utilized in kidney and placenta. These data should be applicable to genetic analysis of the syndrome of apparent mineralocorticoid excess, which may represent a deficiency of 11 beta HSD...
Structure of the VPATPD gene encoding subunit D of the human vacuolar proton ATPaseA K Agarwal
Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas, 75390 9063, USA
Biochem Biophys Res Commun 279:543-7. 2000..The functional significance of the proximity of these two genes remains to be established...
Congenital hyperreninemic hypoaldosteronism unlinked to the aldosterone synthase (CYP11B2) geneK M Kayes-Wandover
Division of Pediatric Endocrinology, University of Texas Southwestern Medical Center, Dallas, Texas 75390 9063, USA
J Clin Endocrinol Metab 86:5379-82. 2001..These results demonstrate the existence of an inherited form of hyperreninemic hypoaldosteronism distinct from aldosterone synthase deficiency. The affected gene(s) remain to be determined...
Steroidogenic enzyme gene expression in the human heartK M Kayes-Wandover
Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas 75235 9063, USA
J Clin Endocrinol Metab 85:2519-25. 2000..1% those in the adrenal gland. These findings are consistent with autocrine or paracrine roles for corticosterone and deoxycorticosterone, but not cortisol or aldosterone, in the normal adult human heart...
CA-Repeat polymorphism in intron 1 of HSD11B2 : effects on gene expression and salt sensitivityA K Agarwal
Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas 75235 9063, USA
Hypertension 36:187-94. 2000..We conclude that polymorphisms in HSD11B2 and decreased 11-HSD2 activity are associated with sensitivity to sodium loading, but a functional explanation for these associations remains to be elucidated...
Differential regulation of aldosterone synthase and 11beta-hydroxylase transcription by steroidogenic factor-1M H Bassett
Department of Obstetrics and Gynecology, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, Texas 75390 9032, USA
J Mol Endocrinol 28:125-35. 2002..Taken together, these data suggest that SF-1 and the Ad4 element are not major regulators of adrenal hCYP11B2 gene expression. Thus far, hCYP11B2 is the first steroid hydroxylase gene which is not positively regulated by SF-1...
Steroid 11 beta-hydroxylase deficiency and related disordersP C White
Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas, USA
Endocrinol Metab Clin North Am 30:61-79, vi. 2001..Recombinations between these two genes cause glucocorticoid suppressible hyperaldosteronism, an autosomal dominant form of hypertension...
Sequence similarities between a novel putative G protein-coupled receptor and Na+/Ca2+ exchangers define a cation binding domainH Nikkila
Division of Pediatric Endocrinology, University of Texas Southwestern Medical Center, Dallas 75235 9063, USA
Mol Endocrinol 14:1351-64. 2000..These results define a consensus cation binding motif employed in several widely divergent types of proteins. The ligand for VLGR1, its function, and the signaling pathway(s) it employs remain to be defined...
Type 1 aldosterone synthase deficiency presenting in a middle-aged manK M Kayes-Wandover
Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas 75390 9063, USA
J Clin Endocrinol Metab 86:1008-12. 2001....
11beta-hydroxysteroid dehydrogenase and its role in the syndrome of apparent mineralocorticoid excessP C White
Department of Pediatrics, University of Texas Southwestern Medical Center, 75390 9063, USA
Am J Med Sci 322:308-15. 2001..This suggests that the biochemical and clinical phenotype of AME is largely determined by genotype...
Aldosterone synthase (CYP11B2) polymorphisms and cardiovascular functionP C White
Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas 75235 9063, USA
J Steroid Biochem Mol Biol 69:409-12. 1999..These physiological parameters are cardiovascular risk factors. Indeed, preliminary studies suggest that the -344C allele is also associated with increased risk of myocardial infarction in high risk dyslipidemic males...
Prominent sex steroid metabolism in human lymphocytesZ Zhou
Department of Pediatrics, North Shore University Hospital, New York University School of Medicine, Manhasset 11030, USA
Mol Cell Endocrinol 138:61-9. 1998..One metabolite thought to be deoxycorticosterone was identified by GC/MS as 6alpha-hydroxypregnanolone. It was concluded that sex hormone metabolism, including androgen synthesis, occurs in lymphocytes, and may modulate immune response...
Congenital adrenal hyperplasiasP C White
Division of Pediatric Endocrinology, UT Southwestern Medical Center, Dallas, TX 75235-9063, USA
Best Pract Res Clin Endocrinol Metab 15:17-41. 2001..These clinical recommendations are explained in the context of the molecular and biochemical characteristics of the diseases...
Human hypertension caused by mutations in the kidney isozyme of 11 beta-hydroxysteroid dehydrogenaseT Mune
Division of Pediatric Endocrinology, University of Texas Southwestern Medical Center, Dallas 75235 9063, USA
Nat Genet 10:394-9. 1995..These mutations markedly affect enzymatic activity. They thus permit cortisol to occupy the renal mineralocorticoid receptor and thereby cause sodium retention and hypertension...
